Data type Species Disease Gene Title Result PMID Details
mRNA Homo sapiens MS STAT1 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity Western blot analysis for total Stat1 and Stat2 proteins was performed at 8 and 24 h post-stimulation and show that both IFN-b and IFN-c increase the amounts of total Stat protein expression. 12437583 Details
mRNA Homo sapiens MS STAT2 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity Western blot analysis for total Stat1 and Stat2 proteins was performed at 8 and 24 h post-stimulation and show that both IFN-b and IFN-c increase the amounts of total Stat protein expression. 12437583 Details
mRNA Homo sapiens MS CYBB Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients We found a 1.43-fold significant up-regulation (p = 0.032) of CYBB in RR-MS pati 30567305 Details
mRNA Homo sapiens MS IL17 CD28 Individual Signaling Up-regulates Human IL-17A Expression by Promoting the Recruitment of RelA/NF-κB and STAT3 Transcription Factors on the Proximal Promoter pSTAT3 and RelA/NF-κB Cooperate to Trans-activate the Human IL-17A Promoter in CD28-stimulated CD4+ T Cells 31068940 Details
mRNA Homo sapiens MS NCAM1 Non-MHC-restricted cell-mediated lysis of human oligodendrocytes in vitro: relation with CD56 expression High CD56 cell lines, when rested in IL-2, lost cytotoxic activity and had reduced expression of CD56. 9469416 Details
mRNA Homo sapiens EAE H1 Targeted CNS expression of interferon-gamma in transgenic mice leads to hypomyelination, reactive gliosis, and abnormal cerebellar development Additionally, major histocompatibility complex (MHC) class I and class II mRNA levels were increased in the CNS of MBP/IFN-g many immune-mediated demyelinating disorders, includ- transgenic mice, and the increase in MHC class I mRNA expression was detected in both white and gray matter regions. 8812062 Details
mRNA Homo sapiens MS IL10 Optical coherence tomography and T cell gene expression analysis in patients with benign multiple sclerosis Our results demonstrated that retinal nerve fiber layer was mildly thinned, and T cells had a distinct gene expression profile that included upregulation of interleukin 10 and leukemia inhibitory factor, downregulation of interleukin 6 and neurotensin high affinity receptor 1 (a novel neurotrophin receptor). 28966652 Details
mRNA Homo sapiens MS LIF Optical coherence tomography and T cell gene expression analysis in patients with benign multiple sclerosis Our results demonstrated that retinal nerve fiber layer was mildly thinned, and T cells had a distinct gene expression profile that included upregulation of interleukin 10 and leukemia inhibitory factor, downregulation of interleukin 6 and neurotensin high affinity receptor 1 (a novel neurotrophin receptor). 28966652 Details
mRNA Homo sapiens MS IL6 Optical coherence tomography and T cell gene expression analysis in patients with benign multiple sclerosis Our results demonstrated that retinal nerve fiber layer was mildly thinned, and T cells had a distinct gene expression profile that included upregulation of interleukin 10 and leukemia inhibitory factor, downregulation of interleukin 6 and neurotensin high affinity receptor 1 (a novel neurotrophin receptor). 28966652 Details
mRNA Homo sapiens MS NTSR1 Optical coherence tomography and T cell gene expression analysis in patients with benign multiple sclerosis Our results demonstrated that retinal nerve fiber layer was mildly thinned, and T cells had a distinct gene expression profile that included upregulation of interleukin 10 and leukemia inhibitory factor, downregulation of interleukin 6 and neurotensin high affinity receptor 1 (a novel neurotrophin receptor). 28966652 Details
mRNA Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis IL7R mRNA expression is higher in the CSF of individuals with multiple sclerosis (MS) than in the CSF of individuals with other noninflammatory neurological disorders (OND). 17660816 Details
mRNA Homo sapiens MS IL7 Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis IL7 mRNA expression is higher in the CSF of individuals with multiple sclerosis than in the CSF of individuals with other noninflammatory neurological disorders. 17660816 Details
mRNA Homo sapiens MS SIRT1 Evidence for possible role of melatonin in reducing oxidative stress in multiple sclerosis through its effect on SIRT1 and antioxidant enzymes Melatonin significantly increased activities and mRNA levels of SIRT1. 26679105 Details
mRNA Homo sapiens MS miR-155 miR-155 and functional proteins of CD8+ T cells as potential prognostic biomarkers for relapsing-remitting multiple sclerosis Results showed downregulation of miR-155 and upregulation of surface receptors and cytotoxic proteins in CD8+T cells with significant correlation with each other and patients’ EDSS. 34171684 Details
mRNA Homo sapiens MS IL17 Cytokines gene expression in newly diagnosed multiple sclerosis patients The mRNA mean expressions of IL-17, IL-10, IL-27, TGF-β were different in patient and control groups,which displayed a significant increase in IL-17 and decrease in IL-10, IL-27 and TGF-β in patients group (p=0.015, p=0.005, p=0.027, p<0.001). 25780887 Details
mRNA Homo sapiens MS IL10 Cytokines gene expression in newly diagnosed multiple sclerosis patients The mRNA mean expressions of IL-17, IL-10, IL-27, TGF-β were different in patient and control groups,which displayed a significant increase in IL-17 and decrease in IL-10, IL-27 and TGF-β in patients group (p=0.015, p=0.005, p=0.027, p<0.001). 25780887 Details
mRNA Homo sapiens MS IL27 Cytokines gene expression in newly diagnosed multiple sclerosis patients The mRNA mean expressions of IL-17, IL-10, IL-27, TGF-β were different in patient and control groups,which displayed a significant increase in IL-17 and decrease in IL-10, IL-27 and TGF-β in patients group (p=0.015, p=0.005, p=0.027, p<0.001). 25780887 Details
mRNA Homo sapiens MS TGFB1 Cytokines gene expression in newly diagnosed multiple sclerosis patients The mRNA mean expressions of IL-17, IL-10, IL-27, TGF-β were different in patient and control groups,which displayed a significant increase in IL-17 and decrease in IL-10, IL-27 and TGF-β in patients group (p=0.015, p=0.005, p=0.027, p<0.001). 25780887 Details
mRNA Homo sapiens MS VDR Vitamin D-related gene expression profiles in immune cells of patients with relapsing remitting multiple sclerosis Gene expression profiles of vit-D receptor (VDR), CYP27B1 and CYP24A1 did not differ between RRMS patients and healthy controls. 21507492 Details
mRNA Homo sapiens MS CYP27B1 Vitamin D-related gene expression profiles in immune cells of patients with relapsing remitting multiple sclerosis Gene expression profiles of vit-D receptor (VDR), CYP27B1 and CYP24A1 did not differ between RRMS patients and healthy controls. 21507492 Details
mRNA Homo sapiens MS CYP24A1 Vitamin D-related gene expression profiles in immune cells of patients with relapsing remitting multiple sclerosis Gene expression profiles of vit-D receptor (VDR), CYP27B1 and CYP24A1 did not differ between RRMS patients and healthy controls. 21507492 Details
mRNA Homo sapiens MS MIR155 Investigation of the miRNA146a and miRNA155 gene expression levels in patients with multiple sclerosis MicroRNA-146a and MicroRNA-155 levels were increased in patients with MS compared to controls. 32331943 Details
mRNA Homo sapiens MS MIR146A Investigation of the miRNA146a and miRNA155 gene expression levels in patients with multiple sclerosis MicroRNA-146a and MicroRNA-155 levels were increased in patients with MS compared to controls. 32331943 Details
mRNA Homo sapiens MS STAT3 Epigenetic mechanisms shape the underlining expression regulatory mechanisms of the STAT3 in multiple sclerosis disease STAT3 gene expression increased in patient group relative to healthy one, and the increases were found to be statistically signifcant. 33375941 Details
mRNA Homo sapiens MS VIPR1 Altered expression of vasoactive intestinal peptide receptors in T lymphocytes and aberrant Th1 immunity in multiple sclerosis Differential expression of VPAC1 and VPAC2 genes in unstimulated and activated CD4+ T cells derived from MS patients and healthy controls. 17077178 Details
mRNA Homo sapiens MS VIPR2 Altered expression of vasoactive intestinal peptide receptors in T lymphocytes and aberrant Th1 immunity in multiple sclerosis Differential expression of VPAC1 and VPAC2 genes in unstimulated and activated CD4+ T cells derived from MS patients and healthy controls. 17077178 Details
mRNA Homo sapiens MS MIR328 Identification of the miRNA-mRNA regulatory network in multiple sclerosis The verification of qRT-PCR displayed that hsa-miR-328-3p was significantly up-regulated in MS and its target genes RAC2 had the down-regulated tendency in MS. 27809691 Details
mRNA Homo sapiens MS RAC2 Identification of the miRNA-mRNA regulatory network in multiple sclerosis The verification of qRT-PCR displayed that hsa-miR-328-3p was significantly up-regulated in MS and its target genes RAC2 had the down-regulated tendency in MS. 27809691 Details
mRNA Homo sapiens MS MIR20A Identification of the miRNA-mRNA regulatory network in multiple sclerosis hsa-miR-20a-5p had the up-regulated tendency and the corresponding target gene EIF4EBP2 had the down-regulated tendency in MS compared to healthy controls. 27809691 Details
mRNA Homo sapiens MS EIF4EBP2 Identification of the miRNA-mRNA regulatory network in multiple sclerosis hsa-miR-20a-5p had the up-regulated tendency and the corresponding target gene EIF4EBP2 had the down-regulated tendency in MS compared to healthy controls. 27809691 Details
mRNA Homo sapiens MS MYT1 Myelin transcription factor 1 (Myt1) expression in demyelinated lesions of rodent and human CNS MS lesions demonstrated increased Myt1 expression in both the periplaque white matter adjacent to lesions and within early remyelinating lesions. 17330875 Details
mRNA Homo sapiens MS MMP9 Up regulation of MMP9 gene expression in female patients with multiple sclerosis The RRMS patients manifested a higher expression level of MMP9 than their normal counterparts (P = 0.02). 28128762 Details
mRNA Homo sapiens MS IL-35 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The serum IL-35 level was significantly higher in MS patients (1372 [575–2192] pg/mL) compared to healthy controls. 32988630 Details
mRNA Homo sapiens MS ERVW-1 Expression and activation by Epstein Barr virus of human endogenous retroviruses-W in blood cells and astrocytes: inference for multiple sclerosis EBV activates the expression of HERV-W/MSRVenv/syncytin-1 by astrocytes 23028727 Details
mRNA Homo sapiens MS FOXP3 Ex vivo expanded regulatory T cells CD4+CD25+FoxP3+CD127Low develop strong immunosuppressive activity in patients with remitting-relapsing multiple sclerosis Increased expression of FoxP3 and Helios in expanded Tregs of HD and MS patients 27424664 Details
mRNA Homo sapiens MS ODAD1 Deep characterization of paired chromatin and transcriptomes in four immune cell types from multiple sclerosis patients Gene expression of SERTAD1 was downregulated in RR, and CCDC114 was upregulated in RR. 34676774 Details
mRNA Homo sapiens MS SERTAD1 Deep characterization of paired chromatin and transcriptomes in four immune cell types from multiple sclerosis patients Gene expression of SERTAD1 was downregulated in RR, and CCDC115 was upregulated in RR. 34676774 Details
mRNA Homo sapiens MS TNFSF10 TRAIL gene expression analysis in multiple sclerosis patients No statistically significant difference was found in TRAIL mRNA expression between MS patients and controls (p >0.05). 27472871 Details
mRNA Homo sapiens MS CR2 The role of the Epstein-Barr virus receptor CD21 in multiple sclerosis In accordance with findings in other autoimmune disorders decreased sCD21 levels were found in MS patients. 22137275 Details
mRNA Homo sapiens MS DNMT1 TET2 gene expression and 5-hydroxymethylcytosine level in multiple sclerosis peripheral blood cells We show that TET2 and DNMT1 expression is significantly down-regulated in MS PBMCs and it is associated with aberrant methylation of their promoters. 24735979 Details
mRNA Homo sapiens MS TET2 TET2 gene expression and 5-hydroxymethylcytosine level in multiple sclerosis peripheral blood cells We show that TET2 and DNMT1 expression is significantly down-regulated in MS PBMCs and it is associated with aberrant methylation of their promoters. 24735979 Details
mRNA Homo sapiens MS KLRB1 Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655 The expression of KLRB1 in blood from MS patients was higher compared with healthy controls. 21610746 Details
mRNA Homo sapiens MS POLR1D Suppressed RNA-polymerase 1 pathway is associated with benign multiple sclerosis Low level of the POL-1 pathway key genes POLR1D (p = 0.001), RRN3 (p = 0.03) and LRPPRC (p = 0.03) is demonstrated in BMB patients as compared with RRMS patients. 23077530 Details
mRNA Homo sapiens MS RRN3 Suppressed RNA-polymerase 1 pathway is associated with benign multiple sclerosis Low level of the POL-1 pathway key genes POLR1D (p = 0.001), RRN3 (p = 0.03) and LRPPRC (p = 0.03) is demonstrated in BMB patients as compared with RRMS patients. 23077530 Details
mRNA Homo sapiens MS LRPPRC Suppressed RNA-polymerase 1 pathway is associated with benign multiple sclerosis Low level of the POL-1 pathway key genes POLR1D (p = 0.001), RRN3 (p = 0.03) and LRPPRC (p = 0.03) is demonstrated in BMB patients as compared with RRMS patients. 23077530 Details
mRNA Homo sapiens MS RTL1 Integrative analysis of OIP5-AS1/HUR1 to discover new potential biomarkers and therapeutic targets in multiple sclerosis The results of this study indicate an increase in the expression of HUR1 (p = 0.0001), CPSF7 (p = 0.02), and reduction of CSTF2 expression (p = 0.04). Also, an increase in the expression of OIP5‐AS1 (p = 0.01) was observed in men less than 30 years old. 30815864 Details
mRNA Homo sapiens MS CPSF7 Integrative analysis of OIP5-AS1/HUR1 to discover new potential biomarkers and therapeutic targets in multiple sclerosis The results of this study indicate an increase in the expression of HUR1 (p = 0.0001), CPSF7 (p = 0.02), and reduction of CSTF2 expression (p = 0.04). Also, an increase in the expression of OIP5‐AS1 (p = 0.01) was observed in men less than 30 years old. 30815864 Details
mRNA Homo sapiens MS CSTF2 Integrative analysis of OIP5-AS1/HUR1 to discover new potential biomarkers and therapeutic targets in multiple sclerosis The results of this study indicate an increase in the expression of HUR1 (p = 0.0001), CPSF7 (p = 0.02), and reduction of CSTF2 expression (p = 0.04). Also, an increase in the expression of OIP5‐AS1 (p = 0.01) was observed in men less than 30 years old. 30815864 Details
mRNA Homo sapiens MS OIP5‐AS1 Integrative analysis of OIP5-AS1/HUR1 to discover new potential biomarkers and therapeutic targets in multiple sclerosis The results of this study indicate an increase in the expression of HUR1 (p = 0.0001), CPSF7 (p = 0.02), and reduction of CSTF2 expression (p = 0.04). Also, an increase in the expression of OIP5‐AS1 (p = 0.01) was observed in men less than 30 years old. 30815864 Details
mRNA Homo sapiens MS MIR145 Association between miRNA-145 and miRNA-155 expression in peripheral blood mononuclear cells of patients with multiple sclerosis: a case-control study We found that expression of miRNA-145 (P=0.012) and miRNA-155 (P=0.005) were partly reduced in patients with relapse-remitting MS in comparison with healthy controls. 36329419 Details
mRNA Homo sapiens MS MIR155 Association between miRNA-145 and miRNA-155 expression in peripheral blood mononuclear cells of patients with multiple sclerosis: a case-control study We found that expression of miRNA-145 (P=0.012) and miRNA-155 (P=0.005) were partly reduced in patients with relapse-remitting MS in comparison with healthy controls. 36329419 Details
mRNA Homo sapiens MS CXCR3 Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS IFNG Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS CCL3 Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS CCL4 Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS GZMB Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS IL10 Transcriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis We find that TH1/17 cells have elevated expression of CXCR3 and reduced expression of IFNG, CCL3, CLL4, GZMB, and IL10 compared to healthy controls. 29150604 Details
mRNA Homo sapiens MS APAF1 Apoptotic protease activating factor-1 gene and MicroRNA-484: A possible interplay in relapsing remitting multiple sclerosis APAF-1 mRNA was significantly downregulated in patients whereas miR-484 expression was upregulated compared to controls. 35030371 Details
mRNA Homo sapiens MS MIR484 Apoptotic protease activating factor-1 gene and MicroRNA-484: A possible interplay in relapsing remitting multiple sclerosis APAF-1 mRNA was significantly downregulated in patients whereas miR-484 expression was upregulated compared to controls. 35030371 Details
mRNA Homo sapiens MS ANKRD55 Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55- IL6ST Gene Region in Immature Dendritic Cells In moDC, increased ANKRD55 gene expression was observed in PP MS patients compared to HC(p < 0.05), as well as decreased IL6ST expression in both PP MS and RR+SP MS groups. 35111166 Details
mRNA Homo sapiens MS IL6ST Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55- IL6ST Gene Region in Immature Dendritic Cells In moDC, increased ANKRD55 gene expression was observed in PP MS patients compared to HC(p < 0.05), as well as decreased IL6ST expression in both PP MS and RR+SP MS groups. 35111166 Details
mRNA Homo sapiens MS MIR590 Gene Regulatory Networks in Peripheral Mononuclear Cells Reveals Critical Regulatory Modules and Regulators of Multiple Sclerosis Based on the score, RFCs were calculated which showed down-regulation of POU3F2_CDK6_hsa-miR-590-3p in PPMS and up-regulation in RRMS and SPMS. 31484947 Details
mRNA Homo sapiens MS IL10 Interleukin-10 (IL10) promoter polymorphisms and multiple sclerosis IL10 polymorphism does not appear to be associated with MS or to influence disease progression 10580805 Details
mRNA Homo sapiens MS IL16 RETRACTED ARTICLE: The Association of Interleukin-16 Gene Polymorphisms with IL-16 Serum Levels and Risk of Multiple Sclerosis The mean serum levels of IL-16 in MS patients were significantly higher in MS patients compared to healthy controls. 28151028 Details
mRNA Homo sapiens MS MIR330 Study of The Correlation between miR-106a, miR-125b, and miR-330 on Multiple Sclerosis Patients by Targeting TNFSF4 and SP1 in NF-кb/TNF-α Pathway: A Case-Control Study miR-330-5p is up-regulated in RRMS patients. 36043408 Details
mRNA Homo sapiens MS TNFSF4 Study of The Correlation between miR-106a, miR-125b, and miR-330 on Multiple Sclerosis Patients by Targeting TNFSF4 and SP1 in NF-кb/TNF-α Pathway: A Case-Control Study TNFSF4 expression was increased significantly in recurrence and patients two months after relapse compared with healthy . 36043408 Details
mRNA Homo sapiens MS MIR125B1 Study of The Correlation between miR-106a, miR-125b, and miR-330 on Multiple Sclerosis Patients by Targeting TNFSF4 and SP1 in NF-кb/TNF-α Pathway: A Case-Control Study Data demonstrated that miR-125b was significantly diminished in both recurrence and two months after relapse patients and probably plays an essential role in RRMS patients. 36043408 Details
mRNA Homo sapiens MS MIR106A Study of The Correlation between miR-106a, miR-125b, and miR-330 on Multiple Sclerosis Patients by Targeting TNFSF4 and SP1 in NF-кb/TNF-α Pathway: A Case-Control Study Our results demonstrated that miR-106a expression was significantly down-regulated in the recurrence and two months after relapse patients compared with the control group. 36043408 Details
mRNA Homo sapiens MS COX5B Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis Decreased gene expression COX5B was observed in MS patients comparison with normal subjects. 23901189 Details
mRNA Homo sapiens MS MT-CO2 Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis The results showed that there are not meaning differences in COX2 gene. 23901189 Details
mRNA Homo sapiens ALS NR4A2 The transcription factor Nurr1 is upregulated in amyotrophic lateral sclerosis patients and SOD1-G93A mice The ALS group, comprising seven fALS and 36 sALS patients, showed higher Nurr1 mRNA levels compared with the HC group.Furthermore, there was a significant difference in age, but not in sex between ALS patients and HC. 32188741 Details
mRNA Homo sapiens MS IL1R1 Activated IL-1RI Signaling Pathway Induces Th17 Cell Differentiation via Interferon Regulatory Factor 4 Signaling in Patients with Relapsing-Remitting Multiple Sclerosis IL-RI gene expression is significantly increased in both naive and memory CD4+ cells derived from RRMS patients in comparison to HCs. 27965670 Details
mRNA Homo sapiens MS TNFSF14 Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility Expression levels of both the full-length and DTM TNFSF14 isoforms were lower in patients with MS compared with HCs. 34353742 Details
mRNA Homo sapiens MS CD24 Investigation of CD24 and its expression in Iranian relapsing-remitting multiple sclerosis The results indicated a significant difference in the Ct between MS patients and controls. When we calculated the relative amount of CD24 mRNA, it showed a 1.7-fold upregulation of CD24 mRNA in MS patients compared with controls. 21815873 Details
mRNA Homo sapiens MS SP3 Deficient expression in multiple sclerosis of the inhibitory transcription factor Sp3 in mononuclear blood cells Sp3 gene transcription is suppressed in peripheral blood mononuclear cells from most MS patients. 8687178 Details
mRNA Homo sapiens MS MIR140 Inverse correlation of expression of microRNA-140-5p with progression of multiple sclerosis and differentiation of encephalitogenic T helper type 1 cells The results showed that the expression level of miR‐140‐5p was significantly down‐regulated in both relapsing and remitting stages compared with that of the control. 26780721 Details
mRNA Homo sapiens MS MIRLET7E Inverse correlation of expression of microRNA-140-5p with progression of multiple sclerosis and differentiation of encephalitogenic T helper type 1 cells We found that microRNA let‐7e was significantly up‐regulated in patients with MS. 26780721 Details
mRNA Homo sapiens MS MIR181A1 Inverse correlation of expression of microRNA-140-5p with progression of multiple sclerosis and differentiation of encephalitogenic T helper type 1 cells we found that miR‐181a‐5p was significantly up‐regulated in patients with MS. 26780721 Details
mRNA Homo sapiens MS CX3CR1 Frequency of blood CX3CR1-positive natural killer cells correlates with disease activity in multiple sclerosis patients The data confirm that MS patients showed a reduced CX3CR1 gene expression compared with control individuals. 16144955 Details
mRNA Homo sapiens MS PTGDS Lipocalin-type prostaglandin D synthase (beta-trace) is upregulated in the alphaB-crystallin-positive oligodendrocytes and astrocytes in the chronic multiple sclerosis The mRNA level of L-PGDS was increased 1.5- to 2-fold in MS white matter compared with the non-MS white matter. Its level was highest in the chronic plaque, followed by the shadow plaque and ANWM of MS brains. 16409554 Details
mRNA Homo sapiens MS IL7 Interleukin-7 expression and its effect on natural killer cells in patients with multiple sclerosis MS patients had significantly lower levels of IL-7 compared with HC. 25218211 Details
mRNA Homo sapiens MS TNF Association of polymorphism -308G/A in tumor necrosis factor-alpha gene ( TNF-α) and TNF-α serum levels in patients with relapsing-remitting multiple sclerosis The obtained results indicated significant differences in TNF-α serum levels after gender division.The result shows considerably higher serum levels of TNF-α in RRMS women than in the healthy women as well as comparing with those of RRMS men. The analysis among men showed twofold higher serum cytokine TNF-α level in RRMS patients than the controls. Also, women in the control group showed approximately twofold higher cytokine serum levels than healthy men . 33252003 Details
mRNA Homo sapiens MS ERVW-1 Anti-Human Herpesvirus 6 A/B Antibodies Titers Correlate With Multiple Sclerosis-Associated Retrovirus Envelope Expression Regarding gene expression levels, we only found that MS patients,showed significantly higher pHERV-W ENV gene expression levels compared to HD. 34912348 Details
mRNA Homo sapiens MS ERVW-1 Anti-Human Herpesvirus 6 A/B Antibodies Titers Correlate With Multiple Sclerosis-Associated Retrovirus Envelope Expression Levels were higher in PP-MS patients compared to the RR-MS ones, showing a trend to statistical significance. 34912348 Details
mRNA Homo sapiens MS ERVW-1 Human endogenous retrovirus glycoprotein-mediated induction of redox reactants causes oligodendrocyte death and demyelination HERV-W env mRNA expression was selectively upregulated in brain tissue from individuals with multiple sclerosis as compared with controls. 15452578 Details
mRNA Homo sapiens MS SP3 Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization Southern blot and polymerase chain reaction analysis of genomic DNA failed to demonstrate a detectable difference between MS and control PBMC. 10814800 Details
mRNA Homo sapiens MS MMP9 Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development MMP-9 values did not differ between the NAb-positive and NAb-negative treated patient groups at any time point. 24009164 Details
mRNA Homo sapiens MS TIMP1 Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development TIMP-1 values did not differ between the NAb-positive and NAb-negative treated patient groups at any time point. 24009164 Details
mRNA Homo sapiens MS CCL2 Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development CCL-2 values did not differ between the NAb-positive and NAb-negative treated patient groups at any time point. 24009164 Details
mRNA Homo sapiens MS TNFSF10 Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development Concentrations of sTRAIL was significantly lower in the BAb-positive than BAb-negative group. 24009164 Details
mRNA Homo sapiens MS CXCL10 Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development Concentrations of CXCL-10 was significantly lower in the BAb-positive than BAb-negative group. 24009164 Details
mRNA Homo sapiens MS TYRO3 GAS6 signaling tempers Th17 development in patients with multiple sclerosis and helminth infection We have found a significantly lower percentage of monocytes and DCs expressing TYRO3 in patients with MS compared to HC groups.The mean expression level of TYRO3 per cell did not show statistical differences in monocytes, but this receptor showed a significantly higher level in DCs of HC compared to MS. 33347509 Details
mRNA Homo sapiens MS GAPDH Persistent neutralizing antibodies abolish the interferon beta bioavailability in MS patients A comparison of MxA mRNA levels in healthy volunteers and treatment-nave patients with MS showed that MxA expression was comparable between the two groups of subjects.In these patients, MxA gene expression was low, but always detectable. 12601105 Details
mRNA Homo sapiens MS GAPDH Persistent neutralizing antibodies abolish the interferon beta bioavailability in MS patients IFNβ-treated patients showed a mean MxA mRNA expression , which was 11-fold higher than the level observed with treatment-nave patients and threefold higher than the upper threshold of normal.This result indicates a clear induction of MxA mRNA expression following IFNβ administration. 12601105 Details
mRNA Homo sapiens MS CCR5 Chemokine receptor CCR5 in interferon-treated multiple sclerosis We found a higher percentage of CCR5-positive monocytes in patients than in healthy controls. Increased monocyte expression of CCR5 correlated weakly with an increased short-term relapse risk. 17511851 Details
mRNA Homo sapiens MS RORA Down-regulation of RORA gene expression in the blood of multiple sclerosis patients We found that RORA expression was significantly down-regulated in MS patients compared with controls. 29889063 Details
mRNA Homo sapiens MS MAG Linkage analysis of candidate myelin genes in familial multiple sclerosis Results indicate that MAG gene do not have a significant genetic effect on susceptibility to MS in this population. 10541588 Details
mRNA Homo sapiens MS MBP Linkage analysis of candidate myelin genes in familial multiple sclerosis Results indicate that MBP gene do not have a significant genetic effect on susceptibility to MS in this population. 10541588 Details
mRNA Homo sapiens MS OMG Linkage analysis of candidate myelin genes in familial multiple sclerosis Results indicate that OMGP gene do not have a significant genetic effect on susceptibility to MS in this population. 10541588 Details
mRNA Homo sapiens MS PDXP Linkage analysis of candidate myelin genes in familial multiple sclerosis Results indicate that PLP gene do not have a significant genetic effect on susceptibility to MS in this population. 10541588 Details
mRNA Homo sapiens MS GFI1 Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes The GFI1 promoter interacted with several regions of the intron, interaction that was stronger in the activated than in the control PBMCs.GFI1 is robustly upregulated in activated PBMCs. 21602820 Details
mRNA Homo sapiens MS VRK2 Vaccinia Related Kinase 2 (VRK2) expression in neurological disorders: schizophrenia, epilepsy and multiple sclerosis The result demonstrates that VRK2 gene expression decreased in MS patients as compared with controls. 29100046 Details
mRNA Homo sapiens MS MMP9 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation RT-PCR confirmed statistical differential gene expression of MMP9. 23401127 Details
mRNA Homo sapiens MS PLAU Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation RT-PCR confirmed statistical differential gene expression of PLAU. 23401127 Details
mRNA Homo sapiens MS CXCL8 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation RT-PCR confirmed statistical differential gene expression of IL8. 23401127 Details
mRNA Homo sapiens MS HLA-DRB1 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation HLA-DRB1 was found to have higher expression in the RRMS cases compared to the controls. 23401127 Details
mRNA Homo sapiens MS HLA-DRB5 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation HLA-DRB5 was found to have higher expression in the RRMS cases compared to the controls. 23401127 Details
mRNA Homo sapiens MS HLA-C Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation HLA-C was found to have higher expression in the RRMS cases compared to the controls. 23401127 Details
mRNA Homo sapiens MS HLA-DRB1 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation This gene was also over-expressed in RRMS patients receiving INF-β therapy. 23401127 Details
mRNA Homo sapiens MS HLA-DRB5 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation This gene was also over-expressed in RRMS patients receiving INF-β therapy. 23401127 Details
mRNA Homo sapiens MS HLA-C Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation This gene was also over-expressed in RRMS patients receiving INF-β therapy. 23401127 Details
mRNA Homo sapiens MS HLA-DRB4 Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation This gene was also over-expressed in RRMS patients receiving INF-β therapy. 23401127 Details
mRNA Homo sapiens MS TNFRSF25 Analysis of apoptosis-related genes in patients with clinically isolated syndrome and their association with conversion to multiple sclerosis Higher gene expression levels of TNFRSF25 is detected in the nonconverting CIS group. 25773154 Details
mRNA Homo sapiens MS IKBKE Analysis of apoptosis-related genes in patients with clinically isolated syndrome and their association with conversion to multiple sclerosis Higher gene expression levels of IKBKE is detected in the nonconverting CIS group. 25773154 Details
mRNA Homo sapiens MS NFKBID Analysis of apoptosis-related genes in patients with clinically isolated syndrome and their association with conversion to multiple sclerosis Higher gene expression levels of NFKBID is detected in the nonconverting CIS group. 25773154 Details
mRNA Homo sapiens MS IL1B Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis mRNA levels of IL-1β were significantly higher in RRMS patients compared to HC. 25458313 Details
mRNA Homo sapiens MS IL18 Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis IL-18 mRNA levels did not differ between RRMS patients and controls. 25458313 Details
mRNA Homo sapiens MS NLRP3 Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis NLRP3 mRNA level was significantly higher in RRMS patients compared to HC. 25458313 Details
mRNA Homo sapiens MS CASP1 Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis caspase-1 mRNA level was significantly higher in RRMS patients compared to HC. 25458313 Details
mRNA Homo sapiens MS IL1R1 Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis We also assessed IL-1Ra mRNA levels and these levels did not differ between RRMS patients and HC. 25458313 Details
mRNA Homo sapiens MS FCRL1 MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes Level for this gene was significantly down-regulated in PBMC from patients with MRI phenotypes characterized by high neurodegeneration 26604134 Details
mRNA Homo sapiens MS FCRL2 MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes Level for this gene was significantly down-regulated in PBMC from patients with MRI phenotypes characterized by high neurodegeneration 26604134 Details
mRNA Homo sapiens MS FCRL5 MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes Level for this gene was significantly down-regulated in PBMC from patients with MRI phenotypes characterized by high neurodegeneration 26604134 Details
mRNA Homo sapiens MS CD22 MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes Level for this gene was significantly down-regulated in PBMC from patients with MRI phenotypes characterized by high neurodegeneration 26604134 Details
mRNA Homo sapiens MS APOE AD gene accelerates MS They found that MS patients who also carried the APOE4 gene, had MS an average of three years earlier and suffered a quicker and more serious decline in health. 11311368 Details
mRNA Homo sapiens MS TLR2 Do Antiretroviral Drugs Protect From Multiple Sclerosis by Inhibiting Expression of MS-Associated Retrovirus? TLR2 expression was significantly higher in MS compared to HC, 30740110 Details
mRNA Homo sapiens MS ERVW-1 Do Antiretroviral Drugs Protect From Multiple Sclerosis by Inhibiting Expression of MS-Associated Retrovirus? The expression of MSRV/HERV-Wenv in the MS group was significantly higher compared with HC. 30740110 Details
mRNA Homo sapiens MS TLR4 Do Antiretroviral Drugs Protect From Multiple Sclerosis by Inhibiting Expression of MS-Associated Retrovirus? TLR4 expression was significantly higher in MS compared to HC. 30740110 Details
mRNA Homo sapiens MS YAP1 Gene expression profiles of YAP1, TAZ, CRB3, and VDR in familial and sporadic multiple sclerosis among an Iranian population The familial and sporadic patients displayed a significantly lower level of expression of YAP1 in comparison to the HFR group. 33833274 Details
mRNA Homo sapiens MS WWTR1 Gene expression profiles of YAP1, TAZ, CRB3, and VDR in familial and sporadic multiple sclerosis among an Iranian population There was also an increased expression of TAZ in the familial and HFR groups, as compared to the control group. 33833274 Details
mRNA Homo sapiens MS CRB3 Gene expression profiles of YAP1, TAZ, CRB3, and VDR in familial and sporadic multiple sclerosis among an Iranian population The increased expression level in the sporadic patients and control group, as compared to the HFR group, was seen in CRB3. 33833274 Details
mRNA Homo sapiens MS VDR Gene expression profiles of YAP1, TAZ, CRB3, and VDR in familial and sporadic multiple sclerosis among an Iranian population The results showed the increased expression of VDR in the sporadic group, as compared to other groups. 33833274 Details
mRNA Homo sapiens MS ERVW-1 Comparative expression of human endogenous retrovirus-W genes in multiple sclerosis ERVWE1 env-encoding DNA and RNA exhibited increased detection and expression in the brains of MS patients,while comparable changes in MSRV abundance were not observed. 17961112 Details
mRNA Homo sapiens MS ERVW-1 Quantitative analysis of human endogenous retrovirus-W env in neuroinflammatory diseases Syncytin-1 mRNA exhibited higher levels in MS brains compared to non-MS brains,while the other HERV envs did not exhibit differences between clinical groups.Median syncytin-1 RNA copy numbers were significantly increased in MS brains compared to non-MS brains per/g RNA . 17209768 Details
mRNA Homo sapiens MS VEGFA Vascular endothelial growth factor-A mRNA gene expression in clinical phases of multiple sclerosis Vascular endothelial growth factor A mRNA gene expression level was significantly lower in the multiple sclerosis group than in the healthy control group. 25887968 Details
mRNA Homo sapiens MS VEGFA Vascular endothelial growth factor-A mRNA gene expression in clinical phases of multiple sclerosis There was no correlation between vascular endothelial growth factor A gene expression levels and duration of disease, multiple sclerosis progression index or expanded disability status scale. 25887968 Details
mRNA Homo sapiens MS CLU The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers was found to be considerably elevated when compared to control participants 35594733 Details
mRNA Homo sapiens MS NEFL The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers was found to be considerably elevated when compared to control participants 35594733 Details
mRNA Homo sapiens MS TNF The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers was found to be considerably elevated when compared to control participants 35594733 Details
mRNA Homo sapiens MS MAPT The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers was found to be considerably elevated when compared to control participants 35594733 Details
mRNA Homo sapiens MS IGF1 The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers Expression levels was lower in recruited patients compared to controls. 35594733 Details
mRNA Homo sapiens MS PSEN1 The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers Expression levels was lower in recruited patients compared to controls. 35594733 Details
mRNA Homo sapiens MS CD44 The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers Expression levels was lower in recruited patients compared to controls. 35594733 Details
mRNA Homo sapiens MS APP The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers The expressions was not significantly different in patients with multiple sclerosis compared to controls. 35594733 Details
mRNA Homo sapiens MS AVP The analysis of dynamic gene expression patterns in peripheral blood of multiple sclerosis patients indicates possible diagnostic and prognostic biomarkers The expressions was not significantly different in patients with multiple sclerosis compared to controls. 35594733 Details
mRNA Homo sapiens MS ERVW-1 Multiple sclerosis-associated virus-related pol sequences found both in multiple sclerosis and healthy donors are more frequently expressed in multiple sclerosis patients More frequent expression of MSRV sequences detected in lymphocytes RNA (cDNA), as well as their presence in higher frequency in the serum of MS patients. 12587074 Details
mRNA Homo sapiens MS HLA-DRB1 The HLA-DRB1 risk alleles for multiple sclerosis are differentially expressed in blood cells of patients from Southern Italy The HLA‐DRB1*13 and HLA‐DRB1*11 present a significant increment with respect to non‐MS‐associated alleles, more strong in PBMC from patients compared to healthy controls. 31313885 Details
mRNA Homo sapiens MS MX1 Inverse Relation between MxA Gene Expression and Age in Multiple Sclerosis Patients Reveals a Gender Difference in Response to Interferon Therapy The levels of gene expression were decreased in RRMS patients compared with normal counterparts.This decrease was significant in females compared to males. 28417621 Details
mRNA Homo sapiens MS ERG Investigation of ERG Gene Expression in Iranian Patients with Multiple Sclerosis There was no statistically significant difference in the expression of the ERG between patients and controls. Also, no correlation was detected between the expression of this gene and age of onset, disease duration and Expanded Disability Status Scale. 29488813 Details
mRNA Homo sapiens MS IL2RA Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosis We found that levels of IL2RA expression were significantly higher in PBMCs from MS patients when compared with healthy controls. 28077880 Details
mRNA Homo sapiens MS IL21 Impact of IL-21 Gene Polymorphisms (rs2055979) and the Levels of Serum IL-21 on the Risk of Multiple Sclerosis There was a slight increase in IL-21 serum levels in MS patients, compared to the controls; however, it was not significantly different. 35891764 Details
mRNA Homo sapiens MS CFH Serum complement factor H and Tyr402 His gene polymorphism among Egyptians with multiple sclerosis There was a significant difference in serum CFH levels between the MS and HC groups.Serum CFH level was significantly lower in HC subjects than in each of RRMS, PPMS, SPMS and RPMS subgroups of the MS patients. 26186240 Details
mRNA Homo sapiens MS MIF MIF and D-DT are potential disease severity modifiers in male MS subjects MIF was significantly higher in the plasma of MS subjects compared with HC. 28923927 Details
mRNA Homo sapiens MS MIF MIF and D-DT are potential disease severity modifiers in male MS subjects MIF plasma levels were significantly higher in male progressive MS subjects compared with CIS or RRMS subjects, but only nominally higher compared with HC. 28923927 Details
mRNA Homo sapiens MS DDT MIF and D-DT are potential disease severity modifiers in male MS subjects D-DT levels were also somewhat elevated in MS subjects compared with HC, but this difference did not reach significance. 28923927 Details
mRNA Homo sapiens MS CXCL12 The SDF-1 3'a genetic variation of the chemokine SDF-1α (CXCL12) in parallel with its increased circulating levels is associated with susceptibility to MS: a study on Iranian multiple sclerosis patients Our results showed that serum levels of SDF-1α (CXCL12) were markedly higher in patients than healthy controls. 22125123 Details
mRNA Homo sapiens MS MALAT1 LncRNAs, MALAT1 and lnc-DC as potential biomarkers for multiple sclerosis diagnosis MALAT1 was significantly increased in MS patients in comparison with controls. 30514825 Details
mRNA Homo sapiens MS WFDC21P LncRNAs, MALAT1 and lnc-DC as potential biomarkers for multiple sclerosis diagnosis lnc-DC was significantly increased in MS patients in comparison with controls. 30514825 Details
mRNA Homo sapiens MS MALAT1 LncRNAs, MALAT1 and lnc-DC as potential biomarkers for multiple sclerosis diagnosis The present study showed a significant increase in relative expression of serum MALAT1 in SPMS compared with healthy subjects; however, no significant difference was observed as regards the levels of MALAT1 in RRMS relative to healthy controls. 30514825 Details
mRNA Homo sapiens MS WFDC21P LncRNAs, MALAT1 and lnc-DC as potential biomarkers for multiple sclerosis diagnosis Concerning the serum level of lnc-DC, it was elevated significantly in RRMS patients compared with healthy subjects.Meanwhile, no significant difference between SPMS subgroup and healthy subjects regarding the level of lnc-DC. 30514825 Details
mRNA Homo sapiens MS GGTA1 Are the decrease in circulating anti-α1,3-Gal IgG and the lower content of galactosyl transferase A1 in the microbiota of patients with multiple sclerosis a novel environmental risk factor for the disease? We show that the gut microbiota of MS patients is characterized by a significant decrease in the relative abundance of the enzyme EC 2.4.1.87, which corresponds to the GGTA1 gene. 29195140 Details
mRNA Homo sapiens MS GGTA1 Are the decrease in circulating anti-α1,3-Gal IgG and the lower content of galactosyl transferase A1 in the microbiota of patients with multiple sclerosis a novel environmental risk factor for the disease? We show that the gut microbiota of MS patients is characterized by a significant decrease in the relative abundance of the enzyme EC 2.4.1.87, which corresponds to the GGTA1 gene. 29195140 Details
mRNA Homo sapiens MS MIR155 Genetic association and altered gene expression of mir-155 in multiple sclerosis patients Monitoring for differences in expression levels between cases and controls showed a significant up-regulation of mir-155. 22272099 Details
mRNA Homo sapiens MS MIR19A Genetic association and altered gene expression of mir-155 in multiple sclerosis patients Monitoring for differences in expression levels between cases and controls showed a significant up-regulation of mir-19a. 22272099 Details
mRNA Homo sapiens MS MIRLET7F1 Genetic association and altered gene expression of mir-155 in multiple sclerosis patients Monitoring for differences in expression levels between cases and controls showed a significant up-regulation of let-7f. 22272099 Details
mRNA Homo sapiens MS MIRLET7F2 Genetic association and altered gene expression of mir-155 in multiple sclerosis patients Monitoring for differences in expression levels between cases and controls showed a significant up-regulation of let-7f. 22272099 Details
mRNA Homo sapiens MS USP18 Search for specific biomarkers of IFNβ bioactivity in patients with multiple sclerosis Expression levels for this gene were significantly lower in MS patients compared with controls. 21886806 Details
mRNA Homo sapiens MS IL7R Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis We did not observe a significant difference in expression between the familial patients and healthy individuals (both Control and FDR). 34584155 Details
mRNA Homo sapiens MS NFATc2 Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis There was an increased NFATc2 expression level in MS patients versus healthy controls. 34584155 Details
mRNA Homo sapiens MS RNF213 Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis Our results also represented an increased expression level of RNF213 in familial patients as compared to the control group. 34584155 Details
mRNA Homo sapiens MS THRIL Differential expression of STAT3 gene and its regulatory long non-coding RNAs, namely lnc-DC and THRIL, in two eastern Iranian ethnicities with multiple sclerosis The expression level of THRIL significantly increased in the North Khorasan MS patients while this lncRNA downregulated in the Sistani MS patients in comparison with their respective healthy controls. 31713760 Details
mRNA Homo sapiens MS STAT3 Differential expression of STAT3 gene and its regulatory long non-coding RNAs, namely lnc-DC and THRIL, in two eastern Iranian ethnicities with multiple sclerosis We were not able to find any significant changes in the expression of STAT3 gene in North Khorasan patients, but it was downregulated in Sistani patients in comparison with their respective healthy controls. 31713760 Details
mRNA Homo sapiens MS WFDC21P Differential expression of STAT3 gene and its regulatory long non-coding RNAs, namely lnc-DC and THRIL, in two eastern Iranian ethnicities with multiple sclerosis lnc-DC gene expression level was approximately unchanged in both North and Sistani MS patients when compared with their respective control groups. 31713760 Details
mRNA Homo sapiens N/A TCHH Multiple sclerosis. They show an overactivity of a subset of CD4+ T-helper cells known as Thl cells. 8533414 Details
mRNA Homo sapiens MS EOMES Eomesodermin-expressing T-helper cells are essential for chronic neuroinflammation Proportions (%) of Eomes+CD4+ T cells among CD4+ T cells in RRMS were not significantly different from HCs,the % of Eomes+ T cells was remarkably increased in patients with SPMS.The increase of Eomes+ cells in SPMS was CD4+ T-cell-specific and was not observed in CD4 T cells .Moreover, proportions of Eomes+CD4+ T cells were further enriched in the CSF from patients with SPMS as compared with corresponding blood samples, indicating their propensity for moving to the site of autoimmune inflammation.These results indicate that Eomes+CD4+ T cells may also play a key pathogenic role in SPMS. 26436530 Details
mRNA Homo sapiens MS MIR326 miR-326 and miR-26a, twopotential markers for diagnosis ofrelapse and remission phases in patient with relapsing–remitting multiple sclerosis Our results confirmed potential ofmiR-326 as a diagnostic biomarker to discriminate between relapsing and remitting phases ofmultiple sclerosis disease 24792898 Details
mRNA Homo sapiens MS LASP1 Gene network reveals LASP1, TUBA1C, and S100A6 are likely playing regulatory roles in multiple sclerosis Results from qPCR showed a significant increase (P < 0.05) in LASP1 and S100A6 gene expression levels in MS patients compared to that in controls. 36970516 Details
mRNA Homo sapiens MS TUBA1C Gene network reveals LASP1, TUBA1C, and S100A6 are likely playing regulatory roles in multiple sclerosis Results from qPCR showed a significant increase (P < 0.05) in LASP1 and S100A6 gene expression levels in MS patients compared to that in controls. 36970516 Details
mRNA Homo sapiens MS S100A6 Gene network reveals LASP1, TUBA1C, and S100A6 are likely playing regulatory roles in multiple sclerosis Results from qPCR showed a significant increase (P < 0.05) in LASP1 and S100A6 gene expression levels in MS patients compared to that in controls. 36970516 Details
mRNA Homo sapiens MS MST1R RON-Regulated Innate Immunity Is Protective in an Animal Model of Multiple Sclerosis RON mRNA and protein abundance in the CNS were diminished in both MS patients and the MS animal model, experimental autoimmune encephalomyelitis (EAE) 15929040 Details
mRNA Homo sapiens MS CTLA4 Lack of Association between an Exon 1 CTLA-4 Gene Polymorphism A(49)G and Multiple Sclerosis in a Polish Population of the Lower Silesia Region CTLA-4 plays an important role in the downregulation of the early and late stages of T cell activation and the maintenance of peripheral T cell tolerance 12894875 Details
mRNA Homo sapiens MS HLA-DPB1 HLA-DP-associated susceptibility to the opticespinal form of multiple sclerosis in the Japanese Our data provide further evidence that Asian and Western type MS are distinct regarding the immunogenetic background. 9756407 Details
mRNA Homo sapiens MS HLA-DPA1 HLA-DP-associated susceptibility to the opticespinal form of multiple sclerosis in the Japanese Our data provide further evidence that Asian and Western type MS are distinct regarding the immunogenetic background. 9756407 Details
mRNA Homo sapiens MS BIRC5 Dysregulation of microRNAs regulating survivin in CD4+ T cells in Multiple sclerosis The mRNA of survivin was 2-folds upregulated in the CD4+ T cells from MS patients in comparison to the healthy controls (P= 0.0053). Serum level of survivin was higher in patients than controls. There was statistically significant downregulation of miR-485 (P= 0.001) and miR-708 (P= 0.011) in CD4+ T cells of patients compared with controls. The miR-485 downregulation had statistically significant correlation with the mRNA expression and serum level of survivin. 32599467 Details
mRNA Homo sapiens MS GAPVD1 An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis The results show that the GAPVD1 expression level and rs2291858 genotype probably affect the response to IFN-β in patients with MS. 33548618 Details
mRNA Homo sapiens MS HLA-DRB1 Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15 Analysis of gray matter lesion size revealed a significant increase of cortical lesion size in cases with high HLA-DRB1 expression. 31882398 Details
mRNA Homo sapiens MS CD274 Downregulation of Immunosuppressive Molecules, PD-1 and PD-L1 but not PD-L2, in the Patients with Multiple Sclerosis Relative expression of PD-1 and PD-L1 in PBMCs from MS patients was significantly lower compared with the healthy control group (p=0.003 and 0.012, respectively). 27921410 Details
mRNA Homo sapiens MS PDCD1LG2 Downregulation of Immunosuppressive Molecules, PD-1 and PD-L1 but not PD-L2, in the Patients with Multiple Sclerosis However, no significant difference was observed in the expression level of PD-L2 between patients and healthy individuals 27921410 Details
mRNA Homo sapiens MS MIR326 miR-326 and miR-26a, twopotential markers for diagnosis ofrelapse and remission phases in patient with relapsing–remitting multiple sclerosis Our results confirmed potential ofmiR-326 as a diagnostic biomarker to discriminate between relapsing and remitting phases ofmultiple sclerosis disease 24792898 Details
mRNA Homo sapiens MS MIR26A1 miR-326 and miR-26a, twopotential markers for diagnosis ofrelapse and remission phases in patient with relapsing–remitting multiple sclerosis Similar expression pattern to miR-326 and insilico molecular enrichment analysis altogether suggest an inducing role of miR-26a in differentiation of pathogenic Th17 cells during pathogenesis of multiple sclerosis by targeting major components of the TGF-尾 signaling pathway (i.e. SMAD4 and SMAD1) and disarrangement of this signaling pathway. 24792898 Details
mRNA Homo sapiens MS STAT4 Association of the STAT4 Gene With Increased Susceptibility for Some Immune-Mediated Diseases The STAT4 gene is emerging as a novel common risk factor for diverse complex diseases. 18759272 Details
mRNA Homo sapiens MS SEMA3A Gene expression of semaphorin-3A, semaphorin-7A, neuropilin-1, plexin-C1, and å°¾1 integrin in treated-multiple sclerosis patients Our findings confirm that the presence of Sema3A, Sema7A, and their receptors can play critical roles in the treatment of MS patients. Therefore, they can be potential target molecules for MS treatment in the future. 32497464 Details
mRNA Homo sapiens MS SEMA7A Gene expression of semaphorin-3A, semaphorin-7A, neuropilin-1, plexin-C1, and å°¾1 integrin in treated-multiple sclerosis patients Our findings confirm that the presence of Sema3A, Sema7A, and their receptors can play critical roles in the treatment of MS patients. Therefore, they can be potential target molecules for MS treatment in the future. 32497464 Details
mRNA Homo sapiens MS NRP1 Gene expression of semaphorin-3A, semaphorin-7A, neuropilin-1, plexin-C1, and å°¾1 integrin in treated-multiple sclerosis patients expression of NP-1 (P < 0.001), plexin-C1 (P < 0.001), and å°¾1 integrin (P < 0.05) only increased in patients receiving high-dose IFN-å°¾1a, IFN-å°¾1b, and GA 32497464 Details
mRNA Homo sapiens MS PLXNC1 Gene expression of semaphorin-3A, semaphorin-7A, neuropilin-1, plexin-C1, and å°¾1 integrin in treated-multiple sclerosis patients expression of NP-1 (P < 0.001), plexin-C1 (P < 0.001), and å°¾1 integrin (P < 0.05) only increased in patients receiving high-dose IFN-å°¾1a, IFN-å°¾1b, and GA 32497464 Details
mRNA Homo sapiens MS ITGB1 Gene expression of semaphorin-3A, semaphorin-7A, neuropilin-1, plexin-C1, and å°¾1 integrin in treated-multiple sclerosis patients expression of NP-1 (P < 0.001), plexin-C1 (P < 0.001), and å°¾1 integrin (P < 0.05) only increased in patients receiving high-dose IFN-å°¾1a, IFN-å°¾1b, and GA 32497464 Details
mRNA Homo sapiens MS TNF Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR9 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
mRNA Homo sapiens MS IL6 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR10 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
mRNA Homo sapiens MS TLR9 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR11 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
mRNA Homo sapiens MS IFNA2 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR12 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
mRNA Homo sapiens MS KL Klotho gene expression decreases in peripheral blood mononuclear cells (PBMCs) of patients with relapsing-remitting multiple sclerosis The results showed that klotho gene expression in the PBMCs of patients with RRMS is nearly 2.5-fold less than healthy individuals 28991703 Details
mRNA Homo sapiens MS BDNF Expression Analysis of BDNF Gene and BDNF-as Long Noncoding RNA in Whole Blood Samples of Multiple Sclerosis Patients: Not Always a Negative Correlation between Them We found a strong and positive correlation between BDNF and BDNF-AS in MS patients. This is while no significant difference in BDNF and BDNF-AS expression levels was seen between MS patients and controls 30644699 Details
mRNA Homo sapiens MS BDNF-AS Expression Analysis of BDNF Gene and BDNF-as Long Noncoding RNA in Whole Blood Samples of Multiple Sclerosis Patients: Not Always a Negative Correlation between Them We found a strong and positive correlation between BDNF and BDNF-AS in MS patients. This is while no significant difference in BDNF and BDNF-AS expression levels was seen between MS patients and controls 30644699 Details
mRNA Homo sapiens MS IDO1 Indoleamine 2,3 Dioxygenase (IDO) Expression and Activity in RelapsingRemitting Multiple Sclerosis Measurement of IDO gene expression and activity in blood could be a useful marker to monitor the clinical course of RR-MS. Therapeutic interventions modulating IDO activity may be beneficial in MS 26110930 Details
mRNA Homo sapiens MS CLEC16A The Role of Autoimmunity-Related Gene CLEC16A in the B Cell Receptor Mediated HLA Class II Pathway CLEC16A participates in the BCR-dependent HLA-II pathway in human B cells and that this regulation is impaired during MS disease onset. . 32641384 Details
mRNA Homo sapiens MS HOTAIR HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis expression of HOTAIR and ANRIL is probably not affected by VD and/or inflammation in THP-1 cells in vitro 29030863 Details
mRNA Homo sapiens MS CDKN2B-AS1 HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis expression of HOTAIR and ANRIL is probably not affected by VD and/or inflammation in THP-1 cells in vitro 29030863 Details
mRNA Homo sapiens MS MYC HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis The expression of the VDR and c-Myc genes, two well-known early response genes to VD, were significantly induced after 24 hr of 100 nmol/ml VD exposure 29030863 Details
mRNA Homo sapiens MS VDR HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis The expression of the VDR and c-Myc genes, two well-known early response genes to VD, were significantly induced after 24 hr of 100 nmol/ml VD exposure 29030863 Details
mRNA Homo sapiens MS HLA-DRB1 A study of the HLA-DR region in clinical subgroups of multiple sclerosis and its influence on prognosis No single allele is associated with either a good or poor prognosis 10426152 Details
mRNA Homo sapiens MS BDKRB1 Kinin B1 Receptor Expression on Multiple Sclerosis Mononuclear Cells The time-course kinin B1 –actin mRNA ratio correlated positively with the Expanded Disability Status Scale index (P.001), occurrence ofclinical relapse (P=.02), volume oflesion on T2-weighted images (P.003) and interleukin 2 receptor and major histocompatibility complex class II expressiononCD4lymphocytes,butnotwithgadolinium-enhancing lesions. The time-course kinin B1 – actin mRNA ratios were 5 to 25 times lower in samples derived from healthy controls. 15883268 Details
mRNA Homo sapiens MS IKZF2 Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis a decrease in the frequency of the CD4+CD25+FOXP3+Helios+ Treg population can result in an imbalanced immune system. In other words, one of the immunological mechanisms involved in this disease may be a deficiency in Tregs. Helios gene expression was also decreased in these patients, which may exacerbate functional defects in Tregs. 36738680 Details
mRNA Homo sapiens MS NR4A2 Study of the NR4A family gene expression in patients with multiple sclerosis treated with Fingolimod Gene expression levels of NR4A were down-regulated in T0 patients compared with HCs. Patients treated with Fingolimod for >2 years were characterized by higher levels of NR4A2 compared with the T0 group, approaching those of HCs. NR4A1 and NR4A3 levels were not altered. 30565812 Details
mRNA Homo sapiens MS TUG1 Dysregulation of long non-coding RNA profile in peripheral blood of multiple sclerosis patients TUG1 expression was inversely correlated with disease duration in female patients 30114626 Details
mRNA Homo sapiens MS NEAT1 Dysregulation of long non-coding RNA profile in peripheral blood of multiple sclerosis patients NEAT1 expression was inversely correlated with age at onset and disease duration in female patients. 30114626 Details
mRNA Homo sapiens MS PANDAR Dysregulation of long non-coding RNA profile in peripheral blood of multiple sclerosis patients All three lncRNAs have been significantly over-expressed in MS patients compared with healthy subjects 30114626 Details
mRNA Homo sapiens MS HSPA1B Response to oxidative stress of peripheral blood mononuclear cells from multiple sclerosis patients and healthy controls HSP70-2 does not seem to be central in the protection ofPBMCs 31720998 Details
mRNA Homo sapiens MS ICAM1 Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis the genes encoding ICAM-1 receptors do not influence MS susceptibility or severity. ICAM-1 had a modest, but significant effect on MS genetic susceptibility, independent of HLA and disease severity. 14551606 Details
mRNA Homo sapiens MS DRD2 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS DRD3 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS DRD5 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA1A Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA1B Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA1D Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA2A Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA2B Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRA2C Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRB1 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRB2 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS ADRB3 Dopaminergic receptors and adrenoceptors in circulating lymphocytes as putative biomarkers for the early onset and progression of multiple sclerosis Expression ofseveral DRandAR are upregulated in PBMC, Teffand Treg from CIS subjects. DRD3 and 伪2A-ARmRNA in PBMC, and DR D5 mRNA in Treg correlate with the risk ofMS at 12 months. Results show the involvement of dopaminergic and adrenergic pathways in CIS as well as in MS pathogenesis, supporting the evaluation of dopaminergic and adrenergic agents in MS. 27609280 Details
mRNA Homo sapiens MS MIR106A Identification of hsa-miR-106a-5p as an impact agent on promotion of multiple sclerosis using multi-step data analysis miR-106a-5p may have a biomarker potential to the diagnosis ofMS patients based on its dysregulation patterns. 33452935 Details
mRNA Homo sapiens MS PLP1 Association of New Putative Epitopes of Myelin Proteolipid Protein (58-74) with Pathogenesis of Multiple Sclerosis PLP58-74 can stimulate CD4+ T cells and humoral immunity. Therefore it seems that the epitopes of some microorganisms mimicking PLP such as PLP58-74 might have a potential role in the initiation of MS. 27917626 Details
mRNA Homo sapiens MS CXCR4 Identification of gene expression patterns crucially involved in experimental autoimmune encephalomyelitis and multiple sclerosis Upregulation of CXCR4 mRNA was also observed in white blood cells of individuals with MS with a relapsing-remitting disease course and a secondary chronic progressive disease course 27519689 Details
mRNA Homo sapiens MS ATG5 Elevated ATG5 expression in autoimmune demyelination and multiple sclerosis Atg5 expression was significantly elevated in individuals with active relapsing-remitting MS compared to non-diseased controls 19066443 Details
mRNA Homo sapiens MS RAC1 Tiam1/Rac1 complex controls Il17a transcription and autoimmunity we found that the expression of both Tiam1 and Rac1 is significantly higher in Th17 cells differentiated in vitro according to a standard protocol for 7 days. 27725632 Details
mRNA Homo sapiens MS TIAM1 Tiam1/Rac1 complex controls Il17a transcription and autoimmunity we found that the expression of both Tiam1 and Rac1 is significantly higher in Th17 cells differentiated in vitro according to a standard protocol for 7 days. 27725632 Details
mRNA Homo sapiens MS CD4 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression CD4 and HLA-DRalpha transcripts were dramatically increased in MS as compared with controls 11086101 Details
mRNA Homo sapiens MS HLA-DRA Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression CD4 and HLA-DRalpha transcripts were dramatically increased in MS as compared with controls 11086101 Details
mRNA Homo sapiens MS CCL5 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression Although analysis of cytokine and cytokine receptor genes expression showed predominantly increased levels of several Th1 molecules (TGF-ss, RANTES, and macrophage-inflammatory protein (MIP)-1alpha) in MS samples 11086101 Details
mRNA Homo sapiens MS CCR1 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression Although analysis of cytokine and cytokine receptor genes expression showed predominantly increased levels of several Th1 molecules (TGF-ss, RANTES, and macrophage-inflammatory protein (MIP)-1alpha) in MS samples 11086101 Details
mRNA Homo sapiens MS CCR5 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression Similarly, both proinflammatory type (CCR1, CCR5) and immunomodulatory type (CCR4, CCR8) chemokine receptors were differentially expressed in the MS brain 11086101 Details
mRNA Homo sapiens MS CCR4 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression Similarly, both proinflammatory type (CCR1, CCR5) and immunomodulatory type (CCR4, CCR8) chemokine receptors were differentially expressed in the MS brain 11086101 Details
mRNA Homo sapiens MS CCR8 Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression Similarly, both proinflammatory type (CCR1, CCR5) and immunomodulatory type (CCR4, CCR8) chemokine receptors were differentially expressed in the MS brain 11086101 Details
mRNA Homo sapiens MS STAT1 Analysis of STAT1, STAT2 and STAT3 mRNA expression levels in the blood of patients with multiple sclerosis The results showed that STAT1 gene expression was significantly up-regulated 30412483 Details
mRNA Homo sapiens MS STAT2 Analysis of STAT1, STAT2 and STAT3 mRNA expression levels in the blood of patients with multiple sclerosis whereas STAT2 gene expression was significantly down-regulated (p< 0.0001) in MS patients compared to controls 30412483 Details
mRNA Homo sapiens MS STAT3 Analysis of STAT1, STAT2 and STAT3 mRNA expression levels in the blood of patients with multiple sclerosis there was no significant difference between MS patients and controls for STAT3 gene expression 30412483 Details
mRNA Homo sapiens MS IFNG Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL1B Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL7 Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL10 Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL12A Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL15 Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL23A Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS IL27 Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS LTA Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS LTB Cellular sources of dysregulated cytokines in relapsing-remitting multiple sclerosis RRMS patients had increased expression of IFN-gamma (IFNG), interleukin (IL) 1-beta (IL1B), IL7, IL10, IL12A, IL15, IL23, IL27, lymphotoxin-alpha (LTA) and lymphotoxin-beta (LTB) in WB 22978757 Details
mRNA Homo sapiens MS CLDN11 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 The results of this study showed that the gene expression of Claudin-11 was significantly higher in MS group compared with normal 26768647 Details
mRNA Homo sapiens MS MMP2 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 the MMP-2 pattern was similar to Claudin-11 and correlated positively with it 26768647 Details
mRNA Homo sapiens MS TGFB1 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 although the expressions of TGF-β1 and TGF-β2 are down-regulated in the leukocytes of subjects with MS, they showed higher levels of these cytokines in blood plasma 26768647 Details
mRNA Homo sapiens MS TGFB2 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 although the expressions of TGF-β1 and TGF-β2 are down-regulated in the leukocytes of subjects with MS, they showed higher levels of these cytokines in blood plasma 26768647 Details
mRNA Homo sapiens MS TGFB3 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 there was no significant difference in the expression of TGF-β3 between two groups 26768647 Details
mRNA Homo sapiens MS A2M Increased Pro-Thrombotic Platelet Activity Associated with Thrombin/PAR1-Dependent Pathway Disorder in Patients with Secondary Progressive Multiple Sclerosis The mRNA expression of gene coding α2M was upregulated, whilst ApoA1 was down-regulated, both in platelets and megakaryocytes from MS patients 33086557 Details
mRNA Homo sapiens MS APOA1 Increased Pro-Thrombotic Platelet Activity Associated with Thrombin/PAR1-Dependent Pathway Disorder in Patients with Secondary Progressive Multiple Sclerosis The mRNA expression of gene coding α2M was upregulated, whilst ApoA1 was down-regulated, both in platelets and megakaryocytes from MS patients 33086557 Details
mRNA Homo sapiens MS NR1I2 Increased Pro-Thrombotic Platelet Activity Associated with Thrombin/PAR1-Dependent Pathway Disorder in Patients with Secondary Progressive Multiple Sclerosis Furthermore, we observed an increase in both mRNA expression and surface density of PAR1 in platelets and megakaryocytes in MS compared to controls 33086557 Details
mRNA Homo sapiens MS MIR17 Altered expression of miR-17-5p in CD4+ lymphocytes of relapsing-remitting multiple sclerosis patients Moreover, we found distinct responses of deregulated miRNA to stimulation, i.e. miR-17-5p and miR-193a were strongly up-regulated, in contrast to the down-regulation of miR-497, miR-1 and miR-126 20148420 Details
mRNA Homo sapiens MS MIR193A Altered expression of miR-17-5p in CD4+ lymphocytes of relapsing-remitting multiple sclerosis patients Moreover, we found distinct responses of deregulated miRNA to stimulation, i.e. miR-17-5p and miR-193a were strongly up-regulated, in contrast to the down-regulation of miR-497, miR-1 and miR-126 20148420 Details
mRNA Homo sapiens MS MIR497 Altered expression of miR-17-5p in CD4+ lymphocytes of relapsing-remitting multiple sclerosis patients Moreover, we found distinct responses of deregulated miRNA to stimulation, i.e. miR-17-5p and miR-193a were strongly up-regulated, in contrast to the down-regulation of miR-497, miR-1 and miR-126 20148420 Details
mRNA Homo sapiens MS MIR1-1 Altered expression of miR-17-5p in CD4+ lymphocytes of relapsing-remitting multiple sclerosis patients Moreover, we found distinct responses of deregulated miRNA to stimulation, i.e. miR-17-5p and miR-193a were strongly up-regulated, in contrast to the down-regulation of miR-497, miR-1 and miR-126 20148420 Details
mRNA Homo sapiens MS MIR126 Altered expression of miR-17-5p in CD4+ lymphocytes of relapsing-remitting multiple sclerosis patients Moreover, we found distinct responses of deregulated miRNA to stimulation, i.e. miR-17-5p and miR-193a were strongly up-regulated, in contrast to the down-regulation of miR-497, miR-1 and miR-126 20148420 Details
mRNA Homo sapiens MS VEGFA Upregulation of VEGF-A and correlation between VEGF-A and FLT-1 expressions in Iranian multiple sclerosis patients A significant upregulation of VEGFA expression was observed among MS patients compared with controls 31925615 Details
mRNA Homo sapiens MS FLT1 Upregulation of VEGF-A and correlation between VEGF-A and FLT-1 expressions in Iranian multiple sclerosis patients However, the difference in FLT1 gene expression between study groups was insignificant 31925615 Details
mRNA Homo sapiens MS CD86 Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS Laquinimod did not alter the frequency or viability of circulating monocytes, but led to an upregulation of CD86 expression 33203651 Details
mRNA Homo sapiens MS IL1B Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS LPS-stimulated monocytes of laquinimod-treated patients with MS secreted less IL-1β following a downregulation of IL-1β gene expression 33203651 Details
mRNA Homo sapiens MS TNF Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS The secretion of TNF-α, IL-6, IL-10, and MIP-1β was reduced in LPS-stimulated monocytes of laquinimod-treated patients with MS compared with HDs, but not in comparison to untreated patients with MS 33203651 Details
mRNA Homo sapiens MS IL6 Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS The secretion of TNF-α, IL-6, IL-10, and MIP-1β was reduced in LPS-stimulated monocytes of laquinimod-treated patients with MS compared with HDs, but not in comparison to untreated patients with MS 33203651 Details
mRNA Homo sapiens MS IL10 Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS The secretion of TNF-α, IL-6, IL-10, and MIP-1β was reduced in LPS-stimulated monocytes of laquinimod-treated patients with MS compared with HDs, but not in comparison to untreated patients with MS 33203651 Details
mRNA Homo sapiens MS CCL4 Laquinimod dampens IL-1β signaling and Th17-polarizing capacity of monocytes in patients with MS The secretion of TNF-α, IL-6, IL-10, and MIP-1β was reduced in LPS-stimulated monocytes of laquinimod-treated patients with MS compared with HDs, but not in comparison to untreated patients with MS 33203651 Details
mRNA Homo sapiens MS TRADD FADD is upregulated in relapsing remitting multiple sclerosis The median of TRADD expression was elevated in the patient groups compared to the healthy group, but this was not significant 24603611 Details
mRNA Homo sapiens MS FADD FADD is upregulated in relapsing remitting multiple sclerosis FADD expression was significantly elevated in RR MS patients compared to the other disease courses 24603611 Details
mRNA Homo sapiens MS JUN Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis We observed lower relative expression levels of JUN (P = 0.015) and IRF1 (P = 0.006) in circulating cDC from patients with RRMS compared with cDC from healthy controls 27036414 Details
mRNA Homo sapiens MS IRF1 Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis We observed lower relative expression levels of JUN (P = 0.015) and IRF1 (P = 0.006) in circulating cDC from patients with RRMS compared with cDC from healthy controls 27036414 Details
mRNA Homo sapiens MS IRF7 Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis Our observations demonstrate that the relative expression levels of IRF7 (P = 0.016) and IFNGR1 (P = 0.032) in pDC from patients with RRMS was lower compared with the gene expression level in pDC from healthy controls 27036414 Details
mRNA Homo sapiens MS IFNGR1 Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis Our observations demonstrate that the relative expression levels of IRF7 (P = 0.016) and IFNGR1 (P = 0.032) in pDC from patients with RRMS was lower compared with the gene expression level in pDC from healthy controls 27036414 Details
mRNA Homo sapiens MS TLR4 Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis pDC from patients with RRMS showed an increased relative expression level of TLR4 (P = 0.017) and LY86 (P = 0.020) in comparison with healthy controls 27036414 Details
mRNA Homo sapiens MS LY86 Altered molecular expression of TLR-signaling pathways affects the steady-state release of IL-12p70 and IFN-α in patients with relapsing-remitting multiple sclerosis pDC from patients with RRMS showed an increased relative expression level of TLR4 (P = 0.017) and LY86 (P = 0.020) in comparison with healthy controls 27036414 Details
mRNA Homo sapiens MS LAG3 Fewer LAG-3+ T Cells in Relapsing-Remitting Multiple Sclerosis and Type 1 Diabetes In T cells from subjects with RRMS, LAG3 mRNA expression was less than in resting CD4 (median 2.58-fold) and CD8 T cells (2.16-fold) from HC 35022272 Details
mRNA Homo sapiens MS IL23A IL-23 is increased in dendritic cells in multiple sclerosis and down-regulation of IL-23 by antisense oligos increases dendritic cell IL-10 production We quantified the expression of IL-23 in monocyte-derived DCs in MS patients and healthy donors and found that DCs from MS patients secrete elevated amounts of IL-23 and express increased levels of IL-23p19 mRNA 16751425 Details
mRNA Homo sapiens MS GAS5 LncRNA GAS5 and miR-137 Polymorphisms and Expression are Associated with Multiple Sclerosis Risk: Mechanistic Insights and Potential Clinical Impact Serum GAS5 was upregulated, while serum miR-137 was downregulated in MS compared with the controls. 32348112 Details
mRNA Homo sapiens MS MIR137 LncRNA GAS5 and miR-137 Polymorphisms and Expression are Associated with Multiple Sclerosis Risk: Mechanistic Insights and Potential Clinical Impact Serum GAS5 was upregulated, while serum miR-137 was downregulated in MS compared with the controls. 32348112 Details
mRNA Homo sapiens MS CYP27B1 Vitamin D receptor gene is epigenetically altered and transcriptionally up-regulated in multiple sclerosis VDR mRNA levels are upregulated in RRMS patients compared to healthy controls 28355272 Details
mRNA Homo sapiens MS HBD The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters HBD is one of the remarkably up-regulated genes in the PBMCS of MS patients. HBD is substantially up-regulated in treatment-nave MS patients 34504491 Details
mRNA Homo sapiens MS MIR146A The expression and prognostic value of miR-146a and miR-155 in Turkish patients with multiple sclerosis However, significant dysregulations were identified in miRNA expression in the vitamin D level, EDSS values, and the number of attacks 34503396 Details
mRNA Homo sapiens MS MIR155 The expression and prognostic value of miR-146a and miR-155 in Turkish patients with multiple sclerosis However, significant dysregulations were identified in miRNA expression in the vitamin D level, EDSS values, and the number of attacks 34503396 Details
mRNA Homo sapiens MS RUNX1 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis All measured RNA expression levels were markedly downregulated 36754216 Details
mRNA Homo sapiens MS MAP2 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis All measured RNA expression levels were markedly downregulated 36754216 Details
mRNA Homo sapiens MS NGF Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis All measured RNA expression levels were markedly downregulated 36754216 Details
mRNA Homo sapiens MS BDNF Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis All measured RNA expression levels were markedly downregulated 36754216 Details
mRNA Homo sapiens MS IL10 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis All measured RNA expression levels were markedly downregulated 36754216 Details
mRNA Homo sapiens MS MIR922 Regulated microRNAs in the CSF of patients with multiple sclerosis: a case-control study we quantitatively confirmed miR-922 (p = 0.0001), miR-181c (p = 0.0007), and miR-633 (p = 0.0014) to be differentially regulated in patients with MS as compared with OND 23077021 Details
mRNA Homo sapiens MS MIR181C Regulated microRNAs in the CSF of patients with multiple sclerosis: a case-control study miR-181c and miR-633 differentiated relapsing-remitting from secondary progressive MS courses with specificity up to of 82% and a sensitivity of 69% 23077021 Details
mRNA Homo sapiens MS MIR633 Regulated microRNAs in the CSF of patients with multiple sclerosis: a case-control study miR-181c and miR-633 differentiated relapsing-remitting from secondary progressive MS courses with specificity up to of 82% and a sensitivity of 69% 23077021 Details
mRNA Homo sapiens MS MIR92A1 Circulating microRNAs as biomarkers for disease staging in multiple sclerosis also found miRNAs to be linked to Expanded Disability Status Scale (EDSS). hsa-miR-92a-1* was identified in the largest number of comparisons. 23494648 Details
mRNA Homo sapiens MS MIR454 Circulating microRNAs as biomarkers for disease staging in multiple sclerosis hsa-miR-454 differen 23494648 Details
mRNA Homo sapiens MS NDFIP1 Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients significantly higher levels of NDFIP1 mRNA were found in MS patients compared to healthy controls 34725369 Details
mRNA Homo sapiens MS FOXP3 FOXP3 gene expression in the blood of Iranian multiple sclerosis patients The expression level of FOXP3 gene was not significantly different between MS patients and controls 29526847 Details
mRNA Homo sapiens MS NUPR1 Upregulation of the Stress-Associated Gene p8 in Mouse Models of Demyelination and in Multiple Sclerosis Tissues Real-time PCR analysis revealed a dramatic upregulation of p8 in all plaque tissues tested compared with NAWM and NAGM 16374777 Details
mRNA Homo sapiens MS MBP Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene The results of the present investigation of multiplex families in the western United States show that MS and MBP alleles frequently do not co-segregate. 7683738 Details
mRNA Homo sapiens MS PRKCA Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis well fitting our observation that MS patients have significantly lower PRKCA mRNA levels in blood 25080502 Details
mRNA Homo sapiens MS STAT5A STAT5a and STAT6 gene expression levels in multiple sclerosis patients We found that STAT5a expression was significantly down-regulated (p = .049), whereas STAT6 gene expression was significantly up-regulated (p = .046) in MS patients compared with controls. 29126764 Details
mRNA Homo sapiens MS STAT6 STAT5a and STAT6 gene expression levels in multiple sclerosis patients We found that STAT5a expression was significantly down-regulated (p = .049), whereas STAT6 gene expression was significantly up-regulated (p = .046) in MS patients compared with controls. 29126764 Details
mRNA Homo sapiens MS PPARGC1A Reduced expression of PGC-1a partly underlies mitochondrial changes and correlates with neuronal loss in multiple sclerosis cortex Taken together, our data indicate that reduced neuronal PGC-1a expression in MS cortex partly underlies mitochondrial dysfunction in MS grey matter and thereby contributes to neurodegeneration in MS cortex. 23073717 Details
mRNA Homo sapiens MS SP3 Sp3 Expression in Immune Cells: A Quantitative Study We propose that transcription of the Sp3 gene is blocked in immune cells from most patients with MS and that this contributes to the development of central nervous system inflammation in the disease. 12218073 Details
mRNA Homo sapiens MS TNFRSF11B RANKL/RANK/OPG Axis Is Deregulated in the Cerebrospinal Fluid of Multiple Sclerosis Patients at Clinical Onset Our study revealed that changes of RANKL/RANK/OPG axis are associated with MS, particularly the decreased OPG level in the CSF at disease onset. Therefore, these factors may serve as disease bio-markers and molecular targets of novel therapeutic ap-proaches. 29920500 Details
mRNA Homo sapiens MS TLR4 Differences in metabolite-detecting, adrenergic, and immune gene expression following moderate exercise in chronic fatigue syndrome, multiple sclerosis and healthy controls MS patients had greater post-exercise increases than controls in β-1 and β-2 adrenergic receptor expression (1.4 ± .27 and 1.3 ± .06 fold increase, respectively, p=.02 and <.001) and greater decreases in TLR4 (p=.02). 22210239 Details
mRNA Homo sapiens MS PTPN6 The control of reactive oxygen species production by SHP-1 in oligodendrocytes Furthermore, we demonstrate that SHP-1 is expressed in human white matter oligodendrocytes and there is a subset of multiple sclerosis (MS) subjects that demonstrate a deficiency of SHP-1 in normal appearing white matter (NAWM). 25919645 Details
mRNA Homo sapiens MS PTPN6 Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-κB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS. 19398961 Details
mRNA Homo sapiens MS IL17A Circulating concentrations of interleukin (IL)-17 in patients with multiple sclerosis: Evaluation of the effects of gender, treatment, disease patterns and IL-23 receptor gene polymorphisms These results indicated higher levels of IL-17 in MS patients that may be influenced by disease patterns, medication and gender. No association was observed between investigated SNPs and MS. 28717429 Details
mRNA Homo sapiens MS MIR18A Analysis of MicroRNA-18a Expression in Multiple Sclerosis Patients miR-18a-5p expression was significantly less in MS patients than in healthy subjects. 32582802 Details
mRNA Homo sapiens MS HTN1 Serum Histidine is Lower in Fatigued Women with Multiple Sclerosis These results provide evidence that serum histidine is lower in fatigued women with MS, but the study did not find a relationship between histidine and TNF, IFN-y, or leptin gene expression. 32440368 Details
mRNA Homo sapiens MS CD14 Polymorphisms in CD14 Gene May Modify Soluble CD14 Levels and Represent Risk Factors for Multiple Sclerosis In summary, we conclude that CD14-159 and -260 polymorphisms are associated with the risk of MS in Iranian population and affects CD14 promoter activity, thereby regulating CD14 expression. 27819517 Details
mRNA Homo sapiens MS IL18 Interleukin 18 Polymorphisms and its serum level in Patients with Multiple Sclerosis In this study, we showed the significant higher IL-18 serum level and significant different frequencies of two polymorphisms of IL-18 in MS patients. These results show the important roles of IL-18 in MS pathogenesis. However, more studies are needed to verify our results in larger sample size. 31736573 Details
mRNA Homo sapiens MS IL2 The association of -330 interleukin-2 gene polymorphism with its plasma concentration in Iranian multiple sclerosis patients Accordingly, the plasma levels of IL2 were significantly higher (P < 0.0001) in patients when compared to the control group. In conclusion, in case of MS patients the -330 T/T IL2 genotype is associated with higher plasma levels of IL2. 24959373 Details
mRNA Homo sapiens EAE Ccr2 CCR2+Ly-6Chi monocytes are crucial for the effector phase of autoimmunity in the central nervous system Selective depletion of this specific monocyte subpopulation through engagement of CCR2 strongly reduced central nervous system autoimmunity. 19531531 Details
mRNA Homo sapiens MS MIR26A1 MicroRNA-132 suppresses autoimmune encephalomyelitis by inducing cholinergic anti-inflammation: a new Ahr-based exploration miR26a is Downregulated in MS Patients 25362566 Details
mRNA Homo sapiens MS IL6 MicroRNA-132 suppresses autoimmune encephalomyelitis by inducing cholinergic anti-inflammation: a new Ahr-based exploration IL6 (p \ 0.01, Fig. 1c) were found to increase with lower miR26a expression in PBLs of patients with RRMS or patients with relapsing MS 25362566 Details
mRNA Homo sapiens MS FOXP3 MicroRNA-132 suppresses autoimmune encephalomyelitis by inducing cholinergic anti-inflammation: a new Ahr-based exploration the Foxp3 gene (p \ 0.05, Fig. 1b) showed the same pattern with miR26a. Using 25362566 Details
mRNA Homo sapiens MS HLA-DRB1 Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D It was found that vitamin D specifically interacts with HLA-DRB1*1501 to influence its expression. This study therefore provides more direct support for the already strong epidemiological evidence implicating sunlight and vitamin D in the determination of MS risk, and implies that vitamin D supplementation at critical time periods may be key to disease prevention. 19197344 Details
mRNA Homo sapiens MS STAT1 Deficient Phosphorylation of Stat1 in Leukocytes Identifies Neutralizing Antibodies in Multiple Sclerosis Patients Treated with Interferon-Beta Based on this proof of concept study, we hypothesize that NAb effects can be monitored by evaluation of a single biomarker, pStat1, in either monocytes or T cells by phosphoflow directly after IFN-b administration. The method will significantly reduce cost relative to labor intensive in vitro methods and offers a patient-specific approach to NAb evaluation. 24586361 Details
mRNA Homo sapiens MS CXCL10 Circulating mesenchymal stem cells, stromal derived factor (SDF)-1 and IP-10 levels increased in clinically active multiple sclerosis patients but not in clinically stable patients treated with beta interfero Circulating MSCs, IP-10 and SDF-1α levels, increased in RRMS patients with clinically active not on DMT and IFN-β therapy reduced circulating MSCs and SDF-1α levels. 31421626 Details
mRNA Homo sapiens MS CXCR4 Circulating mesenchymal stem cells, stromal derived factor (SDF)-1 and IP-10 levels increased in clinically active multiple sclerosis patients but not in clinically stable patients treated with beta interfero Circulating MSCs, IP-10 and SDF-1α levels, increased in RRMS patients with clinically active not on DMT and IFN-β therapy reduced circulating MSCs and SDF-1α levels. 31421626 Details
mRNA Homo sapiens MS PINK1-AS Expression analysis of PINK1 and PINK1-AS in multiple sclerosis patients versus healthy subjects Based on the altered expression of PINK1-AS in the peripheral blood of MS patients, PINK1-AS might be a putative culpript in the pathogenesis of MS. We recommend conduction of additional studies to unravel the mechanism of PINK1-AS partake in the MS 33161812 Details
mRNA Homo sapiens MS SGPL1 A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome Among the exclusive binding partners of the risk variant, we describe the novel interaction with sphingosine 1-phosphate lyase (SGPL1)—a key enzyme for the creation of the sphingosine-1 phosphate gradient, which is relevant to the pathogenic process and therapeutic management of MS. 26433934 Details
mRNA Homo sapiens MS EVI5 A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome We further show that an exonic SNP associated with risk induces changes in superficial hydrophobicity patterns of the coiled-coil domain of EVI5, which, in turns, affects the EVI5 interactome. Immunoprecipitation of wild-type and mutated EVI5 followed by mass spectrometry generated a roster of disease-specific interactors functionally linked to lipid metabolism. 26433934 Details
mRNA Homo sapiens MS HSPA5 Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS DDIT3 Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS ATF4 Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS HSP90B1 Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS TP53 Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS CDKN1A Signatures of cell stress and altered bioenergetics in skin fibroblasts from patients with multiple sclerosis We observed endoplasmic reticulum swelling in MS skin fibroblasts, and increased gene expression of cell stress markers including BIP, ATF4, CHOP, GRP94, P53, and P21. 32640422 Details
mRNA Homo sapiens MS CYP27B1 The CYP27B1 variant associated with increased risk of autoimmune disease is underexpressed in tolerising dendritic cells These data support therapeutic approaches aimed at targeting Vitamin D effects on DCs 24158849 Details
mRNA Homo sapiens MS MMP3 Identification of a novel role for matrix metalloproteinase-3 in the modulation of B cell responses in multiple sclerosis Autopsied brain sections from multiple sclerosis patients containing aggregates of B cells expressed a significantly higher amount of matrix metalloproteinase-3 compared to controls 36389698 Details
mRNA Homo sapiens MS HSPA4 Aberrant Stress-Induced Hsp70 Expression in Immune Cells in Multiple Sclerosis These results indicate that immune cells from MS patients are more prone to Hsp70 induction under stress conditions, suggesting a possible link between Hsp70 overexpression and development of auto-immunity. 20806409 Details
mRNA Homo sapiens MS NFE2L2 Redox Imbalance in CD4+ T Cells of Relapsing-Remitting Multiple Sclerosis Patients Furthermore, the catalase expression augmented in patients at the acute phase (P value < 0.05), while an increased expression of SOD1 and Nrf2 was found in RRMS patients at relapse and remission phases (P value < 0.05). 33354282 Details
mRNA Homo sapiens MS SOD1 Redox Imbalance in CD4+ T Cells of Relapsing-Remitting Multiple Sclerosis Patients Furthermore, the catalase expression augmented in patients at the acute phase (P value < 0.05), while an increased expression of SOD1 and Nrf2 was found in RRMS patients at relapse and remission phases (P value < 0.05). 33354282 Details
mRNA Homo sapiens MS CAT Redox Imbalance in CD4+ T Cells of Relapsing-Remitting Multiple Sclerosis Patients Furthermore, the catalase expression augmented in patients at the acute phase (P value < 0.05), while an increased expression of SOD1 and Nrf2 was found in RRMS patients at relapse and remission phases (P value < 0.05). 33354282 Details
mRNA Homo sapiens MS CYBB Redox Imbalance in CD4+ T Cells of Relapsing-Remitting Multiple Sclerosis Patients Furthermore, the catalase expression augmented in patients at the acute phase (P value < 0.05), while an increased expression of SOD1 and Nrf2 was found in RRMS patients at relapse and remission phases (P value < 0.05). 33354282 Details
mRNA Homo sapiens MS LILRA3 Association of multiple sclerosis with ILT6 deficiency ILT6 deficiency is associated with MS in the German population and hence a likely risk factor for autoimmune disorders 15815690 Details
mRNA Homo sapiens MS MPO Immunohistochemical and genetic evidence of myeloperoxidase involvement in multiple sclerosis This is the first evidence that MPO is present in microgliarmacrophages at MS lesions, that MPO gene expression occurs in microglia and that MPO plays a role in MS pathogenesis as shown by the allelic disequilibrium in early onset disease. 9307233 Details
mRNA Homo sapiens MS STAT5A STAT5a and STAT6 gene expression levels in multiple sclerosis patients We found that STAT5a expression was significantly down-regulated (p = .049), whereas STAT6 gene expression was significantly up-regulated (p = .046) in MS patients compared with controls. 29126764 Details
mRNA Homo sapiens MS STAT6 STAT5a and STAT6 gene expression levels in multiple sclerosis patients We found that STAT5a expression was significantly down-regulated (p = .049), whereas STAT6 gene expression was significantly up-regulated (p = .046) in MS patients compared with controls. 29126764 Details
mRNA Homo sapiens MS PPARGC1A Reduced expression of PGC-1a partly underlies mitochondrial changes and correlates with neuronal loss in multiple sclerosis cortex Taken together, our data indicate that reduced neuronal PGC-1a expression in MS cortex partly underlies mitochondrial dysfunction in MS grey matter and thereby contributes to neurodegeneration in MS cortex. 23073717 Details
mRNA Homo sapiens MS SP3 Sp3 Expression in Immune Cells: A Quantitative Study We propose that transcription of the Sp3 gene is blocked in immune cells from most patients with MS and that this contributes to the development of central nervous system inflammation in the disease. 12218073 Details
mRNA Homo sapiens MS TNFRSF11B RANKL/RANK/OPG Axis Is Deregulated in the Cerebrospinal Fluid of Multiple Sclerosis Patients at Clinical Onset Our study revealed that changes of RANKL/RANK/OPG axis are associated with MS, particularly the decreased OPG level in the CSF at disease onset. Therefore, these factors may serve as disease bio-markers and molecular targets of novel therapeutic ap-proaches. 29920500 Details
mRNA Homo sapiens MS TLR4 Differences in metabolite-detecting, adrenergic, and immune gene expression following moderate exercise in chronic fatigue syndrome, multiple sclerosis and healthy controls MS patients had greater post-exercise increases than controls in β-1 and β-2 adrenergic receptor expression (1.4 ± .27 and 1.3 ± .06 fold increase, respectively, p=.02 and <.001) and greater decreases in TLR4 (p=.02). 22210239 Details
mRNA Homo sapiens MS PTPN6 The control of reactive oxygen species production by SHP-1 in oligodendrocytes Furthermore, we demonstrate that SHP-1 is expressed in human white matter oligodendrocytes and there is a subset of multiple sclerosis (MS) subjects that demonstrate a deficiency of SHP-1 in normal appearing white matter (NAWM). 25919645 Details
mRNA Homo sapiens MS PTPN6 Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-κB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS. 19398961 Details
mRNA Homo sapiens MS STAT6 Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-κB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS. 19398961 Details
mRNA Homo sapiens MS STAT1 Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-κB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS. 19398961 Details
mRNA Homo sapiens MS NFKB1 Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-κB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS. 19398961 Details
mRNA Homo sapiens MS TNF Relationship between tumour necrosis factor-alpha (TNFa) production and a specific multiple sclerosis (MS) associated TNF gene haplotype We conclude that whilst a trend exists, we have found no significant association between peripheral TNFa production and a specific MS associated TNF haplotype in this population. Paradoxically this haplotype may also predict a more favourable clinical course 10408716 Details
mRNA Homo sapiens MS SERPINE1 Association between the -844 G>A, HindIII C>G, and 4G/5G PAI-1 Polymorphisms and Susceptibility to Multiple Sclerosis in Western Mexican Population A significant association was found between the CG genotype of the HindIII C>G PAI-1 polymorphism and susceptibility to MS (OR = 1:58, p = 0:03); moreover, the frequency of 5G allele and 5G/5G genotype of the 4G/5G PAI-1 polymorphism was statistically significant (OR = 1:36 and p = 0:04 and OR = 2:43 and p = 0:02, respectively). 31687051 Details
mRNA Homo sapiens MS PRF1 Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, and rs3758562) in 420 patients with MS and 512 controls. 20921521 Details
mRNA Homo sapiens MS FOXP3 Adipocytokine Profile, Cytokine Levels and Foxp3 Expression in Multiple Sclerosis: a Possible Link to Susceptibility and Clinical Course of Disease Also, expression of Foxp3 and levels of visfatin in relapsing remitting-MS(RR-MS) patients were higher compared with the other subgroups. 24098530 Details
mRNA Homo sapiens MS NAMPT Adipocytokine Profile, Cytokine Levels and Foxp3 Expression in Multiple Sclerosis: a Possible Link to Susceptibility and Clinical Course of Disease Also, expression of Foxp3 and levels of visfatin in relapsing remitting-MS(RR-MS) patients were higher compared with the other subgroups. 24098530 Details
mRNA Homo sapiens MS TNF Adipocytokine Profile, Cytokine Levels and Foxp3 Expression in Multiple Sclerosis: a Possible Link to Susceptibility and Clinical Course of Disease In controls, there were positive correlations between circulating leptin and resistin with TNF-α and IL-1β in subgroup analysis, the highest levels of TNF-α, IL-1β, hs-CRP, resistin and leptin were observed in primary progressive-MS (PP-MS) patients. 24098530 Details
mRNA Homo sapiens MS IL1B Adipocytokine Profile, Cytokine Levels and Foxp3 Expression in Multiple Sclerosis: a Possible Link to Susceptibility and Clinical Course of Disease In controls, there were positive correlations between circulating leptin and resistin with TNF-α and IL-1β in subgroup analysis, the highest levels of TNF-α, IL-1β, hs-CRP, resistin and leptin were observed in primary progressive-MS (PP-MS) patients. 24098530 Details
mRNA Homo sapiens MS TNFSF15 Gene expression profiles of TNF-like cytokine 1A (TL1A) and its receptors death receptor 3 (DR3) and decoy receptor 3 (DcR3) in multiple sclerosis Taken together, these findings suggest the TL1A should be evaluated further for its potential as a candidate biomarker of inflammatory activity and the marker of therapeutic response to immunomodulatory treatments in MS. 31445379 Details
mRNA Homo sapiens MS RORC The expression analyses of RMRP, DDX5, and RORC in RRMS patients treated with different drugs versus nave patients and healthy controls Further-more, RMRP has demonstrated moderate positive correlations with the expression of DDX5 and RORC in treated RRMS patients. 33068674 Details
mRNA Homo sapiens MS DDX5 The expression analyses of RMRP, DDX5, and RORC in RRMS patients treated with different drugs versus nave patients and healthy controls Further-more, RMRP has demonstrated moderate positive correlations with the expression of DDX5 and RORC in treated RRMS patients. 33068674 Details
mRNA Homo sapiens MS RMRP The expression analyses of RMRP, DDX5, and RORC in RRMS patients treated with different drugs versus nave patients and healthy controls Among the comparisons of their expressions in the different groups of treated patients with treatment-nave patients, only the down-regulation of the RMRP expression level was significant in IFNβ-1α-treated patients 33068674 Details
mRNA Homo sapiens MS IFNAR2 Soluble Receptor Isoform of IFN-Beta (sIFNAR2) in Multiple Sclerosis Patients and Their Association With the Clinical Response to IFN-Beta Treatment IFN-b administration induces the production of sIFNAR2 in RRMS and higher levels might be associated to the reduction of therapeutic response. Thus, levels of sIFNAR2 could be monitored to optimize an effective response to IFN-b therapy. 34975865 Details
mRNA Homo sapiens MS MIR15A miR-15a and 16-1 Are Downregulated in CD4+ T Cells of Multiple Sclerosis Relapsing Patients Our data suggest that miR-15a/16-1 can also modulate the BCL2 gene expression in CD4+ T cells from RR-MS patients, thereby affecting apoptosis processes 22463747 Details
mRNA Homo sapiens MS MIR16-1 miR-15a and 16-1 Are Downregulated in CD4+ T Cells of Multiple Sclerosis Relapsing Patients Our data suggest that miR-15a/16-1 can also modulate the BCL2 gene expression in CD4+ T cells from RR-MS patients, thereby affecting apoptosis processes 22463747 Details
mRNA Homo sapiens MS BCL2 miR-15a and 16-1 Are Downregulated in CD4+ T Cells of Multiple Sclerosis Relapsing Patients Our data suggest that miR-15a/16-1 can also modulate the BCL2 gene expression in CD4+ T cells from RR-MS patients, thereby affecting apoptosis processes. 22463747 Details
mRNA Homo sapiens MS CTLA4 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS PDCD1 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS HAVCR2 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS LAG3 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS TIGIT Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS HAVCR2 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS LAG3 Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis This is an initial exploration of the utility of CTLA-4, PD-1, TIM-3, LAG-3,and TIGIT expression levels as prognostic indicators in untreated, recently diagnosed multiple sclerosis. 31134049 Details
mRNA Homo sapiens MS MIR29B1 MicroRNA-29b variants and MxA expression change during interferon beta therapy in patients with relapsing-remitting multiple sclerosis Our results might provide fundamentals for the development of new markers of the biological effects of IFN-β therapy 31421628 Details
mRNA Homo sapiens MS IL17A RORct Expression and Lymphoid Neogenesis in the Brain of Patients with Secondary Progressive Multiple Sclerosis Thus, there is selective migration or survival of RORct-positive cells in MS patient meninges and an association of these cells with ELS. 27413074 Details
mRNA Homo sapiens MS RORC RORct Expression and Lymphoid Neogenesis in the Brain of Patients with Secondary Progressive Multiple Sclerosis Thus, there is selective migration or survival of RORct-positive cells in MS patient meninges and an association of these cells with ELS. 27413074 Details
mRNA Homo sapiens MS IL12RB2 Higher expression of IL-12Rβ2 is associated with lower risk of relapse in relapsing–remitting multiple sclerosis patients on interferon-β1b therapy during 3-year follow-up Higher IL-12Rβ2 m R N A l e v e l s were associated with lower risk of relapse. Despite recent reports regarding role of GM-CSF in MS, our study failed to demonstrate its significance as therapy response biomarker, both on the mRNA and protein level. 26439963 Details
mRNA Homo sapiens MS MIR193A Dysregulation of miR-193a serves as a potential contributor to MS pathogenesis via affecting RhoA and Rock1 Results showed that miR-193a was decreased while RhoA and ROCK1 were up-regulated in PBMCs obtained from patients with MS compared to the control group. It was also revealed that miR-193a transfection reduced RhoA and ROCK1 expression at mRNA and protein levels. 36529069 Details
mRNA Homo sapiens MS RHOA Dysregulation of miR-193a serves as a potential contributor to MS pathogenesis via affecting RhoA and Rock1 Results showed that miR-193a was decreased while RhoA and ROCK1 were up-regulated in PBMCs obtained from patients with MS compared to the control group. It was also revealed that miR-193a transfection reduced RhoA and ROCK1 expression at mRNA and protein levels. 36529069 Details
mRNA Homo sapiens MS ROCK1 Dysregulation of miR-193a serves as a potential contributor to MS pathogenesis via affecting RhoA and Rock1 Results showed that miR-193a was decreased while RhoA and ROCK1 were up-regulated in PBMCs obtained from patients with MS compared to the control group. It was also revealed that miR-193a transfection reduced RhoA and ROCK1 expression at mRNA and protein levels. 36529069 Details
mRNA Homo sapiens MS APOE Apolipoprotein E polymorphism in multiple sclerosis We recently demonstrated that apo E con-centrations in cerebrospinal fluid (CSF) and apo E intrathecal synthesis are decreased in MS patients. The reduction of CSF apo E levels may impair myelin repair and influence disease progression in MS patients. 9463752 Details
mRNA Homo sapiens MS TNF Gene polymorphism at position -308 of the tumor-necrosis-factor- (TNF-c ) in Multiple Sclerosis and it's influence on the regulation of TNF-c production Increased TNF-~ levels of cerebrospinal fluid (CSF) and peripheral blood were found in patients with chronic progressive MS and patients with acute relapses, but not in the stable form of the disease. 8887999 Details
mRNA Homo sapiens MS MMP-2 Functional Promoter Polymorphisms of MMP-2 C-735T and MMP-9 C-1562T and Their Synergism with MMP-7 A-181G in Multiple Sclerosis In females the presence of MMP-2 C allele was associated with an increased risk of MS 27409770 Details
mRNA Homo sapiens MS TALDO1 Comparative Analysis of Antibody and Cell-mediated Autoimmunity to Transaldolase and Myelin Basic Protein in Patients with Multiple Sclerosis The results suggest that TAL may be a more potent immunogen than MBP in MS. 9077532 Details
mRNA Homo sapiens MS EIF2B5 Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis In conclusion our study suggests involvement of the EIF2B5 gene in MS development, thus suggesting p.Thr194Ala to be a susceptibility factor for the development of multiple sclerosis. 24980014 Details
mRNA Homo sapiens EAE Kcna3 Voltage Gated Potassium Channel Kv1.3 Is Upregulated on Activated Astrocytes in Experimental Autoimmune Encephalomyelitis Our results support the hypothesis that Kv1.3 may be a therapeutic target of interest for MS and add astrocytes to the list of cells whose activation would be suppressed by inhibiting Kv1.3 in inflammatory conditions. 29574670 Details
mRNA Homo sapiens MS CCR5 CCR5 D32, matrix metalloproteinase-9 and disease activity in multiple sclerosis CCR5 D32, a truncated allele of the CC chemokine receptor CCR5 gene encoding a non-functional receptor, did 10626673 Details
mRNA Homo sapiens MS MMP9 CCR5 D32, matrix metalloproteinase-9 and disease activity in multiple sclerosis High CSF levels of MMP-9 activity were also associated with recurrent disease activity. 10626673 Details
mRNA Homo sapiens MS APOE Preliminary Observations on APOE e4 Allele and Progression of Disability in Multiple Sclerosis These preliminary observations suggest that APOE genotype may influence disease progression in MS.The APOE e4 allele was not associated with an in-creased risk of MS or relapses. 10593303 Details
mRNA Homo sapiens MS WTAP N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS ALKBH5 N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS YTHDF1 N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS HNRNPC N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS YTHDF2 N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS VIRMA N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS METTL3 N6-Methyladenosine RNA modification in cerebrospinal fluid as a novel potential diagnostic biomarker for progressive multiple sclerosis The dynamic modification of m6A RNA methylation is involved in the progression of MS and could potentially represent a novel CSF biomarker for diagnosing MS and distinguishing PMS from RRMS in the early stages of the disease 34294105 Details
mRNA Homo sapiens MS KIR2DL3 Killer immunoglobulin-like receptor locus polymorphisms in multiple sclerosis Absence of the inhibitory KIR2DL3 gene is associated with the development of CIS/CDMS. These findings, if confirmed in larger cohorts, suggest that KIR-mediated recognition of HLA class I molecules should be further explored as potential disease mechanism in MS. 22185807 Details
mRNA Homo sapiens MS CXCR4 Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis RT-qPCR results demonstrated that CXCR4 was obviously up-regulated, while ACTB, RHOA, and ITGAM were down-regulated in MS patient PBMC in comparison with normal samples 33795012 Details
mRNA Homo sapiens MS ACTB Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis RT-qPCR results demonstrated that CXCR4 was obviously up-regulated, while ACTB, RHOA, and ITGAM were down-regulated in MS patient PBMC in comparison with normal samples 33795012 Details
mRNA Homo sapiens MS RHOA Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis RT-qPCR results demonstrated that CXCR4 was obviously up-regulated, while ACTB, RHOA, and ITGAM were down-regulated in MS patient PBMC in comparison with normal samples 33795012 Details
mRNA Homo sapiens MS ITGAM Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis RT-qPCR results demonstrated that CXCR4 was obviously up-regulated, while ACTB, RHOA, and ITGAM were down-regulated in MS patient PBMC in comparison with normal samples 33795012 Details
mRNA Homo sapiens MS IL21 IL-21 and IL-21-producing T cells are involved in multiple sclerosis severity and progression The results of our study suggest a pro-inflammatory and booster role for IL-21 in the MS pathogenesis and progression 31545959 Details
mRNA Homo sapiens MS TOB1 Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological event Finally, a genetic association was observed between TOB1 variation and MS progression in an independent cohort. 18689680 Details
mRNA Homo sapiens MS ATG16L2 Autophagy-related gene16L2, a potential serum biomarker of multiple sclerosis evaluated by bead-based proteomic technology Eleven peptides were significantly different between the two groups with one being identified as a fragment of Atg16L2. 24406150 Details
mRNA Homo sapiens MS CD58 The role of the CD58 locus in multiple sclerosis This protective rs2300747G allele is associated with a dose-dependent increase in CD58 mRNA expression in lymphoblastic cell lines (P ? 1.1 ? 10?10) and in peripheral blood mononuclear cells from MS subjects (P ? 0.0037). 19237575 Details
mRNA Homo sapiens MS MICB MICB Gene Expression on Peripheral Blood Mononuclear Cells and Susceptibility to Multiple Sclerosis in North of Iran It is concluded that the high expression of MICB gene in MS patients is an important criterion of MS disease that it may be due to the interaction between MICB and its receptor on CD8 +T or NK cells. 22184268 Details
mRNA Homo sapiens MS BATF Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS CYP27B1 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS IL12B Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS NFKB1 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS IL7 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS PLEK Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS EVI5 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS TAGAP Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS TYK2 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS RGS1 Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS CLEC16A Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. 25620546 Details
mRNA Homo sapiens MS TCF4 Impaired TIGIT expression on B cells drives circulating follicular helper T cell expansion in multiple sclerosis Most striking was the impaired TIGIT expression on MS-derived B cells mediated by dysregulation of the transcription factor TCF4. Activated circulating Tfh cells (cTfh cells) expressed CD155, the ligand of TIGIT , and TIGIT on B cells revealed their capacity to suppress the proliferation of IL -17–producing cTfh cells via the TIGIT/CD155 axis 36250467 Details
mRNA Homo sapiens MS TIGIT Impaired TIGIT expression on B cells drives circulating follicular helper T cell expansion in multiple sclerosis Most striking was the impaired TIGIT expression on MS-derived B cells mediated by dysregulation of the transcription factor TCF4. Activated circulating Tfh cells (cTfh cells) expressed CD155, the ligand of TIGIT , and TIGIT on B cells revealed their capacity to suppress the proliferation of IL -17–producing cTfh cells via the TIGIT/CD155 axis 36250467 Details
mRNA Homo sapiens MS GATA3 Glatiramer acetate antibodies, gene expression and disease activity in multiple sclerosis High expression of mRNA encoding GATA3 and lymphotoxin-β ( LT-β) was associated with low disease activity in Gd-enhanced MRI studies. 22020419 Details
mRNA Homo sapiens MS LTB Glatiramer acetate antibodies, gene expression and disease activity in multiple sclerosis High expression of mRNA encoding GATA3 and lymphotoxin-β ( LT-β) was associated with low disease activity in Gd-enhanced MRI studies. 22020419 Details
mRNA Homo sapiens EAE MIR181A1 mir-181a-1/b-1 Modulates Tolerance through Opposing Activities in Selection and Peripheral T Cell Function Loss of mir-181a-1/b-1 dampened the induction of experimental autoimmune encephalomyelitis and reduced basal TCR signaling in peripheral T cells and their migration from lymph nodes to pathogenic sites. 26163591 Details
mRNA Homo sapiens MS B4GALT6 Regulation of astrocyte activation by glycolipids drives chronic CNS inflammation We found increased expression of B4GALT5 (2.15±0.28 fold) and B4GALT6 (8.26±2.11 fold) in MS lesions, but not in normal appearing white matter (NAWM) or controls 25216636 Details
mRNA Homo sapiens MS B4GALT5 Regulation of astrocyte activation by glycolipids drives chronic CNS inflammation We found increased expression of B4GALT5 (2.15±0.28 fold) and B4GALT6 (8.26±2.11 fold) in MS lesions, but not in normal appearing white matter (NAWM) or controls 25216636 Details
mRNA Homo sapiens RRMS REG1A Temporal overexpression of IL-22 and Reg3γ differentially impacts the severity of experimental autoimmune encephalomyelitis up-regulation 33876425 Details
mRNA Homo sapiens RRMS EXTL3 Temporal overexpression of IL-22 and Reg3γ differentially impacts the severity of experimental autoimmune encephalomyelitis up-regulation 33876425 Details
mRNA Homo sapiens MS ID2 DNA methylation regulates the expression of the negative transcriptional regulators ID2 and ID4 during OPC differentiation ID2 and ID4 are hypomethylated and display increased expression in MS lesions, compared to controls. 34482420 Details
mRNA Homo sapiens MS ID4 DNA methylation regulates the expression of the negative transcriptional regulators ID2 and ID4 during OPC differentiation ID2 and ID4 are hypomethylated and display increased expression in MS lesions, compared to controls. 34482420 Details
mRNA Homo sapiens MS CYP24A1 VDR and CYP24A1 Expression Analysis in Iranian Relapsing-Remitting Multiple Sclerosis Patients On the other hand, there was a 0.89 times decrease in the expression level of CYP24A1 in RR-MS patients which was not statistically significant. 28836398 Details
mRNA Homo sapiens MS VDR VDR and CYP24A1 Expression Analysis in Iranian Relapsing-Remitting Multiple Sclerosis Patients On the other hand, there was a 0.89 times decrease in the expression level of CYP24A1 in RR-MS patients which was not statistically significant. 28836398 Details
mRNA Homo sapiens MS NLRP3 Association of nod-like receptor protein-3 single nucleotide gene polymorphisms and expression with the susceptibility to relapsing-remitting multiple sclerosis In this study, we found that NLRP3 rs3806265 C allele and CC genotype were significantly more frequent in the RRMS patients (p value = 0.03 OR = 1.66, 95% CI = 1.14-2.43) and p value = 0.04, OR = 3.26, 95% CI = 1.19-8.93, respectively), while the frequency of T allele significantly decreased in controls (p value = 0.03, OR = 0.6, 95% CI = 0.41-0.87). The frequency of CG genotype at position rs10754558 was also significantly higher in the controls compared with patients (p value = 0.03, OR = 0.5, 95% CI = 0.30-0.80). 30264444 Details
mRNA Homo sapiens MS MIR142 MicroRNA-142 regulates inflammation and T cell differentiation in an animal model of multiple sclerosis miR-142 isoforms are upregulated in the CNS of MS patients and animals with EAE 28302134 Details
mRNA Homo sapiens MS SOCS1 MicroRNA-142 regulates inflammation and T cell differentiation in an animal model of multiple sclerosis In human autopsy samples, SOCS1 showed significant reduction in MS samples but the levels of TGFBR1 and TGFBR2 did not differ between MS and control tissues 28302134 Details
mRNA Homo sapiens MS GSDMB The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis Real-time RT-PCR performed on RNA extracted from PBMCs showed a significant upregulation of the GSDMB ecircRNA in MS cases with respect to controls (2.8-fold, p = 0.0011) (Figure 4d). 28272342 Details
mRNA Homo sapiens MS IGKC Upregulation of immunoglobulin-related genes in cortical sections from multiple sclerosis patients A Student's t‐test (P<0.001) confirmed significant upregulation of IGKC, IGHG1 and IGKV41 in MS patients compared with controls. 19919606 Details
mRNA Homo sapiens MS IGHG1 Upregulation of immunoglobulin-related genes in cortical sections from multiple sclerosis patients A Student's t‐test (P<0.001) confirmed significant upregulation of IGKC, IGHG1 and IGKV41 in MS patients compared with controls. 19919606 Details
mRNA Homo sapiens MS IGKV4-1 Upregulation of immunoglobulin-related genes in cortical sections from multiple sclerosis patients A Student's t‐test (P<0.001) confirmed significant upregulation of IGKC, IGHG1 and IGKV41 in MS patients compared with controls. 19919606 Details
mRNA Homo sapiens MS NINJ2 Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis NINJ2 is Down-Regulated after Pro-Inflammatory Stimulation in Monocytes and in THP-1 Cells. 36360183 Details
mRNA Homo sapiens MS MANBA Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation Decreased MANBA Expression and Enzymatic Activity in Lymphocytes from MS Patients Compared to Those from Healthy Controls 35897697 Details
mRNA Homo sapiens MS MIR21 Analysis of miRNA signatures in CSF identifies upregulation of miR-21 and miR-146a/b in patients with multiple sclerosis and active lesions In conclusion, overexpression of miR-21, miR-146a, and miR-146b in cell-free CSF were able to discriminate MS patients with Gd+ lesions in the MRI. 31727077 Details
mRNA Homo sapiens MS IL18 Use of the VH6-1 gene segment to code for anti-interleukin-18 autoantibodies in multiple sclerosis IL-18 concentration in MS patients' sera was higher than in HD, but the level of anti-IL-18 auto-Abs was lower in MS patients. 26743536 Details
mRNA Homo sapiens MS CXCL13 Multiple sclerosis risk genotypes correlate with an elevated cerebrospinal fluid level of the suggested prognostic marker CXCL13 Our results pointed towards a genetic predisposition for increased CXCL13 levels, which in MS patients correlates with the severity of the disease course. 23175382 Details
mRNA Homo sapiens MS MX1 Correlation between anti-interferon-β binding and neutralizing antibodies in interferon-β-treated multiple sclerosis patients Ιn patients with low titres, we suggest to supplement ELISA with measurement of MX1 mRNA to establish whether the bioavailability of IFN-β is preserved. 22564111 Details
mRNA Homo sapiens MS CCL2 Administration of a monomeric CCL2 variant to EAE mice inhibits inflammatory cell recruitment and protects from demyelination and axonal loss CCL2 and CCR2 mRNA are upregulated during EAE/MS. 19232440 Details
mRNA Homo sapiens MS CCR2 Administration of a monomeric CCL2 variant to EAE mice inhibits inflammatory cell recruitment and protects from demyelination and axonal loss CCL2 and CCR2 mRNA are upregulated during EAE/MS. 19232440 Details
mRNA Homo sapiens MS SPP1 Osteopontin levels and increased disease activity in relapsing-remitting multiple sclerosis patients Although no robust relation between OPN and disease activity was observed, these data suggest that OPN levels are elevated prior to increased disease activity in RR MS patients. 15342207 Details
mRNA Homo sapiens MS MAGI2-AS3 MAGI2-AS3 and miR-374b-5p as Putative Regulators of Multiple Sclerosis via Modulating the PTEN/AKT/IRF-3/IFN-β Axis: New Clinical Insights Compared with the healthy control group, serum MAGI2-AS3 and PTEN were downregulated in MS patients, whereas miR-374b-5p, PI3K, AKT, IRF-3, and IFN-β were upregulated in MS patients. 36878000 Details
mRNA Homo sapiens MS MIR374B MAGI2-AS3 and miR-374b-5p as Putative Regulators of Multiple Sclerosis via Modulating the PTEN/AKT/IRF-3/IFN-β Axis: New Clinical Insights Compared with the healthy control group, serum MAGI2-AS3 and PTEN were downregulated in MS patients, whereas miR-374b-5p, PI3K, AKT, IRF-3, and IFN-β were upregulated in MS patients. 36878000 Details
mRNA Homo sapiens MS PTEN MAGI2-AS3 and miR-374b-5p as Putative Regulators of Multiple Sclerosis via Modulating the PTEN/AKT/IRF-3/IFN-β Axis: New Clinical Insights Compared with the healthy control group, serum MAGI2-AS3 and PTEN were downregulated in MS patients, whereas miR-374b-5p, PI3K, AKT, IRF-3, and IFN-β were upregulated in MS patients. 36878000 Details
mRNA Homo sapiens MS IL6 Concomitant Expression of IL-6 and TGF-β Cytokines and their Receptors in Peripheral Blood of Patients with Multiple Sclerosis: The Effects of INFβ Drugs The IL-6 mRNA expression in patients with RRMS was significantly higher than in the controls (p= 0.019). When patients who did not receive any other treatment were compared with the controls, the significant difference was substantial (p=0.006). 35767891 Details
mRNA Homo sapiens MS TGFB1 Concomitant Expression of IL-6 and TGF-β Cytokines and their Receptors in Peripheral Blood of Patients with Multiple Sclerosis: The Effects of INFβ Drugs The TGF-β mRNA expression in patients was lower than in the controls (p = 0.03). 35767891 Details
mRNA Homo sapiens MS MIR20A Expression levels of IL-17/IL-23 cytokine-targeting microRNAs 20, 21, 26, 155, and Let-7 in patients with relapsing-remitting multiple sclerosis Comparison of miRNA expression levels in the peripheral blood samples and MS patients and healthy subjects revealed that the MS patients had significant upregulation of miR-20 and downregulation of miR-26 and miR-155 compared to the control group (p<0.005). 34130607 Details
mRNA Homo sapiens MS TYK2 Down-regulation of TYK2, CBLB and LMP7 genes expression in relapsing-remitting multiple sclerosis patients treated with interferon-beta Significantly down-regulated expression of TYK2, CBLB and LMP7 genes was found in the patients group versus controls. 29157944 Details
mRNA Homo sapiens MS CBLB Down-regulation of TYK2, CBLB and LMP7 genes expression in relapsing-remitting multiple sclerosis patients treated with interferon-beta Significantly down-regulated expression of TYK2, CBLB and LMP7 genes was found in the patients group versus controls. 29157944 Details
mRNA Homo sapiens MS PSMB8 Down-regulation of TYK2, CBLB and LMP7 genes expression in relapsing-remitting multiple sclerosis patients treated with interferon-beta Significantly down-regulated expression of TYK2, CBLB and LMP7 genes was found in the patients group versus controls. 29157944 Details
mRNA Homo sapiens MS VDR The expression of VDR mRNA but not NF-κB surprisingly decreased after vitamin D treatment in multiple sclerosis patients Surprisingly, the expression level of VDR mRNA significantly decreased after 2 months supplementation with VD in our selected patients and in contrast, the level of serum 25(OH) D increased after supplementation. 28576565 Details
mRNA Homo sapiens MS CLEC16A Multiple sclerosis-associated CLEC16A controls HLA class II expression via late endosome biogenesis CLEC16A expression is elevated in peripheral immune cells and brain tissue of multiple sclerosis patients. 25823473 Details
mRNA Homo sapiens MS CX3CL1 The role of fractalkine (CX3CL1) in regulation of CD4(+) cell migration to the central nervous system in patients with relapsing-remitting multiple sclerosis Our results also identified higher CX3XL1 levels in the serum samples from 38 RRMS patients than in 38 HCs and higher serum levels in comparison to the CSF 25596452 Details
mRNA Homo sapiens MS MIR17 Unraveling natalizumab effects on deregulated miR-17 expression in CD4+ T cells of patients with relapsing-remitting multiple sclerosis miR-17 was downregulated under natalizumab treatment and upregulated during relapse, therefore supporting a possible role of miR-17 in MS immunopathogenesis. 24901013 Details
mRNA Homo sapiens MS IL-10 Decreased level of sRAGE in the cerebrospinal fluid of multiple sclerosis patients at clinical onset We found a significantly lower expression of IL-10 (p = 0.031) in the PBMCs of MS patients. 24603633 Details
mRNA Homo sapiens MS TRAF2 TRAF2 is upregulated in relapsing-remitting multiple sclerosis TRAF2 expression was significantly elevated in RRMS patients compared to the other disease courses (p<0.005, respectively) and the control group (p<0.009). 23595117 Details
mRNA Homo sapiens MS VEGFA The expression of VEGF-A is down regulated in peripheral blood mononuclear cells of patients with secondary progressive multiple sclerosis Expression of VEGF-A in CSF cells is reduced in MS patients compared to controls irrespective of disease course. In addition, SPMS patients display reduced VEGF-A mRNA expression in PBMC, which distinguish them from RRMS and controls. 21573104 Details
mRNA Homo sapiens MS PTPN6 Interferon-beta treatment in multiple sclerosis attenuates inflammatory gene expression through inducible activity of the phosphatase SHP-1 SHP-1 mRNA levels in freshly isolated PBMCs were significantly lower in MS patients compared to normal subjects and in vivo IFN-β treatment resulted in a significant increase in SHP-1 mRNA expression. 19559654 Details
mRNA Homo sapiens MS MIR548AC A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene To conclude, the MS-associated haplotype is implicated with significantly decreased CD58 mRNA levels (HapMap cohort and Geuvadis cohort data). 30730892 Details
mRNA Homo sapiens MS CD58 A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene On the other hand, significantly increased levels of hsa-miR-548ac can be seen in risk allele carriers (Geuvadis cohort and MS cohort data). 30730892 Details
mRNA Homo sapiens MS GPR183 EBI2 Expression and Function: Robust in Memory Lymphocytes and Increased by Natalizumab in Multiple Sclerosis We observed that EBI2 is functionally expressed on memory CD4 T cells and is enhanced under natalizumab treatment. 28052250 Details
mRNA Homo sapiens MS CD8A Molecular analysis of the CD8 gene in multiple sclerosis Analysis of DNA fragments of the CD8 gene following digestion with three restriction enzymes showed no differences between patients with chronic progressive multiple sclerosis (MS), familial MS and controls. 2950132 Details
mRNA Homo sapiens MS P2RY12 The Molecular Aspects of Disturbed Platelet Activation through ADP/P2Y12 Pathway in Multiple Sclerosis Simultaneously, the level of relative expression of mRNA transcripts for the P2RY12 gene in megakaryocytes was 85% higher in SP MS compared to the control group 34207429 Details
mRNA Homo sapiens MS SIRPG Altered expression of SIRPγ on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells T-cells from RRMS and T1D patients have significantly reduced SIRPγ expression as compared to HD. 32853219 Details
mRNA Homo sapiens MS NRON LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients In this study, NRON and TUG1 downregulations in MS patients compared with controls were confirmed. 30170791 Details
mRNA Homo sapiens MS TUG1 LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients In this study, NRON and TUG1 downregulations in MS patients compared with controls were confirmed. 30170791 Details
mRNA Homo sapiens MS IL12B An interleukin 12 B single nucleotide polymorphism increases IL-12p40 production and is associated with increased disease susceptibility in patients with relapsing-remitting multiple sclerosis The rs6887695 single-nucleotide polymorphism (SNP) in IL12B gene showed an association with susceptibility to MS 28276258 Details
mRNA Homo sapiens MS DDX39B Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk. 28340352 Details
mRNA Homo sapiens MS CNR1 Regulation of cannabinoid receptor gene expression and endocannabinoid levels in lymphocyte subsets by interferon-β: a longitudinal study in multiple sclerosis patients CB1 expression was elevated in all cell subsets 25169051 Details
mRNA Homo sapiens MS CNR2 Regulation of cannabinoid receptor gene expression and endocannabinoid levels in lymphocyte subsets by interferon-β: a longitudinal study in multiple sclerosis patients Prior to interferon therapy, MS patients showed significantly elevated CB2 expression in B cells, but not in T or NK cells. 25169051 Details
mRNA Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We analyzed our previous data on CTLA-4 protein expression in CD4 T cells freshly obtained from patients with MS in the context of the CTLA-4 gene polymorphisms determined. 19740340 Details
mRNA Homo sapiens MS IL7R Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis We found that CD127 mRNA expression was significantly reduced in whole blood samples from PPMS patients. 17928869 Details
mRNA Homo sapiens MS IL7R Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis As CD127 expression is very low in neutrophils,and neutrophils account for the majority of mRNA in whole blood, we tested peripheral blood mononucleocytes (PBMC) RNA (that is, neutrophil depleted component),and found that CD127 mRNA expression was still much lower in PPMS 17928869 Details
mRNA Homo sapiens MS IFI6 Gene expression profiles in Finnish twins with multiple sclerosis The expression of G1P3 was on average 3.6 times higher in MS twins compared to their healthy siblings, and the results concurred with those obtained from cDNA microarray. 16504146 Details
mRNA Homo sapiens MS IFNG Analysis of an interferon-gamma gene dinucleotide-repeat polymorphism in Nordic multiple sclerosis patients Comparison of IFN-gamma mRNA levels in genotype-conditioned subgroups revealed no significant differences. Thus, alleles at the IFNG intron 1 dinucleotide repeat appear to affect neither MS susceptibility and severity nor IFN-gamma mRNA expression in vivo 11475438 Details
mRNA Homo sapiens MS TNFSF13B Dysregulation of Gene Expressions in Multiple Sclerosis: TNFSF13B and Other Candidate Genes In our study we found that the TNFSF13B expression was upregulated between pedMS and pedHC, but quite similar in the adult groups’comparison (with a possible shift in the opposite direction of changes). 36722235 Details
mRNA Homo sapiens MS IL23A CD4+ and CD25+ T-cell response to short-time interferon-beta therapy on IL10, IL23A and FOXP3 genes in multiple sclerosis patients When we performed RT-PCR for IL23A gene expression profile of CD4+ T cells, it was observed that gene was significantly down-regulated at the 48 hours of drug exposure. 33884734 Details
mRNA Homo sapiens MS IL10 CD4+ and CD25+ T-cell response to short-time interferon-beta therapy on IL10, IL23A and FOXP3 genes in multiple sclerosis patients On the contemporary, IL10 gene expression of CD25+ T cells was gradually decreased, which was also statistically significant. 33884734 Details
mRNA Homo sapiens MS FOXP3 CD4+ and CD25+ T-cell response to short-time interferon-beta therapy on IL10, IL23A and FOXP3 genes in multiple sclerosis patients FOXP3 gene expression in CD4+ was significantly increased at 48 hours post-administration 33884734 Details
mRNA Homo sapiens MS MT-ND6 Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans Similarly, DMF treated MS patients’ shows significant increase in mitochondrial complex subunit expression of mt-ND6 (complex 1), mt-CYB (complex 3), mt-CO2 (complex 4) and mt-ATP6 (complex 5) by 3.13 fold (P < 0.0358, n = 12), 2.87 fold (P < 0.016, n = 12), 2.34 fold (P < 0.041, n = 12) and 3.74 fold (P < 0.014, n = 12) respectively, when normalized to its own baseline. 28460056 Details
mRNA Homo sapiens MS MT-CYB Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans Similarly, DMF treated MS patients’ shows significant increase in mitochondrial complex subunit expression of mt-ND6 (complex 1), mt-CYB (complex 3), mt-CO2 (complex 4) and mt-ATP6 (complex 5) by 3.13 fold (P < 0.0358, n = 12), 2.87 fold (P < 0.016, n = 12), 2.34 fold (P < 0.041, n = 12) and 3.74 fold (P < 0.014, n = 12) respectively, when normalized to its own baseline. 28460056 Details
mRNA Homo sapiens MS MT-CO2 Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans Similarly, DMF treated MS patients’ shows significant increase in mitochondrial complex subunit expression of mt-ND6 (complex 1), mt-CYB (complex 3), mt-CO2 (complex 4) and mt-ATP6 (complex 5) by 3.13 fold (P < 0.0358, n = 12), 2.87 fold (P < 0.016, n = 12), 2.34 fold (P < 0.041, n = 12) and 3.74 fold (P < 0.014, n = 12) respectively, when normalized to its own baseline. 28460056 Details
mRNA Homo sapiens MS MT-ATP6 Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans Similarly, DMF treated MS patients’ shows significant increase in mitochondrial complex subunit expression of mt-ND6 (complex 1), mt-CYB (complex 3), mt-CO2 (complex 4) and mt-ATP6 (complex 5) by 3.13 fold (P < 0.0358, n = 12), 2.87 fold (P < 0.016, n = 12), 2.34 fold (P < 0.041, n = 12) and 3.74 fold (P < 0.014, n = 12) respectively, when normalized to its own baseline. 28460056 Details
mRNA Homo sapiens MS NLRP3 The Effects of IFN-β 1a on the Expression of Inflammasomes and Apoptosis-Associated Speck-Like Proteins in Multiple Sclerosis Patients Analysis of the results before and after therapy with IFN-β 1α in all patients shows significantly decreased expressions of NLRP3, NLRC4, and AIM2. 27032392 Details
mRNA Homo sapiens MS NLRC4 The Effects of IFN-β 1a on the Expression of Inflammasomes and Apoptosis-Associated Speck-Like Proteins in Multiple Sclerosis Patients Analysis of the results before and after therapy with IFN-β 1α in all patients shows significantly decreased expressions of NLRP3, NLRC4, and AIM2. 27032392 Details
mRNA Homo sapiens MS AIM2 The Effects of IFN-β 1a on the Expression of Inflammasomes and Apoptosis-Associated Speck-Like Proteins in Multiple Sclerosis Patients Analysis of the results before and after therapy with IFN-β 1α in all patients shows significantly decreased expressions of NLRP3, NLRC4, and AIM2. 27032392 Details
mRNA Homo sapiens MS NLRP3 The Effects of IFN-β 1a on the Expression of Inflammasomes and Apoptosis-Associated Speck-Like Proteins in Multiple Sclerosis Patients Analysis of the results before and after therapy with IFN-β 1α in all patients shows significantly decreased expressions of NLRP3, NLRC4, and AIM2. 27032392 Details
mRNA Homo sapiens MS SOCS1 SOCS gene family expression profile in the blood of multiple sclerosis patients We observed that SOCS1 and SOCS5 expression was significantly down-regulated. 28196747 Details
mRNA Homo sapiens MS SOCS5 SOCS gene family expression profile in the blood of multiple sclerosis patients We observed that SOCS1 and SOCS5 expression was significantly down-regulated. 28196747 Details
mRNA Homo sapiens MS ZMIZ1 The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis In the Sydney PCR cohort, ZMIZ1 gene expression in whole blood samples was significantly reduced in MS compared to control. 28063629 Details
mRNA Homo sapiens MS IL10 Interleukin-10 but not transforming growth factor-β1 gene expression is up-regulated by vitamin D treatment in multiple sclerosis patients We found that, the expression level of IL-10 gene in treated patients was up-regulated 3.84 times more than before treatment, but the expression level of TGF-β1 was not affected by vitamin D treatment. 25680585 Details
mRNA Homo sapiens MS BACH2 Anti-inflammatory genes associated with multiple sclerosis: a gene expression study Here, a gene expression analysis revealed that three of them, namely BACH2, PTGER4 and ZFP36L1, are down-regulated in MS patients' blood cells compared to healthy subjects. 25670004 Details
mRNA Homo sapiens MS PTGER4 Anti-inflammatory genes associated with multiple sclerosis: a gene expression study Here, a gene expression analysis revealed that three of them, namely BACH2, PTGER4 and ZFP36L1, are down-regulated in MS patients' blood cells compared to healthy subjects. 25670004 Details
mRNA Homo sapiens MS ZFP36L1 Anti-inflammatory genes associated with multiple sclerosis: a gene expression study Here, a gene expression analysis revealed that three of them, namely BACH2, PTGER4 and ZFP36L1, are down-regulated in MS patients' blood cells compared to healthy subjects. 25670004 Details
mRNA Homo sapiens MS MIR27B Micro-RNA dysregulation in multiple sclerosis favours pro-inflammatory T-cell-mediated autoimmunity miR-128 and miR-27b were increased in nave and miR-340 in memory CD4(+) T cells from patients with multiple sclerosis, inhibiting Th2 cell development and favouring pro-inflammatory Th1 responses. 22088562 Details
mRNA Homo sapiens MS MIR128 Micro-RNA dysregulation in multiple sclerosis favours pro-inflammatory T-cell-mediated autoimmunity miR-128 and miR-27b were increased in nave and miR-340 in memory CD4(+) T cells from patients with multiple sclerosis, inhibiting Th2 cell development and favouring pro-inflammatory Th1 responses. 22088562 Details
mRNA Homo sapiens MS MIR340 Micro-RNA dysregulation in multiple sclerosis favours pro-inflammatory T-cell-mediated autoimmunity miR-128 and miR-27b were increased in nave and miR-340 in memory CD4(+) T cells from patients with multiple sclerosis, inhibiting Th2 cell development and favouring pro-inflammatory Th1 responses. 22088562 Details
mRNA Homo sapiens MS ABCB1 ABC-transporter gene-polymorphisms are potential pharmacogenetic markers for mitoxantrone response in multiple sclerosis In conclusion, SNPs in ABC-transporter genes may serve as pharmacogenetic markers associated with clinical response to MX therapy in multiple sclerosis. 19605531 Details
mRNA Homo sapiens MS ABCG2 ABC-transporter gene-polymorphisms are potential pharmacogenetic markers for mitoxantrone response in multiple sclerosis In conclusion, SNPs in ABC-transporter genes may serve as pharmacogenetic markers associated with clinical response to MX therapy in multiple sclerosis. 19605531 Details
mRNA Homo sapiens MS HLA-DPB1 HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies The marked differences in the clinical and MRI findings as well as in the immunogenetic backgrounds between the opticospinal multiple sclerosis and Western-type multiple sclerosis together suggest that HLA-DPB1*0501-associated opticospinal multiple sclerosis is a distinct subtype of multiple sclerosis. 10468508 Details
mRNA Homo sapiens MS ERVW-1 Quantitative expression of the HERV-W env gene in human tissues In silico expression data indicated that 14 complete HERV-W families from human chromosomes 1, 2, 4, 7, 8, 11, 13, 15, and Y are randomly expressed in various cancer tissues. HERV-Wenv transcripts did not show significant differences among the human tumor/normal adjacent tissues (colon, liver, uterus, breast, and stomach). Quantitative real-time RT-PCR analysis indicated that strong expression of the HERV-W env gene was detected in the cerebral cortex and pons of the human brain. 18604468 Details
mRNA Homo sapiens MS ERVW-1 A Novel, Highly Selective RT-QPCR Method for Quantification of MSRV Using PNA Clamping Syncytin-1 (ERVWE1) Using our newly developed method we confirmed that the expression of MSRV takes place in normal human astrocytes and in human umbilical vein endothelial cells in vitro. We also found that the stimulation of human monocytes did not influence the specific expression of MSRV but it caused changes in mRNA level of distinct HERV-W templates 25976174 Details
mRNA Homo sapiens MS SIL1 Relationship Between Measles HI Titers and an MS Susceptibility Gene Results revealed that the mean titer to measles was not different between (+) and (-) controls, and that MS cases had significantly higher titers than both control groups combined 6162924 Details
mRNA Homo sapiens EAE CD4 Study of Disabling T-Cell Activation and Inhibiting T-Cell-Mediated Immunopathology Reveals a Possible Inverse Agonist Activity of CD4 Peptidomimetics We propose that CD4-Cys and CD4-Ser are classical antagonists, but CD4-Met may possess properties of an inverse agonist. The structure– activity relationship of mimetics reveals that a minor change in the net hydropathic value is enough to alter the dynamic nature of the receptor– ligand complex 12231211 Details
mRNA Homo sapiens MS TNF High frequency of TNF alleles -238A and -376A in individuals from northern Sardinia These findings indicate that Sardinia is an ideal location to further elucidate the correlation between TNF or HLA polymorphisms and diseases, including multiple sclerosis and type-I diabetes, present with an unusually high frequency and co-morbidity in Sardinia 15149631 Details
mRNA Homo sapiens MS SELPLG P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis As this allele has been demonstrated to have a very low efficiency in mediating lymphocyte binding to brain endothelium during attacks, its high frequency in PP-MS could be related to the absence of exacerbations in such patients 16039046 Details
mRNA Homo sapiens MS MTHFR Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis We tested DNA from Australian MS patients and unaffected control subjects, matched for gender, age and ethnicity. Specifically, we genotyped the MTHFR C677T and the COMT G158A mutations. Genotype distributions showed that the homozygous mutant MTHFR genotype (T/T) and the COMT (H/H) genotype were slightly over-represented in the MS group (16% versus 11% and 24% versus 19%, respectively), but both variations failed to reach statistical significance (P = 0.15 and P = 0.32, respectively). Hence, results from the present study do not support a major role for either functional gene mutation in MS susceptibility 16564429 Details
mRNA Homo sapiens MS DCTN1 The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis The results indicate that the DCTN1 gene is probably not influencing susceptibility to neurodegeneration in MS 17824900 Details
mRNA Homo sapiens MS CCL14 CCL genes in multiple sclerosis and systemic lupus erythematosus this study reveals strong associations with a marker and a haplotype encompassing the CCL14 gene, which suggests that a lupus relevant variant may lie within or in the proximity of this haplotype 18602166 Details
mRNA Homo sapiens MS IFNAR1 The Role of Endogenous IFN-b in the Regulation of Th17 Responses in Patients with Relapsing-Remitting Multiple Sclerosis In vivo recombinant IFN-b–1a treatment induced IFNAR1 and its downstream signaling molecules’ gene expression, suggesting that treatment reconstitutes a deficient endogenous IFN-b regulation of the CD4+ T cells’ pathogenic cytokine production in patients with MS. 24850724 Details
mRNA Homo sapiens MS TNFSF10 Role of serum TRAIL level and TRAIL apoptosis gene expression in multiple sclerosis and relation to brain atrophy No significant correlation was detected between the serum TRAIL level and the TRAIL mRNA expression ratio in either group. No statistically significant correlation was found between serum TRAIL levels or the TRAIL mRNA expression ratio with the number of black holes or the bicaudate ratio on MRI. Apoptosis of T lymphocytes is decreased in MS patients, which could be useful when designing treatments. There was no difference in the TRAIL mRNA gene expression ratio between MS patients and controls 24913933 Details
mRNA Homo sapiens MS DROSHA Overexpression of microRNA biogenesis machinery: Drosha, DGCR8 and Dicer in multiple sclerosis patients The expression levels of these components in relapsing remitting multiple sclerosis (RRMS) patients were significantly up-regulated in comparison to healthy controls. DGCR8 was up-regulated 4.9 times in RRMS patients versus healthy controls, and Drosha was up-regulated 3.58 times. Additionally, the expression level of Dicer was 2.11 times higher in RRMS patients than the healthy controls. In conclusion, our results suggest that overexpression of Drosha, Dicer and DGCR8 may contribute to the pathogenesis of MS. Further investigation may introduce microRNA biogenesis machinery as MS markers and therapeutic targets 25439752 Details
mRNA Homo sapiens MS DICER1 Overexpression of microRNA biogenesis machinery: Drosha, DGCR8 and Dicer in multiple sclerosis patients The expression levels of these components in relapsing remitting multiple sclerosis (RRMS) patients were significantly up-regulated in comparison to healthy controls. DGCR8 was up-regulated 4.9 times in RRMS patients versus healthy controls, and Drosha was up-regulated 3.58 times. Additionally, the expression level of Dicer was 2.11 times higher in RRMS patients than the healthy controls. In conclusion, our results suggest that overexpression of Drosha, Dicer and DGCR8 may contribute to the pathogenesis of MS. Further investigation may introduce microRNA biogenesis machinery as MS markers and therapeutic targets 25439752 Details
mRNA Homo sapiens MS DGCR8 Overexpression of microRNA biogenesis machinery: Drosha, DGCR8 and Dicer in multiple sclerosis patients The expression levels of these components in relapsing remitting multiple sclerosis (RRMS) patients were significantly up-regulated in comparison to healthy controls. DGCR8 was up-regulated 4.9 times in RRMS patients versus healthy controls, and Drosha was up-regulated 3.58 times. Additionally, the expression level of Dicer was 2.11 times higher in RRMS patients than the healthy controls. In conclusion, our results suggest that overexpression of Drosha, Dicer and DGCR8 may contribute to the pathogenesis of MS. Further investigation may introduce microRNA biogenesis machinery as MS markers and therapeutic targets 25439752 Details
mRNA Homo sapiens MS VDR Vitamin D receptor biochemical and genetic profiling and HLA-class II genotyping among Lebanese with multiple sclerosis — A pilot study Healthy and non-MS groups had comparable parameters and were combined into one control group. No significant differences were found between MS and control groups for VDR genotypes. The frequency of HLADRB1*15 was significantly higher in MS patients (22%) compared to controls (8%) (p = 0.018). Odds ratio for MS in the presence of DRB1*15 allele was 3.21 (p = 0.018). Cosegregation with A (ApaI) and b (BsmI) alleles did not influence the risk for MS. 25OHD levels were significantly higher in MS patients compared to controls (p = 0.002), due to more frequent oral supplementation (p = 0.005). Vitamin A levels were comparable between the two groups. When all parameters were included in a logistic regression model adjusted for supplementation, only HLA-DRB1*15 (OR = 3.42; p = 0.027) contributed significantly to MS risk.There was no association between serum vitamin D or A or VDR genotypes and MS. HLA-DRB1*15 was the major factor imposing more than 3 folds greater risk for developing MS among Lebanese 27049563 Details
mRNA Homo sapiens MS CD40LG T-cell activation and HLA-regulated response to smoking in the deep airways of patients with multiple sclerosis our results confirm that smoking induces an increase of alveolar macrophages in BAL, and further defined a significant attenuation of this response in carriers of the HLA-DRB1*15 allele, in both MS patients and healthy controls. This first systematic investigation of the immune response in the lungs of smokers and non-smokers diagnosed with MS, thus suggests an MS-associated lung T-cell phenotype, involvement of a specific T-cell response to smoke, and a genetic regulation of the macrophage response 27339331 Details
mRNA Homo sapiens MS CYP27B1 Down-regulation of CYP27B1 gene expression in Iranian patients with relapsing-remitting multiple sclerosis A significant decrease in the expression level of CYP27A1 in female patients could indicate their greater vulnerability to MS than the male patients 27792005 Details
mRNA Homo sapiens MS TBX21 Immunoregulatory Effects of Silymarin on Proliferation and Activation of Th1 Cells Isolated from Newly Diagnosed and IFN-1b-Treated MS Patients IFN-γ level at a concentration of 100 μM in comparison with DMSO. Our findings here clearly show that silymarin is an effective regulator for Th1 response in vitro condition. It not only suppresses Th1 proliferating activity but also inhibits T-bet gene expression and IFN-γ production by these cells 30178232 Details
mRNA Homo sapiens MS ERMN Down-regulation of ERMN expression in relapsing remitting multiple sclerosis The results showed a significant decrease in ERMN expression (p = 0.022); whereas, no significant difference was detected in LTN1 expression between two groups (p = 0.935). The reduction in ERMN expression in leukocytes could be the cause of demyelinating process in RR-MS patients. Current findings might also have practical importance in prognosis and targeted therapies. 31123898 Details
mRNA Homo sapiens MS MBP PURIFICATION OF IMMUNOLOGICALLY ACTIVE RECOMBINANT 21.5 kDa ISOFORM OF HUMAN MYELIN BASIC PROTEIN the results presented here demonstrate the expression and purification of immunologically active recombinant MBP21.5. Like naturally-derived MBP, recombinant MBP21.5 can be processed by APCs with various antigenic epitopes displayed to human T cells 8544862 Details
mRNA Homo sapiens MS CD40 Critical Role of Tumor Necrosis Factor-a and NF-B in Interferon-+-induced CD40 Expression in Microglia/Macrophages IFN-r treatment leads to the activation of NF-B in a time-dependent manner, which is inhibited in the presence of anti-TNF-β-neutralizing antibody. These results indicate that IFN-+-induced TNF-β production and subsequent NF-B activation are integral parts of the mechanism of IFN-+-induced CD40 expression 11830590 Details
mRNA Homo sapiens MS MBP Expression of Green Fluorescent Protein in Oligodendrocytes in a Time- and LevelControllable Fashion with a TetracyclineRegulated System Our data indicate that this inducible gene expression system is useful for the study of gene function in vivo and for the development of transgenic animal models relevant to human diseases such as multiple sclerosis 10203578 Details
mRNA Homo sapiens MS CCR2 A Highly Selective CCR2 Chemokine Agonist Encoded by Human Herpesvirus 6 It is suggested that vCCL4 during reactivation of the virus in for example monocyte-derived microglia could perhaps be involved in the pathogenesis of the CCR2-dependent disease, multiple sclerosis 12554737 Details
mRNA Homo sapiens MS FGF2 Inducible expression of FGF2 by a rat oligodendrocyte precursor cell line promotes CNS myelination in vitro The data presented here demonstrate that upon induction with Dox, CG4-FGF2 cells retain their capacity to differentiate in vitro. Additionally, we provide evidence that FGF2 release by engineered cells enhance proliferation and migration of cells of the oligodendrocyte lineage without preventing them to differentiate and myelinate axons in vitro 14769383 Details
mRNA Homo sapiens MS NOS2 Role of protein kinase R in double-stranded RNA-induced expression of nitric oxide synthase in human astroglia This study delineates a novel role of dsRNA in inducing the expression of iNOS through dsRNAactivated protein kinase (PKR)-mediated activation of NF-UB and p38-mediated activation of C/EBPL in human astroglia that may participate in virus-induced neurological abnormalities 15063753 Details
mRNA Homo sapiens MS RGCC Dual role of Response gene to complement-32 in multiple sclerosis Our data suggest that RGC-32 plays a dual role in MS, both as a regulator of T-cells mediated apoptosis and as a promoter of TGF-β-mediated profibrotic effects in astrocytes 23000427 Details
mRNA Homo sapiens MS APOD Binding and Repressive Activities of Apolipoprotein E3 and E4 Isoforms on the Human ApoD Promoter we observed an inverse correlation between ApoD and ApoE mRNA expression during development and in several regions of the mouse brain, notably in the cortex, hippocampus, plexus choroid, and cerebellum. This negative correlation was also observed for cortex layers IV–VI based on a new Transcriptomic Atlas of the Mouse Neocortical Layers. These findings reveal a new function for ApoE by regulating ApoD gene expression 23715769 Details
mRNA Homo sapiens EAE Procr Protein C receptor (PROCR) is a negative regulator of Th17 pathogenicity T cell–specific deficiency of PROCR resulted in the exacerbation of experimental autoimmune encephalomyelitis (EAE) and higher frequencies of Th17 cell in vivo, indicating that PROCR also inhibits pathogenicity of Th17 cells in vivo. PROCR thus does not globally inhibit Th17 responses but could be targeted to selectively inhibit proinflammatory Th17 cells 27670590 Details
mRNA Homo sapiens MS PTPRC PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients The 77C→G transition in exon 4 of the PTPRC gene may contribute to MS susceptibility only in very few families, if at all, but it is not relevant for the majority of MS cases, including virtually all German patients 12028593 Details
mRNA Homo sapiens MS、hereditary spastic paraplegia SPG11 “Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia The ears of the lynx sign on FLAIR MR imaging is highly specific for the most common genetic subtypes of hereditary spastic paraplegia with a thin corpus callosum. When this sign is present, there is a high likelihood of a genetic mutation, particularly associated with SPG11 or SPG15, even in the absence of a family history. 30606727 Details
mRNA Homo sapiens MS、EAE CDR3 Detection of Human T Lymphotrophic Virus Type I (HTLV-I) Proviral DNA and Analysis of T Cell Receptor VB CDR3 Sequences in Spinal Cord Lesions of HTLV-I-associated Myelopathy/Tropical Spastic Paraparesis The present results suggest that T cells containing restricted V3 CDK3 motifs, which are also found in MS and EAE, become activated upon HTLV-I infection and infiltrate into the spinal cord lesions of HAM/TSP patients. 8064235 Details
mRNA Homo sapiens MS NFATC2 TNF-a Contributes to Caspase-3 Independent Apoptosis in Neuroblastoma Cells: Role of NFAT These data demonstrate that TNF-a promotes FasL expression through NFAT activation in neuroblastoma cells and this event leads to increased apoptosis through independent caspase-3 activation. 21298033 Details
mRNA Homo sapiens MS BDNF Title: Elevation of Ser9 phosphorylation of GSK3 is required for HERV-W env-mediated BDNF signaling in human U251 cells These results indicated that phosphorylation of GSK3β at Ser9 might be involved in HERV-W env-induced BDNF expression, and will hopefully improve our understanding of the role of HERV-W env in neurological and psychiatric diseases 27235578 Details
mRNA Homo sapiens MS TREM1 TREM2 expression in the brain and biological fuids in prion diseases sTREM2 in the CSF of cases with Alzheimer’s disease, and multiple sclerosis was not signifcantly altered in our series 33881612 Details
mRNA Homo sapiens MS RORC Immunologic and MRI markers of the therapeutic effect of IFN-b-1a in relapsing-remitting MS Findings indicate that IFN-b-1a suppresses Th22 and Th17 cell responses, which were associated with decreased MRI-detectable demyelination 26601116 Details
mRNA Homo sapiens MS IFNAR2 Inhibition of G-Protein βγ Signaling Decreases Levels of Messenger RNAs Encoding Proinflammatory Cytokines in T Cell Receptor-Stimulated CD4+ T Helper Cells Inhibiting Gβγ to produce these shifts in cytokine mRNA production might be beneficial for patients with autoimmune diseases such as rheumatoid arthritis (RA), Crohn’s disease (CD), psoriasis, multiple sclerosis (MS), and Hashimoto’s thyroiditis (HT), in which both IFN-γ and IL-17A are elevated. 27095999 Details
mRNA Homo sapiens MS P2RY12 Purinergic Receptor Expression and Potential Association with Human Embryonic Stem Cell-Derived Oligodendrocyte Progenitor Cell Development Elucidation of the expression pattern of purinergic receptors and the effects of different subtypes of these receptors in hESC-OPCs may have a promising role in future cell-based therapy or drug design for demyelinating disease. 28836401 Details
mRNA Homo sapiens chronic neurodegenerative diseases (e.g., Alzheimer′s disease, Parkinson′s disease, multiple sclerosis, amyotrophic lateral sclerosis) AKT1 LXW7 attenuates inflammation via suppressing Akt/nuclear factor kappa B and mitogen-activated protein kinases signaling pathways in lipopolysaccharide-stimulated BV2 microglial cells The anti-inflammatory effects of LXW7 may be associated with the inhibition of microglial activation via Akt/NF-κB and JNK/MAPK signaling pathways by blocking integrin αvβ3 receptor. The present study′s findings suggest that LXW7 has a substantial therapeutic potential for treating inflammatory and neurodegenerative diseases. 31732449 Details
mRNA Homo sapiens MS AR X Chromosome Inactivation Patterns Correlate with Fetal-Placental Anatomy in Monozygotic Twin Pairs: Implications for Immune Relatedness and Concordance for Autoimmunity We found a strong correlation between dichorionic fetal anatomy and differences in X chromosome inactivation patterns between members of an MZ twin pair. In contrast, all monochorionic twin pairs had closely correlated patterns of X chromosome inactivation. X chromosome inactivation patterns did not distinguish between MZ twin pairs who were concordant or discordant for autoimmune disease 8790602 Details
mRNA Homo sapiens MS CCL5 Glatiramer acetate inhibition of tumor necrosis factor-a-induced RANTES expression and release from U-251 MG human astrocytic cells glatiramer acetate may exert its therapeutic effect in MS partially through inhibiting NF-kB activation and chemokine production 11389171 Details
mRNA Homo sapiens MS CCL5 Comparison of RANTES chemokine induction by Thl cytokines in human astroglial cell lines U-105MG cells treated with TNF-a and IL-l alone or in combination markedly induced increases in the rate of transcription of the RANTES chemokine gene 11408956 Details
mRNA Homo sapiens multiple sclerosis, psoriasis and type 1 diabetes IL2 Clofazimine Inhibits Human Kv1.3 Potassium Channel by Perturbing Calcium Oscillation in T Lymphocytes clofazimine is a promising immunomodulatory drug candidate for treating a variety of autoimmune disorders. 19104661 Details
mRNA Homo sapiens multiple sclerosis or traumas such as spinal cord injury OLIG2 Production and isolation of NG2+ oligodendrocyte precursors from human embryonic stem cells in defined serum-free medium OPCs were differentiated as spheres in defined serum-free medium supplemented with recombinant human growth factors. A broad gene expression analysis revealed that this OPC population expressed Olig1/2, Sox10, PDGFR, Nkx2.2, Nkx6.2, oligodendrocyte-myelin glycoprotein, myelin basic protein (MBP), and proteolipid protein (PLP). According to quantitative RTPCR analyses addition of ciliary neurotrophic factor (CNTF) upregulated the Olig2 mRNA levels in the OPC population. According to the flow cytometry analyses the OPC population was N90% NG2-positive, N80% PDGFR-positive, and N60% CD44-positive, and further matured into O4- (45%) and GalC- (80%) positive oligodendrocyte populations when cultured on top of human extracellular matrix proteins, which were used instead of Matrigel. In addition, OPCs matured into myelin-forming cells when cocultured with neuronal cells. 20538536 Details
mRNA Homo sapiens MS TLR4 Human Endogenous Retrovirus Type W Envelope Protein Inhibits Oligodendroglial Precursor Cell Differentiation We demonstrated that the ENV protein is present in close proximity to TLR4-expressing oligodendroglial precursor cells adjacent to multiple sclerosis lesions. Human and rat oligodendroglial precursor cells expressed TLR4, and the ENV-mediated activation of TLR4 led to the induction of proinflammatory cytokines and inducible nitric oxide synthase as well as the formation of nitrotyrosine groups and a subsequent reduction in myelin protein expression.Interpretation: Our findings suggest that ENV-mediated induction of nitrosative stress via activation of TLR4 results in an overall reduction of the oligodendroglial differentiation capacity, thereby contributing to remyelination failure.Therefore, pharmacological or antibody-mediated inhibition of ENV may prevent the blockade of myelin repair in the diseased or injured central nervous system. 23836485 Details
mRNA Homo sapiens MS IL-10 Direct immunomodulatory influence of IFN-b on human astrocytoma cells We found a significant dose-dependent increase in IL-10 gene expression in A172 and 1321N1 cells treated with IFN-b or LPS/IFN-g/IFN-b. Moreover, a significant decrease was observed in iNOS expression suggesting a similar mechanism of action for both cells. Eventually there were no significant changes concerning the modulation of the MMP-9 and TIMP-1 in response to IFN-b treatment. In part, the immunomodulatory effect of IFN-b may be due to increase of IL-10 and suppression of iNOS expression in astrocytes of brain tissue. 25689952 Details
mRNA Homo sapiens MS NOS2 Direct immunomodulatory influence of IFN-b on human astrocytoma cells We found a significant dose-dependent increase in IL-10 gene expression in A172 and 1321N1 cells treated with IFN-b or LPS/IFN-g/IFN-b. Moreover, a significant decrease was observed in iNOS expression suggesting a similar mechanism of action for both cells. Eventually there were no significant changes concerning the modulation of the MMP-9 and TIMP-1 in response to IFN-b treatment. In part, the immunomodulatory effect of IFN-b may be due to increase of IL-10 and suppression of iNOS expression in astrocytes of brain tissue. 25689952 Details
mRNA Homo sapiens MS MMP9 Direct immunomodulatory influence of IFN-b on human astrocytoma cells We found a significant dose-dependent increase in IL-10 gene expression in A172 and 1321N1 cells treated with IFN-b or LPS/IFN-g/IFN-b. Moreover, a significant decrease was observed in iNOS expression suggesting a similar mechanism of action for both cells. Eventually there were no significant changes concerning the modulation of the MMP-9 and TIMP-1 in response to IFN-b treatment. In part, the immunomodulatory effect of IFN-b may be due to increase of IL-10 and suppression of iNOS expression in astrocytes of brain tissue. 25689952 Details
mRNA Homo sapiens MS TIMP1 Direct immunomodulatory influence of IFN-b on human astrocytoma cells We found a significant dose-dependent increase in IL-10 gene expression in A172 and 1321N1 cells treated with IFN-b or LPS/IFN-g/IFN-b. Moreover, a significant decrease was observed in iNOS expression suggesting a similar mechanism of action for both cells. Eventually there were no significant changes concerning the modulation of the MMP-9 and TIMP-1 in response to IFN-b treatment. In part, the immunomodulatory effect of IFN-b may be due to increase of IL-10 and suppression of iNOS expression in astrocytes of brain tissue. 25689952 Details
mRNA Homo sapiens neurodegenerative disease ERVW-1 Silver nanoparticles exhibit size-dependent differential toxicity and induce expression of syncytin-1 in FA-AML1 and MOLT-4 leukaemia cell lines AgNPs induce syncytin-1 expression in leukaemic cell lines 27576335 Details
mRNA Homo sapiens optic neuritis (ON) CYP4F2 Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration The higher IL-17A levels were found to be associated with ON, while allele A at rs1558139 was associated only with ON with MS in male patients 29736281 Details
mRNA Homo sapiens optic neuritis (ON) IL17A Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration The higher IL-17A levels were found to be associated with ON, while allele A at rs1558139 was associated only with ON with MS in male patients 29736281 Details
mRNA Homo sapiens giant cell arteritis (GCA) and systemic sclerosis (SSc) TNFSF13B A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc 30586461 Details
mRNA Homo sapiens HIVinfected、MS NT5E Elevated ATP via enhanced miRNA-30b, 30c, and 30e downregulates the expression of CD73 in CD8+ T cells of HIV-infected individuals ATP-mediated downregulation of CD73 mainly occurs via its receptor, P2X1/P2RX1. Our results may in part explain why HIV-infected individuals have reduced risk of developing MS considering the role of CD73 for efficient T cell entry into the central nervous system 35325005 Details
mRNA Homo sapiens MS PTPRC T cell distribution in cerebrospinal fluid and peripheral blood of patients with multiple sclerosis These results suggest that V61 + and V62 + y6 T cells with altered CD45 expression are reduced in CSF of patients with established MS. This finding may be related to sequestration or apoptosis of y8 T cells within active MS lesions. 7853024 Details
mRNA Homo sapiens MS IL1B Glatiramer acetate blocks the activation of THP-1 cells by interferon-g These results suggest that glatiramer acetate might alter macrophage effector function and suggest that further studies in human monocytes and macrophages are warranted 9548401 Details
mRNA Homo sapiens MS SPP1 Osteopontin gene haplotypes correlate with multiple sclerosis development and progression These data suggest that OPN genotypes may influence MS development and progression due to their influence on OPN levels 15885319 Details
mRNA Homo sapiens MS PTPRC The 77C3G Mutation in the Human CD45 (PTPRC) Gene Leads to Increased Intensity of TCR Signaling in T Cell Lines from Healthy Individuals and Patients with Multiple Sclerosis These data suggest that 77C3G may act as a risk factor for certain diseases by increasing the intensity of TCR signaling 16393978 Details
mRNA Homo sapiens MS CD200 Downregulation of Macrophage Inhibitory Molecules in Multiple Sclerosis Lesions These data suggest that diminished immune inhibition via decreased CD200 and CD47 expression contributes to a disturbed equilibrium in macrophage and microglia activation in MS lesions. Furthermore, this may result in a proinflammatory predisposition in the area surrounding chronic active lesions, thereby contributing to axonal injury, demyelination, and possible lesion expansion 17879969 Details
mRNA Homo sapiens MS CD47 Downregulation of Macrophage Inhibitory Molecules in Multiple Sclerosis Lesions These data suggest that diminished immune inhibition via decreased CD200 and CD47 expression contributes to a disturbed equilibrium in macrophage and microglia activation in MS lesions. Furthermore, this may result in a proinflammatory predisposition in the area surrounding chronic active lesions, thereby contributing to axonal injury, demyelination, and possible lesion expansion 17879969 Details
mRNA Homo sapiens MS CCR5 Natalizumab in the Treatment of Patients with Multiple Sclerosis First Experience Natalizumab treatment alters the percentage of CCR5+ and CD4+ cells in CSF. In view of the excellent temporary clinical results of the therapy, which are yet to be assessed in the course of a longer time period, our results show a possible explanation for the therapeutic success of this drug as well as for the development of progressive multifocal leukoencephalopathy 17911462 Details
mRNA Homo sapiens MS HLA-DRB1 Parent-of-origin of HLA-DRB1*1501 and age of onset of multiple sclerosis HLA-DRB1*1501 exerts a modest, but significant effect on the AO of all forms of MS. Parent-of-origin effects at the MHC are further implicated in MS disease pathogenesis 19629136 Details
mRNA Homo sapiens MS MBP Inflammatory Proprotein Convertase-Matrix Metalloproteinase Proteolytic Pathway in Antigen-presenting Cells as a Step to Autoimmune Multiple Sclerosis These data suggest that MMP-25 plays an important role in MS pathology and that MMP-25, especially because of its restricted cell/tissue expression pattern and cell surface/lipid raft localization, is a promising drug target in MS 19726693 Details
mRNA Homo sapiens MS SLC11A1 NRAMP1 (SLC11A1) Variants: Genetic Susceptibility to Multiple Sclerosis Our findings suggest that NRAMP1 polymorphisms do not play a role in MS susceptibility and clinical finding of MS in Turkish patients 20405176 Details
mRNA Homo sapiens MS MEFV Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: Is it a susceptibility gene? The results of this study supported the hypothesis that MS patients with MEFV mutation seem to have the susceptibility to develop a more progressive disease. Moreover, these data suggest that MEFV mutations may increase the risk of MS development. 20483145 Details
mRNA Homo sapiens MS CD1E Association of CD1A +622 T/C, +737 G/C and CD1E +6129 A/G Genes Polymorphisms with Multiple Sclerosis CD1E and CD1A genes may be involved in networks which determine susceptibility to RR-MS and PP-MS, respectively 20954848 Details
mRNA Homo sapiens MS CD1A Association of CD1A +622 T/C, +737 G/C and CD1E +6129 A/G Genes Polymorphisms with Multiple Sclerosis CD1E and CD1A genes may be involved in networks which determine susceptibility to RR-MS and PP-MS, respectively 20954848 Details
mRNA Homo sapiens MS FOXP3 Characterization of Autologous Mesenchymal Stem Cell-Derived Neural Progenitors as a Feasible Source of Stem Cells for Central Nervous System Applications in Multiple Sclerosis the reduced expression of mesodermal markers and reduced capacity for adipogenic or osteogenic differentiation in MSC-NPs compared with MSCs suggested that MSC-NPs have reduced potential of unwanted mesodermal differentiation upon CNS transplantation. The immunoregulatory function of MSC-NPs was similar to that of MSCs in their ability to suppress T-cell proliferation and to promote expansion of FoxP3-positive T regulatory cells in vitro. In addition, MSC-NPs promoted oligodendroglial differentiation from brain-derived neural stem cells that correlated with the secretion of bioactive factors. Our results provide a set of identity characteristics for autologous MSC-NPs and suggest that the in vitro immunoregulatory and trophic properties of these cells may have therapeutic value in the treatment of MS 23197858 Details
mRNA Homo sapiens MS RGCC RGC-32 as a potential biomarker of relapse and response to treatment with glatiramer acetate in multiple sclerosis Target gene mRNA expression was measured in patients’ isolated PBMCs by real-time qRT-PCR. Compared to stable MS patients, those with acute relapses exhibited decreased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), increased expression of IL-21 (p=0.04), but no change in CDC2 or AKT. Compared to non-responders, responders to GA treatment showed increased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), and decreased expression of IL-21 (p=0.02). Receiver operating characteristic (ROC) analysis was used to assess the predictive accuracy of each putative biomarker. The probability of accurately detecting relapse was 90% for RGC-32, 88% for FasL, and 75% for IL-21. The probability of accurately detecting response to GA was 85% for RGC-32, 90% for FasL, and 85% for IL-21. Our data suggest that RGC-32, FasL, and IL-21 could serve as potential biomarkers for the detection of MS relapse and response to GA therapy. 26407760 Details
mRNA Homo sapiens MS Fasl RGC-32 as a potential biomarker of relapse and response to treatment with glatiramer acetate in multiple sclerosis Target gene mRNA expression was measured in patients’ isolated PBMCs by real-time qRT-PCR. Compared to stable MS patients, those with acute relapses exhibited decreased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), increased expression of IL-21 (p=0.04), but no change in CDC2 or AKT. Compared to non-responders, responders to GA treatment showed increased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), and decreased expression of IL-21 (p=0.02). Receiver operating characteristic (ROC) analysis was used to assess the predictive accuracy of each putative biomarker. The probability of accurately detecting relapse was 90% for RGC-32, 88% for FasL, and 75% for IL-21. The probability of accurately detecting response to GA was 85% for RGC-32, 90% for FasL, and 85% for IL-21. Our data suggest that RGC-32, FasL, and IL-21 could serve as potential biomarkers for the detection of MS relapse and response to GA therapy. 26407760 Details
mRNA Homo sapiens MS IL21 RGC-32 as a potential biomarker of relapse and response to treatment with glatiramer acetate in multiple sclerosis Target gene mRNA expression was measured in patients’ isolated PBMCs by real-time qRT-PCR. Compared to stable MS patients, those with acute relapses exhibited decreased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), increased expression of IL-21 (p=0.04), but no change in CDC2 or AKT. Compared to non-responders, responders to GA treatment showed increased expression of RGC-32 (p<0.0001) and FasL (p<0.0001), and decreased expression of IL-21 (p=0.02). Receiver operating characteristic (ROC) analysis was used to assess the predictive accuracy of each putative biomarker. The probability of accurately detecting relapse was 90% for RGC-32, 88% for FasL, and 75% for IL-21. The probability of accurately detecting response to GA was 85% for RGC-32, 90% for FasL, and 85% for IL-21. Our data suggest that RGC-32, FasL, and IL-21 could serve as potential biomarkers for the detection of MS relapse and response to GA therapy. 26407760 Details
mRNA Homo sapiens MS BACH2 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
mRNA Homo sapiens MS PDCD5 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
mRNA Homo sapiens MS FOXP3 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
mRNA Homo sapiens MS IFIH1 The effect of IFN-β 1a on expression of MDA5 and RIG-1 in multiple sclerosis patients Thus, it seems that IFN-β 1a not only decreased pathogenic inflammatory responses but also modulated the expression of RIG-1 to protect the patients from infectious diseases and upregulation of IFN-I in a positive feedback 32311159 Details
mRNA Homo sapiens MS RIGI The effect of IFN-β 1a on expression of MDA5 and RIG-1 in multiple sclerosis patients Thus, it seems that IFN-β 1a not only decreased pathogenic inflammatory responses but also modulated the expression of RIG-1 to protect the patients from infectious diseases and upregulation of IFN-I in a positive feedback 32311159 Details
mRNA Homo sapiens MS ETS1 MiR-1-3p facilitates Th17 differentiation associating with multiple sclerosis via targeting ETS1 The study demonstrated the positive role of miR-1-3p in Th17 differentiation associated with MS via targeting ETS1. 32633381 Details
mRNA Homo sapiens MS HAR1A The expression profle of HAR1A and HAR1B in the peripheral blood cells of multiple sclerosis patients The low serum level of HAR1A may be a potential molecular biomarker for MS diagnosis; however, no discernible diference was detected in the expression level of HAR1B in the blood samples of MS patients 36583781 Details
mRNA Homo sapiens MS HAR1B The expression profle of HAR1A and HAR1B in the peripheral blood cells of multiple sclerosis patients The low serum level of HAR1A may be a potential molecular biomarker for MS diagnosis; however, no discernible diference was detected in the expression level of HAR1B in the blood samples of MS patients 36583781 Details
mRNA Homo sapiens MS、EAE IL1B NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients Altogether, these results point to a role of IL1B and the NLRP3 inflammasome as prognostic biomarker and potential therapeutic target, respectively, in patients with primary progressive multiple sclerosis. 32282893 Details
mRNA Homo sapiens MS HHEX Unraveling the Influence of HHEX Risk Polymorphism rs7923837 on Multiple Sclerosis Pathogenesis The present study evidenced statistically significant lower HHEX mRNA levels in lymphocytes of MS patients compared to those of controls, showing a similar trend in MS patients to the already described eQTL effect in blood from healthy individuals. Even though no differences were found in protein expression according to HHEX genotypes, statistically significant divergent subcellular distributions of HHEX appeared in patients and controls. The epistatic interaction detected between BCL6 and HHEX MS-risk variants in healthy individuals was absent in patients, indicative of a perturbed reciprocal regulation in the latter. Lymphocytes from MS carriers of the homozygous mutant genotype exhibited a distinctive, more energetic profile, both in resting and activated conditions, and significantly increased glycolytic rates in resting conditions when compared to controls sharing the HHEX genotype. In contrast, significantly higher mitochondrial mass was evidenced in homozygous mutant controls. 35887298 Details
mRNA Homo sapiens EAE HDAC1 A T cell-specific deletion of HDAC1 protects against experimental autoimmune encephalomyelitis EAE susceptibility was restored in WT:HDAC1-cKO mixed BM chimeric mice, indicating a cell-autonomous defect. Our data demonstrate a novel pathophysiological role for HDAC1 in EAE and provide evidence that selective inhibition of HDAC1 might be a promising strategy for the treatment of MS 28964722 Details
mRNA Homo sapiens EAE LRPPRC Polymerase I pathway inhibitor ameliorates experimental autoimmune encephalomyelitis Our findings demonstrate that POL1 pathway inhibition delayed and suppressed the development of EAE and ameliorated the disease in mice with persistent clinical signs. 23998422 Details
mRNA Homo sapiens EAE POLR1D Polymerase I pathway inhibitor ameliorates experimental autoimmune encephalomyelitis Our findings demonstrate that POL1 pathway inhibition delayed and suppressed the development of EAE and ameliorated the disease in mice with persistent clinical signs. 23998422 Details
mRNA Homo sapiens EAE RHOA RhoA Drives T-Cell Activation and Encephalitogenic Potential in an Animal Model of Multiple Sclerosis RhoA is a central regulator of several archetypical T -cell responses, and furthermore points toward RhoA as a new potential therapeutic target in diseases such as MS, where T -cell activity plays a central role. 29904389 Details
mRNA Homo sapiens EAE MYD88 T oll-like Receptors in Multiple Sclerosis Mouse Experimental Models The role of individual TLR, in particular TLR3, TLR4, and TLR9, signaling in modulation of EAE inflammation varies with the experimental model employed and the immune cells that drive pathology. The TLR-dependent production of proinflammatory cytokines is regulated by mechanisms that dampen the pathway and prevent excess damage. Development of TLR antagonists to treat autoimmune diseases must acknowledge the possibility of interference with regulatory mechanisms 19758186 Details
mRNA Homo sapiens MS TAC1 Haplotype analysis of the preprotachykinin-1 (TAC1) gene in multiple sclerosis Two-marker haplotypes composed of allelic combinations of TAC1 promoter–intron 1 SNPs were highly significantly associated with MS and more so with the relapsing-remitting form of this disease. While independent reproduction of these data in other data sets is indicated, our work is suggestive for a role of the TAC1 gene in MS 15729363 Details
mRNA Homo sapiens EAE EBI3 interleukin-27 gene Therapy Prevents the Development of autoimmune encephalomyelitis but Fails to attenuate established inflammation due to the expansion of cD11b+gr-1+ Myeloid cells We found that mice with established EAE had significant expansion of CD11b+Gr-1+ cells, and AAV-IL-27 treatment further expanded these cells and induced their expression of Th17-promoting cytokines such as IL-6. Adoptive transfer of AAV-IL-27-expanded CD11b+Gr-1+ cells enhanced EAE development. Thus, expansion of CD11b+Gr-1+ cells provides an explanation for the resistance to IL-27 therapy in mice with established disease 29740452 Details
mRNA Homo sapiens MS PRKCA PRKCA and Multiple Sclerosis: Association in Two Independent Populations The transcript levels of PRKCA showed correlation with the copy number of the Finnish and Canadian ‘‘risk’’ haplotypes in CD4-negative mononuclear cells of five Finnish multiplex families and in lymphoblast cell lines of 11 Centre d’Etude du Polymorphisme Humain (CEPH) individuals of European origin 16596167 Details
mRNA Homo sapiens MS OLIG1 Effect of catalpol on remyelination through experimental autoimmune encephalomyelitis acting to promote Olig1 and Olig2 expressions in mice These data demonstrated that Catalpol had a strong neuroprotective effect on EAE mice. Catalpol also plays a role in remyelination by promoting the expressions of Olig1 and Olig2 transcription factors. 28464811 Details
mRNA Homo sapiens MS OLIG2 Effect of catalpol on remyelination through experimental autoimmune encephalomyelitis acting to promote Olig1 and Olig2 expressions in mice These data demonstrated that Catalpol had a strong neuroprotective effect on EAE mice. Catalpol also plays a role in remyelination by promoting the expressions of Olig1 and Olig2 transcription factors. 28464811 Details
mRNA Homo sapiens MS IGF1 Novel functional polymorphism in IGF-1 gene associated with multiple sclerosis: A new insight to MS According to IGF-1 roles in CNS and our results, this study suggests that low IGF-1 level may be associated with susceptibility to MS 28427698 Details
mRNA Homo sapiens MS CD226 Multiple sclerosis associated genetic variants of CD226 impair regulatory T cell function Therefore, by combining human and mouse analyses we show that CD226 exhibits an important role in the activation of regulatory T cells, with its genetically imposed dysregulation impairing regulatory T cell function. 26359290 Details
mRNA Homo sapiens EAE TUG1 Down-regulation of taurine-up-regulated gene 1 attenuates inflammation by sponging miR-9-5p via targeting NF-κB1/p50 in multiple sclerosis own-regulation of TUG1 attenuates MS through inhibition of inflammation by sponging miR-9-5p via targeting NF-κB1/p50, suggesting that TUG1 is a potential therapeutic target for MS treatmen 31394128 Details
mRNA Homo sapiens EAE FOXP3 Epigenetic and gene expression alterations of FOXP3 in the T cells of EAE mouse model of multiple sclerosi This study suggests that the epigenetic modification of FOXP3 gene is involved in the pathogenesis of EAE and this could be important in therapy in an appropriate and logical statement. 28320131 Details
mRNA Homo sapiens MS ARG1 Mir-223 regulates the number and function of myeloid-derived suppressor cells in multiple sclerosis and experimental autoimmune encephalomyelitis They also displayed an increased expression of critical mediators of MDSC suppressive function, Arginase-1(Arg1), and the signal transducer and activator of transcription 3 (Stat3), which herein, we demonstrate being an miR-223 target gene. Consistently, MDSCs from MS patients displayed decreased STA T3 and ARG1 expression compared with healthy controls,suggesting that circulating MDSCs in MS are not only reduced in numbers but also less suppressive. These results support a critical role for miR-223 in modulating MDSC biology in EAE and in MS and suggest potential novel therapeutic applications 27704281 Details
mRNA Homo sapiens MS IL18 Interleukin 18 gene polymorphism is a risk factor for multiple sclerosis However, the genotype distribution of the IL18 -607 C/A polymorphism in the MS patient group was not significantly different from that of the control group. These data suggest that IL18 gene polymorphisms at position -137 might be a genetic risk factor for MS in the Turkish population. 24402877 Details
mRNA Homo sapiens MS MBP PCR typing oftwo Short Tandem Repeat (STR) structures upstreams ofthe human Myelin Basic Protein (MBP) gene; the genetic susceptibility in multiple sclerosis and monosymptomatic idiopathic optic neuritis in Danes We found no significant differences between the MBP fragment frequencies in either of the potient groups and in the control group 9345452 Details
mRNA Homo sapiens EAE RAG1 Dendritic cells permit immune invasion of the CNS in an animal model of multiple sclerosis In mice, CD11c+ DCs alone are sufficient to present antigen in vivo to primed myelin-reactive T cells in order to mediate CNS inflammation and clinical disease development. 15735653 Details
mRNA Homo sapiens MS PRKCA No evidence for association of the protein kinase C alpha gene with multiple sclerosis As many groups investigating complex diseases are now embarking upon large case-control studies with the intent of employing haplotype analysis to increase power, the potential to observe false positive association as a result of the difficulty in reliably estimating the frequency of rare alleles is of concern and needs to be remembered 15742114 Details
mRNA Homo sapiens EAE IFN-B Gene-Based Delivery of IFN-B Is Efficacious in a Murine Model of Experimental Allergic Encephalomyelitis A single injection of the MuIFN-B plasmid was as effective in reducing the severity of the disease as an every other day injection of MuIFN-B protein 16800783 Details
mRNA Homo sapiens EAE IL10 TGF-β signaling via smad4 drives IL-10 production in effector Th1 cells and reduces T cell trafficking in EAE this study demonstrates that IL-10 reduced encephalitogenic markers such as IFN-γ and Tbet on Th1 effector cells expressing the IL-10R, but also prevented recruitment of both transferred and host-derived inflammatory T cells. These data establish a regulatory mechanism by which highly activated Th1 effector cells modulate their pathogenicity through induction of IL-10 21728174 Details
mRNA Homo sapiens MS HLA-DPB1 FREQUENCY OF HLA-DPB1 ALLELES IN MULTIPLE SCLEROSIS PATIENTS FROM NORTHERN IRELAND Although present in the controls, linkage disequilibrium between HLA-DPBl*OlOl and HLA-DR17 was not found in multiple sclerosis patients. 1420118 Details
mRNA Homo sapiens MS HLA-B Complement Allotyping Explains MHC Associations in Multiple Sclerosis 109 patients have the supratype HLA B7, C4A3, C4B1, BB, DR2 (7,3,1,S,2) 3207262 Details
mRNA Homo sapiens MS C4A Complement Allotyping Explains MHC Associations in Multiple Sclerosis 109 patients have the supratype HLA B7, C4A3, C4B1, BB, DR2 (7,3,1,S,2) 3207262 Details
mRNA Homo sapiens MS C4B Complement Allotyping Explains MHC Associations in Multiple Sclerosis 109 patients have the supratype HLA B7, C4A3, C4B1, BB, DR2 (7,3,1,S,2) 3207262 Details
mRNA Homo sapiens MS BB Complement Allotyping Explains MHC Associations in Multiple Sclerosis 109 patients have the supratype HLA B7, C4A3, C4B1, BB, DR2 (7,3,1,S,2) 3207262 Details
mRNA Homo sapiens EAE Insr ANTI I-A ANTIBODY SUPPRESSES ACTIVE ENCEPHALOMYELITIS : Treatment Model for Diseases Linked to IR Genes The mechanisms of action of antibody to IR gene products in autoimmune disease are discussed . 6194246 Details
mRNA Homo sapiens MS IL1RN An interleukin 1 -receptor-antagonist gene polymorphism is not associated with multiple sclerosis These findings speak against a gener- alized importance of the IL-lra gene in MS 8765338 Details
mRNA Homo sapiens MS HLA-DRB4 Cytokine production in patients carrying multiple sclerosis-linked HLA-DR alleles We found normal levels of TNFα production by in vitro activated HLA-DR3+ and HLA-DR2+ lymphoid cells; in contrast, HLA-DR4+ MS patients produced significantly higher amounts of TNFα than healthy controls, and DR3+ and DR2+ patients. IFNγ, IL-10, and IL-4 levels did not differ significantly between the three groups of patients. 10653315 Details
mRNA Homo sapiens MS HLA-DRB3 Cytokine production in patients carrying multiple sclerosis-linked HLA-DR alleles We found normal levels of TNFα production by in vitro activated HLA-DR3+ and HLA-DR2+ lymphoid cells; in contrast, HLA-DR4+ MS patients produced significantly higher amounts of TNFα than healthy controls, and DR3+ and DR2+ patients. IFNγ, IL-10, and IL-4 levels did not differ significantly between the three groups of patients. 10653315 Details
mRNA Homo sapiens MS HLA-DRB2 Cytokine production in patients carrying multiple sclerosis-linked HLA-DR alleles We found normal levels of TNFα production by in vitro activated HLA-DR3+ and HLA-DR2+ lymphoid cells; in contrast, HLA-DR4+ MS patients produced significantly higher amounts of TNFα than healthy controls, and DR3+ and DR2+ patients. IFNγ, IL-10, and IL-4 levels did not differ significantly between the three groups of patients. 10653315 Details
Variants Homo sapiens MS NCF1 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF1 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF2 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF2 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF2 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF2 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF2 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF4 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS NCF4 Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS CYBA Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS CYBA Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS CYBB Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS CYBB Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). 30567305 Details
Variants Homo sapiens MS GRIN1 Study of B Cell Repertoire in Patients With Anti-N-Methyl-D-Aspartate Receptor Encephalitis The Most Common Clone of Anti-NMDAR Encephalitis Was Not Found in Healthy People Nor Patients With Anti-LGI1 Encephalitis, MS, or NMOSD 32849520 Details
Variants Homo sapiens MS GRIN1 Study of B Cell Repertoire in Patients With Anti-N-Methyl-D-Aspartate Receptor Encephalitis The Most Common Clone of Anti-NMDAR Encephalitis Was Not Found in Healthy People Nor Patients With Anti-LGI1 Encephalitis, MS, or NMOSD 32849520 Details
Variants Homo sapiens MS IL25 Molecular analysis of interleukin-25 exons 1 and 2 and its serum levels in Iranian patients with multiple sclerosis However, no significant differences were found in polymorphisms for IL-25 exon. 25143869 Details
Variants Homo sapiens MS IL25 Molecular analysis of interleukin-25 exons 1 and 2 and its serum levels in Iranian patients with multiple sclerosis However, no significant differences were found in polymorphisms for IL-25 exon. 25143869 Details
Variants Homo sapiens MS QKI QKI-V5 is downregulated in CNS inflammatory demyelinating diseases Decreased expression of QKI -V5 in peripheral blood of patients with multiple sclerosis (MS) 31835207 Details
Variants Homo sapiens MS CD58 Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p=0.410), rs2300747 (p=0.881) and rs1335532 (p=0.407) were indistinct. 32257069 Details
Variants Homo sapiens MS CD58 Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p=0.410), rs2300747 (p=0.881) and rs1335532 (p=0.407) were indistinct. 32257069 Details
Variants Homo sapiens MS CD58 Association of CD58 polymorphism and multiple sclerosis in Malaysia: a pilot study Association (allelic model) between multiple sclerosis and CD58 gene polymorphism alleles rs12044852 (p=0.410), rs2300747 (p=0.881) and rs1335532 (p=0.407) were indistinct. 32257069 Details
Variants Homo sapiens MS CTLA4 Correlation between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility. A meta-analysis With current evidence, CTLA-4 gene rs221775A>G single nucleotide polymorphism had no association with the susceptibility of multiple sclerosis 28352806 Details
Variants Homo sapiens MS IL2 Correlation of -475 IL-2 Promoter Gene Polymorphisms and the Levels of Serum IL-2 on the Risk of Multiple Sclerosis Our results showed that in this population of Iraqi patients, the AT genotype / A allele of -475 IL-2 promoter gene SNP may include attributed factors for MS predisposition. 35765522 Details
Variants Homo sapiens MS IL2 Correlation of -475 IL-2 Promoter Gene Polymorphisms and the Levels of Serum IL-2 on the Risk of Multiple Sclerosis Our results showed that in this population of Iraqi patients, the AT genotype / A allele of -475 IL-2 promoter gene SNP may include attributed factors for MS predisposition. 35765522 Details
Variants Homo sapiens MS IL2 Correlation of -475 IL-2 Promoter Gene Polymorphisms and the Levels of Serum IL-2 on the Risk of Multiple Sclerosis Our results showed that in this population of Iraqi patients, the AT genotype / A allele of -475 IL-2 promoter gene SNP may include attributed factors for MS predisposition. 35765522 Details
Variants Homo sapiens MS IL2 Correlation of -475 IL-2 Promoter Gene Polymorphisms and the Levels of Serum IL-2 on the Risk of Multiple Sclerosis Our results showed that in this population of Iraqi patients, the AT genotype / A allele of -475 IL-2 promoter gene SNP may include attributed factors for MS predisposition. 35765522 Details
Variants Homo sapiens MS IL2 Correlation of -475 IL-2 Promoter Gene Polymorphisms and the Levels of Serum IL-2 on the Risk of Multiple Sclerosis Our results showed that in this population of Iraqi patients, the AT genotype / A allele of -475 IL-2 promoter gene SNP may include attributed factors for MS predisposition. 35765522 Details
Variants Homo sapiens MS MBP Genetic susceptibility to multiple sclerosis in the Shanghai Chinese is not linked to the myelin basic protein gene microsatellite Genetic susceptibility to multiple sclerosis in the Shanghai Chinese is not linked to the myelin basic protein gene microsatellite 16695982 Details
Variants Homo sapiens MS MBP Genetic susceptibility to multiple sclerosis in the Shanghai Chinese is not linked to the myelin basic protein gene microsatellite Genetic susceptibility to multiple sclerosis in the Shanghai Chinese is not linked to the myelin basic protein gene microsatellite 16695982 Details
Variants Homo sapiens MS APOE Polymorphism of Apo lipoprotein E gene and the risk of multiple sclerosis We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. 22973358 Details
Variants Homo sapiens MS APOE Polymorphism of Apo lipoprotein E gene and the risk of multiple sclerosis We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. 22973358 Details
Variants Homo sapiens MS APOE Polymorphism of Apo lipoprotein E gene and the risk of multiple sclerosis We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. 22973358 Details
Variants Homo sapiens MS APOE Polymorphism of Apo lipoprotein E gene and the risk of multiple sclerosis We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. 22973358 Details
Variants Homo sapiens MS APOE Polymorphism of Apo lipoprotein E gene and the risk of multiple sclerosis We found no significant differences in genotype frequency between patients with multiple sclerosis and the control group. 22973358 Details
Variants Homo sapiens N/A IL6 Gene-environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures No interactions were found with IL-6 and BCL-2 SNP GG genotypes. 36725329 Details
Variants Homo sapiens N/A BCL2 Gene-environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures No interactions were found with IL-6 and BCL-2 SNP GG genotypes. 36725329 Details
Variants Homo sapiens N/A NFKB1 Gene-environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures There was significant additive interaction between exposure to weed control products and NFKB1 SNP GG (attributable proportions (AP) 0.48, 95% CI 0.10 to 0.87), and exposure to plant or disease control products and absence of HLA-A*02 (AP 0.56; 95% CI 0.03 to 1.08). 36725329 Details
Variants Homo sapiens MS MTHFR A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis However, the distribution of alleles and genotypes Was found to be close to identical in MS patients and healthy controls, regardless of subgroup analysis after clinical form Or HLA class 11 Phenotype. 24283912 Details
Variants Homo sapiens MS MTHFR A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis However, the distribution of alleles and genotypes Was found to be close to identical in MS patients and healthy controls, regardless of subgroup analysis after clinical form Or HLA class 11 Phenotype. 24283912 Details
Variants Homo sapiens MS MTHFR A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis However, the distribution of alleles and genotypes Was found to be close to identical in MS patients and healthy controls, regardless of subgroup analysis after clinical form Or HLA class 11 Phenotype. 24283912 Details
Variants Homo sapiens MS MTHFR A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis However, the distribution of alleles and genotypes Was found to be close to identical in MS patients and healthy controls, regardless of subgroup analysis after clinical form Or HLA class 11 Phenotype. 24283912 Details
Variants Homo sapiens MS MTHFR A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis However, the distribution of alleles and genotypes Was found to be close to identical in MS patients and healthy controls, regardless of subgroup analysis after clinical form Or HLA class 11 Phenotype. 24283912 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS IL2RA Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HMGB Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis Our results identified significant associations as well as significant allele frequency differences in some of the studied single-nucleotide polymorphisms inclding rs4935356, rs3177928, and rs7197 from HLA-DRA gene, and rs12722489 and rs12722490 variants from IL2RA gene (p< 0.05). 33178870 Details
Variants Homo sapiens MS HLA-DRB1 Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India Further molecular subtyping of HLA-DRB1*15 among the pa tients revealed two novel alleles, DRB1*1506 (20%) and DRB1*1508 (30%), along with the commonly reported DRB1*1501 (50%) for the first time in MS patients that were hitherto unidentified from other parts of India and world as well. 12651075 Details
Variants Homo sapiens MS HLA-DRB1 Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India Further molecular subtyping of HLA-DRB1*15 among the pa tients revealed two novel alleles, DRB1*1506 (20%) and DRB1*1508 (30%), along with the commonly reported DRB1*1501 (50%) for the first time in MS patients that were hitherto unidentified from other parts of India and world as well. 12651075 Details
Variants Homo sapiens MS HLA-DRB1 Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India Further molecular subtyping of HLA-DRB1*15 among the pa tients revealed two novel alleles, DRB1*1506 (20%) and DRB1*1508 (30%), along with the commonly reported DRB1*1501 (50%) for the first time in MS patients that were hitherto unidentified from other parts of India and world as well. 12651075 Details
Variants Homo sapiens MS HLA-A Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India The study revealed a significant increase of HLA-A11, B16, Cw7, and DRB1*15. 12651075 Details
Variants Homo sapiens MS HLA-C Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India The study revealed a significant increase of HLA-A11, B16, Cw7, and DRB1*15. 12651075 Details
Variants Homo sapiens MS HLA-B Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai, India The study revealed a significant increase of HLA-A11, B16, Cw7, and DRB1*15. 12651075 Details
Variants Homo sapiens MS ATXN2 Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis However, transmission disequilibrium testing for these repeats demonstrated significant excess transmission of the 22 repeat length allele of the SCA2 gene (Pp4.4E 06) in multiple sclerosis patients. 10369884 Details
Variants Homo sapiens MS APOE Apolipoprotein Alleles and the Response to Interferon-β-1b in Multiple Sclerosis The e2 allele was associated with increased time to moderate disability. 21325856 Details
Variants Homo sapiens MS LIF No association of leukemia inhibitory factor (LIF) DNA polymorphisms with multiple sclerosis In summary, no association was found between the studied LIF DNA polymorphisms and the prevalence of MS indicating that these polymorphisms are not involved in determining disease susceptibility. 16263181 Details
Variants Homo sapiens MS LIF No association of leukemia inhibitory factor (LIF) DNA polymorphisms with multiple sclerosis In summary, no association was found between the studied LIF DNA polymorphisms and the prevalence of MS indicating that these polymorphisms are not involved in determining disease susceptibility. 16263181 Details
Variants Homo sapiens MS TNFRSF1A Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews No significant differences were observed for both polymorphisms between the patients and the controls. 11598334 Details
Variants Homo sapiens MS TLR7 Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews No significant differences were observed for both poly morphisms between the patients and the controls. 11598334 Details
Variants Homo sapiens MS CCL5 RANTES: a genetic risk marker for multiple sclerosis MS cases differed from controls showing a significant association with the 403G/A polymorphism. 15471370 Details
Variants Homo sapiens MS CCL5 RANTES: a genetic risk marker for multiple sclerosis There was a significant association of the -28G allele with both early onset and longer survival. 15471370 Details
Variants Homo sapiens MS CCL5 RANTES: a genetic risk marker for multiple sclerosis MS cases differed from controls showing a significant association with the 403G/A polymorphism,but not the -28C/G. 15471370 Details
Variants Homo sapiens MS TRB HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor Although the HLA DR2 genotype was significantly associated with MS, no interactive effects were seen with MS, DR2, TCRAC1, TCRBC2 and TCRBV alleles. 7911477 Details
Variants Homo sapiens MS TRB HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor Although the HLA DR2 genotype was significantly associated with MS, no interactive effects were seen with MS, DR2, TCRAC1, TCRBC2 and TCRBV alleles. 7911477 Details
Variants Homo sapiens MS TRB HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor Although the HLA DR2 genotype was significantly associated with MS, no interactive effects were seen with MS, DR2, TCRAC1, TCRBC2 and TCRBV alleles. 7911477 Details
Variants Homo sapiens MS TRA HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor Although the HLA DR2 genotype was significantly associated with MS, no interactive effects were seen with MS, DR2, TCRAC1, TCRBC2 and TCRBV alleles. 7911477 Details
Variants Homo sapiens MS TNF Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients No significant differences were observed when the 3 MS subtypes were compared to each other. 17268200 Details
Variants Homo sapiens MS PTPRC An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population This study reveals no evidence to suggest that these markers are associated with MS in the tested Australian Caucasian population. 19111528 Details
Variants Homo sapiens MS PTPRC An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population This study reveals no evidence to suggest that these markers are associated with MS in the tested Australian Caucasian population. 19111528 Details
Variants Homo sapiens MS HLA-C Analysis of allelic association between D6S461 marker and multiple sclerosis in Ashkenazi and Iraqi Jewish patients Most(90%) of the juvenile MS patients belonged to the relapsing-remitting subgroup, which itself showed a frequency of 28.5% of the 260-bp allele (n = 121, p = 0.045). 10344796 Details
Variants Homo sapiens MS MT-ND1 Genetic variants of Complex I in multiple sclerosis SNP haplotypes within Complex I genes are associated with MS. 15607211 Details
Variants Homo sapiens MS MT-ND1 Genetic variants of Complex I in multiple sclerosis SNP haplotypes within Complex I genes are associated with MS. 15607211 Details
Variants Homo sapiens MS MT-ND1 Genetic variants of Complex I in multiple sclerosis SNP haplotypes within Complex I genes are associated with MS. 15607211 Details
Variants Homo sapiens MS TRA T cell receptor alpha chain polymorphisms in multiple sclerosis Among 30 informa tive families, there was no significant increase in haplotypes shared by affected siblings over that expected based on random segregation. 1387654 Details
Variants Homo sapiens MS TRA T cell receptor alpha chain polymorphisms in multiple sclerosis Among 30 informa tive families, there was no significant increase in haplotypes shared by affected siblings over that expected based on random segregation. 1387654 Details
Variants Homo sapiens MS EVI5 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS IGSF3 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS LINC02868 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS RUNX3 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS TRPC3 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS SIM1 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS OPCML Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS LAIR2 Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci We identified nine best non-MHC independent SNPs (r2<0.70 within a windows size of 100Kb), which were not previously identified by IMSGC and hence represent novel suggestive MS variants. 28933650 Details
Variants Homo sapiens MS BIRC5 Genetic polymorphisms and epigenetic regulation of survivin encoding gene, BIRC5, in multiple sclerosis patients It was observed that the C allele (OR = 1.38, 95% CI = 1.05–1.348, P = 0.022) and CC genotype (OR = 1.84,95% CI = 1.06–3.19; P = 0.029) in the rs9904341 polymorphism increased the disease risk. 31438837 Details
Variants Homo sapiens MS HLA-DRB1 Risk HLA-DRB1 alleles differentially influence brain and lesion volumes in Japanese patients with multiple sclerosis Our study suggests that distinct HLA-DRB1 alleles could differentially influence brain and lesion volumes over the disease course of MS. 32247967 Details
Variants Homo sapiens MS HLA-DRB1 Risk HLA-DRB1 alleles differentially influence brain and lesion volumes in Japanese patients with multiple sclerosis Our study suggests that distinct HLA-DRB1 alleles could differentially influence brain and lesion volumes over the disease course of MS. 32247967 Details
Variants Homo sapiens MS IFNA17 No support for a truncated interferon-alpha 17 allele as risk factor for MS Thus, our study does not support an association between the IFNA17 allele and risk for MS. 17956450 Details
Variants Homo sapiens MS TRA T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple We conclude there is no convincing evidence for an association of MS with TCR α, β, γ, and δ chain gene polymorphisms. 8857743 Details
Variants Homo sapiens MS TRB T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple We conclude there is no convincing evidence for an association of MS with TCR α, β, γ, and δ chain gene polymorphisms. 8857743 Details
Variants Homo sapiens MS TRG T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple We conclude there is no convincing evidence for an association of MS with TCR α, β, γ, and δ chain gene polymorphisms. 8857743 Details
Variants Homo sapiens MS TRD T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple We conclude there is no convincing evidence for an association of MS with TCR α, β, γ, and δ chain gene polymorphisms. 8857743 Details
Variants Homo sapiens MS OMG Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis This makes it unlikely that either of these genes is involved in genetic suscepti bility to MS, but regions of these genes outside of the exonic sequences have not been examined. 7477728 Details
Variants Homo sapiens MS EVI2A Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis This makes it unlikely that either of these genes is involved in genetic suscepti bility to MS, but regions of these genes outside of the exonic sequences have not been examined. 7477728 Details
Variants Homo sapiens MS EVI2A Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis This makes it unlikely that either of these genes is involved in genetic suscepti bility to MS, but regions of these genes outside of the exonic sequences have not been examined. 7477728 Details
Variants Homo sapiens MS EVI2A Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis This makes it unlikely that either of these genes is involved in genetic suscepti bility to MS, but regions of these genes outside of the exonic sequences have not been examined. 7477728 Details
Variants Homo sapiens MS PSMB9 Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis We studied large multifunctional protease (LMP) 2 and 7 and transporter associated with antigen processing (TAP) 1 and 2 gene polymorphisms in 60 HLA-DRZ MS patients and 60 HLA-DR2 healthy subjects and found no specific or preferential RFLP patterns or coding sequence variants in the patient group. 7909590 Details
Variants Homo sapiens MS PSMB8 Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis We studied large multifunctional protease (LMP) 2 and 7 and transporter associated with antigen processing (TAP) 1 and 2 gene polymorphisms in 60 HLA-DRZ MS patients and 60 HLA-DR2 healthy subjects and found no specific or preferential RFLP patterns or coding sequence variants in the patient group. 7909590 Details
Variants Homo sapiens MS ABCB9 Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis We studied large multifunctional protease (LMP) 2 and 7 and transporter associated with antigen processing (TAP) 1 and 2 gene polymorphisms in 60 HLA-DRZ MS patients and 60 HLA-DR2 healthy subjects and found no specific or preferential RFLP patterns or coding sequence variants in the patient group. 7909590 Details
Variants Homo sapiens MS TAP2 Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis We studied large multifunctional protease (LMP) 2 and 7 and transporter associated with antigen processing (TAP) 1 and 2 gene polymorphisms in 60 HLA-DRZ MS patients and 60 HLA-DR2 healthy subjects and found no specific or preferential RFLP patterns or coding sequence variants in the patient group. 7909590 Details
Variants Homo sapiens MS TRB Preferential T-cell receptor beta-chain variable gene use in myelin basic protein-reactive T-cell clones from patients with multiple sclerosis The concurrent demonstration by others that T cells within demyelinating areas of multiple sclerosis brains preferentially express VP5.2 and V.86.1 suggests that the BP-specific clones derived from blood may be relevant to disease pathogenesis. 1717998 Details
Variants Homo sapiens MS TRB Preferential T-cell receptor beta-chain variable gene use in myelin basic protein-reactive T-cell clones from patients with multiple sclerosis The concurrent demonstration by others that T cells within demyelinating areas of multiple sclerosis brains preferentially express VP5.2 and V.86.1 suggests that the BP-specific clones derived from blood may be relevant to disease pathogenesis. 1717998 Details
Variants Homo sapiens MS TRB Analysis of T cell receptor-gene rearrangement in T cells from the cerebrospinal fluid of patients with multiple sclerosis Southern blot analysis of the D N A of these T cell clones indicated that all had rearrangements of the TcR β chain genes, but none of the rearrangements were identical. 3298316 Details
Variants Homo sapiens MS TRB Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T cell receptor beta-chain DNA polymorphism The reported MS association with the TCR-β gene complex therefore does not appear to be due to genes within the diversity, joining, or constant region but more likely involves a specific gene(s) within the variable region. 1674514 Details
Variants Homo sapiens MS BTN1A1 B-lymphocyte alloantigens associated with multiple sclerosis 1 of the B-cell antigens, BT 101, was found in 49 out of 59 patients (83%), compared with 10 out of 30 normal individuals (33%), giving a relative risk of 9·8 times to the association. 63743 Details
Variants Homo sapiens MS HLA-B B-lymphocyte alloantigens associated with multiple sclerosis 2 other B-cell alloantigens and HLA-B7 showed lesser but significant positive associations with M.S. 63743 Details
Variants Homo sapiens MS IGH Segregation of immunoglobulin heavy chain constant region genes in multiple sclerosis sibling pairs The H24 probe, containing the S region for the heavy chain M, exhibits close linkage with Gm markers for G1 and G3, presumably because regions homolo- gous to the S region of M are closely associated with most lghC genes. 8423203 Details
Variants Homo sapiens MS MEFV Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. 12700594 Details
Variants Homo sapiens MS MEFV Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. 12700594 Details
Variants Homo sapiens MS MEFV Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. 12700594 Details
Variants Homo sapiens MS MEFV Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. 12700594 Details
Variants Homo sapiens MS HLA-A In silico study of the association of the HLA-Aβ31:01 allele (human leucocyte antigen allele 31:01) with neuroantigenic epitopes of PLP (proteolipid protein), MBP (myelin basic protein) and MOG proteins (myelin oligodendrocyte glycoprotein) for studying the multiple sclerosis disease pathogenesis Further investigations of this peptide revealed that the binding of C-terminal residue of this peptide has a more significant effect on binding to this allele than the N-terminal part of the peptide. 32242486 Details
Variants Homo sapiens MS CD6 Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain We demonstrate significant association of rs17824933 in CD6 (PCMH= 0.004; OR= 1.14; 95% CI 1.04–1.24) and of rs1860545 in TNFRSF1A (PCMH= 0.001; OR= 1.15; 95% CI 1.06–1.25) with MS. 20430450 Details
Variants Homo sapiens MS IRF8 Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain IRF8 could not be established beyond doubt as risk locus for MS due to the exclusion of the Bilbao and Madrid datasets. 20430450 Details
Variants Homo sapiens MS TNFRSF1A Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain while the low-frequency coding non-synonymous SNP rs4149584 in TNFRSF1A displayed a trend for association (PCMH= 0.062; OR= 1.27; 95% CI 0.99–1.63). 20430450 Details
Variants Homo sapiens MS TNFRSF1A Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain We demonstrate significant association of rs17824933 in CD6 (PCMH= 0.004; OR= 1.14; 95% CI 1.04–1.24) and of rs1860545 in TNFRSF1A (PCMH= 0.001; OR= 1.15; 95% CI 1.06–1.25) with MS. 20430450 Details
Variants Homo sapiens MS TLR4 Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis In vitro LPS stimulation studies showed a significantly lower proliferation of PBMCs from donors heterozygous for the Asp299Gly mutation in comparison to PBMCs from individuals with the wild-type genotype ( p = 0.01). 15932772 Details
Variants Homo sapiens MS TLR4 Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis However, these functional changes seem not to have any impact on the clinical presentation of MS patients with different TLR-4 genotypes. 15932772 Details
Variants Homo sapiens MS TLR4 Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis However, these functional changes seem not to have any impact on the clinical presentation of MS patients with different TLR-4 genotypes. 15932772 Details
Variants Homo sapiens MS TLR4 Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis However, these functional changes seem not to have any impact on the clinical presentation of MS patients with different TLR-4 genotypes. 15932772 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort HLA-DRB1*15 allele is associated with OCB-positive patients with MS when studying a Spanish MS population 21418440 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*15 allele and CSF oligoclonal bands in a Spanish multiple sclerosis cohort The other alleles did not show differences. 21418440 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis These findings suggest that Vβ5.2 spectratype expansion is associated with the development of MS. 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS TRB Complementarity-determining region 3 spectratyping analysis of the TCR repertoire in multiple sclerosis The frequency of Vβ expansion in healthy subjects and patients with MS during active and remission phasesa 12707368 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis These results suggest that the MS susceptibility gene, HLA-DR(2)15 type, does not induce MSIT, and conceivably these are two separate risk factors in the development of MS. 17463066 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-A HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-B HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 We found significant associations with HLA-Cw3 (p -- 0.002, Pc = 0.012, RR = 3.2), DR2 (p = 0.007, RR = 2.6), and DQBI*0602 (p = 0.04, RR = 4.0) in Japanese patients for the first time. 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of Cw9 and Cwl0 were 38.6% and 27.3%, respectively, which were not significantly different from the controls. 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of Cw9 and Cwl0 were 38.6% and 27.3%, respectively, which were not significantly different from the controls. 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-C HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 We found significant associations with HLA-Cw3 (p -- 0.002, Pc = 0.012, RR = 3.2), DR2 (p = 0.007, RR = 2.6), and DQBI*0602 (p = 0.04, RR = 4.0) in Japanese patients for the first time. 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-A, B, C in 44 MS patients and 98 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-DR in 44 MS patients and 140 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-DR in 44 MS patients and 140 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 Frequencies of HLA-DR in 44 MS patients and 140 controls 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 We found significant associations with HLA-Cw3 (p -- 0.002, Pc = 0.012, RR = 3.2), DR2 (p = 0.007, RR = 2.6), and DQBI*0602 (p = 0.04, RR = 4.0) in Japanese patients for the first time. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DRB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DQB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS HLA-DPB1 HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602 The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. 1286977 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis All three SNPs confirmed association with multiple sclerosis. 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis All three SNPs confirmed association with multiple sclerosis. 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis All three SNPs confirmed association with multiple sclerosis. 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS IL7R Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis Three of the tag SNPs showed significant association in the singlepoint analysis that survived after Bonferroni correction for multiple comparisons: rs2303137 (Puncorrected = 0.004, PBonferroni = 0.05), rs6871748 (Puncorrected = 0.003 and PBonferroni = 0.04) and the exon 6 nonsynonymous SNP rs6897932 (Puncorrected= 0.001, PBonferroni= 0.02). 17660816 Details
Variants Homo sapiens MS VDR Analysis of Vitamin D Receptor Polymorphisms in Patients with Familial Multiple Sclerosis We observed a significant difference between controls and patient group only in Taq I polymorphism (p: 0.025). 29416220 Details
Variants Homo sapiens MS VDR Analysis of Vitamin D Receptor Polymorphisms in Patients with Familial Multiple Sclerosis There were no significant association for the Apa I and Fok I polymorphisms. 29416220 Details
Variants Homo sapiens MS VDR Analysis of Vitamin D Receptor Polymorphisms in Patients with Familial Multiple Sclerosis There were no significant association for the Apa I and Fok I polymorphisms. 29416220 Details
Variants Homo sapiens MS SLC11A1 Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects Statistically significant differences in allelic distribution were observed between the patient and control samples drawn from the same population (P , 0.01). 11358358 Details
Variants Homo sapiens MS SLC11A1 Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects Comparison of Allelic Distribution between South African MS Patients (22 Males, 82 Females) and Controls 11358358 Details
Variants Homo sapiens MS SLC11A1 Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects Comparison of Allelic Distribution between South African MS Patients (22 Males, 82 Females) and Controls 11358358 Details
Variants Homo sapiens MS MBP The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients Our data indicate that in the Italian population the myelin basic protein gene does not play a major role in conferring genetic susceptibility to multiple sclerosis. 7530769 Details
Variants Homo sapiens MS MBP The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients Our data indicate that in the Italian population the myelin basic protein gene does not play a major role in conferring genetic susceptibility to multiple sclerosis. 7530769 Details
Variants Homo sapiens MS MBP The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients Our data indicate that in the Italian population the myelin basic protein gene does not play a major role in conferring genetic susceptibility to multiple sclerosis. 7530769 Details
Variants Homo sapiens MS MBP The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients Our data indicate that in the Italian population the myelin basic protein gene does not play a major role in conferring genetic susceptibility to multiple sclerosis. 7530769 Details
Variants Homo sapiens MS MBP The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients Our data indicate that in the Italian population the myelin basic protein gene does not play a major role in conferring genetic susceptibility to multiple sclerosis. 7530769 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina We found a marginally non-significant increase in the frequency of mutants carriers in the cohort of patients (5.5%) as compared to the control group (1.3%), P = 0.1; OR = 4.5; 95% CI 0.53–40.3. 21567205 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. 21567205 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A [corrected] R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. 21567205 Details
Variants Homo sapiens MS AGER RAGE gene polymorphisms in patients with multiple sclerosis There was a significant difference in RAGE 374 T/A genotype distribution between the controls and the MS patients. 19757202 Details
Variants Homo sapiens MS AGER RAGE gene polymorphisms in patients with multiple sclerosis The AA homozygote variants were detected in 8% of the patients with MS, as compared with 19% of healthy controls (OR=2.75; 95% CI=1.3195.733, p=0.007). 19757202 Details
Variants Homo sapiens MS AGER RAGE gene polymorphisms in patients with multiple sclerosis No differences were observed between the MS patients and the controls, concerning the frequencies of the 479 T/C and G82S genotypes of the RAGE. 19757202 Details
Variants Homo sapiens MS AGER RAGE gene polymorphisms in patients with multiple sclerosis No differences were observed between the MS patients and the controls, concerning the frequencies of the 479 T/C and G82S genotypes of the RAGE. 19757202 Details
Variants Homo sapiens MS TNFSF14 Serum levels of LIGHT in MS Carriers of the GG genotype had the lowest serum levels of LIGHT (p=0.02). 23037546 Details
Variants Homo sapiens MS TNFSF14 Serum levels of LIGHT in MS Carriers of the GG genotype had the lowest serum levels of LIGHT (p=0.02). 23037546 Details
Variants Homo sapiens MS TNFSF14 Serum levels of LIGHT in MS Carriers of the GG genotype had the lowest serum levels of LIGHT (p=0.02). 23037546 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS APOE Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy In this MS study, neither APOE allele status nor promoter region heterogeneity at positions β219 G/T or 113 C/G influenced the clinical disease severity, cognition, or cerebral atrophy. 19786693 Details
Variants Homo sapiens MS MMP3 Association of the MMP-3 5A/6A gene polymorphism with multiple sclerosis in patients from Serbia Results show that the distribution of MMP-3 5A/6A genotype frequencies between MS patients and controls were not significantly different. 17942123 Details
Variants Homo sapiens MS LINE-1 LINE-1 Hypermethylation in Serum Cell-Free DNA of Relapsing Remitting Multiple Sclerosis Patients The methylation level of L1PA2 CpG site 10 was significantly and negatively correlated with the EDSS score (the correlation coefficient is 0.69, p = 0.004). 28707075 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients We did not observe any statically significant difference in the distribution of genotypic VDBP variants between the study groups. 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients We did not observe any statically significant difference in the distribution of genotypic VDBP variants between the study groups. 27904983 Details
Variants Homo sapiens MS CYP27B1 VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients We did not observe any case of all three CYP27B1 variants among MS patients as well as controls. 27904983 Details
Variants Homo sapiens MS CYP27B1 VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients We did not observe any case of all three CYP27B1 variants among MS patients as well as controls. 27904983 Details
Variants Homo sapiens MS CYP27B1 VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients We did not observe any case of all three CYP27B1 variants among MS patients as well as controls. 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS GC VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients Moreover, the three major electrophoretic variants of the VDBP, Gc1f, Gc1s, and Gc2, did not differ between MS patients and control group 27904983 Details
Variants Homo sapiens MS BDNF BDNF A196G and C270T gene polymorphisms and susceptibility to multiple sclerosis in the Polish population. Gender differences In females, the same 270C/T genotype conferred a highly significant risk of MS, whereas the 196G/G genotype was associated with a less pronounced but still significantly increased risk of MS. 18061279 Details
Variants Homo sapiens MS BDNF BDNF A196G and C270T gene polymorphisms and susceptibility to multiple sclerosis in the Polish population. Gender differences In males, the 270C/T genotype (C270T BDNF polymorphism) was associated with a significantly increased risk of MS, whereas the G196A BDNF polymorphism did not confer an increased risk of MS. 18061279 Details
Variants Homo sapiens MS BDNF BDNF A196G and C270T gene polymorphisms and susceptibility to multiple sclerosis in the Polish population. Gender differences Our results show that C270T and G196A BDNF polymorphisms may affect susceptibility to and onset of MS. 18061279 Details
Variants Homo sapiens MS BDNF BDNF A196G and C270T gene polymorphisms and susceptibility to multiple sclerosis in the Polish population. Gender differences Our results show that C270T and G196A BDNF polymorphisms may affect susceptibility to and onset of MS. 18061279 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS SLC9A9 Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions We discovered differential SLC9A9 expression in different brain regions and identified 15 rs9828519-tagged SNPs that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra. 27766536 Details
Variants Homo sapiens MS ST8SIA1 Variants of ST8SIA1 are associated with risk of developing multiple sclerosis Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. 18612409 Details
Variants Homo sapiens MS ST8SIA1 Variants of ST8SIA1 are associated with risk of developing multiple sclerosis Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. 18612409 Details
Variants Homo sapiens MS ST8SIA1 Variants of ST8SIA1 are associated with risk of developing multiple sclerosis Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. 18612409 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II genotypes in Leber's hereditary optic neuropathy There was no significant difference between any group of index cases and controls or affected females and male index cases or controls. 7853025 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-DRB1 Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-B Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS HLA-A Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis HLA-DR, HLA-B, and HLA-A allele frequencies in Norwegian multiple sclerosis (MS) cases and controls 14989713 Details
Variants Homo sapiens MS TRB Restricted TCR Valpha gene rearrangements in T cells recognizing an immunodominant peptide of myelin basic protein in DR2 patients with multiple sclerosis Interestingly, the DR2-restricted T cell clones displayed a biased V gene usage for Vα3 and Vα8, while Vβ gene rearrangements were highly heterogeneous. 9701037 Details
Variants Homo sapiens MS ERVW-1 Molecular characteristics of Human Endogenous Retrovirus type-W in schizophrenia and bipolar disorder HERV-W env transcription was found to be elevated in BD (Po10–4) and in SZ (P 0.012) as compared with HC, but with higher values in BD than in SZ group (Po0.01). 23212585 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis I3(709)*VNTR was associated with susceptibility to MS ( p = 0.004) due to a dearth of heterozygotes in patients (29/122; 23.8%) compared to controls (91/244; 37.3%). 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Genotype distribution and case-control analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis We screened the promoter region, exons 1 – 4 and their splice sites for polymorphisms and tested the association between novel polymorphisms E1(33)*C ! T and I3(2580)*C ! A, and the established 5V( 523)*C ! T and I3(709)*VNTR polymorphisms with susceptibility to, age of onset in, and course and severity of MS in sporadic cases. 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis We screened the promoter region, exons 1 – 4 and their splice sites for polymorphisms and tested the association between novel polymorphisms E1(33)*C ! T and I3(2580)*C ! A, and the established 5V( 523)*C ! T and I3(709)*VNTR polymorphisms with susceptibility to, age of onset in, and course and severity of MS in sporadic cases. 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis We screened the promoter region, exons 1 – 4 and their splice sites for polymorphisms and tested the association between novel polymorphisms E1(33)*C ! T and I3(2580)*C ! A, and the established 5V( 523)*C ! T and I3(709)*VNTR polymorphisms with susceptibility to, age of onset in, and course and severity of MS in sporadic cases. 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS IL4 A population-based study of IL4 polymorphisms in multiple sclerosis Disease course analysis in IL4 12667657 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TGFB1 Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility TGFB1 haplotype frequencies in the familial MS dataset 11311337 Details
Variants Homo sapiens MS TRB Oligoclonal T lymphocytes in the cerebrospinal fluid of patients with multiple sclerosis These results demonstrate that distinct oligoclonal T cell populations can be found in the CSF immune compartment of subjects with nonmalignant inflammatory disease and they can create a new avenue for the investigation of the specificity of the T cell response within the central nervous system. 3258624 Details
Variants Homo sapiens MS NOS3 Endothelial nitric oxide synthase (NOS3) rs2070744 polymorphism and risk for multiple sclerosis The frequencies of rs2070744 genotypes and allelic variants were not associated with the risk of developing MS and were not infuenced by gender, age at onset and severity of MS, the clinical subtype of MS or the HLA-DRB1*1501 genotype. 32449012 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis Our results indicate that the distribution of the rs3135388 gene polymorphism is a risk factor for MS susceptibility in the Czech female population. 23186557 Details
Variants Homo sapiens MS MT-TT Lack of association between mitochondrial DNA G15257A and G15812A variations and multiple sclerosis The mtDNA G15257A variation was found in one of the 100 patients and one of the 100 controls. 26233806 Details
Variants Homo sapiens MS MT-TT Lack of association between mitochondrial DNA G15257A and G15812A variations and multiple sclerosis The mtDNA G15812A variation was not found in any of the 100 patients or 100 controls. 26233806 Details
Variants Homo sapiens MS GAL The effect of galanin gene polymorphism rs948854 on the severity of multiple sclerosis: A significant association with the age of onset An increase in the proportion of patients with a MSSS > 5 (high rate of progression) was observed among the minor G allele carriers (genotypes AG and GG) compared to patients with AA genotype. 32173003 Details
Variants Homo sapiens MS VDR The association between vitamin D receptor polymorphisms and multiple sclerosis in a Turkish population In conclusion, we found a significant association between MS and the FokI polymorphism in our region of Turkey. 29331875 Details
Variants Homo sapiens MS VDR The association between vitamin D receptor polymorphisms and multiple sclerosis in a Turkish population In conclusion, we found a significant association between MS and the FokI polymorphism in our region of Turkey. 29331875 Details
Variants Homo sapiens MS VDR The association between vitamin D receptor polymorphisms and multiple sclerosis in a Turkish population In conclusion, we found a significant association between MS and the FokI polymorphism in our region of Turkey. 29331875 Details
Variants Homo sapiens (human) MS HLA-DQB1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland By the RPE method, the DR2 haplotype, DRB5*0101-DQA1*0102 DQB1*0602, was found to be predispositional (Z = 3.54; p < 0.0004) and had a RR = 2.43; 95% confidence interval (CI) for the RR was 1.43 to 4.13. 8780100 Details
Variants Homo sapiens (human) MS HLA-DQA1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland By the RPE method, the DR2 haplotype, DRB5*0101-DQA1*0102 DQB1*0602, was found to be predispositional (Z = 3.54; p < 0.0004) and had a RR = 2.43; 95% confidence interval (CI) for the RR was 1.43 to 4.13. 8780100 Details
Variants Homo sapiens MS HLA-DRB5 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland By the RPE method, the DR2 haplotype, DRB5*0101-DQA1*0102 DQB1*0602, was found to be predispositional (Z = 3.54; p < 0.0004) and had a RR = 2.43; 95% confidence interval (CI) for the RR was 1.43 to 4.13. 8780100 Details
Variants Homo sapiens MS HLA-DRB1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland After removal of this DR2 haplotype from the analysis, a DR13 haplotype (DRB1'~1302-DQA1'''0102-DQBl"0604) was found to be protective (Z = 2.04; p < 0.04) and had a RR = 0.33; 95% CI for the RR was 0.13 to 0.82. 8780100 Details
Variants Homo sapiens (human) MS HLA-DQB1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland After removal of this DR2 haplotype from the analysis, a DR13 haplotype (DRB1'~1302-DQA1'''0102-DQBl"0604) was found to be protective (Z = 2.04; p < 0.04) and had a RR = 0.33; 95% CI for the RR was 0.13 to 0.82. 8780100 Details
Variants Homo sapiens (human) MS HLA-DQA1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland After removal of this DR2 haplotype from the analysis, a DR13 haplotype (DRB1'~1302-DQA1'''0102-DQBl"0604) was found to be protective (Z = 2.04; p < 0.04) and had a RR = 0.33; 95% CI for the RR was 0.13 to 0.82. 8780100 Details
Variants Homo sapiens (human) MS HLA-DQB1 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland but not DQBl"0201 was protective. 8780100 Details
Variants Homo sapiens MS HLA-DRB5 Evidence for a complex role of HLA class II genotypes in susceptibility to multiple sclerosis in Iceland The significant difference obtained with the x2 disequilibrium statisticz3 (x2 = 6.55, p < 0.05) suggests that the DR2 allele and MS cosegregate and that there is linkage. 8780100 Details
Variants Homo sapiens MS ID1 A cross-reactive anti-myelin basic protein idiotope in cerebrospinal fluid cells in multiple sclerosis Statistically, the difference in the incidence of 14 of 31 MS patients compared with 2 of 19 non-MS subjects was significant. 9484364 Details
Variants Homo sapiens MS IGH Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitis We find that all MOGspecific IgGκ Fab fragments, unrelated to genetic make-up, utilize a restricted set of variable region genes, IGHV1 and IGHV3 for the H chain and IGKV1, IGKV3, and IGKV5 for the L chain. 16528499 Details
Variants Homo sapiens MS IGH Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitis We find that all MOGspecific IgGκ Fab fragments, unrelated to genetic make-up, utilize a restricted set of variable region genes, IGHV1 and IGHV3 for the H chain and IGKV1, IGKV3, and IGKV5 for the L chain. 16528499 Details
Variants Homo sapiens MS IGKV@ Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitis We find that all MOGspecific IgGκ Fab fragments, unrelated to genetic make-up, utilize a restricted set of variable region genes, IGHV1 and IGHV3 for the H chain and IGKV1, IGKV3, and IGKV5 for the L chain. 16528499 Details
Variants Homo sapiens MS IGKV@ Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitis We find that all MOGspecific IgGκ Fab fragments, unrelated to genetic make-up, utilize a restricted set of variable region genes, IGHV1 and IGHV3 for the H chain and IGKV1, IGKV3, and IGKV5 for the L chain. 16528499 Details
Variants Homo sapiens MS IGKV@ Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitis We find that all MOGspecific IgGκ Fab fragments, unrelated to genetic make-up, utilize a restricted set of variable region genes, IGHV1 and IGHV3 for the H chain and IGKV1, IGKV3, and IGKV5 for the L chain. 16528499 Details
Variants Homo sapiens MS HLA-DRB1 Serum concentration of immunoglobulin G-type antibodies against the whole Epstein-Barr nuclear antigen 1 and its aa35-58 or aa398-404 fragments in the sera of patients with systemic lupus erythematosus and multiple sclerosis Carriers of the HLADRB1*15:01 allele were significantly more common among the MS patients than in the group of healthy controls.When the subjects were divided according to sex, the frequency of the HLA-DRB1*15:01 carrier state was significantly higher among MS patients than among healthy subjects, both in females and in males (P = 0·0084 and P = 0·0058). 23379431 Details
Variants Homo sapiens MS CHRNA9 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA9 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA9 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS CHRNA7 Nicotinic acetylcholine receptors α7 and α9 modifies tobacco smoke risk for multiple sclerosis The results suggest that CHRNA7 and CHRNA9 modifies MS risk conferred by tobacco smoke, where risk among smokers was increased in carriers of the minor CHRNA9 haplotype and in non carriers the minor CHRNA7 haplotype. 32924781 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQA Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis TheDQA1 *0301 allele was found to be increased in patients, while the DQA1 *0102 allele was found to be diminished in patients with MSr vs controls(Pc=.001 ). 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQA Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQA Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis TheDQA1 *0301 allele was found to be increased in patients, while the DQA1 *0102 allele was found to be diminished in patients with MSr vs controls(Pc=.001 ). 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQA Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQA1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQA Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis Among the DQB genes, the DQB1 *0502 allele was diminished in patients with MSr vs controls (Pc=.04),while the sum of DQB1*0201 and *0302 alleles was significantly in reased in patients with MSR vs controls (Pc=.003). 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis Among the DQB genes, the DQB1 *0502 allele was diminished in patients with MSr vs controls (Pc=.04),while the sum of DQB1*0201 and *0302 alleles was significantly in reased in patients with MSR vs controls (Pc=.003). 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis Among the DQB genes, the DQB1 *0502 allele was diminished in patients with MSr vs controls (Pc=.04),while the sum of DQB1*0201 and *0302 alleles was significantly in reased in patients with MSR vs controls (Pc=.003). 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS HLA-DQB1 Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis DQB Gene Frequency Analysis of 116 Unrelated Patients With Multiple Sclerosis (MSU)* and 32 Related Patients With Multiple Sclerosis(MSR), 23 Parents (Pa) and 27 Siblings (Si) of Patients With MSR, and 86 Healthy Controls (C) 8442703 Details
Variants Homo sapiens MS APOE No association of apolipoprotein E epsilon4 genotype with faster progression or less recovery of relapses in a Spanish cohort of multiple sclerosis APOE o4 polymorphism is not associated with a more severe clinical course and does not appear to influence recovery of exacerbations. 16459715 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS CD6 Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 We identified association of haplotypes composed of two non synonymous SNPs [rs11230563 (R225W) and rs2074225(A257V)] in the 2nd SRCR domain with susceptibility to MS. 23638056 Details
Variants Homo sapiens MS DBP Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort None of the polymorphisms showed any association with MS onset and progression. 28284354 Details
Variants Homo sapiens MS DBP Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort None of the polymorphisms showed any association with MS onset and progression. 28284354 Details
Variants Homo sapiens MS DBP Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort None of the polymorphisms showed any association with MS onset and progression. 28284354 Details
Variants Homo sapiens MS CYP27B1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP27B1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP27B1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP27B1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP27B1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS VDR Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS CYP24A1 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS DBP Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians We found no significant association of vitamin D pathway genes with MS susceptibility after correction for multiple comparisons. 21440908 Details
Variants Homo sapiens MS STAT3 Epigenetic mechanisms shape the underlining expression regulatory mechanisms of the STAT3 in multiple sclerosis disease Our study demonstrated that the level of STAT3 methylation decreased in relapsing–remitting MS patient compared to control groups, which the decreases were statistically signifcant. 33375941 Details
Variants Homo sapiens MS CYP24A1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. 32844632 Details
Variants Homo sapiens MS CYP24A1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. 32844632 Details
Variants Homo sapiens MS CYP24A1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. 32844632 Details
Variants Homo sapiens MS CYP24A1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. 32844632 Details
Variants Homo sapiens MS CYP24A1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. 32844632 Details
Variants Homo sapiens MS CYP27B1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. 32844632 Details
Variants Homo sapiens MS CYP27B1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. 32844632 Details
Variants Homo sapiens MS CYP27B1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. 32844632 Details
Variants Homo sapiens MS CYP27B1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. 32844632 Details
Variants Homo sapiens MS CYP27B1 [Association between vitamin D status and CYP27b1 and CYP24A1 gene polymorphisms in patients with multiple sclerosis in the Altai region] A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. 32844632 Details
Variants Homo sapiens MS NOS1 An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS NFKB2 An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS FADD An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS GZMB An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS ERBB3 An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS NGF An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS PARP1 An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors no significant differences in allele frequencies were detected between MS patients and controls. 16143043 Details
Variants Homo sapiens MS GNB3 Frequencies of the G-protein beta3 subunit C825T polymorphism and the delta 32 mutation of the chemokine receptor-5 in patients with multiple sclerosis Apart from a trend to a reduced frequency of d32 CCR5 and increased GNB3 825T polymorphism in primary chronic progressive patients, numbers did not reach statistical significance in any group of MS. 12270649 Details
Variants Homo sapiens MS CCR5 Frequencies of the G-protein beta3 subunit C825T polymorphism and the delta 32 mutation of the chemokine receptor-5 in patients with multiple sclerosis Apart from a trend to a reduced frequency of d32 CCR5 and increased GNB3 825T polymorphism in primary chronic progressive patients, numbers did not reach statistical significance in any group of MS. 12270649 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes A2 and B12 significantly decreased. 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes A9 and B7 were found significantly increased in the MS group as a whole. 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-A HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes A9 and B7 were found significantly increased in the MS group as a whole. 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes A2 and B12 significantly decreased. 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-B HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes DR1, DRW6, and DR7 were decreased in MS and DR3 was increased. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes a significant increase of DR2 in MS. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes DR1, DRW6, and DR7 were decreased in MS and DR3 was increased. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes HLA-A AND HLA-B TYPING OF THE TOTAL MS POPULATION 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes DR1, DRW6, and DR7 were decreased in MS and DR3 was increased. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes DR1, DRW6, and DR7 were decreased in MS and DR3 was increased. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes DR1, DRW6, and DR7 were decreased in MS and DR3 was increased. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes an increase of B8-DR3 and a decrease of B12DR7 as well as a decrease in B35-DR1. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes When the remitting MS group was compared to the control group, B7, DR2 and B7-DR2 were found to be increased 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes an increase of B8-DR3 and a decrease of B12DR7 as well as a decrease in B35-DR1. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes an increase of B8-DR3 and a decrease of B12DR7 as well as a decrease in B35-DR1. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes an increase of B8-DR3 and a decrease of B12DR7 as well as a decrease in B35-DR1. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes when patients with severe MS were compared to controls they showed an increased proportion of DR3, B8-DR3 and A1-B8-DR3. 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS HLA-DRB1 HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes PHENOTYPIC ASSOCIATIONS 6978384 Details
Variants Homo sapiens MS TNFSF10 TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis three SNPs showing uncorrected p values,0.05 were successfully replicated: rs4894559 in TRAIL gene; rs4872077, in TRAILR-1 gene; and rs1001793 in TRAILR-2 gene. 21814551 Details
Variants Homo sapiens MS TNFRSF10A TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis three SNPs showing uncorrected p values,0.05 were successfully replicated: rs4894559 in TRAIL gene; rs4872077, in TRAILR-1 gene; and rs1001793 in TRAILR-2 gene. 21814551 Details
Variants Homo sapiens MS TNFRSF10B TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis three SNPs showing uncorrected p values,0.05 were successfully replicated: rs4894559 in TRAIL gene; rs4872077, in TRAILR-1 gene; and rs1001793 in TRAILR-2 gene. 21814551 Details
Variants Homo sapiens MS TNFRSF10B TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis Genotype frequencies of the TRAIL and TRAILR significant polymorphisms. 21814551 Details
Variants Homo sapiens MS TNFRSF10B TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis Genotype frequencies of the TRAIL and TRAILR significant polymorphisms. 21814551 Details
Variants Homo sapiens MS TNFRSF10B TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis Genotype frequencies of the TRAIL and TRAILR significant polymorphisms. 21814551 Details
Variants Homo sapiens MS TNFRSF10B TRAIL/TRAIL receptor system and susceptibility to multiple sclerosis Genotype frequencies of the TRAIL and TRAILR significant polymorphisms. 21814551 Details
Variants Homo sapiens MS IL7R Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta We demonstrate that IL-7Rα is up-regulated in response to IFN β in vitro for haplotypes 1 and 2, but not 4. 20187771 Details
Variants Homo sapiens MS IL7R Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta We demonstrate that IL-7Rα is up-regulated in response to IFN β in vitro for haplotypes 1 and 2, but not 4. 20187771 Details
Variants Homo sapiens MS IL7R Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta We demonstrate that IL-7Rα is up-regulated in response to IFN β in vitro for haplotypes 1 and 2, but not 4. 20187771 Details
Variants Homo sapiens MS IL7R Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta We demonstrate that IL-7Rα is up-regulated in response to IFN β in vitro for haplotypes 1 and 2, but not 4. 20187771 Details
Variants Homo sapiens MS LTA Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients The TNFB2/B2 genotype of TNF-β NcoI polymorphism was associated with increased inflammatory and metabolic markers and this association was different according to sex of MS patients. 25173940 Details
Variants Homo sapiens MS TPH2 Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients The haplotype rs4570625-rs10506645TT of TPH2 gene was associated with the risk of severe disability in primary progressive MS(PPMS), while haplotype rs4570625-rs10506645TC appeared to be protective against disability in secondary progressive MS (SPMS). 22698518 Details
Variants Homo sapiens MS TPH2 Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients The haplotype rs4570625-rs10506645TT of TPH2 gene was associated with the risk of severe disability in primary progressive MS(PPMS), while haplotype rs4570625-rs10506645TC appeared to be protective against disability in secondary progressive MS (SPMS). 22698518 Details
Variants Homo sapiens MS TPH2 Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients The haplotype rs4570625-rs10506645TT of TPH2 gene was associated with the risk of severe disability in primary progressive MS(PPMS), while haplotype rs4570625-rs10506645TC appeared to be protective against disability in secondary progressive MS (SPMS). 22698518 Details
Variants Homo sapiens MS TPH2 Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients The haplotype rs4570625-rs10506645TT of TPH2 gene was associated with the risk of severe disability in primary progressive MS(PPMS), while haplotype rs4570625-rs10506645TC appeared to be protective against disability in secondary progressive MS (SPMS). 22698518 Details
Variants Homo sapiens MS MTNR1B Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients In the MTNR1B gene, the haplotype rs10830963-rs4753426GC was associated with the risk of SPMS, whereas another haplotype rs10830963-rs4753426GT showed an association with the risk of PPMS. 22698518 Details
Variants Homo sapiens MS MTNR1B Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients In the MTNR1B gene, the haplotype rs10830963-rs4753426GC was associated with the risk of SPMS, whereas another haplotype rs10830963-rs4753426GT showed an association with the risk of PPMS. 22698518 Details
Variants Homo sapiens MS MTNR1B Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients In the MTNR1B gene, the haplotype rs10830963-rs4753426GC was associated with the risk of SPMS, whereas another haplotype rs10830963-rs4753426GT showed an association with the risk of PPMS. 22698518 Details
Variants Homo sapiens MS MTNR1B Melatonin pathway genes are associated with progressive subtypes and disability status in multiple sclerosis among Finnish patients In the MTNR1B gene, the haplotype rs10830963-rs4753426GC was associated with the risk of SPMS, whereas another haplotype rs10830963-rs4753426GT showed an association with the risk of PPMS. 22698518 Details
Variants Homo sapiens MS RPS6KB1 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population Our results showed significant difference in allelic frequency of SNP rs180515 among cases and controls (P = 0.004). 28079472 Details
Variants Homo sapiens MS RPS6KB1 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this variation, AA genotype was shown to have protective effect (P = 0.016 and OR = 0.6), while GG genotype was a susceptive genotype to MS (P = 0.04 and OR = 2.2). 28079472 Details
Variants Homo sapiens MS RPS6KB1 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this variation, AA genotype was shown to have protective effect (P = 0.016 and OR = 0.6), while GG genotype was a susceptive genotype to MS (P = 0.04 and OR = 2.2). 28079472 Details
Variants Homo sapiens MS RPS6KB1 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this variation, AA genotype was shown to have protective effect (P = 0.016 and OR = 0.6), while GG genotype was a susceptive genotype to MS (P = 0.04 and OR = 2.2). 28079472 Details
Variants Homo sapiens MS CD86 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population Allelic frequency of SNP rs9282641 also showed significant difference between cases and controls (P = 0.006). 28079472 Details
Variants Homo sapiens MS CD86 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this SNP, AG genotype had predisposing effect (P = 0.04, OR = 2.3), and GG genotype showed protective (P = 0.01, OR = 0.411). 28079472 Details
Variants Homo sapiens MS CD86 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this SNP, AG genotype had predisposing effect (P = 0.04, OR = 2.3), and GG genotype showed protective (P = 0.01, OR = 0.411). 28079472 Details
Variants Homo sapiens MS CD86 Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population For this SNP, AG genotype had predisposing effect (P = 0.04, OR = 2.3), and GG genotype showed protective (P = 0.01, OR = 0.411). 28079472 Details
Variants Homo sapiens MS HERV-K18 Immunogenicity of the Envelope Surface Unit of Human Endogenous Retrovirus K18 in Mice It did not trigger phenotypic changes in a mouse model of experimental autoimmune encephalomyelitis. 35955468 Details
Variants Homo sapiens EAE Galc Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injury thus provide a potential functional link between GALC variants and increased MS susceptibility, particularly due to the failure of remyelination associated with progressive MS. 28575206 Details
Variants Homo sapiens MS NAT1 Smoking and risk of multiple sclerosis: evidence of modification by NAT1 variants Tobacco smoke exposure was associated with MS risk among rs7388368A carriers only 24625537 Details
Variants Homo sapiens MS NAT1 Smoking and risk of multiple sclerosis: evidence of modification by NAT1 variants Tobacco smoke exposure was associated with MS risk among rs7388368A carriers only 24625537 Details
Variants Homo sapiens MS NAT1 Smoking and risk of multiple sclerosis: evidence of modification by NAT1 variants Tobacco smoke exposure was associated with MS risk among rs7388368A carriers only 24625537 Details
Variants Homo sapiens MS IFNG Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility Only D12S375 was weakly associated with MS in the ‘low HLA-risk’ group (ie individuals carrying neither DRB1*03 nor DRB1*04 alleles) (P 0.024), especially in men (P 0.049). 12486605 Details
Variants Homo sapiens MS IFNG Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility Only D12S375 was weakly associated with MS in the ‘low HLA-risk’ group (ie individuals carrying neither DRB1*03 nor DRB1*04 alleles) (P 0.024), especially in men (P 0.049). 12486605 Details
Variants Homo sapiens MS IFNG Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility Only D12S375 was weakly associated with MS in the ‘low HLA-risk’ group (ie individuals carrying neither DRB1*03 nor DRB1*04 alleles) (P 0.024), especially in men (P 0.049). 12486605 Details
Variants Homo sapiens MS IFNG Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility Only D12S375 was weakly associated with MS in the ‘low HLA-risk’ group (ie individuals carrying neither DRB1*03 nor DRB1*04 alleles) (P 0.024), especially in men (P 0.049). 12486605 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis However, the TGFB11869 genotype CC was significantly more frequent in patients (p 5 0.031, x2 test). 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis However, the TGFB11869 genotype CC was significantly more frequent in patients (p 5 0.031, x2 test). 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis However, the TGFB11869 genotype CC was significantly more frequent in patients (p 5 0.031, x2 test). 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis The highest frequency of the TGFB11869 genotype CC was observed in male patients (25.2% vs. 10.0% in controls, p 5 0.004, x2 test), and carriership of TGFB11869 allele C was correspondingly increased in male patients 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis The highest frequency of the TGFB11869 genotype CC was observed in male patients (25.2% vs. 10.0% in controls, p 5 0.004, x2 test), and carriership of TGFB11869 allele C was correspondingly increased in male patients 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis N/A 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis N/A 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis N/A 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis N/A 15450129 Details
Variants Homo sapiens MS TGFB1 Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis N/A 15450129 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The frequencies of the AA genotype and A allele were significantly higher in the MS patients than in the healthy controls. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The frequencies of the AA genotype and A allele were significantly higher in the MS patients than in the healthy controls. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The frequencies of the AA genotype and A allele were significantly higher in the MS patients than in the healthy controls. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The frequencies of the AA genotype and A allele were significantly higher in the MS patients than in the healthy controls. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis The frequencies of the AA genotype and A allele were significantly higher in the MS patients than in the healthy controls. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS FOXP3 FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis There was a significant association between FOXP3 rs3761548 variant and female MS patients. 32988630 Details
Variants Homo sapiens MS CD45 A C77G point mutation in CD45 exon 4, which is associated with the development of multiple sclerosis and increased susceptibility to HIV-1 infection, is undetectable in Japanese population All 272 subjects showed homozygosity inthe CD45 exon4, suggesting that this mutationis absent or very rare in Japanese population. 14641523 Details
Variants Homo sapiens MS CTSS Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS CTSS Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS TRB Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS MBP Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS CD86 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS CD86 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS IL1R1 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS FAS Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS TRB Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS IL12RB2 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Additionally, we recorded nominally significant associations of response with five other genes, MBP, CD86, FAS, IL1R1 and IL12RB2, which are likely to be involved in glatiramer acetate’s modeof-action, both directly and indirectly. 17622942 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 These differences were not significant when corrected for the number of antigens tested. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 This raises the possibility of a significant association between HLA-DQwl and MS. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in north-east Scotland. An association with HLA-DQw1 no significant HLA associations were found with age of onset of disease or initial symptoms. 3492235 Details
Variants Homo sapiens MS IL1RN Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Our results showed no significant differences in the distribution of these polymorphisms between MS patients and controls. 19876593 Details
Variants Homo sapiens MS IL1B Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Our results showed no significant differences in the distribution of these polymorphisms between MS patients and controls. 19876593 Details
Variants Homo sapiens MS IL1B Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Our results showed no significant differences in the distribution of these polymorphisms between MS patients and controls. 19876593 Details
Variants Homo sapiens MS IL1RN Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Furthermore, stratification for clinical characteristics, such as age at disease onset, clinical course, sex, and severity did not provide significant differences between patients and controls. 19876593 Details
Variants Homo sapiens MS IL1B Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Furthermore, stratification for clinical characteristics, such as age at disease onset, clinical course, sex, and severity did not provide significant differences between patients and controls. 19876593 Details
Variants Homo sapiens MS IL1B Interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms in Greek multiple sclerosis (MS) patients with bout-onset MS Furthermore, stratification for clinical characteristics, such as age at disease onset, clinical course, sex, and severity did not provide significant differences between patients and controls. 19876593 Details
Variants Homo sapiens MS HLA-DRB1 Parent-of-origin effects at the major histocompatibility complex in multiple sclerosis MS-associated allele HLA-DRB115 had a higher female-to-male ratio versus those lacking it (P 5 0.00023). 20634196 Details
Variants Homo sapiens MS HLA-A Gene-environment interactions between HLA B7/A2, EBV antibodies are associated with MRI injury in multiple sclerosis The HLA B7–A2 haplotype was significantly associated with higher T2-LV and T1-LV and a trend toward lower BPF was observed. 19232441 Details
Variants Homo sapiens MS HLA-B Gene-environment interactions between HLA B7/A2, EBV antibodies are associated with MRI injury in multiple sclerosis The HLA B7–A2 haplotype was significantly associated with higher T2-LV and T1-LV and a trend toward lower BPF was observed. 19232441 Details
Variants Homo sapiens MS ITGA4 The role of VLA4 polymorphisms in multiple sclerosis: an association study None of the genotypes or alleles com binations of the VLA4 variants were associated with suscep tibility to MS disease. 17609118 Details
Variants Homo sapiens MS ITGA4 The role of VLA4 polymorphisms in multiple sclerosis: an association study None of the genotypes or alleles com binations of the VLA4 variants were associated with suscep tibility to MS disease. 17609118 Details
Variants Homo sapiens MS MX1 Pharmacogenetics of MXA SNPs in interferon-beta treated multiple sclerosis patients No significant association was found between the MXA genotype at these two SNPs and clinical, MRI and MXA gene expression in MS patients treated with IFN-β therapy. 17126411 Details
Variants Homo sapiens MS MX1 Pharmacogenetics of MXA SNPs in interferon-beta treated multiple sclerosis patients No significant association was found between the MXA genotype at these two SNPs and clinical, MRI and MXA gene expression in MS patients treated with IFN-β therapy. 17126411 Details
Variants Homo sapiens MS IL4 Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels In dual luciferase assays of cultured Jurkat cells the cloned promoter comprising the 589 T allele leads to higher expression as compared to the respective construct with the C allele. 17855802 Details
Variants Homo sapiens MS ANKRD55 ANKRD55 and DHCR7 are novel multiple sclerosis risk loci Though the genetic association of DHCR7 with MS does not reach genome wide significance, ANKRD55 shows an unusually strong association with MS in this Spanish dataset. 22130326 Details
Variants Homo sapiens MS DHCR7 ANKRD55 and DHCR8 are novel multiple sclerosis risk loci The G allele of rs12785878, which is associated with lower levels of 25(OH)D and risk for T1D, enhances susceptibility to MS. 22130326 Details
Variants Homo sapiens MS AFF3 ANKRD55 and DHCR9 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS CCR6 ANKRD55 and DHCR10 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS CYP2R1 ANKRD55 and DHCR11 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS IL2RA ANKRD55 and DHCR12 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS IL10 ANKRD55 and DHCR13 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS PRDM1 ANKRD55 and DHCR14 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS PRDM1 ANKRD55 and DHCR15 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS PXK ANKRD55 and DHCR16 are novel multiple sclerosis risk loci Summary of association results in the joint Spanish multiple sclerosis dataset 22130326 Details
Variants Homo sapiens MS SERPINE1 Plasminogen activator inhibitor 1 gene and risk of MS in women Women with RRMS had the most significant increase in 5G5G genotype frequency (OR, 2.48; p 5 0.028). 10802801 Details
Variants Homo sapiens MS SERPINE1 Plasminogen activator inhibitor 1 gene and risk of MS in women Also, there was a decrease in frequency of the 4G4G genotype in women with MS (OR, 0.376; p 5 0.032). 10802801 Details
Variants Homo sapiens MS CBLB Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population It was found that in this sample also, the common allele T of rs9657904 is significantly positively associated (one-tailed p7.35310-5) and with a comparable effect size with MS (OR1.31, 95% CI 1.14 to 1.52). 21037273 Details
Variants Homo sapiens MS PRL Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRL Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRL Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRL Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRL Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRLR Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRLR Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRLR Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS PRLR Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus No significant difference was observed when comparing the weighted mean of the gene frequencies of both MS (total MS) and both control pools (total control). 12559630 Details
Variants Homo sapiens MS HLA-DRA Pars planitis: clinical features and class II HLA associations In addition, there was a suggestion that the association with HLA-DR15 was greater in patients with both pars planitis and multiple sclerosis. 10080220 Details
Variants Homo sapiens MS HLA-DRA Pars planitis: clinical features and class II HLA associations In addition, there was a suggestion that the association with HLA-DR15 was greater in patients with both pars planitis and multiple sclerosis. 10080220 Details
Variants Homo sapiens MS IGHG1 Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis We report here the results of restriction fragment length polymorphisms (RFLP) analysis of the constant gene regions of immunoglobulin gamma (IgG C) 1, 2 and 3 in MS patients and controls, using the restriction enzymes TaqI, PvulI and BstEII. No significant differences were observed, regardless of subgrouping of patients according to clinical disease type or HLA class II phenotype. 8096224 Details
Variants Homo sapiens MS IGHG1 Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis We report here the results of restriction fragment length polymorphisms (RFLP) analysis of the constant gene regions of immunoglobulin gamma (IgG C) 1, 2 and 3 in MS patients and controls, using the restriction enzymes TaqI, PvulI and BstEII. No significant differences were observed, regardless of subgrouping of patients according to clinical disease type or HLA class II phenotype. 8096224 Details
Variants Homo sapiens MS IGHG1 Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis We report here the results of restriction fragment length polymorphisms (RFLP) analysis of the constant gene regions of immunoglobulin gamma (IgG C) 1, 2 and 3 in MS patients and controls, using the restriction enzymes TaqI, PvulI and BstEII. No significant differences were observed, regardless of subgrouping of patients according to clinical disease type or HLA class II phenotype. 8096224 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population The alleles DQA1*0101 and DQA1*0102 occurred in a significantly higher proportion in the cases than in the Con-2 group. 10394051 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population The alleles DQA1*0101 and DQA1*0102 occurred in a significantly higher proportion in the cases than in the Con-2 group. 10394051 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population Gene frequencies for HLA DQA1* alleles in cases affected by MS and controls 10394051 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population Gene frequencies for HLA DQA1* alleles in cases affected by MS and controls 10394051 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population In contrast, the allele frequency of DQA1*0301 allele in cases was significantly lower than in Con-2. 10394051 Details
Variants Homo sapiens (human) MS HLA-DQA1 Multiple sclerosis: association to HLA DQalpha in a tropical population Significant differences were shonw only in the distributions of the DQA1*0401 allele. 10394051 Details
Variants Homo sapiens MS HLA-DRB1 Influence of the HLA-DRB1 genotype on antibody development to interferon beta in multiple sclerosis In the discovery and validation cohorts, HLADRB1*04:01, *04:08, *16:01 were identified as genetic markers that are associated with an increased risk of anti-interferon beta antibody development (P.05). 21482927 Details
Variants Homo sapiens MS HLA-DRB1 Influence of the HLA-DRB1 genotype on antibody development to interferon beta in multiple sclerosis In addition, alleles with a protective potential were identified, including HLA-DRB1*03:01, *04:04, *11:04. However, after correction for multiple testing, protective alleles did not reach statistical significance. 21482927 Details
Variants Homo sapiens MS IL1A Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population There wasn’t any association between IL-1A 889, IL1RN VNTR and IL-1B +3953 genotypes and MS risk. 23594042 Details
Variants Homo sapiens MS IL-1RN Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population There wasn’t any association between IL-1A 889, IL1RN VNTR and IL-1B +3953 genotypes and MS risk. 23594042 Details
Variants Homo sapiens MS IL1B Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population However, we have found significantly decreased frequency of IL-1B 511 genotype in MS patients compared to controls. 23594042 Details
Variants Homo sapiens MS IL1B Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population There wasn’t any association between IL-1A 889, IL1RN VNTR and IL-1B +3953 genotypes and MS risk. 23594042 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis The distribution of -1722 T C, -1661 A G, -318 C T and +49 A G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis The distribution of -1722 T C, -1661 A G, -318 C T and +49 A G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis The distribution of -1722 T C, -1661 A G, -318 C T and +49 A G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis The distribution of -1722 T C, -1661 A G, -318 C T and +49 A G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis The distribution of -1722 T C, -1661 A G, -318 C T and +49 A G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis Preliminary results showed significant increase of +49 G allele and )1661 AG genotype, as well as TGCA haplotype among patients than controls. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis List of observed haplotypes among patients and healthy controls and the statistical analyses are summarized in Table 3. 19737153 Details
Variants Homo sapiens EAE HLA-DQB1 HLA DR and DQ interaction in myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in HLA class II transgenic mice This would suggest that the presence of more than one susceptible allele, namely HLA DRB1*1502 and DQB1*0302 resulted in enhanced severity of disease in the DRB1*1502/DQB1*0302 mice, possibly due to the additional selection and expansion of potential autoreactive T cells. 16194572 Details
Variants Homo sapiens EAE HLA-DRB1 HLA DR and DQ interaction in myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in HLA class II transgenic mice This would suggest that the presence of more than one susceptible allele, namely HLA DRB1*1502 and DQB1*0302 resulted in enhanced severity of disease in the DRB1*1502/DQB1*0302 mice, possibly due to the additional selection and expansion of potential autoreactive T cells. 16194572 Details
Variants Homo sapiens MS PLA2G7 Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS. 15081260 Details
Variants Homo sapiens MS PLA2G7 Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS. 15081260 Details
Variants Homo sapiens MS PLA2G7 Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS. 15081260 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1 and month of birth in multiple sclerosis Month of birth, HLA-DRB1 genotype, and risk of multiple sclerosis are associated. 20018638 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups In French Canadians, MS was positively associated with DQAl"0102 and DQB1*0602, but there was no positive association of either allele with Sardinian MS, which, by contrast, was positively associated with DQB1*0302 and *0201 and with DQA1*0301, whereas none of these alleles was MS-associated in French Canadians. 8450999 Details
Variants Homo sapiens MS MIR146A Genetic association of MiR-146a with multiple sclerosis susceptibility in the Chinese population No significant differences were detected in the distribution of the two miR-146a polymorphisms between the patients and controls (P > 0.05). 25591770 Details
Variants Homo sapiens MS MIR146A Genetic association of MiR-146a with multiple sclerosis susceptibility in the Chinese population However, stratification by gender showed a statistically significant difference in the frequency of the genotype rs2910164 between MS patients and control females (P=0.009). 25591770 Details
Variants Homo sapiens MS MIR146A Genetic association of MiR-146a with multiple sclerosis susceptibility in the Chinese population Further stratification analysis by subgroup revealed that the miR146a rs2910164 C allele conferred a higher risk of developing relapsing–remitting MS (RRMS (P=0.018). 25591770 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1*04:05 allele is associated with intracortical lesions on three-dimensional double inversion recovery images in Japanese patients with multiple sclerosis ICLs were negatively associated with the presence of the HLA-DRB1*04:05 allele. 28474969 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1*04:05 allele is associated with intracortical lesions on three-dimensional double inversion recovery images in Japanese patients with multiple sclerosis ICLs are associated with greater disease severity in Japanese MS patients and are partly suppressed by the HLA-DRB1*04:05 allele. 28474969 Details
Variants Homo sapiens MS TGFB1 Lack of association of transforming growth factor (TGF)-beta 1 and beta 2 gene polymorphisms with multiple sclerosis (MS) in Northern Ireland These data indicate that TGF-b1 and b2 genes are not loci inˉuencing MS susceptibility, either RR/SPMS or PPMS, in this population. 10335519 Details
Variants Homo sapiens MS TGFB2 Lack of association of transforming growth factor (TGF)-beta 1 and beta 2 gene polymorphisms with multiple sclerosis (MS) in Northern Ireland These data indicate that TGF-b1 and b2 genes are not loci inˉuencing MS susceptibility, either RR/SPMS or PPMS, in this population. 10335519 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens (human) MS HLA-DQA1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR and -DQ associations with multiple sclerosis in Turkey Significant differences were detected between MS and control populations in the frequencies of DRB1*1501, DRB1*04, DQB1*0302, DQB1*0602, DQB1*0501, DQA1*0101, and DQA1*0103. 9328791 Details
Variants Homo sapiens MS SP140 A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis rs28445040 variant was the causal factor for skipping of exon 7. 26152201 Details
Variants Homo sapiens MS CBLB A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function The MS risk-related single nucleotide polymorphism of CBLB rs12487066 is associated with diminished CBL-B expression levels. 25261476 Details
Variants Homo sapiens MS CBLB A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function Interestingly, binding was predicted only for the C/EBPb binding site if it contained the risk (T) allele of rs12487066 , whereas the prediction for rs9657904 and rs2028597 showed no differential binding for C/EBPb. 25261476 Details
Variants Homo sapiens MS CBLB A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function Interestingly, binding was predicted only for the C/EBPb binding site if it contained the risk (T) allele of rs12487066 , whereas the prediction for rs9657904 and rs2028597 showed no differential binding for C/EBPb. 25261476 Details
Variants Homo sapiens MS HLA-DRB1 Chronic cerebrospinal vascular insufficiency is not associated with HLA DRB1*1501 status in multiple sclerosis patients The presence of CCSVI was independent of HLA DRB1*1501 status in MS patients. 21340025 Details
Variants Homo sapiens MS APOE Apolipoprotein E (APOE) phenotype and APOE concentrations in multiple sclerosis and acute herpes zoster There were no differences in apoE allele frequencies in MS or herpes zoster patients compared to the allele frequencies of controls. 10949525 Details
Variants Homo sapiens MS APOE Apolipoprotein E (APOE) phenotype and APOE concentrations in multiple sclerosis and acute herpes zoster There were no differences in apoE allele frequencies in MS or herpes zoster patients compared to the allele frequencies of controls. 10949525 Details
Variants Homo sapiens MS APOE Apolipoprotein E (APOE) phenotype and APOE concentrations in multiple sclerosis and acute herpes zoster There were no differences in apoE allele frequencies in MS or herpes zoster patients compared to the allele frequencies of controls. 10949525 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles we conclude that Caucasian and Sardinian populations share HLA-DQB1 'k0201 and 'k0302 alleles in genetic susceptibility to MS. 1565247 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis The case-control analysis with 734 MS samples and 588 controls showed an association between the T allele of rs17525809 and the disease which remained significant after correction for multiple testing by 10,000 permutations. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis Case-control analysis of selected SNPs of the P2X7 receptor gene in the whole cohort. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis Case-control analysis of selected SNPs of the P2X7 receptor gene in the whole cohort. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis In turn, we observed that rs17525809 is in LD with rs208294 and that the CG haplotype they form is less frequentinMS than in controls. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis In turn, we observed that rs17525809 is in LD with rs208294 and that the CG haplotype they form is less frequentinMS than in controls. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis In turn, we observed that rs17525809 is in LD with rs208294 and that the CG haplotype they form is less frequentinMS than in controls. 21906809 Details
Variants Homo sapiens MS P2RX7 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis Case-control analysis of haplotypes formed by rs17525809 and rs208294 of P2X7 receptor gene in the whole cohort. 21906809 Details
Variants Homo sapiens MS GRIK2 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis Case-control analysis of haplotypes formed by rs17525809 and rs208294 of P2X7 receptor gene in the whole cohort. 21906809 Details
Variants Homo sapiens MS GRIK2 Gain-of-function of P2X7 receptor gene variants in multiple sclerosis Case-control analysis of haplotypes formed by rs17525809 and rs208294 of P2X7 receptor gene in the whole cohort. 21906809 Details
Variants Homo sapiens MS HLA-DRB1 Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles In HLA-DRB1 analyses HLA-DRB1*15:01 was a stronger risk factor for OCB positive than OCB negative MS, whereas HLA-DRB1*04:04 was associated with increased risk of OCB negative MS and reduced risk of OCB positive MS. 23472185 Details
Variants Homo sapiens MS HLA-DRB1 Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles In HLA-DRB1 analyses HLA-DRB1*15:01 was a stronger risk factor for OCB positive than OCB negative MS, whereas HLA-DRB1*04:04 was associated with increased risk of OCB negative MS and reduced risk of OCB positive MS. 23472185 Details
Variants Homo sapiens MS VDR Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles These results indicate that VDRG polymorphism may be associated with susceptibility to MS. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DPB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles HLA alleles may correlate with risk for MS together with VDRG. 10967184 Details
Variants Homo sapiens MS RGS1 Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS KIF21B Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS TMEM39A Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS IL7R Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS IL2RA Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS CLEC16A Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS CLEC16A Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS IRF8 Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS CD226 Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS TYK2 Genotype-phenotype correlation for non-HLA disease associated risk alleles in multiple sclerosis No SNP was associated with systematic deflection in time to disability milestones, age at onset or time to secondary progression. 22732448 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DPB1 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis we identified seven SNPs that were independently associated with MS conditional on the others. 21049023 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1 confers increased risk of pediatric-onset MS in children with acquired demyelination The specificity of the DRB1*15 risk allele for children with subsequent MS diagnosis, but not for all children with ADS. 21288988 Details
Variants Homo sapiens MS CTLA4 CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms however, there was a clear relationship between genotype and CTLA-4 expression. 11426323 Details
Variants Homo sapiens MS CTLA4 CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms however, there was a clear relationship between genotype and CTLA-4 expression. 11426323 Details
Variants Homo sapiens MS TNF [Analysis of linkage and association of alleles of proinflammatory cytokines genes IL-6, IFNg and TNF with multiple sclerosis using transmission disequilibrium test (TDT)] Thus, data obtained indicate the participation of TNF gene in MS susceptibility in Russians. 21090238 Details
Variants Homo sapiens MS IFNG [Analysis of linkage and association of alleles of proinflammatory cytokines genes IL-6, IFNg and TNF with multiple sclerosis using transmission disequilibrium test (TDT)] Linkage/association of IFNG and IL-6 alleles with MS was not revealed. 21090238 Details
Variants Homo sapiens MS IL6 [Analysis of linkage and association of alleles of proinflammatory cytokines genes IL-6, IFNg and TNF with multiple sclerosis using transmission disequilibrium test (TDT)] Linkage/association of IFNG and IL-6 alleles with MS was not revealed. 21090238 Details
Variants Homo sapiens MS HLA-DPB1 Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis phenotype DR2(+), DC 2.2(-) is significantly more frequent in MS but not different in IDD. 6324215 Details
Variants Homo sapiens MS HLA-DPB1 Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis phenotype DR2(+), DC 2.2(-) is significantly more frequent in MS but not different in IDD. 6324215 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis A higher HLAGB was associated with younger age at onset and the atrophy of subcortical gray matter fraction in women with relapsing-onset MS (standard β = 1.20 × 101; P = 1.7 × 102 and standard β = 1.67 × 101; P = 2.3 × 104, respectively), which were driven mainly by the HLA-DRB1*15:01 haplotype. 27244296 Details
Variants Homo sapiens MS HLA-A Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-B Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-B Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-B Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-B Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens (human) MS HLA-DQB1 Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS HLA-DRB1 Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis Association of HLA Alleles With MS. 27244296 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients IL-10G12 allele was significantly increased in MS patients. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS IL10 Interleukin-10 polymorphisms in Spanish multiple sclerosis patients No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12458048 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II and response to interferon-beta in multiple sclerosis HLA genotype does not appear to influence the clinical response to IFN-b in MS patients. 16281922 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population The HLA-DRB103 allele was positively associated with MS in the overall patient population. 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population HLA-DRB115 occurred more frequently in the group with benign disease and in the group with non-benign disease compared with controls. 17412364 Details
Variants Homo sapiens MS HLA-DRB1 The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population Phenotype frequency of HLA-DRB1 alleles in MS patients and healthy controls 17412364 Details
Variants Homo sapiens MS FasL Association of a CA repeat polymorphism upstream of the Fas ligand gene with multiple sclerosis The HLA DRB1 1501–DQB1 0602 haplotype is associated with B allele with a relative frequency higher than A allele 0.52 and 0.48 in patients vs. 0.68 and 0.32 in controls . 11438180 Details
Variants Homo sapiens MS FasL Association of a CA repeat polymorphism upstream of the Fas ligand gene with multiple sclerosis The HLA DRB1 1501–DQB1 0602 haplotype is associated with B allele with a relative frequency higher than A allele 0.52 and 0.48 in patients vs. 0.68 and 0.32 in controls . 11438180 Details
Variants Homo sapiens MS IGH A new risk variant for multiple sclerosis at the immunoglobulin heavy chain locus associates with intrathecal IgG, IgM index and oligoclonal bands We found that rs11621145 showed statistically significant evidence for association with susceptibility to MS. 25392328 Details
Variants Homo sapiens MS MEFV Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q (n=7) substitution. 22337722 Details
Variants Homo sapiens MS MEFV Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q (n=7) substitution. 22337722 Details
Variants Homo sapiens MS TNF TNF-alpha promoter polymorphisms in multiple sclerosis: no association with -308 and -238 alleles, but the -857 alleles in associated with the disease in Turkish patients No differences in the distribution of the TNF-a )238 and )308 alleles were observed. 20082645 Details
Variants Homo sapiens MS TNF TNF-alpha promoter polymorphisms in multiple sclerosis: no association with -308 and -238 alleles, but the -857 alleles in associated with the disease in Turkish patients No differences in the distribution of the TNF-a )238 and )308 alleles were observed. 20082645 Details
Variants Homo sapiens MS TNF TNF-alpha promoter polymorphisms in multiple sclerosis: no association with -308 and -238 alleles, but the -857 alleles in associated with the disease in Turkish patients We observed a statistically significant increase in TNF-a 857 CC genotype in MS patients than controls (P < 0.001) while TNF-a 857 CT genotype showed a significant negative correlation with MS patients (P = 0.033). 20082645 Details
Variants Homo sapiens MS PTPRC Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population This finding suggests a role, in at least a group of patients, for the PTPRC mutation in genetic susceptibility to MS. 12147336 Details
Variants Homo sapiens MS TRB Heterogeneity of the T-cell receptor beta gene rearrangements generated in myelin basic protein-specific T-cell clones isolated from a patient with multiple sclerosis Thus, the human T-cell response to myelin basic protein is exceedingly heterogeneous, even among T cells that recognize the same small fragment of the molecule in association with the same class I1 restriction element. 1710434 Details
Variants Homo sapiens MS SPON1 Assessment of the genetic contribution to brain magnetic resonance imaging lesion load and atrophy measures in multiple sclerosis patients Specifically, in PMS we found evidence of association for the rs7104613 T in gene SPON1, which was associated with a reduction of DeepGMV and was the only marker withstanding multiple testing correction according to our estimated number of effective tests. 33864731 Details
Variants Homo sapiens MS SEMA3A Assessment of the genetic contribution to brain magnetic resonance imaging lesion load and atrophy measures in multiple sclerosis patients For RRMS, clustering of phenotypes revealed hierarchically grouped associations for the GM volumetric measures driven by variants in SEMA3A and GRIN2B loci, with evidence of association between rs740948A in SEMA3A and higher WMV, whereas the variant rs7970177T in GRIN2B is associated with decreased volume of deep GM. 33864731 Details
Variants Homo sapiens MS MBP Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians When MS patients and healthy control subjects were stratified according to HLA-DRB1 phenotypes, a significant association of MS with MBP alleles was found only in the DR4- and DR5-positive subgroups. 12939427 Details
Variants Homo sapiens MS MBP Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians When MS patients and healthy control subjects were stratified according to HLA-DRB1 phenotypes, a significant association of MS with MBP alleles was found only in the DR4- and DR5-positive subgroups. 12939427 Details
Variants Homo sapiens MS CD40 [Genetic risk factors for multiple sclerosis in the population of Altay] The "case-control" research in Russian Altai territory population has proved that DR15 and DR3 as well as the combination of female sex and alleles A of TNFα of rs1800629 locus are associated with high risk of multiple sclerosis. The relationship between disease and CD40 polymorphism (rs6074022) was not found. 21666592 Details
Variants Homo sapiens MS TNF [Genetic risk factors for multiple sclerosis in the population of Altay] The "case-control" research in Russian Altai territory population has proved that DR15 and DR3 as well as the combination of female sex and alleles A of TNFα of rs1800629 locus are associated with high risk of multiple sclerosis. The relationship between disease and CD40 polymorphism (rs6074022) was not found. 21666592 Details
Variants Homo sapiens MS VDR Four single nucleotide polymorphisms from the vitamin D receptor gene in UK multiple sclerosis None of the individual SNP’s assays showed evidence for association with susceptibility to multiple sclerosis. Analysis of the four marker haplotypes was equally disappointing. 15311355 Details
Variants Homo sapiens MS VDR Four single nucleotide polymorphisms from the vitamin D receptor gene in UK multiple sclerosis None of the individual SNP’s assays showed evidence for association with susceptibility to multiple sclerosis. Analysis of the four marker haplotypes was equally disappointing. 15311355 Details
Variants Homo sapiens MS VDR Four single nucleotide polymorphisms from the vitamin D receptor gene in UK multiple sclerosis None of the individual SNP’s assays showed evidence for association with susceptibility to multiple sclerosis. Analysis of the four marker haplotypes was equally disappointing. 15311355 Details
Variants Homo sapiens MS VDR Four single nucleotide polymorphisms from the vitamin D receptor gene in UK multiple sclerosis None of the individual SNP’s assays showed evidence for association with susceptibility to multiple sclerosis. Analysis of the four marker haplotypes was equally disappointing. 15311355 Details
Variants Homo sapiens MS NOS2 Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population Results of a chi-squared analysis and a Fisher’s exact test revealed that allele and genotype distributions between cases and controls were not significantly different for the total population and for each subtype of MS. 15275951 Details
Variants Homo sapiens MS NOS2 Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population Results of a chi-squared analysis and a Fisher’s exact test revealed that allele and genotype distributions between cases and controls were not significantly different for the total population and for each subtype of MS. 15275951 Details
Variants Homo sapiens MS NOS2 Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population Results of a chi-squared analysis and a Fisher’s exact test revealed that allele and genotype distributions between cases and controls were not significantly different for the total population and for each subtype of MS. 15275951 Details
Variants Homo sapiens MS NOS2 Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population Results of a chi-squared analysis and a Fisher’s exact test revealed that allele and genotype distributions between cases and controls were not significantly different for the total population and for each subtype of MS. 15275951 Details
Variants Homo sapiens MS NOS2 Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population Results of a chi-squared analysis and a Fisher’s exact test revealed that allele and genotype distributions between cases and controls were not significantly different for the total population and for each subtype of MS. 15275951 Details
Variants Homo sapiens MS IL1RN Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients The A1/A1 genotype of the anti-inflammatory cytokine interleukin 1 receptor antagonist (IL-1Ra) polymorphism was more frequent in 339 Italian MS patients than in healthy controls (HCs). 10371542 Details
Variants Homo sapiens MS IL1RN Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients A more aggressive disease course was also associated with A11 genotypes and might reflect the reduced ability of mononuclear cell cultures of A11 HCs to produce IL-1Ra. 10371542 Details
Variants Homo sapiens MS IL1RN Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients The A1/A1 genotype was more (and the A2/A2 less) represented among MS patients than it was in HCs. 10371542 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil In contrast with the observations concerning the White sample, the DRB11503 allele (p= 0.0244; OR = 4.61), instead of DRB11501 (p= 0.2389; OR = 2.39), was also associated with MS susceptibility. 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil HLA-DRB1 allele frequencies in the Mulatto sample of patients showing relapsing/remitting multiple sclerosis (MS) and healthy Mulatto controls 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil In contrast with the observations concerning the White sample, the DRB11503 allele (p= 0.0244; OR = 4.61), instead of DRB11501 (p= 0.2389; OR = 2.39), was also associated with MS susceptibility. 17681614 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1*15 allele group and the DRB1*1501 and DRB1*1503 alleles with multiple sclerosis in White and Mulatto samples from Brazil Disease susceptibility was confirmed for the DRB115 allele group (p = 0.0024; OR = 4.28). 17681614 Details
Variants Homo sapiens MS HLA-DRB1 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] An association of DR2 specificity of the DRBI gene with MS was found in the combined group of Kazakhs, Russians, and offsprings from mixed marriages. 21866867 Details
Variants Homo sapiens MS IL1B [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS IL2 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS IL2 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS IL6 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] Statistically significant (p < 0.05) differences between the MS patients and healthy individuals were observed in the distribution of the genotypes at site -634 G/C of the IL-6 gene in the Kazakh group, in the allelic frequencies at site -308 A/G in the promoter region of the TNFalpha gene in the Russian group, and in the frequencies of alleles at the polymorphic Q 192R locus of the PON1 gene in the Kazakh group. 21866867 Details
Variants Homo sapiens MS PON1 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS PON1 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] Statistically significant (p < 0.05) differences between the MS patients and healthy individuals were observed in the distribution of the genotypes at site -634 G/C of the IL-6 gene in the Kazakh group, in the allelic frequencies at site -308 A/G in the promoter region of the TNFalpha gene in the Russian group, and in the frequencies of alleles at the polymorphic Q 192R locus of the PON1 gene in the Kazakh group. 21866867 Details
Variants Homo sapiens MS UCP2 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS HLA-DRB1 [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No correlation between DR2 specificity and MS was found in the separately examined groups of Kazakhs and Russians. 21866867 Details
Variants Homo sapiens MS IL1B [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A). 21866867 Details
Variants Homo sapiens MS TNF [Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan] Statistically significant (p < 0.05) differences between the MS patients and healthy individuals were observed in the distribution of the genotypes at site -634 G/C of the IL-6 gene in the Kazakh group, in the allelic frequencies at site -308 A/G in the promoter region of the TNFalpha gene in the Russian group, and in the frequencies of alleles at the polymorphic Q 192R locus of the PON1 gene in the Kazakh group. 21866867 Details
Variants Homo sapiens MS APOA1 An APOA1 promoter polymorphism is associated with cognitive performance in patients with multiple sclerosis APOA1 A-allele carriers displayed superior overall cognitive performance compared with non-carriers (P 0.008) and had a three-fold decrease in the relative risk of overall cognitive impairment. 18805838 Details
Variants Homo sapiens MS APOA1 An APOA1 promoter polymorphism is associated with cognitive performance in patients with multiple sclerosis We found an association of the APOA1 –75G/A promoter polymorphism with cognitive performance in MS. 18805838 Details
Variants Homo sapiens MS LRP2 Genetic basis for relapse rate in multiple sclerosis: Association with LRP2 genetic variation The rs12988804*T allele is associated with a 1.16-fold increased hazard rate for a relapse occurring (P = 0.0078) and a higher baseline relapse rate prior to immunomodulatory treatment (P = 0.044). 29303040 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS NR3C1 Sequencing analysis of the human glucocorticoid receptor (NR3C1) gene in multiple sclerosis patients None of the identified alleles/genotypes were found to be associated with the severity of disease, response to glucocorticoids and disease subtypes. 27000245 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population However, no association was found between ATG5 variants and MS patients. 24953774 Details
Variants Homo sapiens MS ATG5 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II A significant increase of DRB1*15 allele frequency and HLA-DRB1*15-DQB1*06 haplotype were observed in Moroccan MS patients. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II A significant increase of DRB1*15 allele frequency and HLA-DRB1*15-DQB1*06 haplotype were observed in Moroccan MS patients. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DRB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II A significant increase of DRB1*15 allele frequency and HLA-DRB1*15-DQB1*06 haplotype were observed in Moroccan MS patients. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS HLA-DQB1 Genetic factors and multiple sclerosis in the Moroccan population: a role for HLA class II No association of the DR15 allele with sex or age at onset was appreciated. Concerning HLA-DQB1* alleles, no significant difference between patients and controls was found. 23849771 Details
Variants Homo sapiens MS LTA Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis However, the co-occurrence of HLA-DRB 1 * 15,16 and the TNF-b*2 allele gives rise to a slightly increased relative risk for MS(RR =5.39). No such increase was found for the DRB 1 *04 positive RA patients. 9098447 Details
Variants Homo sapiens MS LTA Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis However, the co-occurrence of HLA-DRB 1 * 15,16 and the TNF-b*2 allele gives rise to a slightly increased relative risk for MS(RR =5.39). No such increase was found for the DRB 1 *04 positive RA patients. 9098447 Details
Variants Homo sapiens MS LTA Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis However, the co-occurrence of HLA-DRB 1 * 15,16 and the TNF-b*2 allele gives rise to a slightly increased relative risk for MS(RR =5.39). No such increase was found for the DRB 1 *04 positive RA patients. 9098447 Details
Variants Homo sapiens MS LTA Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis However, the co-occurrence of HLA-DRB 1 * 15,16 and the TNF-b*2 allele gives rise to a slightly increased relative risk for MS(RR =5.39). No such increase was found for the DRB 1 *04 positive RA patients. 9098447 Details
Variants Homo sapiens MS LTA Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis However, the co-occurrence of HLA-DRB 1 * 15,16 and the TNF-b*2 allele gives rise to a slightly increased relative risk for MS(RR =5.39). No such increase was found for the DRB 1 *04 positive RA patients. 9098447 Details
Variants Homo sapiens MS HLA-DRB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DRB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DRB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DRB5 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DRB5 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DRB5 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQA1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQA1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQA1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS HLA-DQB1 Novel HLA-DR2-related haplotypes in Hong Kong Chinese implicate the DQB1*0602 allele in susceptibility to multiple sclerosis Novel DR,DQ linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DRZpositive MS patients, although a role for the DRBl*1501 allele in MS pathogenesis has not been excluded by this study. 1567812 Details
Variants Homo sapiens MS IL-1RL1 Serum IL-33 Level and IL-33, IL1RL1 Gene Polymorphisms in Asthma and Multiple Sclerosis Patients The frequency distribution of the genotype in rs10204137 variant of IL-33 gene in MS patients and healthy subjects was significantly different (p = 0.013). 30950351 Details
Variants Homo sapiens MS IL33 Serum IL-33 Level and IL-33, IL1RL1 Gene Polymorphisms in Asthma and Multiple Sclerosis Patients The frequency distribution of the genotype in rs1342326 variant of IL-33 gene in patients with asthma, MS and healthy subjects was not significantly different (P>0.05). 30950351 Details
Variants Homo sapiens MS TNF [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] The previously described DRB1*15(2) allele, the TNFa9 allele and the biallelic combination (CCR5d32,DRB1*04) were reidentified as MS-associated in Russians. 19894308 Details
Variants Homo sapiens MS HLA-DRB1 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] The previously described DRB1*15(2) allele, the TNFa9 allele and the biallelic combination (CCR5d32,DRB1*04) were reidentified as MS-associated in Russians. 19894308 Details
Variants Homo sapiens MS CCR5 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] The previously described DRB1*15(2) allele, the TNFa9 allele and the biallelic combination (CCR5d32,DRB1*04) were reidentified as MS-associated in Russians. 19894308 Details
Variants Homo sapiens MS HLA-DRB1 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] The previously described DRB1*15(2) allele, the TNFa9 allele and the biallelic combination (CCR5d32,DRB1*04) were reidentified as MS-associated in Russians. 19894308 Details
Variants Homo sapiens MS TGFB1 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS CTLA4 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS HLA-DRB1 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS LTA [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS TNF [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS CTLA4 [Genetic predisposition to multiple sclerosis as a polygenic autoimmune disease] We also identified previously unknown MS-associated tri-allelic combinations: (-509 TGFb1*C, DRB1*18(3),CTLA4*G) and (-238TNF*B1, -308TNF*A2,CTLA4*G). 19894308 Details
Variants Homo sapiens MS TNF Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS LTA Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS APOE Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For lead, there were six statistically significant environmental interactions identified: rs1799964/C (TNF-α), rs769178/T (TNF-β), rs2189480/T (VDR), rs3782905/C (VDR), rs4890785/T (MBP), and rs7412/T (APOE). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For mercury, there were four statistically significant environmental interactions: rs1540339/T (VDR), rs2189480/T (VDR), rs2239186/G (VDR), and rs8096433/A (MBP). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For mercury, there were four statistically significant environmental interactions: rs1540339/T (VDR), rs2189480/T (VDR), rs2239186/G (VDR), and rs8096433/A (MBP). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For mercury, there were four statistically significant environmental interactions: rs1540339/T (VDR), rs2189480/T (VDR), rs2239186/G (VDR), and rs8096433/A (MBP). 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Three statistically significant environmental interactions were also identified with reported exposure to solvents: rs2238136/T (VDR), rs8096433/A (MBP), and rs17660901/G (MBP). 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Three statistically significant environmental interactions were also identified with reported exposure to solvents: rs2238136/T (VDR), rs8096433/A (MBP), and rs17660901/G (MBP). 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Three statistically significant environmental interactions were also identified with reported exposure to solvents: rs2238136/T (VDR), rs8096433/A (MBP), and rs17660901/G (MBP). 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions For mercury, there were four statistically significant environmental interactions: rs1540339/T (VDR), rs2189480/T (VDR), rs2239186/G (VDR), and rs8096433/A (MBP). 25137520 Details
Variants Homo sapiens MS IL7R Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS TNF Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS TNF Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS LTA Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS LTA Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS HLA-DRB1 Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS TRB Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS TRB Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS IL2RA Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS VDR Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS MBP Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS APOE Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS APOE Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Associations between environmental exposures, SNPs, and MS case-control status adjusted for education and ancestry. 25137520 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis This suggests that DR15 exerts a susceptibility rather than disease modifying effect in multiple sclerosis. 11796767 Details
Variants Homo sapiens MS HLA-DRB1 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS TGFB1 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS CCR5 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS HLA-DRB1 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS TGFB1 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS CCR5 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS IFNAR1 Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients Carriers of the most significant combinations: DRB1*15 + TGFB1*T + CCR5*d + IFNAR1*G and DRB1*15 + TGFB1*T + CCR5*d (permutation p-values: 0.0056 and 0.013, respectively) had a 14 to 15-times increased risk of ineffective response to GA therapy. 22111603 Details
Variants Homo sapiens MS TNF An investigation of susceptibility loci in benign, aggressive and primary progressive multiple sclerosis in Northern Irish population Two microsatellite markers were significant: D3S1278 (Chr 3q13, P < 0.001) and tumor necrosis factor (TNF)-α (Chr 6p21, P < 0.001). 19244395 Details
Variants Homo sapiens MS TNF An investigation of susceptibility loci in benign, aggressive and primary progressive multiple sclerosis in Northern Irish population Two microsatellite markers were significant: D3S1278 (Chr 3q13, P < 0.001) and tumor necrosis factor (TNF)-α (Chr 6p21, P < 0.001). 19244395 Details
Variants Homo sapiens MS TNF An investigation of susceptibility loci in benign, aggressive and primary progressive multiple sclerosis in Northern Irish population A further three markers were significant in our preliminary analysis suggesting a trend toward impact on disease outcome; D4S432 (Chr 4p16, P = 0.001), D2S347 (Chr 2q14, P = 0.003), and D19S903 (Chr 19p13, P = 0.003). 19244395 Details
Variants Homo sapiens MS TNF An investigation of susceptibility loci in benign, aggressive and primary progressive multiple sclerosis in Northern Irish population A further three markers were significant in our preliminary analysis suggesting a trend toward impact on disease outcome; D4S432 (Chr 4p16, P = 0.001), D2S347 (Chr 2q14, P = 0.003), and D19S903 (Chr 19p13, P = 0.003). 19244395 Details
Variants Homo sapiens MS TNF An investigation of susceptibility loci in benign, aggressive and primary progressive multiple sclerosis in Northern Irish population A further three markers were significant in our preliminary analysis suggesting a trend toward impact on disease outcome; D4S432 (Chr 4p16, P = 0.001), D2S347 (Chr 2q14, P = 0.003), and D19S903 (Chr 19p13, P = 0.003). 19244395 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families, and a dominant DRB1*15 dose effect was confirmed. 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis P-values from PDT analyses of DRB1 in MS families 16905561 Details
Variants Homo sapiens MS HLA-DRB1 Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis In contrast, results obtained from 2201 MS cases argue convincingly that DRB1*15 genotypes do not modulate age of onset, or significantly influence disease severity measured using expanded disease disability score and disease duration. 16905561 Details
Variants Homo sapiens MS ERVW-1 The DNA copy number of human endogenous retrovirus-W (MSRV-type) is increased in multiple sclerosis patients and is influenced by gender and disease severity MSRV increases its copy number in PBMC of MS patients and particularly in women with high clinical scores. 23308264 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex The risk carried by HLA-DRB115 was increased in families with affected second-degree relatives (AUNN: OR 5 4.07) when compared with those consisting only first-degree relatives (ASP: OR 5 2.17), establishing heterogeneity of risk among HLADRB115 haplotypes based on whether collateral parental relatives are affected. 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 Epigenetics in multiple sclerosis susceptibility: difference in transgenerational risk localizes to the major histocompatibility complex A comparison of the transmission of HLA-DRB1 alleles in ASP and AUNN families 19098025 Details
Variants Homo sapiens MS HLA-DRB1 The influence of HLA-DR and -DQ alleles on progression to multiple sclerosis following a clinically isolated syndrome Conversion to MS was positively associated with the DRB1*1501.DQA1*0102.DQBl*0602 haplotype, but the influence of HLA was only significant in patients with disseminated brain lesions at presentation (MRI positive); MS developed in 86% of MRI-positive, DRBl*1501-positive patients compared with 55% of MRI -positive, DRB 1 * 1501-negative patients. 8244781 Details
Variants Homo sapiens MS HLA-DQA1 The influence of HLA-DR and -DQ alleles on progression to multiple sclerosis following a clinically isolated syndrome Conversion to MS was positively associated with the DRB1*1501.DQA1*0102.DQBl*0602 haplotype, but the influence of HLA was only significant in patients with disseminated brain lesions at presentation (MRI positive); MS developed in 86% of MRI-positive, DRBl*1501-positive patients compared with 55% of MRI -positive, DRB 1 * 1501-negative patients. 8244781 Details
Variants Homo sapiens MS HLA-DQB1 The influence of HLA-DR and -DQ alleles on progression to multiple sclerosis following a clinically isolated syndrome Conversion to MS was positively associated with the DRB1*1501.DQA1*0102.DQBl*0602 haplotype, but the influence of HLA was only significant in patients with disseminated brain lesions at presentation (MRI positive); MS developed in 86% of MRI-positive, DRBl*1501-positive patients compared with 55% of MRI -positive, DRB 1 * 1501-negative patients. 8244781 Details
Variants Homo sapiens MS KIF5A Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS KIF5A Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS KIF5A Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS KIF5A Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS KIF5A Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS PIP4K2C Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS ARHGEF25 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS ARHGEF25 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS OS9 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS OS9 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS AGAP2 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS AGAP2 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS AGAP2 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS MARCHF9 Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS TSFM Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis Association study of the different Tag-SNPs with multiple sclerosis 23160276 Details
Variants Homo sapiens MS SELP Candidate gene analysis of selectin cluster in patients with multiple sclerosis No significant differences in either allelic or genotypic frequency in all the SNPs tested were found in the Italian population. A tendency to an increased frequency of the rs6133 T allele was observed in the American population, but applying the Bonferroni correction the significance threshold was not reached. 19240957 Details
Variants Homo sapiens MS SELL Candidate gene analysis of selectin cluster in patients with multiple sclerosis Combining the two SNPs, we found no difference in haplotype distribution in patients compared with controls, either in Italian or in American population. 19240957 Details
Variants Homo sapiens MS SELE Candidate gene analysis of selectin cluster in patients with multiple sclerosis Combining the two SNPs, we found no difference in haplotype distribution in patients compared with controls, either in Italian or in American population. 19240957 Details
Variants Homo sapiens MS CD24 CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population Our results confirm the association between the V/V genotype at aa 57 of this gene and MS and highlight the importance of taking into account the origin of the subjects to avoid a population bias. 16900767 Details
Variants Homo sapiens MS MCAT Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus The K haplotype shows association with MS after correction for multiple testing. 18708297 Details
Variants Homo sapiens MS MCAT Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus The K haplotype shows association with MS after correction for multiple testing. 18708297 Details
Variants Homo sapiens MS IL-12B Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population Our study showed that the IL-12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population. 24547735 Details
Variants Homo sapiens MS IL-23R Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population Our study showed that the IL-12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population. 24547735 Details
Variants Homo sapiens MS IL-23R Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population Our study showed that the IL-12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population. 24547735 Details
Variants Homo sapiens MS IL-23R Association of IL-23 and its receptor gene single-nucleotide polymorphisms with multiple sclerosis in Chinese southern population Our study showed that the IL-12B and IL23R gene SNPs does not seem to be associated with MS susceptibility in Chinese southern population. 24547735 Details
Variants Homo sapiens MS APOE Changes in DNA methylation in APOE and ACKR3 genes in multiple sclerosis patients and the relationship with their heavy metal blood levels The data indicate that the increase in expression of ACKR3 gene by hypomethylation and the decrease in expression of APOE gene via hypermethylation are possibly involved in the onset and progression of inflammatory processes in MS patients. 34624384 Details
Variants Homo sapiens MS ACKR3 Changes in DNA methylation in APOE and ACKR3 genes in multiple sclerosis patients and the relationship with their heavy metal blood levels The data indicate that the increase in expression of ACKR3 gene by hypomethylation and the decrease in expression of APOE gene via hypermethylation are possibly involved in the onset and progression of inflammatory processes in MS patients. 34624384 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between the allele frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS GSTP1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis OGG1 Ser/Cys and Ser/Cys + Cys/Cys genotypes had higher MS risk. 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis OGG1 Ser/Cys and Ser/Cys + Cys/Cys genotypes had higher MS risk. 26562193 Details
Variants Homo sapiens MS OGG1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis Associations between genotype frequencies of GSTP1, OGG1 and XRCC1 gene polymorphisms and the risk of Multiple Sclerosis (MS). 26562193 Details
Variants Homo sapiens MS XRCC1 The impact of detoxifying and repair gene polymorphisms and the levels of serum ROS in the susceptibility to multiple sclerosis XRCC1 Arg/Gln +Gln/Gln genotype increased the risk of MS. 26562193 Details
Variants Homo sapiens MS HLA-DPB1 Interferon beta-1b exacerbates multiple sclerosis with severe optic nerve and spinal cord demyelination MS with DPB10501 showed severe optic neuritis, myelitis and CSF pleocytosis 17125797 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP1 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS TAP2 The relationship of TAP1 and TAP2 dimorphisms to multiple sclerosis susceptibility Our results do not support a role for the five polymorphisms examined in the etiology of this disease. 7797617 Details
Variants Homo sapiens MS CNR1 Polymorphisms of the cannabinoid 1 receptor gene and cognitive impairment in multiple sclerosis No associations were identified between these CNR1 variants and cognitive impairment in MS. 17942526 Details
Variants Homo sapiens MS CNR1 Polymorphisms of the cannabinoid 1 receptor gene and cognitive impairment in multiple sclerosis No associations were identified between these CNR1 variants and cognitive impairment in MS. 17942526 Details
Variants Homo sapiens MS CNR1 Polymorphisms of the cannabinoid 1 receptor gene and cognitive impairment in multiple sclerosis No associations were identified between these CNR1 variants and cognitive impairment in MS. 17942526 Details
Variants Homo sapiens MS KLRB1 Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655 We could confirm a marginally significant association between rs4763655 and MS (P=0.046, odds ratio=1.06 (1.00–1.13)) in a large Scandinavian case–control study of 5367 MS patients and 4485 controls. 21610746 Details
Variants Homo sapiens MS GSTT1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort The findings demonstrated a highly significant association between the null genotypes and MS (OR = 6.89 for M1/T1). 29055472 Details
Variants Homo sapiens MS GSTM1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort The findings demonstrated a highly significant association between the null genotypes and MS (OR = 6.89 for M1/T1). 29055472 Details
Variants Homo sapiens MS GSTT1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort The null genotypes were found to be more frequent in women than in men. Moreover, a significant association was observed between the null genotype and EDSS 6–10 (OR = 3.199). 29055472 Details
Variants Homo sapiens MS GSTM1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort The null genotypes were found to be more frequent in women than in men. Moreover, a significant association was observed between the null genotype and EDSS 6–10 (OR = 3.199). 29055472 Details
Variants Homo sapiens MS GSTT1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort No significant association was noticed between MS type and the studied genotypes. 29055472 Details
Variants Homo sapiens MS GSTM1 Human glutathione s-transferase enzyme gene variations and risk of multiple sclerosis in Iranian population cohort No significant association was noticed between MS type and the studied genotypes. 29055472 Details
Variants Homo sapiens MS ARHGAP45 Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjgren's syndrome In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. 15593299 Details
Variants Homo sapiens MS ARHGAP45 Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjgren's syndrome In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. 15593299 Details
Variants Homo sapiens MS ARHGAP45 Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjgren's syndrome In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. 15593299 Details
Variants Homo sapiens MS ABCA7 Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjgren's syndrome In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. 15593299 Details
Variants Homo sapiens MS ABCA7 Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjgren's syndrome In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. 15593299 Details
Variants Homo sapiens MS CIITA Environment-gene interaction in multiple sclerosis: human herpesvirus 6 and MHC2TA We then analyzed the combinations of genotypes formed by those two markers, which were in moderate linkage disequilibrium in our population, and multivariate analysis suggested that it depended more on rs4774 than on rs3087456. 17678724 Details
Variants Homo sapiens MS CIITA Environment-gene interaction in multiple sclerosis: human herpesvirus 6 and MHC2TA We then analyzed the combinations of genotypes formed by those two markers, which were in moderate linkage disequilibrium in our population, and multivariate analysis suggested that it depended more on rs4774 than on rs3087456. 17678724 Details
Variants Homo sapiens MS PTPN22 Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn’s disease and multiple sclerosis these analyses do not exclude a role for the PTPN22 allele in susceptibility to CD or MS. 16391555 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS MEFV The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. 24712487 Details
Variants Homo sapiens MS HPRT1 Longitudinal study of frequency of HPRT mutant T cells in patients with multiple sclerosis In the chronic progressive group of MS, the mF increased over a 3-year period and appeared to correlate with the clinical worsening of the disease. 8309581 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India HLA-DRB1*15:01, 15:02 and DQB1*06:02 are the predisposing alleles while HLA-DRB1*14:04 is the protective allele for MS in our population. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India HLA-DRB1*15:01, 15:02 and DQB1*06:02 are the predisposing alleles while HLA-DRB1*14:04 is the protective allele for MS in our population. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India HLA-DRB1*15:01, 15:02 and DQB1*06:02 are the predisposing alleles while HLA-DRB1*14:04 is the protective allele for MS in our population. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DRB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India HLA-DRB1*15:01, 15:02 and DQB1*06:02 are the predisposing alleles while HLA-DRB1*14:04 is the protective allele for MS in our population. 33657520 Details
Variants Homo sapiens MS HLA-DQB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Distribution of HLA-DQB1 allele carrier frequency in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Frequency distribution of the DRB1-DQB1 haplotypes in patients with MS and controls. 33657520 Details
Variants Homo sapiens MS HLA-DRB1 Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Univariate analysis of IL7R SNP (rs6897932) showed no significant association with MS in our population whereas analysis of HLA-DRB1 alleles and IL7R (rs6897932) genotypes showed significant association between the HLA-DRB1*15:01/15:02 and the IL7R (rs6897932) CC genotype (OR = 3.58, p = 0.0002). 33657520 Details
Variants Homo sapiens MS IL7R Class II HLA (DRB1, & DQB1) alleles and IL7R (rs6897932) variants and the risk for Multiple Sclerosis in Kerala, India Univariate analysis of IL7R SNP (rs6897932) showed no significant association with MS in our population whereas analysis of HLA-DRB1 alleles and IL7R (rs6897932) genotypes showed significant association between the HLA-DRB1*15:01/15:02 and the IL7R (rs6897932) CC genotype (OR = 3.58, p = 0.0002). 33657520 Details
Variants Homo sapiens MS PTPN22 Protein tyrosine phosphatase gene (PTPN22) polymorphism in multiple sclerosis In conclusion, our data suggest that the PTPN22 1858 SNP has no, or only a negligible effect on MS susceptibility in the Spanish population. However, a minor effect of the PTPN22 SNP cannot be ruled out, and this may only be verifiable in an extremely large data set. 15765267 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Carriage of the C allele of the ITGA4 promoter SNP rs1449263 was independently and weakly increased in MS patients from each population compared to respective controls (P= 0.037 in Basque; and P= 0.042 in Nordic cohorts), though these associations were lost upon application of permutation correction. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS ITGA4 ITGA4 polymorphisms and susceptibility to multiple sclerosis Although this study has failed to find any associations, we suggest that further studies should fully assess the contribution of this gene to MS susceptibility. 17689671 Details
Variants Homo sapiens MS SCN10A Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis Two SCN10A polymorphisms in high linkage disequilibrium showed significant association with MSFC performance in patients with MS. 26740675 Details
Variants Homo sapiens MS SCN10A Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis Two SCN10A polymorphisms in high linkage disequilibrium showed significant association with MSFC performance in patients with MS. 26740675 Details
Variants Homo sapiens MS CYBB TGFβ regulates persistent neuroinflammation by controlling Th1 polarization and ROS production via monocyte-derived dendritic cells We identified SNPs in the human NOX2 (CYBB) gene that associated with the severity of MS, and significantly increased CYBB expression was recorded in PBMCs from both MS patients and from MS severity risk allele rs72619425-A carrying individuals. 27479807 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DRB1 Genetic risk variants in African Americans with multiple sclerosis The following major histocompatibility complex risk alleles were replicated: HLADRB1*15:01, HLA-DRB1*03:01, as well as HLA-DRB1*04:05 and the African-specific risk allele of HLA-DRB1*15:03. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS HLA-DQB1 Genetic risk variants in African Americans with multiple sclerosis None of the HLA-DQB1 alleles were associated with MS. 23771490 Details
Variants Homo sapiens MS ST8SIA1 Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families No significant association was found in the entire sample or when stratifying by transmitting parent, indicating that this gene plays little or no role in susceptibility to MS in the Canadian population. 19428123 Details
Variants Homo sapiens MS ST8SIA1 Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families No significant association was found in the entire sample or when stratifying by transmitting parent, indicating that this gene plays little or no role in susceptibility to MS in the Canadian population. 19428123 Details
Variants Homo sapiens MS ST8SIA1 Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families No significant association was found in the entire sample or when stratifying by transmitting parent, indicating that this gene plays little or no role in susceptibility to MS in the Canadian population. 19428123 Details
Variants Homo sapiens MS ST8SIA1 Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families No significant association was found in the entire sample or when stratifying by transmitting parent, indicating that this gene plays little or no role in susceptibility to MS in the Canadian population. 19428123 Details
Variants Homo sapiens MS CD40 Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells We found that carrying the risk allele rs4810485*T lowered the cell-surface expression of CD40 in all tested B cell subtypes, while carrying the risk allele rs9282641*G increased the expression of CD86. 29361022 Details
Variants Homo sapiens MS CD86 Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells We found that carrying the risk allele rs4810485*T lowered the cell-surface expression of CD40 in all tested B cell subtypes, while carrying the risk allele rs9282641*G increased the expression of CD86. 29361022 Details
Variants Homo sapiens MS CD40 Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells Finally, we also observed that the risk allele rs4810485*T was associated with decreased levels of interleukin-10 (P = 0.020). 29361022 Details
Variants Homo sapiens MS GAL Single-nucleotide polymorphism rs948854 in human galanin gene and multiple sclerosis: a gender-specific risk factor The minor allele (G) increased susceptibility to MS in men. 27870457 Details
Variants Homo sapiens MS GAL Single-nucleotide polymorphism rs948854 in human galanin gene and multiple sclerosis: a gender-specific risk factor The G allele in men was also significantly associated with the late onset of MS. 27870457 Details
Variants Homo sapiens MS GAL Single-nucleotide polymorphism rs948854 in human galanin gene and multiple sclerosis: a gender-specific risk factor Furthermore, rs948854 polymorphism affected the rate of MS progression depending on the sex of the patients. 27870457 Details
Variants Homo sapiens MS PRNP No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis There was no statistically significant difference in frequency of Prnp129 genotypes between patients with PPMS and controls (P =.14) 21320996 Details
Variants Homo sapiens MS PRNP No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis There was also no difference in allelic frequency distributions between the 498 patients with PPMS and 979 patients with relapsing-remitting MS (P=.23) 21320996 Details
Variants Homo sapiens MS VEGFA Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis The distribution of VEGFA rs1413711 genotypes (T/T, T/C, C/C) was statistically significantly different in the ON without MS group compared to the control. 33121296 Details
Variants Homo sapiens MS VEGFA Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis The distribution of VEGFA rs1413711 genotypes (T/T, T/C, C/C) was statistically significantly different in the ON without MS group compared to the control. 33121296 Details
Variants Homo sapiens MS VEGFA Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis The distribution of VEGFA rs1413711 genotypes (T/T, T/C, C/C) was statistically significantly different in the ON without MS group compared to the control. 33121296 Details
Variants Homo sapiens MS TIMP3 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS TIMP3 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS TIMP3 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS IL6 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS IL6 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS IL6 Association of VEGFA, TIMP-3, and IL-6 gene polymorphisms with predisposition to optic neuritis and optic neuritis with multiple sclerosis Our results showed that the IL-6 rs1800796, TIMP-3 rs9621532, and IL-6 rs1800796 were not associated with ON with MS development. 33121296 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition we found evidence that the DRB1*04 sub-allele HLA-DRB1*0407 and HLA-DRB1*0901 may be protective. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition we found evidence that the DRB1*04 sub-allele HLA-DRB1*0407 and HLA-DRB1*0901 may be protective. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition we found evidence that the DRB1*04 sub-allele HLA-DRB1*0407 and HLA-DRB1*0901 may be protective. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition we found evidence that the DRB1*04 sub-allele HLA-DRB1*0407 and HLA-DRB1*0901 may be protective. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition to the known risk allele HLA-DRB1*1501, evidence of increased susceptibility to MS was found for three additional alleles, DRB1*0405, DRB1*1104 and DRB1*1303, though the power was insufficient to sustain significance for these when crudely Bonferroni corrected over all alleles considered. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition to the known risk allele HLA-DRB1*1501, evidence of increased susceptibility to MS was found for three additional alleles, DRB1*0405, DRB1*1104 and DRB1*1303, though the power was insufficient to sustain significance for these when crudely Bonferroni corrected over all alleles considered. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition we found evidence that the DRB1*04 sub-allele HLA-DRB1*0407 and HLA-DRB1*0901 may be protective. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition to the known risk allele HLA-DRB1*1501, evidence of increased susceptibility to MS was found for three additional alleles, DRB1*0405, DRB1*1104 and DRB1*1303, though the power was insufficient to sustain significance for these when crudely Bonferroni corrected over all alleles considered. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition to the known risk allele HLA-DRB1*1501, evidence of increased susceptibility to MS was found for three additional alleles, DRB1*0405, DRB1*1104 and DRB1*1303, though the power was insufficient to sustain significance for these when crudely Bonferroni corrected over all alleles considered. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study In addition to the known risk allele HLA-DRB1*1501, evidence of increased susceptibility to MS was found for three additional alleles, DRB1*0405, DRB1*1104 and DRB1*1303, though the power was insufficient to sustain significance for these when crudely Bonferroni corrected over all alleles considered. 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS HLA-DRB1 Influence of HLA-DRB1 allele heterogeneity on disease risk and clinical course in a West Australian MS cohort: a high-resolution genotyping study Carriage frequencies of HLA-DRB1 alleles in MS vs controls by 2-digit and 4-digit HLA genotyping 20207784 Details
Variants Homo sapiens MS MTHFR Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients No significant differences were found in the frequency of the MTHFR C677T polymorphism between MS patients and healthy controls. 23523621 Details
Variants Homo sapiens MS MTHFR Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients However, the genotype prevalence of the missense variant MTHFR A1298C was significantly different between patients and controls. 23523621 Details
Variants Homo sapiens MS SPP1 Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population Interestingly, individuals carrying the 5891C allele, which is more prevalent in patients with MS in Japanese populations, displayed significantly lower levels of total serum IgE. 16433860 Details
Variants Homo sapiens MS SPP1 Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population Associations between these SPP1 polymorphisms and total serum Ig E levels remained significant even after adjusting for the presence of atopy (P = 0.012 for 5891 C/T; P = 0.002 for 7052 T/C). 16433860 Details
Variants Homo sapiens MS SPP1 Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population The 1687A/G, 381T/C and 94 deletion/G polymorphisms displayed no association with total serum IgE levels. 16433860 Details
Variants Homo sapiens MS SPP1 Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population The 1687A/G, 381T/C and 94 deletion/G polymorphisms displayed no association with total serum IgE levels. 16433860 Details
Variants Homo sapiens MS SPP1 Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population The 1687A/G, 381T/C and 94 deletion/G polymorphisms displayed no association with total serum IgE levels. 16433860 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQA1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DQB1 Peripheral blood cell bulk cultures are not suitable for the analysis of the genetic control of T-cell cytokine function We observed no significant differences of the cytokine production in relation to disease status or any HLA polymorphism. 11470147 Details
Variants Homo sapiens MS HLA-DRB1 Binding of myelin basic protein peptides to human histocompatibility leukocyte antigen class II molecules and their recognition by T cells from multiple sclerosis patients These results have implications for the role of hMBP as relevant autoantigen, and of DRB1*1501 as susceptibility allele in MS. 7679413 Details
Variants Homo sapiens MS HLA-DRB1 Immunogenetics of multiple sclerosis and optic neuritis: DNA polymorphism of HLA class II genes The present study shows that, in Scandinavians, MS is associated with DRB1*1501, DQAI*0201, and DQBl*0602. 1349586 Details
Variants Homo sapiens MS HLA-DQA1 Immunogenetics of multiple sclerosis and optic neuritis: DNA polymorphism of HLA class II genes The present study shows that, in Scandinavians, MS is associated with DRB1*1501, DQAI*0201, and DQBl*0602. 1349586 Details
Variants Homo sapiens MS HLA-DQB1 Immunogenetics of multiple sclerosis and optic neuritis: DNA polymorphism of HLA class II genes The present study shows that, in Scandinavians, MS is associated with DRB1*1501, DQAI*0201, and DQBl*0602. 1349586 Details
Variants Homo sapiens MS HLA-DPA1 Immunogenetics of multiple sclerosis and optic neuritis: DNA polymorphism of HLA class II genes The frequencies in MS of DPw4- associated DNA fragments were not significantly increased although the RR of DPAI*0103 was 2.9 (not significant) and DPB1*04 was 2.5 (not significant). 1349586 Details
Variants Homo sapiens MS HLA-DPB1 Immunogenetics of multiple sclerosis and optic neuritis: DNA polymorphism of HLA class II genes The frequencies in MS of DPw4- associated DNA fragments were not significantly increased although the RR of DPAI*0103 was 2.9 (not significant) and DPB1*04 was 2.5 (not significant). 1349586 Details
Variants Homo sapiens MS ERVW-1 MSRV pol sequence copy number as a potential marker of multiple sclerosis MSRV pol sequence copy number was significantly greater in MS patients than in normal individuals. 14704480 Details
Variants Homo sapiens MS NFASC Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter The results showed a significant increase in dephosphorylated NF expression in patients heterozygous (AG/AG; p<0.05) or homozygous (AA/AA; p<0.05) for both the rs12368653 and rs703842 risk SNP, when compared to patients with no copy of either SNP. 26785938 Details
Variants Homo sapiens MS NFASC Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter The results showed a significant increase in dephosphorylated NF expression in patients heterozygous (AG/AG; p<0.05) or homozygous (AA/AA; p<0.05) for both the rs12368653 and rs703842 risk SNP, when compared to patients with no copy of either SNP. 26785938 Details
Variants Homo sapiens MS PDLIM7 Epstein-Barr virus genotypes in multiple sclerosis We found a variety of LMP-1 sequences in both MS and controls, with no significant differences between the groups. 18184350 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-C HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Significant differences are found only for A3 and DR2, the latter showing a highly significant difference between controls and the phenotyped MS group. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-DRB1 HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-A HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS HLA-B HLA and multiple sclerosis: population and families study Differences observed are not significant. 3874450 Details
Variants Homo sapiens MS IGH B cell repertoire diversity and clonal expansion in multiple sclerosis brain lesions Significant rearrangement diversity and deviation from the normal Ig heavy(H) chain repertoire was observed. 10528220 Details
Variants Homo sapiens MS IL2RA Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource Here we use polychromatic flow cytometry to show that differences in surface expression of the human interleukin-2 (IL-2) receptor alpha (IL2RA, or CD25) protein are restricted to particular immune cell types and correlate with several haplotypes in the IL2RA region that have previously been associated with two autoimmune diseases, type 1 diabetes (T1D) and multiple sclerosis2–4. 19701192 Details
Variants Homo sapiens MS IL2RA Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource Here we use polychromatic flow cytometry to show that differences in surface expression of the human interleukin-2 (IL-2) receptor alpha (IL2RA, or CD25) protein are restricted to particular immune cell types and correlate with several haplotypes in the IL2RA region that have previously been associated with two autoimmune diseases, type 1 diabetes (T1D) and multiple sclerosis2–4. 19701192 Details
Variants Homo sapiens MS TRIM5 The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1 We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. 21311761 Details
Variants Homo sapiens MS HERV-Fc1 The etiology of multiple sclerosis: genetic evidence for the involvement of the human endogenous retrovirus HERV-Fc1 We conclude that HERV-Fc1 and TRIM5 play a role in the etiology of multiple sclerosis. 21311761 Details
Variants Homo sapiens MS FAS [The association of the FAS/APO-1 (rs2234767) gene polymorphism with the risk and rapid progression of multiple sclerosis] The G/А genotype and the А-allele were associated with the increased risk of multiple sclerosis. 28617356 Details
Variants Homo sapiens MS DDT Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way Te results show that the minor allele frequency of rs755622 and expression of DDT are signifcantly increased in males for MS subjects and this minor allele variant can signifcantly upregulate DDT expression for males but not females, which suggests that the regulation of DDT expression level by rs755622 can afect MS progression in males. 30140701 Details
Variants Homo sapiens MS CBLB Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis A genome-wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 × 1010,OR = 1.40). 20453840 Details
Variants Homo sapiens MS HLA-DRB1 A multigenerational family with multiple sclerosis A transmission disequilibrium test analysis was significant for the DRB1*15 allele within this single family. 12076998 Details
Variants Homo sapiens MS IL4 Occurrence and clinical relevance of an interleukin-4 gene polymorphism in patients with multiple sclerosis Our results show that the IL-4 B1 allele is associated with late onset of MS and therefore might represent a modifier of age of onset rather than a susceptibility factor for patients with MS. 9184650 Details
Variants Homo sapiens MS TRB Multiple sclerosis susceptibility: population and twin study of polymorphisms in the T-cell receptor beta and gamma genes region.French Group on Multiple Sclerosis However one Vβl I , 25 kb allele and a haplotype defined by Vβl I and Cβ alleles showed a correlation with MS susceptibility of borderline significance. 8105988 Details
Variants Homo sapiens MS TRB Multiple sclerosis susceptibility: population and twin study of polymorphisms in the T-cell receptor beta and gamma genes region.French Group on Multiple Sclerosis However one Vβl I , 25 kb allele and a haplotype defined by Vβl I and Cβ alleles showed a correlation with MS susceptibility of borderline significance. 8105988 Details
Variants Homo sapiens MS TRB Multiple sclerosis susceptibility: population and twin study of polymorphisms in the T-cell receptor beta and gamma genes region.French Group on Multiple Sclerosis However one Vβl I , 25 kb allele and a haplotype defined by Vβl I and Cβ alleles showed a correlation with MS susceptibility of borderline significance. 8105988 Details
Variants Homo sapiens MS HLA-A Multiple sclerosis and high incidence of a B lymphocyte antigen Therefore, the HLA-D locus is probably closely related to the locus that deter- mines the group 4 antigen. In contrast,HLA-B7 is almost completely included in the group 4 antigen among MS patients, but not among the normal population. 1085490 Details
Variants Homo sapiens MS HLA-B Multiple sclerosis and high incidence of a B lymphocyte antigen Therefore, the HLA-D locus is probably closely related to the locus that deter- mines the group 4 antigen. In contrast,HLA-B7 is almost completely included in the group 4 antigen among MS patients, but not among the normal population. 1085490 Details
Variants Homo sapiens MS IL10 Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12101075 Details
Variants Homo sapiens MS IL10 Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12101075 Details
Variants Homo sapiens MS IL10 Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression IL-10G12 allele was significantly increased in MS patients 12101075 Details
Variants Homo sapiens MS IL10 Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression No other allele showed a significant difference between patients and controls, and the TDT analysis yielded negative results. 12101075 Details
Variants Homo sapiens MS HAVCR2 TIM-3 Rs10515746 (A/C) and Rs10053538 (C/A) Gene Polymorphisms and Risk of Multiple Sclerosis In this case-control study, analysis of the alleles and genotypes revealed a significant higher frequency of C/C and lower frequency of A/C genotypes for -574 locus of TIM-3 gene in MS patients. Allele C of -574C/C was also more frequent in MS patients. 27398337 Details
Variants Homo sapiens MS HAVCR2 TIM-3 Rs10515746 (A/C) and Rs10053538 (C/A) Gene Polymorphisms and Risk of Multiple Sclerosis We also found that C/C genotype for locus of -1516 increased in MS patients, while A/C genotype decreased.-1516 C>A SNP was also more frequent in MS patients. 27398337 Details
Variants Homo sapiens MS IL21 Investigation of IL-21 gene polymorphisms (rs2221903, rs2055979) in cases with multiple sclerosis of Azerbaijan, Northwest Iran Our results showed that the IL-21 rs2221903 SNP is not polymorphic in our population. 26155434 Details
Variants Homo sapiens MS IL21 Investigation of IL-21 gene polymorphisms (rs2221903, rs2055979) in cases with multiple sclerosis of Azerbaijan, Northwest Iran The allelic and genotypic frequencies of the IL-21 rs2055979 did not differ significantly between the MS patients and controls. 26155434 Details
Variants Homo sapiens MS IL21 Investigation of IL-21 gene polymorphisms (rs2221903, rs2055979) in cases with multiple sclerosis of Azerbaijan, Northwest Iran Our results showed that IL-21 rs2055979 (G/T) T allele positive (TT+GT) MS patients had lower disease progression compared to rs2055979 T allele negative (GG) patients. 26155434 Details
Variants Homo sapiens MS IL16 RETRACTED ARTICLE: The Association of Interleukin-16 Gene Polymorphisms with IL-16 Serum Levels and Risk of Multiple Sclerosis The IL-16 rs4072111C/T genotype and allele frequencies showed significantly differences between MS patients and controls.The genotype frequencies of the rs4072111C/T were 62% CC, 30.8% CT, and 7.2% TT in MS patients and were 79% CC, 18% CT, and 3% TT in the control groups.Allele frequencies of C and T alleles were 77.4% and 22.6% for MS patients, and 88% and 12% for control subjects, respectively. 28151028 Details
Variants Homo sapiens MS IL16 RETRACTED ARTICLE: The Association of Interleukin-16 Gene Polymorphisms with IL-16 Serum Levels and Risk of Multiple Sclerosis Statistically significant differences were also found in allele and genotype frequencies of rs11556218 G/T between two groups.In MS patients, the genotype frequencies of rs11556218T/G were 32.8% for TT, 59.2% for TG, and 8% for GG and were 54% for TT, 42% for TG, and 4% for GG in healthy controls.Allele frequencies of T and G alleles were 62.4% and 37.6% for MS patients, and 75% and 25% for control subjects, respectively. 28151028 Details
Variants Homo sapiens MS NINJ2 Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis The distribution of rs7298096 SNP was significantly different in the responders and non-responder patients and the NINJ2 gene expression considerably increased in the non-responder patients compare to the responders.The NINJ2 gene expression level in the AA genotype of the non-responder group was higher than to the other genotypes of both groups. 35912872 Details
Variants Homo sapiens MS SLC6A4 Polymorphisms of serotonin transporter gene and psychological status in patients with multiple sclerosis The frequencies of alleles, genotypes, genotype combinations, and haplotypes did not differ significantly between patients with MS and healthy controls. 30886676 Details
Variants Homo sapiens MS IL7R Assessment of IL-7RA T244I Polymorphism as a Risk Factor of Multiple Sclerosis in Turkish Population In our study, there were no significant differences in genotype frequencies in the IL-7RA rs6897932 polymorphism and no significant difference between C and T alleles in patients with MS and controls. 33354118 Details
Variants Homo sapiens MS IL25 The Association Between C424c/A Polymorphism Within the IL-25 Gene and Multiple Sclerosis The results showed that there was no statistical significant difference in distribution of genotype (AA, AC and CC) and allele (A and C) frequencies between MS patients and healthy controls . 28144453 Details
Variants Homo sapiens MS POLG The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis In both patients and controls, there was a strong predominance of the allele 10Q.We did not find a statistically significant difference between the two studied groups.The frequency of the common POLG variant among the MS patients was 92.5%, which was similar to the control group.CAG repeat lengths ranging from 10–12 were detected, but not larger, expanded repeats were found in the control subjects and MS patients. 25767537 Details
Variants Homo sapiens MS MMP9 Association Study between Functional Polymorphisms of MMP9 Gene Promoter and Multiple Sclerosis Susceptibility in an Iranian Population A significant upper difference was observed in allele frequencies between MS patients compared to healthy volunteers in 1562C/T MMP-9 gene polymorphism. Additionally, frequency distribution of MMP-9 genotypes has a significant relationship with MS disease;in such a way that CC+CT genotype opposed to TT showed a significant association with MS. 31700826 Details
Variants Homo sapiens MS TBX21 The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis Strong association between the wild -1514T allele and MS susceptibility was found with the allelic frequency of 99.6% in patients vs. 95.1% in controls, and the CC genotype frequency of the TBX21 polymorphism (-1514T > C) reported potential protective effect against the disease. 30886677 Details
Variants Homo sapiens MS CD6 CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population In this study, the most significant association was seen with rs17824933. 27994359 Details
Variants Homo sapiens MS TMEM39A CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population A modest association was also noted for TMEM39A rs1132200. 27994359 Details
Variants Homo sapiens MS IL2RA CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population A modest association was also noted for IL2RA rs2104286. 27994359 Details
Variants Homo sapiens MS IL7R Association of interleukin 7 receptor gene polymorphism rs6897932 with multiple sclerosis patients in Khuzestan Results show that rs6897932 is significantly different in and controls, while compared genotypes based on gender has shown different results.Although T/T genotype has not seen in men suffering MS, it is 4 (3.6%) in the control group. 25422737 Details
Variants Homo sapiens MS IL10 IL-10 Gene Polymorphisms and IL-10 Serum Levels in Patients with Multiple Sclerosis in Lithuania The IL-10 rs1800871, rs1800872, and rs1800896 genotype and allele frequencies did not significantly differ between the MS and control groups. 35741685 Details
Variants Homo sapiens MS NOS3 Molecular Analysis of rs2070744 and rs1799983 Polymorphisms of NOS3 Gene in Iranian Patients With Multiple Sclerosis Statistical analysis showed that c.-813C>T polymorphism is associated with risk of MS.The prevalence of C allele was significantly higher in patients compared to the control group . 29158878 Details
Variants Homo sapiens MS NOS3 Molecular Analysis of rs2070744 and rs1799983 Polymorphisms of NOS3 Gene in Iranian Patients With Multiple Sclerosis Statistical analysis showed that according to co-dominant model, c.894G>T polymorphism is associated with risk of MS.The prevalence of T allele was significantly higher in patients compared to the control group. 29158878 Details
Variants Homo sapiens MS FOXP3 FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548 in the MS patients, compared with controls. 33806248 Details
Variants Homo sapiens MS GATA3 FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis No statistically significant genotypic and allelic differences were found in the distribution of GATA3 rs3824662 in the MS patients, compared with controls. 33806248 Details
Variants Homo sapiens MS PDCD1 The association between PD-1 gene polymorphisms and susceptibility to multiple sclerosis The frequency difference of PD-1.1 genotypes and alleles (-536 G/A) between patients and healthy controls was not significant. 36308011 Details
Variants Homo sapiens MS PDCD1 The association between PD-1 gene polymorphisms and susceptibility to multiple sclerosis Regarding PD-1.3, the AA + AG genotype was found to be relatively higher in the control group. 36308011 Details
Variants Homo sapiens MS PDCD1 The association between PD-1 gene polymorphisms and susceptibility to multiple sclerosis Concerning PD-1.5 (+7785 C/T), the frequency of T allele carriers (TT + CT) was relatively higher in MS patients, which was marginally insignificant . 36308011 Details
Variants Homo sapiens MS AQP4 No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis This study showed no significant association of common AQP4 SNPs with MS, strongly suggesting that polymorphisms of AQP4 gene are unlikely to confer MS susceptibility, at least in Northern Han Chinese population. 28123825 Details
Variants Homo sapiens MS CCR5 CCR5Δ32 Polymorphism Associated with a Slower Rate Disease Progression in a Cohort of RR-MS Sicilian Patients The frequencies of CCR5Δ32 alleles in patients with MS did not differ significantly from those of controls and were not influenced by gender. We did not observed any significant association between CCR5Δ32 allele and age onset. 22096627 Details
Variants Homo sapiens MS IL1A Relapsing-remitting multiple sclerosis: A profile of interleukine-1 gene cluster polymorphisms in Iraqi patients No association was found with IL1A-889 variants. 32590124 Details
Variants Homo sapiens MS IL1B Relapsing-remitting multiple sclerosis: A profile of interleukine-1 gene cluster polymorphisms in Iraqi patients Under dominant model, IL1B511 CT + TT genotype was significantly associated with a decreased MS risk.Frequencies of IL1B511 T variant alleles were significantly decreased in MS patients compared to control. 32590124 Details
Variants Homo sapiens MS IL1B Relapsing-remitting multiple sclerosis: A profile of interleukine-1 gene cluster polymorphisms in Iraqi patients No association was found with IL1B+3962 variants. 32590124 Details
Variants Homo sapiens MS IL1R1 Relapsing-remitting multiple sclerosis: A profile of interleukine-1 gene cluster polymorphisms in Iraqi patients Under dominant model, IL1R1pst1970CT + TT genotype was significantly associated with a decreased MS risk.IL1R1pst1 1970 T variant alleles were significantly decreased in MS patients compared to control. 32590124 Details
Variants Homo sapiens MS IL1RN Relapsing-remitting multiple sclerosis: A profile of interleukine-1 gene cluster polymorphisms in Iraqi patients Under dominant model, IL1RNmspa1 11,100 TC + CC genotype was significantly associated with a decreased MS risk.The heterozygous genotype TC of the variant was also associated with a significant decreased MS risk but under codominant model.Frequencies of IL1RNmspa1 11,100C variant alleles were significantly decreased in MS patients compared to control. 32590124 Details
Variants Homo sapiens MS FOXP3 Genetic Susceptibility to Multiple Sclerosis: The Role of FOXP3 Gene Polymorphism When the allele frequencies found in MS patients and healthy controls were compared, no significant difference of distribution was observed between the two groups. 28360598 Details
Variants Homo sapiens MS VDR Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis Distribution of Fok-I polymorphisms in the MS and control groups differ significantly in dominant, heterozygote, and homozygote inheritance models.There were significant differences of Fok-I polymorphism allele frequencies across MS/MS subtype group and the control group. 36880035 Details
Variants Homo sapiens MS VDR Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis There was no significant difference in Bsm-I polymorphism genotype distribution across MS/MS subtype group and the control group in any inheritance models. 36880035 Details
Variants Homo sapiens MS VDR Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis Distribution of Taq-I polymorphisms in the MS and control groups differ significantly in dominant, heterozygote, and homozygote inheritance models.There were significant differences of Taq-I polymorphism allele frequencies across MS/MS subtype group and the control group. 36880035 Details
Variants Homo sapiens MS FCRL5 Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population The CC genotype of rs2012199 has been identified only in individuals with MS.The CC and CT genotypes, as well as the C allele of rs2012199, were significantly more common in the MS subjects.We noted that decreased MS susceptibility was associated with the T allele rs2012199. 33889124 Details
Variants Homo sapiens MS FCRL5 Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population Similar results were obtained for the genotypes and alleles of rs6679793.The OR of MS in subjects with the AG genotype was equal to 0.28 and 0.23 in subjects with the GG genotype.Allele A was significantly more common in MS subjects.The OR of MS was significantly lower in the G allele group.We noted that decreased MS susceptibility was associated with the G allele rs6679793. 33889124 Details
Variants Homo sapiens MS IL7R Association study of four polymorphisms in the interleukin-7 receptor alpha gene with multiple sclerosis in Eastern Iran Significant association was gained while the subtype stratification was applied on genotype level: relapsing-remitting (RRMS) in SNP rs7718919.Based on gender Allelic frequency of SNP rs7718919 in the males which are affected by MS showed a significant association to disease. 26221483 Details
Variants Homo sapiens MS IL7R Association study of four polymorphisms in the interleukin-7 receptor alpha gene with multiple sclerosis in Eastern Iran Significant association was gained while the subtype stratification was applied on genotype level: for secondary-progressive multiple sclerosis (SPMS) in SNP rs11567685.Also allelic frequency of rs11567685 SNP showed a significant association for SPMS patients.Allelic analysis in the female group showed significant results for SPMS in SNP rs11567685 also this association was gained in the genotypic level of RR MS patients in the case of SNP rs11567685. 26221483 Details
Variants Homo sapiens MS IL7R Association study of four polymorphisms in the interleukin-7 receptor alpha gene with multiple sclerosis in Eastern Iran Genotyping of SNP rs6897932 in SPMS of the male group demonstrated a significant statistical difference between cases. 26221483 Details
Variants Homo sapiens MS HSPA1A Heat Shock Protein 70 and The Risk of Multiple Sclerosis in The Iranian Population Genotypic frequencies of HSP70 gene pointed to a non-significant association between polymorphism (AA/AG/GG) were observed at 0, genotype and presence of RRMS.We found no significant difference between RRMS patients and controls in the Iranian population based on the HSP70 variant. 30124009 Details
Variants Homo sapiens MS IL7 Genetic association of rs1520333 G/A polymorphism in the IL7 gene with multiple sclerosis susceptibility in Isfahan population The frequency of the C allele in cases was more than that in the healthy control group.A notable association of the allele G and the GG genotype of rs1520333 SNP was detected with higher MS risk.For other genotypes of the rs1520333 polymorphism, results were not significantly associated with the risk for MS in the population under study. 25538924 Details
Variants Homo sapiens MS AIRE Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population Results showed that AIRE SNP rs1800520 was significantly less common in the MS patients than in healthy controls. Also, the frequency of allele G was significantly higher among the control group than in the case group. 29849988 Details
Variants Homo sapiens MS MMP9 Matrix metalloproteinase-9 -1562 C/T gene polymorphism in Serbian patients with multiple sclerosis In the patients group overall, genotype and allele frequency distributions were not significantly different between patients and controls. We found a significant decrease in T allele carrier frequency in female patients with MS compared to healthy female controls, which remained significant after correction for multiple testing. 17655938 Details
Variants Homo sapiens MS MMP9 Matrix metalloproteinase-9 and matrix metalloproteinase-2 gene polymorphisms in multiple sclerosis A significant decrease of the -1562T allele carriers in MS patients compared to controls in -1562C/T MMP-9 gene polymorphism was found.Significant differences were also demonstrated between female patients and healthy females. 18835646 Details
Variants Homo sapiens MS CD226 CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese The frequency of T allele and TT genotype were also not increased in MS patients compare to the controls. 22728856 Details
Variants Homo sapiens MS DNMT3B DNMT3B-579G>T (rs1569686G>T) polymorphism and the risk of multiple sclerosis in a subset of Iranian population There was no statistically significant association between DNMT3B-579G>T and susceptibility to MS. The alleles and genotypes of DNMT3B-579G>T did not have different risks of MS development under various models. 31565203 Details
Variants Homo sapiens MS TNF Tumor necrosis factor-alpha polymorphism and susceptibility to multiple sclerosis in the Iranian population The frequencies of TNF-α*11 and TNF-α*10 alleles increased in patients with MS compared with controls, showing a significant difference among the studied population. 25763268 Details
Variants Homo sapiens MS HFE Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis The results of the meta-analysis did not show a significant association between HFE polymorphisms and susceptibility to MS in any of the genetic comparison models . 34987796 Details
Variants Homo sapiens MS HFE Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis The results of the meta-analysis did not show a significant association between HFE polymorphisms and susceptibility to MS in any of the genetic comparison models . 34987796 Details
Variants Homo sapiens MS HLA-DRB1 Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis We detected a significant linkage/association between MS and the HLA -DRB1 *15. 22649676 Details
Variants Homo sapiens MS MMP9 Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis We detected a significant linkage/association between MS and MMP9 *(–1562)С alleles. 22649676 Details
Variants Homo sapiens MS IFNG Interferon-gamma gene polymorphism in Iranian patients with multiple sclerosis There is no association between IFN- gamma +874 polymorphism and MS susceptibility or severity of the disease. 17301401 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1: genetic susceptibility and disability progression in a Spanish multiple sclerosis population The HLA-DRB1*15 allele in patients with MS had a statistically significant higher frequency when compared with controls.In the univariate analysis, the DRB1*01 and DRB1*04 alleles were associated with a worse prognosis , whereas the DRB1*03 was correlated with a better outcome.In the multivariate analysis, the alleles*01 and *04 were demonstrated to be independent factors to have a worse prognosis. 20629714 Details
Variants Homo sapiens MS IL10 Combination of interleukin-10 gene promoter polymorphisms with HLA-DRB1*15 allele is associated with multiple sclerosis It was found that IL-10 1082 G/G genotype was associated with higher risk of MS in Iranian population, while G/A and A/A genotypes reduced the risk of the disease and 819 CC genotype was also associated with higher risk of developing MS. 29067976 Details
Variants Homo sapiens MS HLA-DRB1 Combination of interleukin-10 gene promoter polymorphisms with HLA-DRB1*15 allele is associated with multiple sclerosis DRB1*15 allele showed a higher frequency among MS patients as compared with control subjects. 29067976 Details
Variants Homo sapiens MS APOE Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis Both the global and haplotype-specific multilocus results indicated that the 21112 haplotype of markers APOE, snp952, snp873, snp888, and snp988 was associated with increased MS susceptibility.APOE-4 carriers are more likely to be affected with severe disease , whereas a higher proportion of APOE-2 carriers exhibit a mild disease course .No significant effect of APOE genotypes on rate of progression to disability was detected. 11836653 Details
Variants Homo sapiens MS PTPRC A point mutation in PTPRC is associated with the development of multiple sclerosis The altered CD45 expression phenotype is associated with MS,in almost all cases, the altered expression is caused by a heterozygous C→G transition in PTPRC. 11101853 Details
Variants Homo sapiens MS IFNG Polymorphism in the third intron of the interferonγ gene is associated with susceptibility to multiple sclerosis The frequency of the A allele at the IFN-γ +2118 site was increased in the MS group as compared with the control group.However, no significant difference was observed between the MS and control groups in genotype distribution and allele frequency at the IFN-γ +3586 site.Thus, polymorphisms at the +2118 A/G site in the IFN-γ intron III gene may be associated with susceptibility to multiple sclerosis. 28218775 Details
Variants Homo sapiens MS IKZF3 Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood The transcript of the haplotype containing the MS risk allele at rs907091 in IKZF3, showed consistently higher expression level in all MS samples.Consistent allelic imbalance is observed for rs907091 in IKZF3. The studied SNP in IKZF3 is located in a cis-regulatory element, or that these SNPs mark a functional cis-regulatory element that impacts the per-allele transcript abundance in whole blood, independent of disease status. 27080863 Details
Variants Homo sapiens MS CD69 Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood There is no consistent cis-regulatory mechanism for CD69 associated with this SNP. 27080863 Details
Variants Homo sapiens MS IQGAP1 Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood The transcript of the haplotype containing the MS risk allele at rs11609 in IQGAP1 was higher in the majority of MS samples.Consistent allelic imbalance is observed for rs11609 in IQGAP1.The studied SNP IQGAP1 is located in a cis-regulatory element, or that these SNPs mark a functional cis-regulatory element that impacts the per-allele transcript abundance in whole blood, independent of disease status. Given this observation, a relative higher expression of IQGAP1 for carriers of the minor allele might contribute to an increase in MS susceptibility. 27080863 Details
Variants Homo sapiens MS IL18 The association of IL-18 gene promoter polymorphisms and the levels of serum IL-18 on the risk of multiple sclerosis IL-18 -607AA genotype indicated 6 times higher risk in the development of MS . Smoking seems to be an important confounding factor in MS patients with carrying IL-18 -607 AA and CA+AA genotypes. However, no meaningful association was found with IL-18 -137C/G gene promoter polymorphism. 27177146 Details
Variants Homo sapiens MS IL32 Association between interleukin-32 polymorphism and multiple sclerosis The presence of C allele might impact the risk of disease susceptibility up to 1.6 fold. Harboring CC genotype significantly increased IL-32 levels in both groups .ANOVA revealed a significance difference between age at disease onset and IL-32 T/C genotypes .Tukey’s Post Hoc test was shown a significant decreased in age at disease onset in CC genotype compared to CT genotype. C allele carriage patients were significantly younger than the T allele carrier patients .Comparison of MS symptoms in wild IL-32 genotype carriages with mutant C allele harboring subjects revealed no significant difference. 28716229 Details
Variants Homo sapiens MS IL2 Analysis of -631 and -475 interleukin-2 promoter single nucleotide polymorphisms in multiple sclerosis We have found a low frequency of both SNPs and no differences between MS patient and control groups, it appears that these polymorphisms have no significant influence in MS susceptibility. 12358847 Details
Variants Homo sapiens MS MIF Lack of association between MIF gene -173G>C polymorphism with multiple sclerosis There was no statistically significant difference in allele and genotype frequencies between MS-patients and controls .No association was observed when the patients were compared against controls in terms of GG versus GC+CC genotypes and GG+GC versus CC genotypes . 25600533 Details
Variants Homo sapiens MS FAS An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis We found no evidence that the polymorphism contributes to susceptibility to MS. Furthermore, there was no association between Apo-1/Fas gene polymorphisms and clinical course .No significant association was observed between Apo-1/Fas gene polymorphisms and the age at disease onset. 12188927 Details
Variants Homo sapiens MS HLA-DRB1 HLA alleles modulate EBV viral load in multiple sclerosis The relationship between HLA alleles and viral parameters was exclusively seen in MS patient.MS patients carrying the HLA-DRB1*15 allele (HLA-DRB1*15+) (N = 42/117) had higher EBV viral load than those not carrying this allele (HLA-DRB1*15) .The highest EBV viral load was detected in HLA-B*07+/HLA-DRB1*15+/HLA-A*02 (least favorable HLA combination) patients;the 25 HLA-B*07/HLA-DRB1*15/HLA-A*A02+ patients were characterized by the lowest EBV viral load. 29587799 Details
Variants Homo sapiens MS HLA-A HLA alleles modulate EBV viral load in multiple sclerosis The relationship between HLA alleles and viral parameters was exclusively seen in MS patient.A significantly lower EBV viral load was observed in MS patients expressing the HLA-A*02 antigen (HLA-A*02+) , which is suggested to be a protective factor in MS, compared to those without the allele (HLA-A*02).The highest EBV viral load was detected in HLA-B*07+/HLA-DRB1*15+/HLA-A*02 (least favorable HLA combination) patients;the 25 HLA-B*07/HLA-DRB1*15/HLA-A*A02+ patients were characterized by the lowest EBV viral load. 29587799 Details
Variants Homo sapiens MS HLA-B HLA alleles modulate EBV viral load in multiple sclerosis The relationship between HLA alleles and viral parameters was exclusively seen in MS patient.A significantly higher EBV viral load could be detected in MS subjects carrying the HLA-B*07 allele (HLA-B*07+)compared to those not carrying this allele (HLA-B*07).The highest EBV viral load was detected in HLA-B*07+/HLA-DRB1*15+/HLA-A*02 (least favorable HLA combination) patients;the 25 HLA-B*07/HLA-DRB1*15/HLA-A*A02+ patients were characterized by the lowest EBV viral load. 29587799 Details
Variants Homo sapiens MS NOS2 Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis A significant increase in frequency of the less common NOS2A exon10 SNP-T allele was observed. 15174013 Details
Variants Homo sapiens MS NOS2 Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis Significant PDT results were maintained for the NOS2A exon 10 C/T SNP in single-case families only and were strongest in HLA-DR2–positive families .Although there was no evidence for association with any chromosome 17q11 markers or haplotypes in the multicase families modest evidence for linkage was observed for the NOS2A (CCTTT)n promoter polymorphism and was also restricted to families in which all patients carried at least one HLA-DR2 allele.Associations between the NOS2A polymorphisms were evaluated in a sample of 232 unrelated white controls.There was significant evidence for strong LD between each pair of the (CCTTT)n, (TAAA)n, exon 10 C/T (D346D), and exon 16 C/T (S569L) polymorphisms within NOS2A. 15174013 Details
Variants Homo sapiens MS CTLA4 CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis We found no association between carriership of any of the alleles either with susceptibility to MS or with clinical features and the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease. 12864988 Details
Variants Homo sapiens MS CD28 CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis We found no association between carriership of any of the alleles either with susceptibility to MS or with clinical features and the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease. 12864988 Details
Variants Homo sapiens MS HLA-DRB1 The HLA locus and multiple sclerosis in Sicily Evidence for excess transmission to affected individuals was observed for HLA-DRB1*1501, DRB1*04, DQB1*02, and DQB1*0302 alleles, but not for DQB1*0602 using PDT or TRANSMIT.When HLA alleles were analyzed as haplotypes, we observed an excess transmission for the DRB1*0400, DQB1*0302 haplotype. The DR2 haplotype (DRB1*1501, DQB1*0602) was borderline significant. DRB1*1501, X and DRB1*04, X haplotypes were also examined, where X was not DQB1*0602 or *0302.Both haplotypes displayed suggestive evidence for over-transmission, providing additional support for a primary DRB1 effect. However, these results were not significant. The DR3 haplotype was negative. As observed in other populations,HLA-DR3 confers low relative risk.The effect of HLA on age at onset, initial symptom, disease course, and endpoints of clinical severity was evaluated in patients stratified by the presence or absence of DRB1*1501 or DRB1*04. No significant effect of DRB1 was present. 15668443 Details
Variants Homo sapiens MS VDR Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group At the VDR locus, TDT analysis of the ApaI and TaqI polymorphisms did not show preferential transmission of any allele to affected offspring . 10680811 Details
Variants Homo sapiens MS DBP Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group Within the DBP gene, TDT analysis of the HaeIII and StyI genotypes showed no preferential transmission of any allele to affected offspring. 10680811 Details
Variants Homo sapiens MS CYP27A1 Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group At the 1a hydroxylase locus, three nearby microsatellite markers (D12S90, D12S355, and D12S83) were analyzed. A TDT analysis of the four most common alleles for each marker showed a slight difference in transmission for allele 10 of marker D12S355. All other alleles for D12S355 and all alleles of markers D12S85, D12S90, and D12S83 showed no deviation in transmission. We found no evidence for linkage or association of this gene with MS in the Canadian population. 10680811 Details
Variants Homo sapiens MS HLA-DRB1 Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients We observed a trend for association of rs3135388 (HLA-DRB1*1501)with a younger age at MS onset and have remained significant when being over conservative and adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS DIPK1A Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients have remained significant when being over conservative and adjusting for multiple testing 22411505 Details
Variants Homo sapiens MS CLEC16A Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients have remained significant when being over conservative and adjusting for multiple testing 22411505 Details
Variants Homo sapiens MS IL7R Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS IL2RA Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients We observed a trend for association of rs7090530 (IL2RA) with a younger age at MS onset.The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS RPL5 Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS KANK1 Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients The opposite A allele was associated with the risk of MS in our population.The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS MBOAT2 Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS TBC1D2 Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients The additional non-MHC loci showing association without adjusting for multiple testing. 22411505 Details
Variants Homo sapiens MS HLA-DRB1 Spinal cord involvement in multiple sclerosis: a correlative MRI and high-resolution HLA-DRB1 genotyping study DRB1*1501 is associated with diffuse lesions.DRB1*1501 homozygosity was significantly more likely in cases with diffuse lesions than non-carriage of DRB1*1501 or DRB1*1501 heterozygosity and the proportion of cases with diffuse lesions was higher amongst heterozygous DRB1*1501 carriers.Among those with focal lesions carriage of DRB1*1104 was associated with higher total numbers of lesions.In multivariable analysis DRB1*0701 and DRB1*1104mwere independently associated with higher total lesion numbers compared with carriage of other alleles.DRB1*1501 and DRB1*1101 were significantly associated with greater lesion length.When combined to the 2 digit DRB1*11, there was a significant association between this allele group and lesion length .DRB1*0102,DRB1*0103 and DRB1*1104 were separately associated with numbers of thoracic cord lesions,DRB1*0103 with reduced numbers and the other alleles with increased numbers. DRB1*1104 was positively associated with thoracic cord lesion numbers and DRB1*0103 negatively correlated. 20884011 Details
Variants Homo sapiens MS C4A C4AQ0 and HLA-DR2, risk factors in multiple sclerosis On excess of C4AQ0 homozygosity was observed in MS patients compared to controls.This gene may favour the occurrence of MS and accelerate the evolution and severity of the disease. 2089531 Details
Variants Homo sapiens MS NFKBIA Inhibitor IκBα promoter functional polymorphisms in patients with multiple sclerosis The genotype frequencies of IκBα-881A/G and allele frequencies of IκBα-881G were significantly higher in patients with MS with respect to as compared to the controls. 24368589 Details
Variants Homo sapiens MS NFKBIA Inhibitor IκBα promoter functional polymorphisms in patients with multiple sclerosis The genotype frequencies of IκBα-826T/T was significantly higher in patients with MS with respect to as compared to the controls. 24368589 Details
Variants Homo sapiens MS NFKBIA Inhibitor IκBα promoter functional polymorphisms in patients with multiple sclerosis The differences of genotype frequencies of IKBa -519 C/T between the patients with multiple sclerosis and the controls were not significant. 24368589 Details
Variants Homo sapiens MS IL6 High-resolution analysis of IL-6 minisatellite polymorphism in Sardinian multiple sclerosis: effect on course and onset of disease None of these were associated with in globo susceptibility to MS. 11196678 Details
Variants Homo sapiens MS IL6 High-resolution analysis of IL-6 minisatellite polymorphism in Sardinian multiple sclerosis: effect on course and onset of disease Analysis of clinically different groups showed that the A5 allele was associated with a benign but not with a malignant course of disease.In particular, the frequency of the A5/A5 genotype was significantly higher in patients with benign MS.In addition, carriage of any of the larger alleles (A6->A9) was associated with accelerated onset of disease. 11196678 Details
Variants Homo sapiens MS TRBV20OR9-2 Susceptibility for multiple sclerosis is determined, in part, by inheritance of a 175-kb region of the TcR V beta chain locus and HLA class II genes Genotypes in the normal populations were compared to those in the MS population .The genotype frequencies were not significantly different between the MS and control populations at positions 1-4 and 6 (Vβ7/BamHI and Vβ15/MSP 1 markers, Vβ1/TaqI and Vβ8/MSP 1 markers ,Vβ8/BamHI.) However, at marker 5 defined by the Vβ11/BarnHI RFLP, the genotype frequencies were significantly different between the MS and control populations.These subhaplotype frequency distributions were not significantly different among the control populations.The subhaplotype frequency distributions spanning the markers * 4 and * 5 were found to be significantly different between the MS and control population . 8101191 Details
Variants Homo sapiens MS TRBV20OR9-2 Susceptibility for multiple sclerosis is determined, in part, by inheritance of a 175-kb region of the TcR V beta chain locus and HLA class II genes The Vβ8/BamHI-Vβ11/BamHI subhaplotype frequencies differed significantly only in the HLA-DR2 + MS patients but not in the HLA-DR2- MS patients. 8101191 Details
Variants Homo sapiens MS TNF Susceptibility to multiple sclerosis mediated by HLA-DRB1 is influenced by a second gene telomeric of the TNF cluster None of these microsatellite combinations or any others showed any association with disease. 10626741 Details
Variants Homo sapiens MS DBP Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis No association was found in blacks regardless of genotype. 29414925 Details
Variants Homo sapiens MS DBP Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis No association was found in Hispanics regardless of genotype. 29414925 Details
Variants Homo sapiens MS DBP Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis In models stratified by race/ethnicity, higher serum 25OHD levels were strongly associated with a lower risk of MS/CIS in whites who carried at least one copy of the C allele at rs7041 but not in those homozygous for the A allele. 29414925 Details
Variants Homo sapiens MS ERG Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation The rate of PP and Pp genotype and the [P] allele frequency were significantly higher in MS patients than in controls, both in the total study population and in female subjects. 12098513 Details
Variants Homo sapiens MS ERG Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation The genotype and allele frequencies of Xba polymorphism were similar in MS patients and controls. 12098513 Details
Variants Homo sapiens MS CD24 Investigation of CD24 and its expression in Iranian relapsing-remitting multiple sclerosis A comparison of genotype frequencies between MS patients and controls indicates that the CD24v/v genotype was significantly more frequent in MS patients than in controls.The results showed a significant difference in the MSSS of the three different genotypes.These data suggest that the CD24v/v genotype may influence both disease susceptibility and severity in Iranian MS patients. 21815873 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1*15:01 and multiple sclerosis: a female association? Our data confirms that the *15:01 haplotype confers a higher risk of suffering from MS. Sex confers a much stronger modulation and the *15:01-MS association seems to be female specific. 22127897 Details
Variants Homo sapiens MS VDR HLA-DRB1*15:01 and multiple sclerosis: a female association? No association was found between VDR variants and MS, but they were shown to moderately modulate the risk conferred by *15:01. 22127897 Details
Variants Homo sapiens MS STK11 A single-nucleotide polymorphism in serine-threonine kinase 11, the gene encoding liver kinase B1, is a risk factor for multiple sclerosis The STK11-SNP has increased frequency in all female patients versus controls. 25694554 Details
Variants Homo sapiens MS APOE APOE genotypes and disease severity in multiple sclerosis In accordance with our previously reported preliminary results,31 however, the e3/e4 genotype was more common in severe MS than in benign MS, and severe-MS patients were more often carriers of the e4 allele than benign-MS patients.At the same time, homozygosity for e4 was more common in benign MS than severe MS. 11990879 Details
Variants Homo sapiens MS IL27 IL27 T4730C Polymorphism and Serology in Multiple Sclerosis: A Pilot Study Carriers of the T4730С polymorphism were found to have a 6-fold increased risk for MS. Univariate logistic regression analysis showed an increased frequency of the TC4730 heterozygous genotype and also of the C4730 allele in patients compared to controls, with a 6.02-fold increased risk and a 4.31-fold increased risk of developing MS. 34410977 Details
Variants Homo sapiens MS HLA-DRB1 The importance of HLA DRB1 gene allele to clinical features and disability in patients with multiple sclerosis in Lithuania HLA DRB1*15 allele was related with an earlier manifestation of the first MS symptoms, progressive course of the disease and higher degree of disability. HLA DRB1*08 allele was more prevalent among the RR MS patients and was associated with the lower rate of relapse, degree of disability and IgG index. 23837503 Details
Variants Homo sapiens MS HLA-DPA1 HLA-DP antigens are involved in the susceptibility to multiple sclerosis HLA-DPw4 was found in 93.3% of MS patients compared to 72.3% of controls.DPw4 seems to confer susceptibility to MS independently . 3400089 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DP antigens are involved in the susceptibility to multiple sclerosis DR2 was found in 75.5% of MS patients compared to 33.7% of controls.DR2 seems to confer susceptibility to MS independently . 3400089 Details
Variants Homo sapiens MS VDR Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis VDR genotypes were not associated with MS risk. 20007432 Details
Variants Homo sapiens MS LILRA3 6.7-kbp deletion in LILRA3 (ILT6) gene is associated with later onset of the multiple sclerosis in a Polish population There were no significant differences between MS patients and controls. 23238213 Details
Variants Homo sapiens MS HLA-DRB1 6.7-kbp deletion in LILRA3 (ILT6) gene is associated with later onset of the multiple sclerosis in a Polish population We observed significantly higher frequency of HLA-DRB1*1501 allele in cases than in controls. 23238213 Details
Variants Homo sapiens MS PVR The role of the polio virus receptor and the herpesvirus entry mediator B genes for the development of MS We did not find a significant difference in the frequency of the four polymorphisms in the PVR gene between MS patients and controls. 15465608 Details
Variants Homo sapiens MS APOE The role of the polio virus receptor and the herpesvirus entry mediator B genes for the development of MS We did not find a difference between patients and controls with respect to the ApoE4 allele. 15465608 Details
Variants Homo sapiens MS TARDBP A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion No difference in its frequency between MS patients and HCs was observed. 26233805 Details
Variants Homo sapiens MS C9orf72 A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion No C9orf72 expansion reported showing no difference in the frequency of this mutation with respect to HCs . 26233805 Details
Variants Homo sapiens MS IL7 Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China The frequency of the A/A genotype of rs1520333 in IL-7 gene of MS patients was observed dramatically lower than healthy controls, which reached the statistical difference. However, the allelic comparisons did not show the statistical significance. 26608987 Details
Variants Homo sapiens MS CD58 Replication analysis of variants associated with multiple sclerosis risk CD58 rs1414273A allele did not show any MS risk association in the replication Kuwaiti only population sample.CD58 rs1414273 genotypes were not significantly different with or without adjusting for sex. 32355262 Details
Variants Homo sapiens MS TNFRSF1A Replication analysis of variants associated with multiple sclerosis risk TNFRSF1A rs1800693C allele did not sustain significant association with MS risk following adjustment for multiple testing. 32355262 Details
Variants Homo sapiens MS EVI5 Replication analysis of variants associated with multiple sclerosis risk EVI5 rs11808092A allele showed significant MS risk association in the Kuwaiti population sample.In addition, EVI5 rs11808092 genotype association with female MS risk was stronger than in males. 32355262 Details
Variants Homo sapiens MS MTHFR Replication analysis of variants associated with multiple sclerosis risk MTHFR rs1801131G allele significantly associated with MS risk.MTHFR rs1801131 genotype distribution differed between the two cohorts after adjusting for sex and age. 32355262 Details
Variants Homo sapiens MS HLA-DRB1 Population attributable fractions and joint effects of key risk factors for multiple sclerosis We identified a significant interaction between HLA-DR15 in predicting an FCD of CNS demyelination. 26199349 Details
Variants Homo sapiens persistent demyelination B2m Absence of neurological deficits following extensive demyelination in a class I-deficient murine model of multiple sclerosis There was extensive demyelination in the spinal cords of chronically infected class I-deficient and class II-deficient mice of the identical resistant H–2b genotype. 9461192 Details
Variants Homo sapiens MS MBP DNA length polymorphism 5' to the myelin basic protein gene is associated with multiple sclerosis These data suggest that patients with MS differ from population-matched control subjects with respect to DNA polymorphism linked to the myelin basic protein gene but no pathogenic relationship between this polymorphism and MS can be presupposed. 1691612 Details
Variants Homo sapiens MS TNFRSF6B Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predisposition Polymorphisms related with TNFRSF6B, were associated with MS risk. 20962851 Details
Variants Homo sapiens MS TNFRSF14 Members 6B and 14 of the TNF receptor superfamily in multiple sclerosis predisposition The frequencies of the common allele and common genotype of rs6684865 were significantly higher in MS patients than in healthy controls. 20962851 Details
Variants Homo sapiens MS MOG Lack of association of a Taq 1 polymorphism of the human myelin oligodendrocyte glycoprotein gene with multiple sclerosis in a population of patients from the Southampton area None of these distribution of the Taq1 digest polymorphic bands between patients with multiple sclerosis and controls in the present study differences were statistically significant.The incidence in the two sets of patients with multiple sclerosis is very similar. 9436746 Details
Variants Homo sapiens MS CTLA4 CTLA-4 and multiple sclerosis: the A49G single nucleotide polymorphism shows no association with multiple sclerosis in a Southern Australian population There were no significant associations between the A49G genotype and risk of MS. There was a marginal trend towards increased risk of disease amongst AG heterozygotes compared to AA homozygotes. 18378005 Details
Variants Homo sapiens MS IL7R Candidate gene association analysis of multiple sclerosis in the Jordanian Arab population: A case-control study This SNP was found to be associated with an increased risk of MS. 32683075 Details
Variants Homo sapiens MS IL7R Candidate gene association analysis of multiple sclerosis in the Jordanian Arab population: A case-control study This SNP was found to be associated with an increased risk of MS. 32683075 Details
Variants Homo sapiens MS LAG3 Candidate gene association analysis of multiple sclerosis in the Jordanian Arab population: A case-control study This SNP was found to be associated with an increased risk of MS. 32683075 Details
Variants Homo sapiens MS IGH Biological Features of CD5+ CD19+ B1 Cell and Natural IgM (VH4-34) in Chronic Lymphocytic Leukemia vs. Multiple Sclerosis MS patients had significantly lower VH4-34 gene copy number levels compared to the control group. 36640058 Details
Variants Homo sapiens MS HLA-DRB1 Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients Our results confirm that HLA DRB1*15 is positively associated with OCB+. 23785401 Details
Variants Homo sapiens MS MC1R Melanocortin 1 receptor genotype, past environmental sun exposure, and risk of multiple sclerosis Individually, only the Arg160Trp variant was associated with increased MS risk.The association between RHC variant genotype and MS was more evident for women than for men. 18711112 Details
Variants Homo sapiens MS KLC1 A cytoskeleton motor protein genetic variant may exert a protective effect on the occurrence of multiple sclerosis: the janus face of the kinesin light-chain 1 56836CC genetic variant The homozygous variant KLC1 56836CC occurred significantly less frequently in the MS group than in the controls. The homozygous variant KLC1 56836CC proved to be protective as concerns the frequency of MS. 17999208 Details
Variants Homo sapiens MS CCR5 The chemokine receptor CCR5 Δ32 allele in natalizumab-treated multiple sclerosis CCR5 Δ32 is not associated with lower disease activity in MS patients treated with natalizumab. 23668375 Details
Variants Homo sapiens MS CCR5 The chemokine receptor CCR5 Δ32 allele in natalizumab-treated multiple sclerosis We found lower MSSS scores in patients carrying CCR5 Δ32 compared with the remaining patients, which is consistent with previous studies reporting an association with a more favourable disease course. 23668375 Details
Variants Homo sapiens MS LAG3 Association between LAG3/CD4 Genes Variants and Risk for Multiple Sclerosis The frequencies of the LAG3 rs878049 genotypes and allelic variants that were in the Hardy–Weinberg equilibrium, both in MS patients and in controls, did not differ significantly between the two study groups when comparing the whole series and when analyzed each gender separately. 36499569 Details
Variants Homo sapiens MS CD4 Association between LAG3/CD4 Genes Variants and Risk for Multiple Sclerosis The frequencies of the CD4 rs1992452 genotypes and allelic variants that were in the Hardy–Weinberg equilibrium, both in MS patients and in controls, did not differ significantly between the two study groups when comparing the whole series and when analyzed each gender separately. 36499569 Details
Variants Homo sapiens MS CD4 Association between LAG3/CD4 Genes Variants and Risk for Multiple Sclerosis The frequencies of the CD4 rs951818 genotypes and allelic variants that were in the Hardy–Weinberg equilibrium, both in MS patients and in controls, did not differ significantly between the two study groups when comparing the whole series and when analyzed each gender separately. 36499569 Details
Variants Homo sapiens MS IL1A IL-1, IL-1R and TNFalpha gene polymorphisms in Iranian patients with multiple sclerosis Although there was no significant difference in the single allele distribution between patients and controls,genotype analysis revealed significant differences in TC and TT genotypes between these two groups .The results of our data indicate the decrease in frequency of IL-1alpha TC-889 genotype in the patients group versus normal subjects. On the other hand the frequency of IL-1alpha TT -889 genotype decreased significantly in the patients versus normal subjects. 18322311 Details
Variants Homo sapiens MS IL1R1 IL-1, IL-1R and TNFalpha gene polymorphisms in Iranian patients with multiple sclerosis IL-1R position pst1 1970 showed significant differences between MS patients and normal control in alleles C and T allele frequency . In addition, significant differences between MS patients and normal people in CC and TC genotype were found.The results of our data indicate the decrease in frequency of IL-1R T pst1 1970 allele in the patients group versus normal subjects.On the other hand the frequency of IL-1R C pst1 1970 allele and CC genotype decreased significantly in the patients versus normal subjects. 18322311 Details
Variants Homo sapiens MS TNF IL-1, IL-1R and TNFalpha gene polymorphisms in Iranian patients with multiple sclerosis No allele and genotype was significant in -238 position and alleles were significant in -308 position .Also in -308, significant differences were shown in GG and GA genotypes.The results of our data indicate the decrease in frequency of TNF-alpha A-308 allele and AG genotype in the patients group versus normal subjects.On the other hand the frequency of TNFalpha G -308 allele and GG genotype decreased significantly in the patients versus normal subjects. 18322311 Details
Variants Homo sapiens MS IL1B IL-1, IL-1R and TNFalpha gene polymorphisms in Iranian patients with multiple sclerosis Two positions including -511 in promoter and + 3962 in encoding region, were studied.Analysis on allele and genotype frequency of -511 positions revealed no significant statistical difference in patient and normal group. In +3962 position,CC and CT genotypes revealed significant differences . The results of our data indicate the decrease in frequency of IL-1beta TC +3962 genotype in the patients group versus normal subjects. 18322311 Details
Variants Homo sapiens MS IL1RN IL-1, IL-1R and TNFalpha gene polymorphisms in Iranian patients with multiple sclerosis In the IL-1R antagonist at mspal 11100 C/T position,no statistically significant differences were found in alleles between total MS patients and normal controls.However,in TC and TT genotypes, significant differences were shown .The results of our data indicate the decrease in frequency of IL-1 RA TC Mspa1 11100 genotype in the patients group versus normal subjects. 18322311 Details
Variants Homo sapiens MS IL7R Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis In the case control study, there was over-representation of the 504 T allele in PPMS and a non-significant trend towards over-representation of the C allele in SPMS.In healthy controls, no difference in promoter haplotype expression was detected, but in CPMS patients, a small but significant difference was detected in haplotype expression, with promoter haplotype GCA being the high expressor. 16075257 Details
Variants Homo sapiens MS EIF2B5 No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India We could not find statistically significant difference in the frequency of Ile587Val between MS patients and controls. 26671108 Details
Variants Homo sapiens MS TNF Tumour necrosis factor alpha gene (TNF-alpha) -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis We could not detect the AA homozygote genotype in either the MS patients or the HC.For the GG genotype, a statistically significant higher level was found in the PPMS group as compared with the HC group.As regards the G allele, a significant difference was observed between the PPMS and HC groups. The GA genotype was underrepresented in the PPMS group relative to the HC group; for the A allele, the distribution was similar. 19201038 Details
Variants Homo sapiens MS TNF Association of polymorphism -308G/A in tumor necrosis factor-alpha gene ( TNF-α) and TNF-α serum levels in patients with relapsing-remitting multiple sclerosis The differences in genotype distribution were observed after stratification by gender.The female patients showed a significantly elevated frequency of heterozygotes lsthose carrying at least one A-allele (GA/AA genotype) in comparison with the healthy women.In opposite, the distribution of genotypes in men was similar in the group of patients and controls.The frequency of heterozygote GA-genotype was overrepresented among RRMS women with early-onset compared with healthy women.Also, in women with an early manifestation of RRMS, the frequency of A-allele was significantly higher and the wild GG-genotype was less frequent compared with the women of the control group.The distribution of genotype in male patients with early and late-onset of RRMS was lower than healthy men without reaching statistical significance.Moreover, the carriers of at least one A-allele of -308G/A TNF-α polymorphism (GA+AA) are significantly associated with two fold increased risk for RRMS development in women in contrast to men as well as associated with early onset of the disease. 33252003 Details
Variants Homo sapiens MS GSK3B GSK3β genetic variability in patients with Multiple Sclerosis A statistically significant increased frequency of the rs334558 GG genotype was observed in patients as compared with controls.Stratifying MS patients according to the disease subtype, a statistically significant difference of rs334558 GG frequency was found between Relapsing Remitting (RR), but not Primary Progressive or Secondary MS, and controls. 21527318 Details
Variants Homo sapiens MS TNFSF10 Identification and functional characterization of a highly polymorphic region in the human TRAIL promoter in multiple sclerosis Significant differences were found neither between MS patients and healthy controls nor between different disease courses. 15020080 Details
Variants Homo sapiens MS FTO The FTO gene polymorphism rs9939609 is associated with obesity and disability in multiple sclerosis patients FTO rs9939609 genotype distribution in the MS cohort did not differ from the sampled healthy Kuwaiti population distributions after adjusting for both age and gender under both an additive and recessive genetic model. 31836807 Details
Variants Homo sapiens MS FTO The FTO gene polymorphism rs9939609 is associated with obesity and disability in multiple sclerosis patients The A-allele was found to be associated with increased MS disability. 31836807 Details
Variants Homo sapiens MS GSTP1 Combined GSTP1 and NQO1 germline polymorphisms in the susceptibility to Multiple Sclerosis Comparison of the genotype distribution between MS cases and controls revealed no significant differences.Allele frequencies distribution analysis showed similar A and G allele frequencies for both MS patients and controls. 24588223 Details
Variants Homo sapiens MS NQO1 Combined GSTP1 and NQO1 germline polymorphisms in the susceptibility to Multiple Sclerosis The frequencies of variant NQO1 genotypes were significantly higher in MS cases as compared to the controls.Similarly, the T allele frequency was increased in MS patients. 24588223 Details
Variants Homo sapiens MS GSTP1 Combined GSTP1 and NQO1 germline polymorphisms in the susceptibility to Multiple Sclerosis Regarding classification of patients in clinical subtypes, a higher variant G allele frequency was observed in RR patients, as compared to the controls. A significantly higher frequency of heterozygotes A/G was observed in RR patients as compared to the control population. The patients with EDSS ≤ 2 and a benign clinical course exhibit 1.5-fold increased risk of carrying the heterozygous variant genotype, as compared to the patients with EDSS>2 . 24588223 Details
Variants Homo sapiens MS MT-ND1 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis Our results indicated that the prevalence of ND1 gene variations was significantly higher in patients than in healthy controls.We failed to detect Nt 4216 T>C variations in the control group. 25172194 Details
Variants Homo sapiens MS MT-ND2 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis Our results indicated that the prevalence of ND2 gene variations was significantly higher in patients than in healthy controls.The Nt 5153 A>G variations in males of the patient group were significantly higher than those in the males of the control group.The Nt 5153 A>G variations in the females of the patient group were significantly higher than those in the females of the control group . 25172194 Details
Variants Homo sapiens MS MT-ND3 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis Our results indicated that the prevalence of ND3 gene variations was significantly higher in patients than in healthy controls.We failed to detect Nt 10142 C>T variations in the control group. 25172194 Details
Variants Homo sapiens MS MT-ND4 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis Our results indicated that the prevalence of ND4 gene variations was significantly higher in patients than in healthy controls.We failed to detect Nt 11353 T>C, Nt 11935 T>C variations in the control group.The Nt 12062 C>T variation in the females of the case group was significantly higher than that in males whereas, there is no significant difference in the prevalence of remnant variations between males and females of the case group.The Nt 12062 C>T variations in the females of the patient group were significantly higher than those in the females of the control group . 25172194 Details
Variants Homo sapiens MS MT-ND5 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis Our results indicated that the prevalence of ND5 gene variations was significantly higher in patients than in healthy controls.We failed to detect Nt 13708 G>A variations in the control group. The Nt 13042 G>A variations in males of the patient group were significantly higher than those in the males of the control group.The Nt 13042 G>A variations in the females of the patient group were significantly higher than those in the females of the control group . 25172194 Details
Variants Homo sapiens MS MT-ND6 Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis The frequency of Nt 14179 G>A variation in ND6 gene was significantly higher in the control group compared with the patients. 25172194 Details
Variants Homo sapiens MS TRA No linkage between multiple sclerosis and the T cell receptor alpha chain locus The observed frequencies of haplotype sharing did not differ from expected rates and these results provide no evidence for linkage between the TCRa locus and susceptibility to MS. 7931419 Details
Variants Homo sapiens MS NR3C1 The impact of glucocorticoid receptor gene polymorphisms on glucocorticoid sensitivity is outweighted in patients with multiple sclerosis For the ER22/23EK and the N363S variants no homozygous carriers were found.Genotype frequencies were not significantly different between HC and MS patients and the MS subgroups.The two other polymorphisms were not related to GC sensitivity.We defined 'real non-carriers' as having neither the N363S nor the BclIG allele.'Carriers' were cases carrying both the N363S and the BclIG allele.When only one of these polymorphisms was present, cases were defined as 'partly carriers'.In HC, 'real non-carriers' (carrying neither the N363S nor the BclIG allele) were significantly more sensitive to GC compared to 'partly carriers' .In MS patients there was no significant difference. 16083972 Details
Variants Homo sapiens MS PRNP Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population Statistical analysis revealed no significant association between PRNP*129Val and MS. 20592456 Details
Variants Homo sapiens MS TLR3 [TLR3c.1377, TLR9-1486, and TLR9 2848 gene polymorphisms and multiple sclerosis] There was significant difference in genotype and allele distribution of TLR3c.1377 polymorphism between the MS patients and the controls, and the MS patients with T allele had a lower risk. 20197609 Details
Variants Homo sapiens MS TLR3 [TLR3c.1377, TLR9-1486, and TLR9 2848 gene polymorphisms and multiple sclerosis] There was no significant difference in genotypes and allele distribution of TLR9-1486 polymorphism between the MS patients and the controls. 20197609 Details
Variants Homo sapiens MS TLR3 [TLR3c.1377, TLR9-1486, and TLR9 2848 gene polymorphisms and multiple sclerosis] There was higher TLR9 2848 A allele frequency in the MS patients than in the controls, and higher risk in MS patients with A allele than those without. 20197609 Details
Variants Homo sapiens MS IFIH1 Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients Evaluation of single nucleotide polymorphisms (SNPs) in the gene did not reveal significant single-SNP associations with MS risk. 25288302 Details
Variants Homo sapiens MS RIGI Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients Evaluation of single nucleotide polymorphisms (SNPs) in the gene did not reveal significant single-SNP associations with MS risk. 25288302 Details
Variants Homo sapiens MS DHX58 Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients Evaluation of single nucleotide polymorphisms (SNPs) in the gene did not reveal significant single-SNP associations with MS risk. 25288302 Details
Variants Homo sapiens MS MAVS Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients Evaluation of single nucleotide polymorphisms (SNPs) in the gene did not reveal significant single-SNP associations with MS risk. 25288302 Details
Variants Homo sapiens MS IGHV4-39 IGHV4-39 deletion polymorphism does not associate with risk or outcome of multiple sclerosis We observed no significant differences in the observed deletion frequencies between MS cases and controls, or between benign and malignant cases. IGHV4-39 was not present in sequences of PCR products generated with Msdel1 from genomic DNA of individuals suspected to be carrying a homozygous deletion, based on previous screening at markers Msdel2-4. 20471699 Details
Variants Homo sapiens MS APOE Apolipoprotein E polymorphisms status in Iranian patients with multiple sclerosis It seems that individuals carrying APOE-ε4 allele and/or APOE-ε3ε4 genotype develop MS two times more than non-carriers.Also APOE-ε2ε3 genotype or APOE-ε2 allele may have a protective role against MS development in Iranian population. 22698480 Details
Variants Homo sapiens MS HAMP Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis A statistical trend has been shown regarding the tendency to occur primary relapses more frequently among persons with the AA + AG genotype compared with GG patients in the recessive HAMP rs10421768 inheritance model. 35682458 Details
Variants Homo sapiens MS TF Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis In the case of the rs1049269 codominant model of the TF polymorphism, the analysis showed that people with the CT genotype scored statistically significantly lower points in the EDSS scale at the diagnosis of the disease than those with the CC genotype . 35682458 Details
Variants Homo sapiens MS TF Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis It was observed that primary relapses were significantly more frequent in patients with AG and GG genotypes compared with the AA genotype in the recessive inheritance model for TF rs3811647. 35682458 Details
Variants Homo sapiens MS TFR2 Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis No statistically significant correlation was found between the TFR2 rs7385804 genotypes and the subjects with continuous variables in any of the analyzed inheritance models. 35682458 Details
Variants Homo sapiens MS IL7R IL7Rα expression and upregulation by IFNβ in dendritic cell subsets is haplotype-dependent Similar to our previous findings in CD4 T cells, IL7Rα Hap 4 was not upregulated in response to IFNβ in any of the subsets. In contrast, Hap 1 was upregulated in all subsets in response to IFNβ, and mean Hap 2 IL7Rα levels were increased in all subsets. As a result, Hap 4 was consistently expressed at the lowest level of all the haplotypes in all IFNβ-treated cells, significantly lower than Hap 1 and Hap 2 in maturing DCs. In response to IFNβ, IL7Rα Hap 4 transcript (rs3194051 ‘G’) was expressed at a relatively lower level compared to Hap 1 or Hap 2 (both rs3194051 ‘A’) than in the absence of IFNβ. A significant proportion of the combined cohort decreased relative expression of Hap4 in response to IFNβ when the 3 cell subsets were included in the analysis; this did not reach significance for individual groups or cell subsets, The trend was the same in MS and controls. 24147013 Details
Variants Homo sapiens MS CCR5 Chemokine receptor CCR5 in interferon-treated multiple sclerosis There was no significant difference in the prevalence of CCR5 D32 in patients and controls. 17511851 Details
Variants Homo sapiens MS CCR5 Chemokine receptor CCR5 in interferon-treated multiple sclerosis There was no significant difference in the prevalence of the CCR5 promoter -2459 genotypes in patients and controls. 17511851 Details
Variants Homo sapiens MS CCR5 Chemokine receptor CCR5 in interferon-treated multiple sclerosis The CCR5 D32 allele was not associated with attack risk in patients with MS treated with IFN-b. 17511851 Details
Variants Homo sapiens MS CCR5 Chemokine receptor CCR5 in interferon-treated multiple sclerosis The attack risk was not associated with the CCR5 promoter genotype in this sample of IFN-b-treated MS patients. 17511851 Details
Variants Homo sapiens MS IL17A Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese--a case control study Concerning the distribution of allele and genotype, the A/G allele of SNP rs2275913 was not related to MS. 22118860 Details
Variants Homo sapiens MS IL17F Interleukin 17 gene polymorphism is associated with anti-aquaporin 4 antibody-positive neuromyelitis optica in the Southern Han Chinese--a case control study The difference between C-MS and controls did not quite reach statistical significance. 22118860 Details
Variants Homo sapiens MS HLA-DRB1 Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel HLA class II analyses Case–control analysis was significant for the HLA-DRB1 gene in both the Muslim and the Christian populations.Further analysis indicated that in the Muslim population, DRB1*0301 is a major susceptibility allele, positively associated to MS.Surprisingly, in the Christian Arab population the DRB1*0301 allele was negatively associated with MS. Moreover, DRB1*0301 homozygotes were observed only in the Christian control group. 20463743 Details
Variants Homo sapiens (human) MS HLA-DQB1 Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel Analysis of the DQB1 locus revealed a significant difference between cases and controls in the Muslim, and trend for the Christian population.Positive association of the HLA-DQB1*0201 allele in Muslims, and negative association in Christian Arabs. 20463743 Details
Variants Homo sapiens MS HLA-B Opposing effects of the HLA-DRB1*0301-DQB1*0201 haplotype on the risk for multiple sclerosis in diverse Arab populations in Israel The HLA-B*52 allele remained significant after correcting for multiple testing, was negatively associated with MS and totally absent from the patient population. 20463743 Details
Variants Homo sapiens MS VDR Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis There was no evidence of disease association with the VDR SNP rs2228570 in the combined cohort.Similarly, there was no association in the case–control analysis, or over-transmission of either allele in the trio family dataset. 21816760 Details
Variants Homo sapiens MS VDR Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis The minor allele (C) of rs731236 was found to be over-represented in MS in the combined case–control and trio family dataset. In the separate cohorts, there was a higher frequency of the minor allele in cases compared to healthy controls and a trend of over-transmission in the trio cohort. 21816760 Details
Variants Homo sapiens MS IL2RA Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese The annualized relapse rate in the rs2104286-TT genotype MS patients was significantly higher than that in the non-TT (CT+CC) genotype MS patients.The increased relapse rates in the rs2104286-TT genotype MS patients were only observed in females, and not in males. 24332945 Details
Variants Homo sapiens MS IL2RA Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese The MS patients with the rs12722489-CC genotype showed a significantly higher annualized relapse rate than the MS patients with the non-CC genotype.The increased relapse rates in the rs12722489-CC genotype MS patients were only observed in females, and not in males. 24332945 Details
Variants Homo sapiens MS IL2RA Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese No significant associations of any of the rs7090512 genotypes and allele frequencies with MS were observed. 24332945 Details
Variants Homo sapiens MS IL2RA IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations The SNP rs12722489, also located within the IL2RA gene, shows significant association in the German sample and a positive trend in the French trios. 18354419 Details
Variants Homo sapiens MS IL2RA IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations The SNP rs2104286 within the IL2RA gene demonstrated a significant association in the French MS trios and the German sample—whether analysed separately or combined in both samples. 18354419 Details
Variants Homo sapiens MS IL7R IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations The SNP rs6897932 located within the IL7RA gene exhibits a significant association in the French trios and a positive trend in the German sample. 18354419 Details
Variants Homo sapiens MS TNF TNF-alpha, TNF-beta and IL-4 gene polymorphisms in Iranian patients with multiple sclerosis Allelic and genotypic frequencies for this polymorphism was similar in patients with MS and population controls or among different types of the disease. The mentioned functional polymorphism is not likely to cause susceptibility to MS in the Iranian population. 17295710 Details
Variants Homo sapiens MS LTA TNF-alpha, TNF-beta and IL-4 gene polymorphisms in Iranian patients with multiple sclerosis Allelic and genotypic frequencies for this polymorphism was similar in patients with MS and population controls or among different types of the disease. The mentioned functional polymorphism is not likely to cause susceptibility to MS in the Iranian population. 17295710 Details
Variants Homo sapiens MS IL4 TNF-alpha, TNF-beta and IL-4 gene polymorphisms in Iranian patients with multiple sclerosis Allelic and genotypic frequencies for this polymorphism was similar in patients with MS and population controls or among different types of the disease. The mentioned functional polymorphism is not likely to cause susceptibility to MS in the Iranian population. 17295710 Details
Variants Homo sapiens MS HLA-DRB1 Does the DRB1*1501 allele confer more severe and faster progression in primary progressive multiple sclerosis patients? HLA in primary progressive multiple sclerosis An association was found between PPMS and DRB1*1501 allele.Severe morbidity was found in DRB1*1501-positive PPMS patients. Stratification according to ethnic group showed DRB11501 to be significantly associated with PPMS irrespective of ethnicity. 1961631 Details
Variants Homo sapiens (human) MS HLA-DQB1 Does the DRB1*1501 allele confer more severe and faster progression in primary progressive multiple sclerosis patients? HLA in primary progressive multiple sclerosis With respect to the HLA alleles, an association was found between PPMS and DQB10602. 1961631 Details
Variants Homo sapiens MS GFI1 Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes In PBMCs of the risk (G) allele within SNP rs11804321, the expression of GFI1 was increased, as compared to the levels found in samples carrying the protective (A) allele either in heterozygosity or in homozygozity. 21602820 Details
Variants Homo sapiens MS CIITA Role of the MHC2TA gene in autoimmune diseases No independent association with MS was found for either polymorphism in the Spanish cohorts tested.However, when haplotypes were compared between patients with MS and controls, a significant difference in their overall frequency distribution was observed, evidencing a protective haplotype and a risk haplotype.The MHC2TA gene influences predisposition to MS. The -168G allele is not an aetiological variant in itself, but a genetic marker of susceptibility/protection haplotypes. 17012290 Details
Variants Homo sapiens POMS HLA-DRB1 Gene-environment interactions increase the risk of pediatric-onset multiple sclerosis associated with ozone pollution Without high ozone exposure, the presence of HLA-DRB1*15 alleles did not significantly increase the odds of POMS.When both HLA-DRB1*15 alleles and high ozone exposure were present, the odds of having POMS increased to 3.89. 35000467 Details
Variants Homo sapiens POMS CD86 Gene-environment interactions increase the risk of pediatric-onset multiple sclerosis associated with ozone pollution Without high ozone exposure, the presence of the GG genotype of CD86 SNP did not significantly increase the odds of having POMS.Conversely, without the GG genotype of CD86 SNP, high ozone exposure was not associated with increased odds of POMS.When both GG genotype of CD86 SNP and high ozone exposure were present, the odds ratio of POMS increased to 4.06. 35000467 Details
Variants Homo sapiens MS PTAFR Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis The frequency of the AD/DD genotypes was significantly higher in MS patients than in healthy controls.Moreover, the frequency of D allele in MS patients was also significantly higher than those in healthy controls. 15748960 Details
Variants Homo sapiens MS GAS5 GAS5 genomic variants and risk of multiple sclerosis There was a significant over-representation of the rs2067079 T allele in MS patients compared with healthy individuals .This SNP was associated with MS risk in co-dominant and recessive models. 30790644 Details
Variants Homo sapiens MS GAS5 GAS5 genomic variants and risk of multiple sclerosis The rs6790 was not associated with MS risk in any inheritance models. 30790644 Details
Variants Homo sapiens MS CBLB Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis The CBLB-rs12487066 gene polymorphisms showed a trend to association with change in the EDSS after 24 months of IFN treatment, but non-signifcant. 34169444 Details
Variants Homo sapiens MS GRIA3 Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis Women with the GG genotype of the rs12557782 polymorphism in the GRIA3 gene showed greater response to IFN-β. 34169444 Details
Variants Homo sapiens MS CTSS Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis Patients with CC genotype in the rs1136774 polymorphism of the CTSS gene had greater response to IFN-β. 34169444 Details
Variants Homo sapiens MS OAS1 Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis The OAS1-rs10774671 gene polymorphism did not predict the variation of the individual response to IFN-β or change in the EDSS. 34169444 Details
Variants Homo sapiens MS TNFRSF10A Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis The TNFRSF10Ars20576 gene polymorphisms showed a trend to association with change in the EDSS after 24 months of IFN treatment,but non-signifcant. 34169444 Details
Variants Homo sapiens MS IFI16 No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis After multiple test correction, none of the variants we analysed was significantly associated with the risk of developing MS. 24794504 Details
Variants Homo sapiens MS IFI16 No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis After multiple test correction, none of the variants we analysed was significantly associated with the risk of developing MS. 24794504 Details
Variants Homo sapiens MS IFI16 No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis After multiple test correction, none of the variants we analysed was significantly associated with the risk of developing MS. 24794504 Details
Variants Homo sapiens MS IFI16 No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis After multiple test correction, none of the variants we analysed was significantly associated with the risk of developing MS. 24794504 Details
Variants Homo sapiens MS TNF Tumor necrosis factor alpha-308 alleles in multiple sclerosis and optic neuritis No significant difference regarding the TNF alpha-308 polymorphism was observed between MS patients and controls. 8550811 Details
Variants Homo sapiens MS SYN3 Association between Synapsin III gene promoter polymorphisms and multiple sclerosis No significant difference was found in genotype and allele distribution for the g.–196 between patients and controls. 14991350 Details
Variants Homo sapiens MS SYN3 Association between Synapsin III gene promoter polymorphisms and multiple sclerosis A significant association with MS was observed for the g.–631 polymorphism.The C allele of the g.–631 polymorphism occurred less frequently in patients than in controls, and subjects who were carrying at least one C allele had a reduced risk of developing MS.The C allele of the g.–631C >G polymorphism was less frequent in the cases, and that individuals carrying the C allele were at reduced risk for developing MS. 14991350 Details
Variants Homo sapiens MS SYN3 Association between Synapsin III gene promoter polymorphisms and multiple sclerosis The distribution of haplotypes reported a significant difference between cases and controls with the C631 haplotype seeming to confer a significant protection against MS. 14991350 Details
Variants Homo sapiens MS SYN3 Association between Synapsin III gene promoter polymorphisms and multiple sclerosis The distribution of haplotypes reported a significant difference between cases and controls with the A196 haplotype seeming to confer a significant protection against MS. 14991350 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1 alleles with characteristic MRI features of Asian multiple sclerosis All patients with MS showed a significant decrease in the frequency of the DRB1*0901 allele compared with healthy controls.The DRB1*0901 allele was negatively associated with the absence of Barkhof brain lesions. 18952831 Details
Variants Homo sapiens MS HLA-DRB1 Association of the HLA-DRB1 alleles with characteristic MRI features of Asian multiple sclerosis The frequency of the DRB1*1501 allele was insignificantly increased in the Barkhof brain lesion–positive group. 18952831 Details
Variants Homo sapiens MS HLA-DPB1 Association of the HLA-DRB1 alleles with characteristic MRI features of Asian multiple sclerosis None of the DPB1 alleles differed significantly among groups. 18952831 Details
Variants Homo sapiens MS CCR5 The chemokine receptor CCR5 deletion mutation is associated with MS in HLA-DR4-positive Russians The CCR5 phenotype, allele, and genotype frequencies for the study groups of unrelated MS patients and healthy controls did not differ significantly between 219 patients with MS and 354 control individuals. 12451219 Details
Variants Homo sapiens MS Val158Met Catechol-O-methyltransferase Val158Met polymorphism (rs4680) is associated with pain in multiple sclerosis Distribution of rs4680 Val158Met genotypes was not significantly different between individuals with MS in general and healthy people. 24290452 Details
Variants Homo sapiens MS Val158Met Catechol-O-methyltransferase Val158Met polymorphism (rs4680) is associated with pain in multiple sclerosis This study suggests that the Val158Met polymorphism is associated with the presence of pain in MS, because the presence of the Met/Met genotype was more prevalent in those patients with pain. 24290452 Details
Variants Homo sapiens MS IL1A Lack of association between IL-1A and IL-1B promoter polymorphisms and multiple sclerosis In the case of the IL-1A polymorphism, the gene frequency of 91 benign was not statistically diVerent from those of the 107 non-benign patients with multiple sclerosis.IL-1A seemed to aVect the distribution of the age at multiple sclerosis onset. 11183041 Details
Variants Homo sapiens MS IL1B Lack of association between IL-1A and IL-1B promoter polymorphisms and multiple sclerosis As for the IL-1B polymorphism, the gene frequency of the 73 benign patients was also similar to those of the 82 non benign patients with multiple sclerosis. IL-1B genotypes seemed to aVect the distribution of the age at multiple sclerosis onset. 11183041 Details
Variants Homo sapiens MS FOXP3 Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis The A allele was significantly more frequent in MS patients than controls.The C allele for rs3761548 was significantly higher in controls than patients.The association between recessive model of rs3761548 with MS remained significant the results are summarized in. According to the co-dominant model the A/A and C/C homozygote genotype frequencies of rs3761548 were significantly different between patients and controls and they respectively conferred susceptibility and protection toward MS in the study group. 27792007 Details
Variants Homo sapiens MS FOXP3 Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis The A allele was significantly more frequent in MS patients than controls.The G allele for rs2232365 was significantly higher in controls than patients.The association between recessive model of rs2232365 with MS remained significant the results are summarized in. A similar significant negative and positive trend for MS disease was observed for the A/A and G/G homozygote genotype frequencies of rs2232365. Neither the A/C or the A/G heterozygote genotypes were statistically significant. 27792007 Details
Variants Homo sapiens MS CNTF Association of a null mutation in the CNTF gene with early onset of multiple sclerosis The homozygous CNTF null mutation (CNTF -/-) was found in 7 of the 288 randomly selected patients with MS. Patients with the CNTF -/- genotype had a significantly earlier onset of disease with predominant motor symptoms.CNTF contributes to time and site of early clinical manifestation. The frequency of patients with MS with a homozygous CNTF null mutation in this population was not higher than in control groups, indicating that the CNTF null mutation is not a risk factor for development of MS. 11890844 Details
Variants Homo sapiens MS IL2 Effects of the multiple sclerosis associated -330 promoter polymorphism in IL2 allelic expression The higher expression of IL2 -330 GT and TT genotypes, associated with susceptibility to MS, and the altered relative expression between alleles in MS patients supports the importance of IL2 in the MS. 14975604 Details
Variants Homo sapiens MS HLA-DRB1 The multiple sclerosis- and narcolepsy-associated HLA class II haplotype includes the DRB5*0101 allele All Dw2-positive MS patients and control subjects carried the DRBl* 1501 allele.All Dw2-positive patients as well as the 30 Dw2-positive controls carried the DRBS *0101 allele.The Dw2 haplotype was found to include the DRBS*OlOl allele in all the sixteen Dw2 homozygous MS patients and six Dw2 homozygous healthy controls. We have found that the HLA-Dw2 haplotype in MS patients extends to the DRB5 locus. The haplotype associated with MS can thus be specified as DRBl*I501,DRBS*0I01,DQAl*OlO2,DQB1*0602. 8560455 Details
Variants Homo sapiens MS NOS1 Comparative expression of human endogenous retrovirus-W genes in multiple sclerosis In this Australian population,13 alleles of this polymorphism were identified. This analysis indicates that the nNOS variant does not confer an altered effect on MS. Rank analysis also indicated that allelic distributions were not significantly different between test groups. Stratified analyses testing for a gender-specific relationship between MS and nNOS and comparisons of a specific clinical course group were also negative for association. 14759629 Details
Variants Homo sapiens MS NINJ2 A single nucleotide polymorphism within Ninjurin 2 is associated with risk of multiple sclerosis There were no significant difference in the alleles and genotypes frequencies of rs11833579 between cases and controls.Based on the D’ and r statistics, the mentioned SNPS were not in strong linkage disequilibrium. 31292852 Details
Variants Homo sapiens MS NINJ2 A single nucleotide polymorphism within Ninjurin 2 is associated with risk of multiple sclerosis The frequency of T allele of the rs3809263 was significantly higher in MS patients compared with healthy subjects.TT genotype of this SNP was associated with MS risk compared with CC genotype. Moreover, the rs3809263 was associated with MS risk in recessive model. 31292852 Details
Variants Homo sapiens MS PECAM1 PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia After correction of the resulting P-values using the Bonferroni method, no statistical evidence for association with disease was left. 10900349 Details
Variants Homo sapiens MS MPO PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia No differences in AF and PF between the Swedish case and control samples were observed. 10900349 Details
Variants Homo sapiens MS MPO PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia Genotyping of all Swedish subjects revealed no evidence for any effect of the MPO locus on MS development. 10900349 Details
Variants Homo sapiens MS PRKAR1A PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia The resulting Swedish genotypes revealed no preponderance of any allele, neither in the case, nor in the control group. 10900349 Details
Variants Homo sapiens MS SYN3 Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients The rs133946C/C haplotype was overrepresented in the control group as compared with the MS group, but this difference did not reach statistical significance. 18755822 Details
Variants Homo sapiens MS SYN3 Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients The rs13945G/G haplotype was overrepresented in the control group as compared with the MS group, but this difference did not reach statistical significance. 18755822 Details
Variants Homo sapiens MS APOC2 Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis The distribution of microsatellite alleles differed between patients and controls , showing a signicant effect with MS due to the increased frequency of the allele 6 and a decrease frequency of allele 1. 10335523 Details
Variants Homo sapiens MS TNFSF10 TNF-related apoptosis inducing ligand (TRAIL) gene polymorphism in Japanese patients with multiple sclerosis The presence of the CC genotype at position 1595 in exon 5 represents a higher risk of MS. 16040132 Details
Variants Homo sapiens MS HLA-DQB1 Analysis of HLA-DQB1*0602 in Multiple Sclerosis Patients in Khuzestan Province, Iran Results revealed that distribution of mentioned allele was not statistically different among cases and controls;furthermore, no association was shown between this allele and gender, ethnicity or type of disease. 26443252 Details
Variants Homo sapiens MS HLA-DRB1 Month of birth, HLA-DRB1*15 locus and risk of multiple sclerosis in offspring MS patients carrying HLA-DRB1*15 allele were more frequently born in December.Controls carrying HLA-DRB1*15 allele were less frequently born in December than non-carrier controls.Thus, December was confirmed as the common month of birth for HLA-DRB1*15-non-carrier controls and MS HLA-DRB1*15-carrier patients. 27569565 Details
Variants Homo sapiens MS HLA-DRB1 The DRB1 Val86/Val86 genotype associates with multiple sclerosis in Australian patients There was a highly significant increase in the Val/Val genotype in the MS patients and a significant decrease in the Gly/Gly genotype.The Val/Gly genotype was decreased in the MS patients, though not significantly.There was also a highly significant decrease in the Gly phenotype in the MS patients and a significant increase in the Val phenotype. 10439317 Details
Variants Homo sapiens MS HLA-DRB1 The HLA-DRB1 risk alleles for multiple sclerosis are differentially expressed in blood cells of patients from Southern Italy The results show that only two patients with the HLA‐HLA‐DRB1*13 allele and three with the HLA-DRB1*15 allele carried the specific variant in heterozygosis (A/G).All individuals, either patients or controls carrying the HLA‐DRB1*11 allele, had the nonrisk GG genotype. 31313885 Details
Variants Homo sapiens MS HLA-DRB1 Analysis of HLA-class II DQA1, DQB1, DRB1 and DPB1 in Italian multiple sclerosis patients No significant increase in the frequency of DR2 alleles was detected among MS patients. 7605774 Details
Variants Homo sapiens MS HLA-DQB1 Analysis of HLA-class II DQA1, DQB1, DRB1 and DPB1 in Italian multiple sclerosis patients No significant association was found with the glutamine residue at position 34 of the DQ alpha chain. 7605774 Details
Variants Homo sapiens MS HLA-DRB1 Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis Female/male distribution varied between the DR3/DR3 and DR4/DRY and between the DR3/DRX and DR4/DRY groups.An excess of paternally transmitted DR3 in affected but not in healthy offspring was found. No evidence of a PO effect in transmission of DR4 in affected or healthy sibs was found.A PO effect on DR3 transmission from fathers was evident in women but not in men. Moreover, an effect of two copies of the maternal non-transmitted DR3 genotype was found in DR3 females but not in males. 15452304 Details
Variants Homo sapiens MS HLA-DQB1 Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis Female/male distribution varied between the DR3/DR3 and DR4/DRY and between the DR3/DRX and DR4/DRY groups.An excess of paternally transmitted DR3 in affected but not in healthy offspring was found. No evidence of a PO effect in transmission of DR4 in affected or healthy sibs was found.A PO effect on DR3 transmission from fathers was evident in women but not in men. Moreover, an effect of two copies of the maternal non-transmitted DR3 genotype was found in DR3 females but not in males. 15452304 Details
Variants Homo sapiens MS MBP A polymorphism in the repetitive (TGGA)n sequence 5' to the human myelin basic protein gene in Italian multiple sclerosis patients The results of ourstudy indicate a signicantly different distributionof the hMBP polymorphism pattern in relapsing remitting MS patients compared to healthy controls.More specically, the short 354 bp hMBP frag-ment was more frequent in relapsing remitting MS patients than in primary chronic progressive MS and controls,whereas the long 424 bp hMBP fragment was more frequent than the short one inthe whole population studied and particularly inthe healthy controls. 10871781 Details
Variants Homo sapiens MS IL1RN A study of interleukin-1 cluster genes in susceptibility to and severity of multiple sclerosis Among MS patients, there was a significantly increased frequency of IL-1RA allele 2 carriers in women as compared to men. IL-1RA allele 2 carriers were more frequently women with MS than control women.No significant associations were found in two-locus combinations of the allele 2 carriers and non-carriers. 11311293 Details
Variants Homo sapiens MS PNMT Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis In subjects with MS, significant differences in the frequency of the GG genotype at the G-387A marker and the AA genotype at the G-182A marker were observed. Additionally, when both markers were combined and evaluated, highly significant differences between the polymorphism distributions in patients with MS and control subjects were detected. The data suggest that these promoter polymorphisms of the PNMT gene, both independently and cumulatively, show association with MS. 11958827 Details
Variants Homo sapiens MS NOTCH4 SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients Using a logistic regression model, SNP rs422951 in the NOTCH4 gene was independently associated with MS susceptibility. 21654846 Details
Variants Homo sapiens MS HLA-DQA2 SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients Using a logistic regression model, MHC Class II SNP rs3997849, susceptible alleles A and G was independently associated with MS susceptibility. 21654846 Details
Variants Homo sapiens MS CFB Factor B alleles and multiple sclerosis We found a significantly lower frequency of the Bf F allele of the polymorphic factor B system in patients with definite multiple sclerosis (MS) but a normal frequency in patients with optic neuritis or suspected MS. 6120306 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II (DRB1, DQA1 and DQB1) associated genetic susceptibility in Iranian multiple sclerosis (MS) patients The frequency of the DRB1*1503 haplotype had increased significantly among the DR2-positive MS patients compared with the DR2-positive control group. The DRB1*15021 haplotype was negatively associated with MS. 9777330 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II (DRB1, DQA1 and DQB1) associated genetic susceptibility in Iranian multiple sclerosis (MS) patients The frequency of the DQB1*0602 haplotype had increased significantly among the DR2-positive MS patients compared with the DR2-positive control group.The DQB1*0601 haplotype was negatively associated with MS. 9777330 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II (DRB1, DQA1 and DQB1) associated genetic susceptibility in Iranian multiple sclerosis (MS) patients The frequency of the DQA1*0102 haplotype had increased significantly among the DR2-positive MS patients compared with the DR2-positive control group.The DQA1*0103 haplotype was negatively associated with MS. 9777330 Details
Variants Homo sapiens MS STAT3 STAT3 locus in inflammatory bowel disease and multiple sclerosis susceptibility No significant differences were observed between MS patients and controls for any of the studied polymorphisms. 20200543 Details
Variants Homo sapiens MS IL2RA IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese There were no significant differences. 24257225 Details
Variants Homo sapiens MS IL2RA IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese There were no significant differences. 24257225 Details
Variants Homo sapiens MS IL7R IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese There were no significant differences. 24257225 Details
Variants Homo sapiens MS CCL2 An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians We also identified marginally significant (uncorrected) transmission distortion for haplotypes encompassing the CCL2 genes. 16872505 Details
Variants Homo sapiens MS CCL11 An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians We also identified marginally significant (uncorrected) transmission distortion for haplotypes encompassing the CCL11 genes. 16872505 Details
Variants Homo sapiens MS IL6 No association of serum levels of interleukin-6 and its soluble receptor components with a genetic variation in the 3'flanking region of the interleukin-6 gene in patients with multiple sclerosis There were no differences in the allelic distribution of the IL-6 gene C allele between MS patients and healthy controls. 11072134 Details
Variants Homo sapiens MS HLA-DRB1 Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals Results showed the presence of a significantly higher frequency of -DRB1-11 alleles in HC compared to MS patients. Conversely DRB1-15 was more frequent in MS patients then in HC.The distribution of the frequencies of the other HLA-DRB1 alleles was not different between patients and controls. 21664963 Details
Variants Homo sapiens MS VDR Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals Significant differences emerged upon analyzing DRB1-rs731236 loci haplotypes in MS patients and HC.To summarize, the -DRB1-15-T haplotype was present in 9.9% of MS patients and in 4.4% of HC , whereas the -DRB1-15-C haplotype was detected in 7.4% of MS patients but only in 2.0% of HC.Results indicated a 7.88 fold increase of VDR mRNA in rs731236 TT compared to CC cells. Additionally, a 4.08-fold increase of VDR mRNA level was seen in CT compared to CC cells was observed. 21664963 Details
Variants Homo sapiens MS VDR Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals Results showed significant differences in MBP-stimulated intracellular-VDR-expressing total lymphocyte according to rs731236 genotype. Thus, intracellular-VDR expression was augmented in TT compared to either CC or CT cells. Notably, the VDR-total median fluorescence intensity (MFI) of rs731236 TT lymphocytes was significantly increased as well compared to the values observed in CC cells.No difference in VDR expression was observed in unstimulated cells according to rs731236 genotype. 21664963 Details
Variants Homo sapiens MS TNF A population-based case-control study of the tumor necrosis factor alpha-308 polymorphism in multiple sclerosis There were no statistically significant differences between the TNF2 allelic frequencies in the groups of patients with MS. 9270614 Details
Variants Homo sapiens MS SERPINA1 Alpha-1 antitrypsin phenotypes in demyelinating disease: an association between demyelinating disease and the allele PiM3 There was an increase over controls in the number of patients with phenotypes containing M3, and the gene frequency of M3 is significantly increased over controls.The proportion of patients with the M3 gene is significantly higher than in the control population. 3878126 Details
Variants Homo sapiens MS HLA-DRB1 [The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands: the influence exerted by sex] DRB1*1501 is associated with the presence of MS only in females and with lower severity of the disease only in males. 14752708 Details
Variants Homo sapiens MS HLA-DRB1 HLA (A-B-C and -DRB1) alleles and brain MRI changes in multiple sclerosis: a longitudinal study The comparison between HLA DRB1*1501-positive and - negative MS patients did not show significant differences for age, gender, age at disease onset and clinical MS subtype. No significant effect of HLA DRB1*1501 status was found on clinical (Extended Disability Status Scale, MS Severity Score (MSSS)) and cognitive (SDMT) disabilities. 21179117 Details
Variants Homo sapiens MS HLA-B HLA (A-B-C and -DRB1) alleles and brain MRI changes in multiple sclerosis: a longitudinal study HLA B*44 also have consistent effects on MRI parameters in the entire MS population. Subjects carrying HLA B*44 were also significantly associated with better performance on Symbol Digit Modalities Test (SDMT). 21179117 Details
Variants Homo sapiens MS TRBV20OR9-2 TCR beta polymorphisms and multiple sclerosis A total of 267 families with two or more siblings with multiple sclerosis (MS) were genotyped with 14 restriction fragment length polymorphisms at the TCR beta locus.A nonparametric linkage analysis of the data showed no evidence for linkage to this locus . No significant allelic or haplotype transmissions were observed in the total sample of 565 patients. 15175643 Details
Variants Homo sapiens MS CD40 Analysis of the C/T(-1) single nucleotide polymorphism in the CD40 gene in multiple sclerosis No significant differences were found in the frequency of the C/T(-1) polymorphism between the patients with MS and the controls or among different MS subtypes. 17026470 Details
Variants Homo sapiens MS CLEC16A Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia In these Sardinian samples, allele A of rs725613 is positively associated with MS . 18946483 Details
Variants Homo sapiens MS IFNL3 IL28B polymorphisms are not associated with the response to interferon-β in multiple sclerosis Combined analysis of the study cohorts showed no significant associations between SNP rs8099917 and the response to treatment. 21889215 Details
Variants Homo sapiens MS IFNL3 IL28B polymorphisms are not associated with the response to interferon-β in multiple sclerosis Combined analysis of the study cohorts showed no significant associations between SNP rs12979860 and the response to treatment. 21889215 Details
Variants Homo sapiens MS HLA-DRB1 Latitude and HLA-DRB1 alleles independently affect the emergence of cerebrospinal fluid IgG abnormality in multiple sclerosis The rates of positive CSF findings and OCB positivity were significantly higher in HLA-DRB1*04:05-negative and HLA-DRB1*15:01-positive MS patients than in HLA-DRB1*04:05-positive and HLA-DRB1*15:01-negative patients. 25583844 Details
Variants Homo sapiens MS HLA-DRB1 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a negative association between MS susceptibility and DR1-DQ5 haplotype. 9748020 Details
Variants Homo sapiens MS HLA-DRB1 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a trend to a positive association of primary progressive MS with DR1-DQ5. 9748020 Details
Variants Homo sapiens MS HLA-DRB2 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a positive association between MS susceptibility and the DR15-DQ6 haplotypes. 9748020 Details
Variants Homo sapiens MS HLA-DRB3 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a trend to a positive association association of "bout onset" MS with DR17-DQ2. 9748020 Details
Variants Homo sapiens MS HLA-DRB4 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a trend to a positive association of primary progressive MS with DR4-DQ8 . 9748020 Details
Variants Homo sapiens MS HLA-DRB6 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a positive association between MS susceptibility and DR13-DQ7 haplotypes (both are DR6). 9748020 Details
Variants Homo sapiens (human) MS HLA-DQB1 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a trend to a positive association of primary progressive MS with DR4-DQ8 and DR1-DQ5 and an association of "bout onset" MS with DR17-DQ2. 9748020 Details
Variants Homo sapiens (human) MS HLA-DQB1 Major histocompatibility complex class II alleles and the course and outcome of MS: a population-based study We found a positive association between MS susceptibility and the DR15-DQ6 and DR13-DQ7 haplotypes, and we found a negative association with the DR1-DQ5 haplotype. 9748020 Details
Variants Homo sapiens MS IL2RA Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosis DNA methylation of IL2RA is decreased in T cells of MS patients compared with healthy controls.The degree of hypomethylation was differential between cases and controls at cg26316423, being more overt in those with MS. 28077880 Details
Variants Homo sapiens MS IFNAR1 Association study of promoter polymorphisms of interferon alpha and beta receptor subunit 1 (IFNAR1) gene and therapeutic response to interferon-beta in patients with multiple sclerosis rs2850015 SNP indicated a statistically signifcant diference between the responders and non-responders.There was a signifcant diference between the responders and non-responders concerning the TC genotype.The results implied that compared to the CC genotype, the probability of response to treatment was higher in the TC genotype. 34328599 Details
Variants Homo sapiens MS A2M No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis We did not observe significant differences for the genotype and the allele frequency of the Exon 18Del. 11498265 Details
Variants Homo sapiens MS A2M No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis We did not observe significant differences for the genotype and the allele frequency of the polymorphisms Val 1000 Iso. 11498265 Details
Variants Homo sapiens MS LRP6 No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis The homozygous expression of the A216V polymorphism was not observed in any of the MS patients or controls. 11498265 Details
Variants Homo sapiens MS CNR1 Association between a genetic variant of type-1 cannabinoid receptor and inflammatory neurodegeneration in multiple sclerosis The two genotype groups (short and long AAT) did not differ in terms of the main clinical and demographic characteristics. 24391723 Details
Variants Homo sapiens MS HLA-A Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple sclerosis (Western type and Asian type) No statistically significant difference in the frequencies of HLA-A alleles was found between controls and total MS patients, Western type MS patients, Asian type MS patients or between the two subtypes. 9894852 Details
Variants Homo sapiens MS HLA-B Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple sclerosis (Western type and Asian type) After Bonferroni corrections were made there was no statistical significance in the association between HLA-B*5101 alleles and MS in total MS patients and controls.In addition there was no statistical significant difference in frequencies of HLA-B alleles between the two subgroups. 9894852 Details
Variants Homo sapiens MS HLA-DRB1 Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple sclerosis (Western type and Asian type) Positive association between total MS patients and controls was observed in HLA-DRB1*1501.The frequency of DRB1*0901 was decreased in total MS as well as in both Western and Asian type MS. The frequency of HLA DRB1*1501 was increased in Western type MS compared with controls.The frequency of DRB1*1501 did not differ significantly between patients with Asian type MS and controls. The frequency of DRB1*0802 was however increased in Asian type MS when compared with controls. 9894852 Details
Variants Homo sapiens MS HLA-DRB1 Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple sclerosis (Western type and Asian type) After Bonferroni correction there was no statistically significant difference in the allele frequency of the between two subtypes. 9894852 Details
Variants Homo sapiens MS HLA-DRB1 No evidence for an effect of DNA methylation on multiple sclerosis severity at HLA-DRB1*15 or HLA-DRB5 We found no significant effect of DNA methylation across HLA-DRB1*1501 on severity. 20394989 Details
Variants Homo sapiens MS HLA-DRB5 No evidence for an effect of DNA methylation on multiple sclerosis severity at HLA-DRB1*15 or HLA-DRB5 We found no significant effect of DNA methylation across HLA-DRB5 on severity. 20394989 Details
Variants Homo sapiens MS NCF1 NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity DeltaGT/GTGT ratios were not associated with susceptibility to MS. 19077231 Details
Variants Homo sapiens MS NCF1 NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity DeltaGT/GTGT ratios were not associated with susceptibility to MS. 19077231 Details
Variants Homo sapiens MS IL21 Impact of IL-21 Gene Polymorphisms (rs2055979) and the Levels of Serum IL-21 on the Risk of Multiple Sclerosis The results of the study revealed a significant reduction in the distribution of the wild homozygous genotype (GG) in MS patients, in comparison to a healthy control group.However, MS cases and controls did not differ significantly in neither GT nor TT genotypes, 35891764 Details
Variants Homo sapiens MS MMP9 Matrix metalloproteinase-9 -1562 C/T gene polymorphism in Serbian patients with multiple sclerosis In the patients group overall, genotype and allele frequency distributions were not significantly different between patients and controls. We found a significant decrease in T allele carrier frequency in female patients with MS compared to healthy female controls. 17655938 Details
Variants Homo sapiens MS MMP9 Matrix metalloproteinase-9 -1562 C/T gene polymorphism in Serbian patients with multiple sclerosis We did not find significant association of genotypes with disease severity expressed by MSSS. 17655938 Details
Variants Homo sapiens MS LEP Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis The frequency of rs2167270 AG+AA (intermediate+high leptin producer genotypes) and rs2167270A (high leptin producer allele) was significantly higher in MS patients compared to those in controls.Further categorization of studied groups according to their gender showed a significant association between inheritance of intermediate+high leptin signaler genotypes and MS susceptibility in males. 30219158 Details
Variants Homo sapiens MS LEP Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis After classification of LEP rs7799039 genotypes to high (AA) and intermediate+low (AG+GG) leptin producers, it has been revealed that the frequency of high leptin producer genotype was significantly higher in male patients compared to male controls. 30219158 Details
Variants Homo sapiens MS LEP Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis The results did not show any significant association between clinical parameters (including the EDSS score, progression index and the age of disease onset) and different studies genotypes of LEP gene polymorphisms. Also, there were no significant differences in the distributions of LEP rs2167270 genotypes in MS patients with different types of the disease . 30219158 Details
Variants Homo sapiens MS LEP Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis The results did not show any significant association between clinical parameters (including the EDSS score, progression index and the age of disease onset) and different studies genotypes of LEP gene polymorphisms. Also, there were no significant differences in the distributions of LEP rs7799039 genotypes in MS patients with different types of the disease . 30219158 Details
Variants Homo sapiens MS ADIPOQ Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis rs1501299 (+276G>T) polymorphism in the second exon of ADIPOQ gene also showed a significant association with MS susceptibility in male patients.In fact, the frequency of rs1501299 intermediate+low adiponectin producer genotypes (TG+GG) and low adiponectin producer allele (rs1501299G) were significantly higher in male patients compared to male controls. 30219158 Details
Variants Homo sapiens MS ADIPOQ Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis The frequency of low adiponectin producer rs266729GG genotype showed a sex-biased significant increase in male patients compared to male controls.The same comparison at the rs266729G allele showed significant increases in low adiponectin producer G allele in male patients compared to male controls . 30219158 Details
Variants Homo sapiens MS ADIPOQ Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis Among studied SNPs, rs1501299 in ADIPOQ showed a significant association with susceptibility to development of PP-MS.In fact, comparison of adiponectin rs1501299TT genotype and rs1501299G allele carriers (GT+GG) showed that the frequency of rs1501299TT genotype is significantly higher in PP-MS compared to SP-MS+RR-MS patients. 30219158 Details
Variants Homo sapiens MS IL1B Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients IL-1beta gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS. 11498264 Details
Variants Homo sapiens MS IL1RN Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients IL-1ra gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS. 11498264 Details
Variants Homo sapiens MS IL6 Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis We found a significant association between rs1818879 and PC1.A significant association emerged between the SNP rs1818879 and radiological activity at diagnosis. In particular, the presence of the A allele was associated with a higher prevalence of gadolinium-enhancing lesions at the time of diagnosis.In rs1818879, A minor allele carriers significantly increasing CSF levels of both pro-inflammatory and anti-inflammatory cytokines have been observed. 35627281 Details
Variants Homo sapiens MS IFNG IFN-γ and TNF-α Gene Polymorphisms in Multiple Sclerosis Patients in Northwest Iran In the IFN-γ +874A/T gene single nucleotide polymorphism (SNP), the most allelic and genotypic frequencies in MS patients were the A allele and the AT genotype.The T allele in the IFN-γ gene (+874) was considered as potential risk factors for MS. 32368988 Details
Variants Homo sapiens MS TNF IFN-γ and TNF-α Gene Polymorphisms in Multiple Sclerosis Patients in Northwest Iran For the TNF-α 308 G/A SNP, the highest allelic and genotypic frequencies in MS patients were the G allele and AG genotype.The genotypes of AA and AG at the TNF-α gene (-308) at the position-308 were considered as potential risk factors for MS. 32368988 Details
Variants Homo sapiens MS KIF5A KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis Multivariate analysis showed a significant effect of patient rs703842 genotype (AA vs AG) on CSF KIF5A levels, alongside disease subtype and a range of independent cohort variables. 33484325 Details
Variants Homo sapiens MS KIF5A KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis There was a significantly shorter MS duration in patients homozygous for rs12368653 risk SNP AA vs GG. 33484325 Details
Variants Homo sapiens (human) MS HLA-DQB1 DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain DQB1*0602 was the only allele that maintained an association with MS in a logistic regression model. 15083289 Details
Variants Homo sapiens MS APOE No association between the APOE epsilon4 allele and outcome and susceptibility in primary progressive multiple sclerosis No association between the APOE epsilon4 allele and outcome and susceptibility in primary progressive multiple sclerosis. 10847793 Details
Variants Homo sapiens MS NR3C1 Glucocorticoid receptor mutations and clinical sensitivity to glucocorticoid in Chinese multiple sclerosis patients No significant difference in the mutation distribution was detected between the responders and non-responders to GC therapy. 32277392 Details
Variants Homo sapiens MS TNF Gene polymorphism at position -308 of the tumor necrosis factor alpha promotor is not associated with disease progression in multiple sclerosis patients We found no statistically significant differences between the TNF2 allelic frequencies in the groups of patients with MS, ALS, and stroke. 10552245 Details
Variants Homo sapiens MS CFH Serum complement factor H and Tyr402 His gene polymorphism among Egyptians with multiple sclerosis There was no significant difference in the frequency of CFH Tyr402 His genotypes and alleles between MS patients and healthy controls. 26186240 Details
Variants Homo sapiens MS IFNLR1 Analysis of the IL28RA locus as genetic risk factor for multiple sclerosis We did not detect any consistent association of this locus with MS after an exhaustive investigation of polymorphisms. 22386267 Details
Variants Homo sapiens MS MIF MIF and D-DT are potential disease severity modifiers in male MS subjects The frequency of the 173 C-containing allele, was significantly underrepresented in RRMS subjects with disease duration of more than 10 or 15 year compared with progressive MS subjects. 28923927 Details
Variants Homo sapiens MS DDT MIF and D-DT are potential disease severity modifiers in male MS subjects The frequency of the 794 CATT7 or the high-expression 794 CATT8-containing genotype alone also was lower in RRMS subjects with long disease duration compared with progressive MS subjects. 28923927 Details
Variants Homo sapiens MS CD58 Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the CD58 genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS IL7R Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the IL7R genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS CLEC16A Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the KIAA0350 genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS IL2RA Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the IL2RA genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS IL2RA Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the IL2RA genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS CBLB Risk alleles for multiple sclerosis in multiplex families The case– control analysis indicates that risk alleles associated with the CBLB genes are overrepresented in familial MS cases as compared with disease-free control subjects . 19506219 Details
Variants Homo sapiens MS CNTF A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibility and disease severity in patients with multiple sclerosis The frequency of patients with early or late onset of the disease and clinical course of RRMS, SPMS or PPMS was not different in patients homozygous for the CNTF 01 allele or those heterozygous for the CNTF alleles 01 and 02.The CNTF-genotype was not correlated with disease progression, ie, similar frequencies were obtained for patients classified as having less severe, moderately severe or severe MS. 11857064 Details
Variants Homo sapiens MS TNF Decreased frequency of the tumor necrosis factor alpha -308 allele in Serbian patients with multiple sclerosis As for the course of the disease, patients were divided into 2 groups: bout onset disease (RR and secondary progressive) and primary progressive disease.No differences were found in TNF2 allelic frequencies between the subgroups of MS patients subdivided according to the course and the familial occurrence of the disease. 12824709 Details
Variants Homo sapiens MS HLA-G Role of HLA-G 14bp deletion/insertion and +3142C>G polymorphisms in the production of sHLA-G molecules in relapsing-remitting multiple sclerosis In particular,there was a significant difference among the distinct combined HLA-G genotypes for serum sHLA-G concentrations in both MRI inactive and active RR-MS patientsas well as for CSF sHLA-G values in RR-MS patients with MRI inactive and active disease.The highest serum and CSF sHLA-G levels predominated in MRI inactive and active RR-MS patients with C/C,DEL/DEL genotype, who can be judged as the "true" high HLA-G producers.In contrast, the lowest serum and CSF sHLA-G titers prevailed in MRI inactive and active RR-MS patients with G/G,INS/INS who can be accepted as the "true" low sHLA-G producers. 22922127 Details
Variants Homo sapiens MS HLA-G Role of HLA-G 14bp deletion/insertion and +3142C>G polymorphisms in the production of sHLA-G molecules in relapsing-remitting multiple sclerosis In particular,there was a significant difference among the distinct combined HLA-G genotypes for serum sHLA-G concentrations in both MRI inactive and active RR-MS patientsas well as for CSF sHLA-G values in RR-MS patients with MRI inactive and active disease.The highest serum and CSF sHLA-G levels predominated in MRI inactive and active RR-MS patients with C/C,DEL/DEL genotype, who can be judged as the "true" high HLA-G producers.In contrast, the lowest serum and CSF sHLA-G titers prevailed in MRI inactive and active RR-MS patients with G/G,INS/INS who can be accepted as the "true" low sHLA-G producers. 22922127 Details
Variants Homo sapiens MS HLA-G Role of HLA-G 14bp deletion/insertion and +3142C>G polymorphisms in the production of sHLA-G molecules in relapsing-remitting multiple sclerosis In particular,there was a significant difference among the distinct combined HLA-G genotypes for serum sHLA-G concentrations in both MRI inactive and active RR-MS patientsas well as for CSF sHLA-G values in RR-MS patients with MRI inactive and active disease.The highest serum and CSF sHLA-G levels predominated in MRI inactive and active RR-MS patients with C/C,DEL/DEL genotype, who can be judged as the "true" high HLA-G producers.In contrast, the lowest serum and CSF sHLA-G titers prevailed in MRI inactive and active RR-MS patients with G/G,INS/INS who can be accepted as the "true" low sHLA-G producers. 22922127 Details
Variants Homo sapiens MS HLA-DRB1 Presence of the HLADR13 allele among Mexican Mestizos suggests a protective factor against relapsing-remitting multiple sclerosis (RRMS) We found HLA DR 13 was more frequent in healthy controls than in RRMS patients, suggesting a protective factor among Mexican Mestizo population. 26367070 Details
Variants Homo sapiens MS CXCL12 The SDF-1 3'a genetic variation of the chemokine SDF-1α (CXCL12) in parallel with its increased circulating levels is associated with susceptibility to MS: a study on Iranian multiple sclerosis patients Our results showed a significant difference between the A/A, A/G, and G/G genotype and A and G alleles of polymorphisms at position +801 of SDF-1α (CXCL12). 22125123 Details
Variants Homo sapiens MS CLEC16A Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus In the Norwegian replication sample set, all SNPs except rs12923849 were replicated to be associated at the 5% significance level, with rs7296012 being the most strongly associated. 21179112 Details
Variants Homo sapiens MS CLEC16A Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus In the UK replication sample set, rs12708716 and rs12923849 were significantly associated in the trios and case controls combined. 21179112 Details
Variants Homo sapiens MS IL7R Interleukin-7 receptor alpha gene polymorphism influences multiple sclerosis risk in Asians The frequencies of both the C allele and the CC genotype of SNP rs6897932 in the IL-7RA gene in patients with non-NMO MS were significantly higher than those of HCs.However, there was no significant difference in the frequency of either the C allele or the CC genotype between HCs and patients with NMO. The frequencies of both the C allele and the CC genotype were significantly higher in patients with CMS than in HCs, but not in patients with OSMS. This study revealed a significant association of the SNP rs6897932 of IL-7RA gene with non-NMO MS in Japanese populations. 21670443 Details
Variants Homo sapiens MS LEP Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients Allele and genotype frequencies did not differ significantly between MS patients and controls. 21664965 Details
Variants Homo sapiens MS LEPR Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients Allele and genotype frequencies did not differ significantly between MS patients and controls. 21664965 Details
Variants Homo sapiens MS GHRL Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients Allele and genotype frequencies did not differ significantly between MS patients and controls. 21664965 Details
Variants Homo sapiens MS GHSR Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients Allele and genotype frequencies did not differ significantly between MS patients and controls. 21664965 Details
Variants Homo sapiens MS SPP1 The 795CT polymorphism in osteopontin gene is not associated with multiple sclerosis in a Spanish population When global and one-by-one comparisons between both groups were made, no significant differences were observed.No differences were apparent when allelic or phenotypic (carrier) frequencies were compared instead. 17439891 Details
Variants Homo sapiens MS IRF1 Lack of association between the interferon regulatory factor-1 (IRF1) locus at 5q31.1 and multiple sclerosis in Germany, northern Italy, Sardinia and Sweden In none of these populations, did we find any significant allelic association with disease. 11196707 Details
Variants Homo sapiens MS NRG1 Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis No significant difference in the allelic and genotype frequencies of the NRG1 polymorphism between MS patients and control group in Iranian population. 25802071 Details
Variants Homo sapiens MS NRG1 Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis No significant difference in the allelic and genotype frequencies of the NRG1 polymorphism between MS patients and control group in Iranian population. 25802071 Details
Variants Homo sapiens MS NRG1 Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis By classification for clinical MS groups, significant difference in the genotype frequency was observed between SPMS patients and controls for SNP rs6994992 and also, a significant difference in the allelic distributions between PPMS patients and controls was revealed;there was a significant shift in frequency of C allele between PPMS group vs. other type of MS. 25802071 Details
Variants Homo sapiens MS NRG1 Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis Considering rs7014762 polymorphism frequencies, significant difference was observed between primary progressive MS group in comparison to the control group. 25802071 Details
Variants Homo sapiens MS CLEC16A More CLEC16A gene variants associated with multiple sclerosis Four SNPs located in intron 19 of the CLEC16A gene were found associated. 20849399 Details
Variants Homo sapiens MS HNMT Histamine-N-methyl transferase polymorphism and risk for multiple sclerosis The frequencies of HNMT genotypes and HNMTIle alleles in patients with MS did not differ significantly from those of controls. 19538200 Details
Variants Homo sapiens MS VDR Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis We did not find an association of either of the two SNPs with either 25(OH)D or 1,25(OH)2D levels.We did not find an association of these polymorphisms with MS. 19758194 Details
Variants Homo sapiens MS VDR Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis We did not find an association of either of the two SNPs with either 25(OH)D or 1,25(OH)2D levels.We did not find an association of these polymorphisms with MS. 19758194 Details
Variants Homo sapiens MS MMP9 Polymorphism analysis suggests that the gelatinase B gene is not a susceptibility factor for multiple sclerosis No significant differences in overall allelic or genotype frequencies were observed between the diseased and control subpopulation. 10713364 Details
Variants Homo sapiens MS APOE HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS Distribution of APOE genotypes did not differ in patients and control subjects.No variation in risk was found in patients carrying allele 3 in a homozygous state or in those having the 2/3 or 2/2 genotype. 15699400 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1 and disease outcome in multiple sclerosis A significant difference between patients and expected values was noted.The HLA-DRB1*15 allele was found more commonly in MS patients than in controls.A second HLA-DRB1 allele, HLA-DRB1*03, was found significantly more frequently in the patient group after this manoeuvre.The presence of HLA-DRB1*15 was estimated to give an approximately five-fold risk of MS.The risk in HLA-DRB1*15 homozygotes was not statistically different to the risk in HLA-DRB1*15 heterozygotes. 11374095 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1 and disease outcome in multiple sclerosis HLA-DRB1*15 status was not significantly associated with outcome. When assessing the effect of HLA-DRB1*15 on outcome in the total patient group using logistic regression, including disease duration, gender and age at onset as covariates no significant relationships were noted. 11374095 Details
Variants Homo sapiens MS PTPN6 Increased promoter methylation of the immune regulatory gene SHP-1 in leukocytes of multiple sclerosis subjects Over a third of MS subjects had abnormally high promoter methylation. 22458980 Details
Variants Homo sapiens MS MTHFR Association of methylenetetrahydrofolate reductase gene C677T polymorphism with multiple sclerosis in Turkish patients The genotype and allele frequencies of C677T polymorphism showed statistically significant differences between MS patients and controls.A significant association was observed when the patients were compared with the controls according to CC genotype versus CT + TT genotypes. 25203152 Details
Variants Homo sapiens MS SLFN12 Increased DNA methylation of SLFN12 in CD4+ and CD8+ T cells from multiple sclerosis patients A long DMR covering the first exon of SLFN12 showed hypermethylation in MS patients compared to healthy controls in both CD4+ and CD8+ T cells. Hypermethylation was seen in all strata, regardless of treatment status of cases. 30379917 Details
Variants Homo sapiens MS HLA-DRB1 DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis rs9267649 displayed a genome-wide significant association with MS with a similar protective effect in all cohorts . 29921915 Details
Variants Homo sapiens MS CTLA4 Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland No significant association of these polymorphisms or respective haplotypes with MS was found. 17942509 Details
Variants Homo sapiens MS CTLA4 Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland No significant association of these polymorphisms or respective haplotypes with MS was found. 17942509 Details
Variants Homo sapiens MS HLA-G HLA-G gene polymorphism and soluble HLA-G serum level in patients with multiple sclerosis In this research, we found significantly different distribution of HLA-G polymorphism between MS patients and healthy individuals. 29924453 Details
Variants Homo sapiens MS APOE Influence of APOE gene polymorphisms on interferon-beta treatment response in multiple sclerosis We have not found, in our data, any influence of this gene in the RRMS response to INFbeta. 21163235 Details
Variants Homo sapiens MS CCL20 The combined effect of IL-17F and CCL20 gene polymorphism in susceptibility to multiple sclerosis in Egypt Frequencies of CT genotype of rs6749704 in CCL20 gene and C allele in MS patients were significantly higher compared to controls. 30399422 Details
Variants Homo sapiens MS IL17F The combined effect of IL-17F and CCL20 gene polymorphism in susceptibility to multiple sclerosis in Egypt Significant increase of rs763780 in IL-17F gene was detected in MS patients. 30399422 Details
Variants Homo sapiens MS TNF Is tumor necrosis factor-376A promoter polymorphism associated with susceptibility to multiple sclerosis? No significant differences in genotype and allele frequencies were found between groups of healthy individuals and patients with MS. 18051225 Details
Variants Homo sapiens MS ARSA Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression Comparison of MR findings between MS patients, mutations carrier vs. non-carrier, matched for sex, age and disease duration, showed that the total number of lesions and the number of hypointense lesions on T1-weighted images was greater in MS patient carrying the ASA-PD mutations. 21648305 Details
Variants Homo sapiens MS HLA-DRB1 The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients There was no significant association between other HLA-DRB1 alleles and disease course. 17662002 Details
Variants Homo sapiens MS HLA-A The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients This study could not identify any significant contribution from HLA-A on the clinical phenotype in MS. 17662002 Details
Variants Homo sapiens MS IL6 Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis Patients with the 572 GC genotype overall showed a significantly higher median MSSS than did those with the GG genotype. 23202972 Details
Variants Homo sapiens Curdlan and α-mannan stimulated TAGAP TAGAP instructs Th17 differentiation by bridging Dectin activation to EPHB2 signaling in innate antifungal response We found that PBMCs from individuals carries the TAGAP rs1738074 C/C genotype had the significant higher TAGAP mRNA expression levels compared with that from rs1738074 T/C and T/T carriers, whereas PBMCs of rs3127214 T/T carriers had significantly lower TAGAP mRNA levels compared with that of rs3127214 C/T and C/C carriers .Furthermore, Th17 cell abundance was positively correlated with the TAGAP mRNA levels in PBMCs from both of two genotypes.The lower Th17 abundance in the PBMCs of rs3127214 polymorphism carrier could very well explain its susceptibility to candidemia, as Th17 cells were known to play the most critical role in host defense against fungi, such as C. albicans. PBMC-induced proinflammatory gene expression in response to different stimuli was positively correlated with TAGAP mRNA level . 32312989 Details
Variants Homo sapiens MS HLA-DRB1 Parental non-inherited HLA resistance alleles do not confer protection against multiple sclerosis There were no significant differences between maternal and paternal transmission of these alleles to affected and unaffected children and no transmission distortion of these alleles between mothers and fathers to sons and daughters,suggesting that noninherited resistance alleles do not appear to play a role in MS. 18433881 Details
Variants Homo sapiens MS IL2RA Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA rs12722489 and rs2104286 were not in linkage disequilibrium with each other in cases or controls. We did not find association between haplotypes, genotypes or alleles of rs12722489 and rs21042861 and susceptibility to MS in our populationbased sample. There was no association with disease severity and no gender-dependent effect. 21239413 Details
Variants Homo sapiens MS TNF Genetic variation in the tumor necrosis factor alpha gene and the outcome of multiple sclerosis We studied the association of the two most common mutations with the mean ranked severity score and with the temporal profile of MS in patients with available clinical information.No association was evident.An analysis of the distribution of severity scores and a linear regression analysis of EDSS according to duration did not reveal any differences between those with the variants and the wild-type sequence. 9270565 Details
Variants Homo sapiens MS NECTIN2 Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis showed significant evidence for an association with MS severity. 16738668 Details
Variants Homo sapiens MS HLA-A HLA class I & II alleles in multiple sclerosis patients from Puerto Rico The OR for HLA-A *30 was 7.2 (95%CI:.74, 70.2) times the odds of having MS in participants classified in the category “others”. This excess was marginally significant (p-value= 0.089). 23767380 Details
Variants Homo sapiens MS HLA-DRB1 HLA class I & II alleles in multiple sclerosis patients from Puerto Rico The odds of having MS in participants with allele HLA-DRB1 *01 was 11.0 (95%CI: 1.1, 109.7) times the odds of having MS in participants classified in the category “others”. This excess was statistically significant (p-value= 0.041).The odds of having MS in participants with allele *03 was 4.3 (95%CI: 0.97, 19.1) times the odds of having MS in participants classified in the category “others”.his excess was marginally significant (p-value=0.054).The odds of having MS in participants with allele *04 was 0.23 (95%CI: 0.05, 1.09) lower than the odds of having MS in participants with allele *02. This excess was marginally significant (p-value=0.066). 23767380 Details
Variants Homo sapiens MS IL6 The -174/-597 promoter polymorphisms in the interleukin-6 gene are not associated with susceptibility to multiple sclerosis The -597/-174 IL-6pr genotypes have no major role in susceptibility to MS and in determining the clinical course of the disease or age of onset. 11574109 Details
Variants Homo sapiens MS IGHM Susceptibility to multiple sclerosis and the immunoglobulin heavy chain variable region No significant allelic or haplotypic association was observed.Linkage without a population association suggests that a gene encoded on 14q confers susceptibility to multiple sclerosis. 8568530 Details
Variants Homo sapiens MS CYP24A1 The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-颅dihydroxyvitamin D levels in multiple sclerosis patients The presence of the rs2762943 risk allele had no significant impact on disease activity and disability outcomes during follow-颅up. However, risk allele carriers were younger at disease onset (p = 0.04). 37183562 Details
Variants Homo sapiens MS SIRT1 The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis There was no association between SIRT1 levels and ON with/ without MS development. 36949521 Details
Variants Homo sapiens MS SIRT1 The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis There was no association between SIRT1 levels and ON with/ without MS development. 36949521 Details
Variants Homo sapiens neanderthalensis (common: Neandertal, sub-species: neanderthalensis) MS COX2 ckwell Publishing Ltd COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of 765G>C with disease risk polymorphisms in this COX-2 region are unlikely to be involved in MS susceptibility. 17373929 Details
Variants Homo sapiens MS IL4 Role of interleukin 4 in Spanish multiple sclerosis patients An MS protective role for the heterozygous genotype was confirmed in Spain 16169606 Details
Variants Homo sapiens MS MPO Association of a myeloperoxidase promoter polymorphism with multiple q sclerosis We did not find an association with gender, age at onset, susceptibility to, or the course and severity of MS in a population-based sample of 122 patients from Olmsted County 10742562 Details
Variants Homo sapiens MS IL10 Genetic variation at position –1082 of the interleukin 10 (IL10) promotor and the outcome of multiple sclerosis We analysed this diallelic polymorphism in patients with multiple sclerosis but did not find any association between a certain –1082 IL10 genotype and susceptibility to or severity of multiple sclerosis 10683520 Details
Variants Homo sapiens MS CTLA4 Lack of Association between an Exon 1 CTLA-4 Gene Polymorphism A(49)G and Multiple Sclerosis in a Polish Population of the Lower Silesia Region Polymorphism of the CTLA-4 gene (chromosome 2q33) could thus have effects upon the immune response 12894875 Details
Variants Homo sapiens MS HLA-DRB1 Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families Evidence supporting the existence of linkage between MS susceptibility and the HLA class II loci DRB1, DQA1 and DQB1 was provided using two non-parametric tests, affected sib-pair analysis, and affected-pedigree-member (APM) analy- sis. 8556305 Details
Variants Homo sapiens MS HLA-DQA1 Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families Evidence supporting the existence of linkage between MS susceptibility and the HLA class II loci DRB1, DQA1 and DQB1 was provided using two non-parametric tests, affected sib-pair analysis, and affected-pedigree-member (APM) analy- sis. 8556305 Details
Variants Homo sapiens MS HLA-DQB1 Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families Evidence supporting the existence of linkage between MS susceptibility and the HLA class II loci DRB1, DQA1 and DQB1 was provided using two non-parametric tests, affected sib-pair analysis, and affected-pedigree-member (APM) analy- sis. 8556305 Details
Variants Homo sapiens MS TNF Tumor necrosis factor alpha gene polymorphism in multiple sclerosis and optic neuritis the frequency of the NcoI marker phenotypes did not differ between healthy controls and the two disease groups. No extra or missing DNA fragments were observed in the disease groups when compared with controls. 1969423 Details
Variants Homo sapiens MS NOTCH4 A NOTCH4 missense mutation confers resistance to multiple sclerosis in Japanese This NOTCH4 missense mutation decreased the risk for developing MS in Japanese, but did not affect clinical features of those who had already developed the disease 23549433 Details
Variants Homo sapiens MS KCNA3 A common genetic variant rs2821557 in KCNA3 is linked to the severity of multiple sclerosis In conclusion, accelerated MS progression in C allele carriers is likely linked to enhanced Kv1.3-mediated accumulation of pathogenic CXCR3+ TEM cells and exacerbated neuroinflammation. 32056271 Details
Variants Homo sapiens MS NR3C1 Role of NR3C1 and GAS5 genes polymorphisms in Multiple Sclerosis We demonstrated significant differences in distribution of genotype, allele and haplotype frequencies of rs6189, rs41423247 and rs55829688 between the study groups 31724909 Details
Variants Homo sapiens MS NR3C1 Role of NR3C1 and GAS5 genes polymorphisms in Multiple Sclerosis We demonstrated significant differences in distribution of genotype, allele and haplotype frequencies of rs6189, rs41423247 and rs55829689 between the study groups 31724909 Details
Variants Homo sapiens MS NR3C1 Role of NR3C1 and GAS5 genes polymorphisms in Multiple Sclerosis We demonstrated significant differences in distribution of genotype, allele and haplotype frequencies of rs6189, rs41423247 and rs55829690 between the study groups 31724909 Details
Variants Homo sapiens MS GAS5 Role of NR3C1 and GAS5 genes polymorphisms in Multiple Sclerosis We demonstrated significant differences in distribution of genotype, allele and haplotype frequencies of rs6189, rs41423247 and rs55829691 between the study groups 31724909 Details
Variants Homo sapiens MS HLA-DRB1 Pregnancy does not modify the risk ofMS in genetically susceptible women Evidence for interaction between pregnancy exposure and established genetic risk variants, including the strongly associated HLA-DRB1*15:01 allele and a weighted genetic risk score, was not observed. Results from sensitivity analyses were consistent with observed results. 33037103 Details
Variants Homo sapiens MS GAPVD1 An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis The results show that the GAPVD1 expression level and rs2291858 genotype probably affect the response to IFN-β in patients with MS. 33548618 Details
Variants Homo sapiens MS LINGO1 LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis These results suggest that LINGO1 rs9652490 and rs11856808 polymorphisms are not related with risk for MS. This study adds to other published evidence indicating that, to date, the LINGO1 SNPs studied here could be useful risk biomarkers of developing essential tremor, but not other movement disorders. 23574883 Details
Variants Homo sapiens MS LINGO1 LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis These results suggest that LINGO1 rs9652490 and rs11856808 polymorphisms are not related with risk for MS. This study adds to other published evidence indicating that, to date, the LINGO1 SNPs studied here could be useful risk biomarkers of developing essential tremor, but not other movement disorders. 23574883 Details
Variants Homo sapiens MS HLA-DRB1 Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15 Analysis of gray matter lesion size revealed a significant increase of cortical lesion size in cases with high HLA-DRB1 expression. 31882398 Details
Variants Homo sapiens MS IL4 Polymorphisms in the interleukin-4 and IL-4 receptor genes and multiple sclerosis: a study in Spanish-Basque, Northern Irish and Belgian populations We did not identify IL-4–IL4-R gene–gene interaction in determining susceptibility or clinical parameters of MS. Disease or genetic heterogeneity or both may be responsible for the observed lack of reproduction in different populations. Our data reinforce recent findings for a role of IL4-R in susceptibility to MS 16313303 Details
Variants Homo sapiens MS IL4 Polymorphisms in the interleukin-4 and IL-4 receptor genes and multiple sclerosis: a study in Spanish-Basque, Northern Irish and Belgian populations We did not identify IL-4–IL4-R gene–gene interaction in determining susceptibility or clinical parameters of MS. Disease or genetic heterogeneity or both may be responsible for the observed lack of reproduction in different populations. Our data reinforce recent findings for a role of IL4-R in susceptibility to MS 16313303 Details
Variants Homo sapiens MS PDCD1 A PD-1 Polymorphism Is Associated with Disease Progression in Multiple Sclerosis Importantly, PD-1–mediated inhibition of T-cell cytokine secretion (interferon-) is impaired in patients carrying the PD-1 polymorphism. In conclusion, our data suggest that PD-1 polymorphism is a genetic modifier of the progression of MS, possibly through inducing a partial defect in PD-1–mediated inhibition of T-cell activation. 15912506 Details
Variants Homo sapiens MS IL13 Association between an interleukin-13 promoter polymorphism and atopy we demonstrated a strong association (P = 1.09E-05) between the IL-13 1024 marker and inhalation allergy. Furthermore, we showed for the first time that this association also exists in atopic dermatitis (P = 2.0E-02). No association with MS was found. 14641544 Details
Variants Homo sapiens MS HLA-DRB1 Prevalence of multiple sclerosis in Verona, Italy: an epidemiological and genetic study with a homogenous distribution across the country. HLA-DRB1*15 is a relevant MS susceptibility locus in the Italian population, possibly with little influence on the occurrence of concomitant autoimmune disorders. 23279712 Details
Variants Homo sapiens MS IL23R The interleukin 23 receptor gene in multiple sclerosis: A case-control study We conclude that it is unlikely that the IL23R gene confers any significant risk for MS. 18164077 Details
Variants Homo sapiens MS TYK2 A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis by mega-analysis of 10642 MS patients, 10620 controls and 2110 MS trios, the association at genome-wide significance level (P录5.08 10 9, OR 0.77) was shown. 19888296 Details
Variants Homo sapiens MS NLRP3 NLRP3 inflammasome is associated with the response to IFN-b in patients with multiple sclerosis These results point to a role of the NLRP3 inflammasome and its related cytokine IL1B in the response to interferon beta in patients with relapsing-remitting multiple sclerosis. 25586466 Details
Variants Homo sapiens MS IL22 Interleukin-22 is increased in multiple sclerosis patients and targets astrocytes We show that (1) there is a dysregulation in the expression of IL-22 and its antagonist, IL-22BP, in MS patients, (2) IL-22 targets specifically astrocytes in the human brain, and (3) this cytokine confers an increased survival of the latter cells. 26077779 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS SLC11A1 Association of Mycobacterium avium subsp. paratuberculosis and SLC11A1 polymorphisms in Sardinian multiple sclerosis patients Only rs2276631 SNP was associated with MS 23492997 Details
Variants Homo sapiens MS MOG Identification of a Val I 45 IIe substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis It is therefore unlikely that the MOG Val 145 lle variant is responsible for genetic susceptibility to MS. 9493637 Details
Variants Homo sapiens MS VDR Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS 20007432 Details
Variants Homo sapiens MS CYP27B1 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS 20007432 Details
Variants Homo sapiens MS CYP24A1 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS 20007432 Details
Variants Homo sapiens MS CYP2R1 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS 20007432 Details
Variants Homo sapiens MS DBP Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis this does not support a role for the selected SNPs involved in vitamin D metabolism in the etiology of MS 20007432 Details
Variants Homo sapiens MS CD6 Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577, and rs1800693, P = 0.01-0.03) were associated with NMO 22994200 Details
Variants Homo sapiens MS TNFRSF1A Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577, and rs1800693, P = 0.01-0.03) were associated with NMO 22994200 Details
Variants Homo sapiens MS TNFRSF1A Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577, and rs1800693, P = 0.01-0.03) were associated with NMO 22994200 Details
Variants Homo sapiens MS TNFRSF1A Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577, and rs1800693, P = 0.01-0.03) were associated with NMO 22994200 Details
Variants Homo sapiens MS IRF8 Associations of CD6, TNFRSF1A, and IRF8 polymorphisms with risk of inflammatory demyelinating diseases there was no association of IRF8 polymorphisms with IDD, including MS and NMO 22994200 Details
Variants Homo sapiens MS STAT4 Association of the STAT4 Gene With Increased Susceptibility for Some Immune-Mediated Diseases The STAT4 gene is emerging as a novel common risk factor for diverse complex diseases. 18759272 Details
Variants Homo sapiens MS MIR146A Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis the genotype (GC+CC) of rs2910164 predicted relapse compared with the GG genotype (HR=2.09 (95% CI 1.42, 3.06), p=0.0001), as well as a near-significant (p=0.07) association with MS conversion risk 29127522 Details
Variants Homo sapiens MS KIF5A The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. 20508602 Details
Variants Homo sapiens MS SH2B3 The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. 20508602 Details
Variants Homo sapiens MS CD226 The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. 20508602 Details
Variants Homo sapiens MS IFNAR1 Multiple Sclerosis and Hepatitis C Virus Infection Are Associated with Single Nucleotide Polymorphisms in Interferon Pathway Genes genetic variants in the IRF-1 and Stat1 genes of the IFN pathway are associated with MS and HCV infection 183388947 Details
Variants Homo sapiens MS IFNAR2 Multiple Sclerosis and Hepatitis C Virus Infection Are Associated with Single Nucleotide Polymorphisms in Interferon Pathway Genes genetic variants in the IRF-1 and Stat1 genes of the IFN pathway are associated with MS and HCV infection 183388947 Details
Variants Homo sapiens MS STAT1 Multiple Sclerosis and Hepatitis C Virus Infection Are Associated with Single Nucleotide Polymorphisms in Interferon Pathway Genes Compared to controls, Stat1 gene polymorphisms were significantly more frequent in MS patients 183388947 Details
Variants Homo sapiens MS STAT2 Multiple Sclerosis and Hepatitis C Virus Infection Are Associated with Single Nucleotide Polymorphisms in Interferon Pathway Genes genetic variants in the IRF-1 and Stat1 genes of the IFN pathway are associated with MS and HCV infection 183388947 Details
Variants Homo sapiens MS IRF1 Multiple Sclerosis and Hepatitis C Virus Infection Are Associated with Single Nucleotide Polymorphisms in Interferon Pathway Genes Also one IRF-1 gene SNP was associated with MS 183388947 Details
Variants Homo sapiens MS VDR Predisposing role of vitamin D receptor (VDR) polymorphisms in the development ofmultiple sclerosis: A case-control study AA genotype polymorphism ofApaIand BsmI (OR = 4.6 and OR= 2.52, respectively), CC genotype of TaqI (OR= 2.41) and AC genotype ofApaI (OR= 1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs b 1), CC genotype of Apal, and GG genotype ofBsmI(ORs b 1) 27423580 Details
Variants Homo sapiens MS VDR Predisposing role of vitamin D receptor (VDR) polymorphisms in the development ofmultiple sclerosis: A case-control study AA genotype polymorphism ofApaIand BsmI (OR = 4.6 and OR= 2.52, respectively), CC genotype of TaqI (OR= 2.41) and AC genotype ofApaI (OR= 1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs b 1), CC genotype of Apal, and GG genotype ofBsmI(ORs b 1) 27423580 Details
Variants Homo sapiens MS VDR Predisposing role of vitamin D receptor (VDR) polymorphisms in the development ofmultiple sclerosis: A case-control study AA genotype polymorphism ofApaIand BsmI (OR = 4.6 and OR= 2.52, respectively), CC genotype of TaqI (OR= 2.41) and AC genotype ofApaI (OR= 1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs b 1), CC genotype of Apal, and GG genotype ofBsmI(ORs b 1) 27423580 Details
Variants Homo sapiens MS VDR Predisposing role of vitamin D receptor (VDR) polymorphisms in the development ofmultiple sclerosis: A case-control study AA genotype polymorphism ofApaIand BsmI (OR = 4.6 and OR= 2.52, respectively), CC genotype of TaqI (OR= 2.41) and AC genotype ofApaI (OR= 1.79) are associated with the disease status. Nevertheless, the results revealed the protective role of TT genotype of TaqI (ORs b 1), CC genotype of Apal, and GG genotype ofBsmI(ORs b 1) 27423580 Details
Variants Homo sapiens MS ZC3HAV1 A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis The selective pressure is likely to be virus driven; in modern populations, this variant associates with susceptibility to MS, possibly via the interaction with environmental factors. 22319148 Details
Variants Homo sapiens MS IL2 High frequency of the IL-2 330 T/HLA-DRB1*1501 haplotype in patients with multiple sclerosis☆ Our findings support previous findings about the role of the HLA-DRB1*1501 allele in susceptibility to MS. 20594918 Details
Variants Homo sapiens MS HOTAIR HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis influenced the expression of HOTAIR 29030863 Details
Variants Homo sapiens MS CDKN2B-AS1 HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis disrupts a binding site for STAT1 influenced the expression of ANRIL 29030863 Details
Variants Homo sapiens MS CDKN2B-AS1 HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis functionally affect the activity of the 9p21 29030863 Details
Variants Homo sapiens MS LAMP2 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS AVPR2 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS MTMR8 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS F8 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS PORCN X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS ELF4 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS NSDHL X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS HS6ST2 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS RBM10 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS AR X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS TAFAZZIN X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS RIBC1 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS BCOR X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS DKC1 X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women 35905688 Details
Variants Homo sapiens MS HLA-DQB1 Inheritance mode of multiple sclerosis: the effect of HLAclass II alleles is stronger than additive The twolocus genotype association analysis showed that in individuals who carry only one of the risk haplotypes the risk for MS is moderately increased (odds ratio (OR) 2.82; 95% confidence interval (CI) 1.50–5.31). However, in individuals carrying two risk haplotypes the risk for MS is highly increased compared with individuals who carry no risk haplotypes (OR 37.00; 95% CI 8.31–164.74). 25671658 Details
Variants Homo sapiens MS ACE Two frequent polymorphisms of angiotensinogen and their association with multiple sclerosis progression rate For ACE I/D polymorphism, neither significant differences in the genotype–phenotype study nor in the case– control study were observed 21320707 Details
Variants Homo sapiens MS ACE Two frequent polymorphisms of angiotensinogen and their association with multiple sclerosis progression rate No significant association with susceptibility was observed. 21320707 Details
Variants Homo sapiens MS ACE Two frequent polymorphisms of angiotensinogen and their association with multiple sclerosis progression rate No significant association with susceptibility was observed. 21320707 Details
Variants Homo sapiens MS APOE ApoE alleles, depression and positive affect in multiple sclerosis Hierarchical linear regression analyses suggested that after controlling for demographics, disease duration, and disability, ApoE ε2 significantly predicted increased positive affect (R2Δ = 0.05, F(1,94) = 5.44, P = 0.02) and was associated with decreased severity of depressive symptoms, although this did not reach statistical significance (R2Δ = 0.03, F(1,94) = 3.44, P = 0.06). ApoE ε4 did not significantly predict depression status. 19244396 Details
Variants Homo sapiens MS APOE ApoE alleles, depression and positive affect in multiple sclerosis Hierarchical linear regression analyses suggested that after controlling for demographics, disease duration, and disability, ApoE ε2 significantly predicted increased positive affect (R2Δ = 0.05, F(1,94) = 5.44, P = 0.02) and was associated with decreased severity of depressive symptoms, although this did not reach statistical significance (R2Δ = 0.03, F(1,94) = 3.44, P = 0.06). ApoE ε4 did not significantly predict depression status. 19244396 Details
Variants Homo sapiens MS FUT1 Multiple sclerosis and the major histocompatibility complex with the O blood group. At least two genes, FUT1 and FUT2, encoding alpha (1,2) fucosyltransferases, control this complex epistatic effect. 19204267 Details
Variants Homo sapiens MS FUT2 Multiple sclerosis and the major histocompatibility complex with the O blood group. At least two genes, FUT1 and FUT2, encoding alpha (1,2) fucosyltransferases, control this complex epistatic effect. 19204267 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS IL2RA IL2RA/CD25 Gene Polymorphisms: Uneven Association with Multiple Sclerosis (MS) and Type 1 Diabetes (T1D) These findings confirm and extend the association of this gene with MS and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between MS and T1D suggesting different immunopathological roles of IL2RA in these two diseases. 19125193 Details
Variants Homo sapiens MS TNF TNF-376A marks susceptibility to MS in the Spanish population A replication study This study was designed as a reappraisal of the association between the TNF-376A promoter polymorphism and susceptibility to multiple sclerosis found in the Spanish population but not in other populations 15007139 Details
Variants Homo sapiens MS MOG Myelin Oligodendrocyte Gene Polymorphisms and Childhood Multiple Sclerosis the polymorphisms observed do not provide evidence to support a significant role for MOG in multiple sclerosis susceptibility 12149493 Details
Variants Homo sapiens MS KIR3DL1 The killer immunoglobulin-like receptor KIR3DL1 combination with HLA-Bw4 is protective against multiple sclerosis in African Americans The protective effect was observed only in individuals who were not positive for the MS risk allele HLA-DRB1*15:01 26866467 Details
Variants Homo sapiens MS HLA-B The killer immunoglobulin-like receptor KIR3DL1 combination with HLA-Bw4 is protective against multiple sclerosis in African Americans The protective effect was observed only in individuals who were not positive for the MS risk allele HLA-DRB1*15:01 26866467 Details
Variants Homo sapiens MS CD40 Investigation of gene-gene interactions between CD40 and CD40L in Polish multiple sclerosis patients we were not able to detect gene-gene interactions between CD40 and CD40L polymorphisms associated with multiple sclerosis. 24912008 Details
Variants Homo sapiens MS CD40 Investigation of gene-gene interactions between CD40 and CD40L in Polish multiple sclerosis patients we were not able to detect gene-gene interactions between CD40 and CD40L polymorphisms associated with multiple sclerosis. 24912008 Details
Variants Homo sapiens MS CD40 Investigation of gene-gene interactions between CD40 and CD40L in Polish multiple sclerosis patients we were not able to detect gene-gene interactions between CD40 and CD40L polymorphisms associated with multiple sclerosis. 24912008 Details
Variants Homo sapiens MS ASAP2 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.36)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS PDZRN4 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.37)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS CSMD1 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.38)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS CSMD1 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.39)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS TBC1D2 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.40)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS SH3GL2 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.41)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS ZIC1 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.42)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS EN1 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.43)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS TRIB2 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.44)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS TMEM74B Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.45)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS SLC25A36 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.46)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS TENM3-AS1 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.47)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS GPC5 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Only rs9523762 mapping in the GPC5gene was significantly associated(G allele, P1.6 10 5 ; odds ratio (95% confidence interval)1.23 (1.12–1.48)), supporting a role for this proteoglycan in MS predisposition 20944657 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens MS SH2D2A The SH2D2A gene and susceptibility to multiple sclerosis the present study shows that the SH2D2A gene may contribute to susceptibility to MS. 18554728 Details
Variants Homo sapiens CD、MS IL23R IL23R: a susceptibility locus forceliac disease andmultiple sclerosis? rs7517847, did not show significant differences between patients and controls 18368064 Details
Variants Homo sapiens CD、MS IL23R IL23R: a susceptibility locus forceliac disease andmultiple sclerosis? The analysis of IL23R polymorphisms showed susceptibility to both diseases marked by the presence of rs11209026_A 18368064 Details
Variants Homo sapiens CD、MS IL12B IL23R: a susceptibility locus forceliac disease andmultiple sclerosis? There are no differences in IL12B genotypes conditioned by IL23R and vice versa 18368064 Details
Variants Homo sapiens CD、MS IL12B IL23R: a susceptibility locus forceliac disease andmultiple sclerosis? There are no differences in IL12B genotypes conditioned by IL23R and vice versa 18368064 Details
Variants Homo sapiens MS MMP9 MMP-9 microsatellite polymorphism and multiple sclerosis Comparison of allelic frequencies showed that a higher number of CA repeats characterized the MS group ( P< 0.0001) and prevalence of carriers of z22 CA repeats was higher in the MS than in the Control Group 15223247 Details
Variants Homo sapiens MS HLA-DRB1 A study of the HLA-DR region in clinical subgroups of multiple sclerosis and its influence on prognosis No single allele is associated with either a good or poor prognosis 10426152 Details
Variants Homo sapiens MS HLA-DRB1 A study of the HLA-DR region in clinical subgroups of multiple sclerosis and its influence on prognosis No single allele is associated with either a good or poor prognosis 10426152 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis these results suggest that it is unlikely that germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS TRBV20OR9-2 Human T-Cell Receptor Vj Gene Polymorphism and Multiple Sclerosis germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility 7717407 Details
Variants Homo sapiens MS NPY Association Study of Two Functional Single Nucleotide Polymorphisms of Neuropeptide Y Gene with Multiple Sclerosis In conclusion, obtained results demonstrate the probable role of NPY SNPs in susceptibility to MS within the Iranian population. 27559040 Details
Variants Homo sapiens MS NPY Association Study of Two Functional Single Nucleotide Polymorphisms of Neuropeptide Y Gene with Multiple Sclerosis In conclusion, obtained results demonstrate the probable role of NPY SNPs in susceptibility to MS within the Iranian population. 27559040 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis no association with disease severity was observed for rs1800693 23624563 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis For rs4149584, R92Q carriers were younger at disease onset and progressed slower compared to noncarriers 23624563 Details
Variants Homo sapiens MS IL1B The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population Our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta ()511 C/T) variant warrants further investigation. 20192980 Details
Variants Homo sapiens MS IL1B The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population Our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta ()512 C/T) variant warrants further investigation. 20192980 Details
Variants Homo sapiens MS IL1A The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population Our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta ()513 C/T) variant warrants further investigation. 20192980 Details
Variants Homo sapiens MS IL1A The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population Our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta ()514 C/T) variant warrants further investigation. 20192980 Details
Variants Homo sapiens MS IL7R Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL7RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL7R Variation in the IL7RA and IL3RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL8RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL7R Variation in the IL7RA and IL4RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL9RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL7R Variation in the IL7RA and IL5RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL10RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL7R Variation in the IL7RA and IL6RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL11RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL2RA Variation in the IL7RA and IL7RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL12RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL2RA Variation in the IL7RA and IL8RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL13RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL2RA Variation in the IL7RA and IL9RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL14RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IL2RA Variation in the IL7RA and IL10RA genes in German multiple sclerosis patients these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL15RA variation may primarily affect chronic disease courses. 19231135 Details
Variants Homo sapiens MS IFNG Analysis of an IFN-g gene (IFNG) Polymorphism in Multiple Sclerosis in Europe: Effect of Population Structure on Association with Disease I2 is significantly more often transmitted to DRB1*032/*042 males, than to DRB1*032/*042 females. The odds ratio (OR) for IFNG-associated susceptibility to MS in the total Sardinian DRB1*032/*042 group was 1.88 for I2 heterozygotes but amounted to 8.235 for I2 homozygotes, suggestive of a recessive mode of inheritance 10505747 Details
Variants Homo sapiens MS HLA-DRB1 Analysis of an IFN-g gene (IFNG) Polymorphism in Multiple Sclerosis in Europe: Effect of Population Structure on Association with Disease I2 is significantly more often transmitted to DRB1*032/*042 males, than to DRB1*032/*042 females. The odds ratio (OR) for IFNG-associated susceptibility to MS in the total Sardinian DRB1*032/*042 group was 1.88 for I2 heterozygotes but amounted to 8.235 for I3 homozygotes, suggestive of a recessive mode of inheritance 10505747 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL21 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL22 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL23 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL24 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL25 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL26 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL27 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL28 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL29 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL30 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL31 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS IL21 No evidence of IL21 association with multiple sclerosis in a Swedish population IL32 has not been shown to be a major risk gene for MS. 21736561 Details
Variants Homo sapiens MS CRYAB αB-Crystallin genotype has impact on the multiple sclerosis phenotype Carriers of the rare allele CRYAB–650*C had an increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course. 14610128 Details
Variants Homo sapiens MS CRYAB αB-Crystallin genotype has impact on the multiple sclerosis phenotype Carriers of the rare allele CRYAB–650*C had an increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course. 14610128 Details
Variants Homo sapiens MS CRYAB αB-Crystallin genotype has impact on the multiple sclerosis phenotype Carriers of the rare allele CRYAB–650*C had an increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course. 14610128 Details
Variants Homo sapiens MS HLA-DRB1 Three allele combinations associated with Multiple Sclerosis We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3), CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2) allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*04 were also reidentified as MS-associated 16872485 Details
Variants Homo sapiens MS TNF Three allele combinations associated with Multiple Sclerosis We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3), CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2) allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*05 were also reidentified as MS-associated 16872485 Details
Variants Homo sapiens MS TGFB1 Three allele combinations associated with Multiple Sclerosis We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3), CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2) allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*06 were also reidentified as MS-associated 16872485 Details
Variants Homo sapiens MS CTLA4 Three allele combinations associated with Multiple Sclerosis We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3), CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2) allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*07 were also reidentified as MS-associated 16872485 Details
Variants Homo sapiens MS CCR5 Three allele combinations associated with Multiple Sclerosis We identified two previously unknown MS-associated tri-allelic combinations: -509TGFβ1*C, DRB1*18(3), CTLA4*G and -238TNF*B1,-308TNF*A2, CTLA4*G, which perfectly separate MS cases from controls, at least in the present sample. The previously described DRB1*15(2) allele, the microsatellite TNFa9 allele and the biallelic combination CCR5Δ32, DRB1*08 were also reidentified as MS-associated 16872485 Details
Variants Homo sapiens MS PLAT PAI and TPA gene polymorphisms in multiple sclerosis TPA DD/PAI-1 4G4G genotype combination has reached a borderline significance for reduced risk for MS 17986506 Details
Variants Homo sapiens MS SERPINE1 PAI and TPA gene polymorphisms in multiple sclerosis TPA DD/PAI-1 4G4G genotype combination has reached a borderline significance for reduced risk for MS 17986506 Details
Variants Homo sapiens MS IFNG IFNG polymorphisms are associated with gender differences in susceptibility to multiple sclerosis Polymorphisms of IFNG may contribute to differences in susceptibility to MS between men and women 15674394 Details
Variants Homo sapiens MS HLA-DRB1 Mapping Multiple Sclerosis Susceptibility to the HLA-DR Locus in African Americans A selective association with HLA-DRB1*15 was revealed, indicating a primary role for the DRB1 locus in MS independent of DQB1*0602 14669136 Details
Variants Homo sapiens MS HLA-DQB1 Mapping Multiple Sclerosis Susceptibility to the HLA-DR Locus in African Americans A selective association with HLA-DRB1*15 was revealed, indicating a primary role for the DRB1 locus in MS independent of DQB1*0602 14669136 Details
Variants Homo sapiens MS PRF1 Variations of the perforin gene in patients with multiple sclerosis A91V and possibly other perforin variations indicate susceptibility to MS. 18496551 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression 18691768 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression 18691768 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression 18691768 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression 18691768 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression 18691768 Details
Variants Homo sapiens MS CTLA4 Genomic regulation of CTLA4 and Multiple Sclerosis We found that the SNP at 658 only acted as a regulatory SNP in patients with MS, suggesting the existence of epigenetic changes due to this disease. 18691768 Details
Variants Homo sapiens MS APOE APOE and risk of cognitive impairment in multiple sclerosis The AA homozygous state of the -491 AIT polymorphism of the APOE regulatory region is associated with I cognitive impairment in patients with MS. 10536914 Details
Variants Homo sapiens MS CTLA4 CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis No differences in the allelic distribution of the G49 allele between multiple sclerosis (MS) patients and the control group was found. However, the G49 allele occurred in a significant higher percentage of patients with primary progressive MS compared to patients with bout onset of disease 12458055 Details
Variants Homo sapiens MS HSPA4 Are Hsp70 protein expression and genetic polymorphism implicated in multiple sclerosis inflammation? indicating animplication of the G allele ofHSP70-2 gene polymorphism in the development ofMS. 24485944 Details
Variants Homo sapiens MS VDR VARIATION IN THE VITAMIN D RECEPTOR GENE IS ASSOCIATED WITH MULTIPLE SCLEROSIS IN AN AUSTRALIAN POPULATION Our results support a role for the VDR gene increasing the risk of developing multiple sclerosis, particularly the progressive clinical subtypes of MS. 16076630 Details
Variants Homo sapiens MS ENPEP VARIATION IN THE VITAMIN D RECEPTOR GENE IS ASSOCIATED WITH MULTIPLE SCLEROSIS IN AN AUSTRALIAN POPULATION Our results support a role for the VDR gene increasing the risk of developing multiple sclerosis, particularly the progressive clinical subtypes of MS. 16076630 Details
Variants Homo sapiens MS IL2RA Genetic biomarkers in multiple sclerosis: An umbrella review of meta-analyses of observational studies One association between the rs2104286 (A vs G contrast) polymorphism of the interleukin 2RA (IL2RA) gene and increased MS susceptibility was initially supported by highly suggestive evidence 35526474 Details
Variants Homo sapiens MS IL2RA Genetic biomarkers in multiple sclerosis: An umbrella review of meta-analyses of observational studies We also identified that two associations of IL2RA gene (rs2104286 poly颅 morphism [AA vs AG + GG contrast] and rs12722489 polymorphism [C vs T contrast] with MS risk was also graded as suggestive in the main analysis. 35526474 Details
Variants Homo sapiens MS IL7R Genetic biomarkers in multiple sclerosis: An umbrella review of meta-analyses of observational studies The remaining four associations with suggestive evidence were associated with rs987107 and T244 polymorphisms of the IL7R gene. 35526474 Details
Variants Homo sapiens MS IL7R Genetic biomarkers in multiple sclerosis: An umbrella review of meta-analyses of observational studies The remaining four associations with suggestive evidence were associated with rs987107 and T244 polymorphisms of the IL7R gene. 35526474 Details
Variants Homo sapiens MS IL4 Association of interleukin-4 polymorphisms with multiple sclerosis in southeastern Iranian patients We observed a significant difference in the C/C, T/C, and T/T genotypes of the -590 region of IL-4 between patients with MS and healthy controls (P<.001). 22366824 Details
Variants Homo sapiens MS ACE Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-尾 treatment response in multiple sclerosis patients: a preliminary report The ACE I/D polymorphism and pretreatment relapse rate accounted for ~26.7% of the IFN-β response variability among the men in the sample 28430710 Details
Variants Homo sapiens MS HLA-DPB1 Both the HLA-DPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors DRB1*1501 was not associated with DPB1*0301 nor DPB1*0501 in either patients or controls (data not shown), and the linkage disequilibria between these alleles were also not found in a large Japanese population 10777094 Details
Variants Homo sapiens MS HLA-DPB1 Both the HLA-DPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors DRB1*1501 was not associated with DPB1*0301 nor DPB1*0501 in either patients or controls (data not shown), and the linkage disequilibria between these alleles were also not found in a large Japanese population 10777094 Details
Variants Homo sapiens MS HLA-DPB1 Both the HLA-DPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors DRB1*1501 was not associated with DPB1*0301 nor DPB1*0501 in either patients or controls (data not shown), and the linkage disequilibria between these alleles were also not found in a large Japanese population 10777094 Details
Variants Homo sapiens MS IFNG An IFNG polymorphism is associated with interferon-beta response in Spanish MS patients Our results show a very different allelic distribution when patients with relapses were compared with relapse-free patients. 16430971 Details
Variants Homo sapiens MS HSPA1B Response to oxidative stress of peripheral blood mononuclear cells from multiple sclerosis patients and healthy controls the HSP70-2 rs1061581 polymorphism is related to ROS levels 31720998 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN2A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN3A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN4A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN5A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN6A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS GRIN2A Glutamate gene polymorphisms predict brain volumes in multiple sclerosis we show associations between GRIN7A SNPs and phenotypic variation in NBV and NWMV in this first exploratory study 22851457 Details
Variants Homo sapiens MS MEFV Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease carrying rare variants in MEFV was associated with the development of severe systemic side-effects upon IFN-å°¾ treatment. 23325590 Details
Variants Homo sapiens MS IL10 Association of the IL-10 receptor A536G (S138G) lossof-function variant with multiple sclerosis in Tunisian patients our results suggest that S138G loss-of-function polymorphism of the IL-10R1 may be important risk factor in increasing susceptibility to MS. 28225209 Details
Variants Homo sapiens MS HLA-G An investigation into the association between HLA-G 14 bp insertion/ deletion polymorphism and multiple sclerosis susceptibility not only HLA-G 14 bp insertion/deletion polymorphism could be associated with expression rate of the HLA-G gene and its plasma level, but also could be considered as a risk factor for susceptibility to MS in our study population. 26711580 Details
Variants Homo sapiens MS IFNG Interferon Gamma Allelic Variants IFNG is associated with sex bias in MS susceptibility and with expression of IFN gamma in MS 18332247 Details
Variants Homo sapiens MS TNF Association among serous and cerebrospinal fluid TNF-α,gene polymorphisms of TNF-αand multiple sclerosis in Han nationality of southern China The TNF-ot level in soFIIIII is associated with active MS,but not in the CSF.The gene o p lymorphisms ofTNF-o.一308G/A is not associated with MS in Han nationality of southern China 17160953 Details
Variants Homo sapiens MS VDR Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese he results indicate for the first time an association ofMS withVDRG polymorphism, which may be involved in pathogenesis of MS, or in the linkage disequilibrium of VDRG to another pathogenic gene loci 10465499 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility in an Arabian Gulf population, the ZFAT rs733254 polymorphism 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS ZFAT ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility ZFAT was associated with MS in women but not in men 27572828 Details
Variants Homo sapiens MS TNF Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.001) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS TNF Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.001) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS TNF Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.001) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL2 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.002) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL6 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.003) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL6 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.003) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL6 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.003) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL6 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.003) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS IL6 Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients Remarkable results were obtained for IL-2 GG (/ 330 genotype (P0/ 0.06), IL-6 C (/ 174 allele (P0/ 0.06), CG and GG genotypes (PB/ 0.001), and GG (P0/ 0.02) and CG (PB/ 0.001) haplotypes, and TNF-a A (/ 238 allele (PB/ 0.001), GG (P0/ 0.003) and GA (PB/ 0.003) haplotypes. These results suggest that polymorphic variations of these pro-inflammatory cytokines play an important role in susceptibility to MS. 17439892 Details
Variants Homo sapiens MS CCL20 Higher Circulating Levels of Chemokine CCL20 in Patients with Multiple Sclerosis: Evaluation of the Influences of Chemokine Gene Polymorphism, Gender, Treatment and Disease Pattern higher levels of CCL20 in patients that represent that the chemokine may play an important role in the pathogenesis ofMS 24395091 Details
Variants Homo sapiens MS VDR Association of serum levels and receptor genes BsmI, TaqI and FokI polymorphisms of vitamin D with the severity of multiple sclerosis Our results suggest that FokI and TaqI polymorphisms ofVDR are associated with MS risk and TaqI polymorphism is associated with Vitamin D levels in MS patients. Meanwhile, no difference was observed between VDR gene polymorphisms and any types of MS. 33485603 Details
Variants Homo sapiens MS VDR Association of serum levels and receptor genes BsmI, TaqI and FokI polymorphisms of vitamin D with the severity of multiple sclerosis Our results suggest that FokI and TaqI polymorphisms ofVDR are associated with MS risk and TaqI polymorphism is associated with Vitamin D levels in MS patients. Meanwhile, no difference was observed between VDR gene polymorphisms and any types of MS. 33485603 Details
Variants Homo sapiens MS VDR Association of serum levels and receptor genes BsmI, TaqI and FokI polymorphisms of vitamin D with the severity of multiple sclerosis Our results suggest that FokI and TaqI polymorphisms ofVDR are associated with MS risk and TaqI polymorphism is associated with Vitamin D levels in MS patients. Meanwhile, no difference was observed between VDR gene polymorphisms and any types of MS. 33485603 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-1 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-2 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-3 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-4 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-5 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-6 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TNFSF10 Candidate Gene Study of TRAILand TRAILReceptors: Association with Response to Interferon Beta Therapy in Multiple Sclerosis Patients These findings show a role for TRAILR-7 gene variations in the clinical outcome of IFN beta therapy that might have relevance as a biomarker to predict the response to IFN beta in MS. 23658636 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.021). 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.022). 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.023). 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.024). 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients There appears to be a possible association between the TLR3 missense mutation rs3775291 and multiple sclerosis, which might be attributed to changes in the TLR3 functional properties 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.026). 31177052 Details
Variants Homo sapiens MS TLR3 Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% ofMS patients versus 11% of HC (Fisher's exact test, p=0.027). 31177052 Details
Variants Homo sapiens MS SOCS1 A cytokine gene screen uncovers SOCS1 as genetic risk factor for multiple sclerosis The SOCS1 rs243324 variant was validated as risk factor for MS 21716315 Details
Variants Homo sapiens MS ANKRD55 Novel Insights into the Multiple Sclerosis Risk Gene ANKRD55 we found that the risk (C) allele of rs6859219 is associated with higher expression of ANKRD55 mRNA in PBMCS and CD4+ T cells 27183579 Details
Variants Homo sapiens MS IL22RA2 IL-22RA2 Associates with Multiple Sclerosis and Macrophage Effector Mechanisms in Experimental Neuroinflammation The association of IL-22RA2 withbothEAE andMS strengthens its potential role in disease progression. 21041731 Details
Variants Homo sapiens MS IL2RA IL2RA Methylation and Gene Expression in Relation to the Multiple Sclerosis-Associated Gene Variant rs2104286 and Soluble IL-2Ra in CD8+ T Cells We have identified allele specific methylation of the CpG-site located in intron 1 that is perturbed by the rs2104286 SNP in CD8+ T cells from genotype-selected healthy subjects (HS). 34386002 Details
Variants Homo sapiens MS HMOX2 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis The frequencies of HMOX2 rs1051308AA genotype and HMOX2 rs1051308A and HMOX1 rs2071746A alleles were higher in MS patients than in controls, 26868429 Details
Variants Homo sapiens MS HMOX2 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis The frequencies of HMOX2 rs1051308AA genotype and HMOX2 rs1051308A and HMOX1 rs2071746A alleles were higher in MS patients than in controls, 26868429 Details
Variants Homo sapiens MS HMOX1 Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis The frequencies of HMOX2 rs1051308AA genotype and HMOX2 rs1051308A and HMOX1 rs2071746A alleles were higher in MS patients than in controls, 26868429 Details
Variants Homo sapiens MS VAV1 A Role for VAV1 in Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis VAV1 plays a central role in controlling central nervous system immunemediated disease and proinflammatory cytokine production critical for disease pathogenesis. 20368159 Details
Variants Homo sapiens MS CCL22 Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis No differencesin either allelic or genotypic frequency of the C/T SNP in CCL22 promoter were observed between cases and controls 17967467 Details
Variants Homo sapiens MS CCL22 Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis A trend towards a decreased allelic frequency of the A allele of the CCL22 C/A SNP as well as of the T allele of the CCL17 C/T SNP was found in patients compared with controls 17967467 Details
Variants Homo sapiens MS CCL17 Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis A trend towards a decreased allelic frequency of the A allele of the CCL22 C/A SNP as well as of the T allele of the CCL17 C/T SNP was found in patients compared with controls 17967467 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 indicated the strongest additive association with MS risk in Hispanics 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 dominant, risk; HLA-A*2:01 additive, protective; HLA-DPB1*03:01 additive, risk; HLA-DRB1*13:03:01 additive, risk; HLA-DQB1*02:01 additive, risk; HLA-DRB1*15:01 additive, risk 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 dominant, risk; HLA-A*2:01 additive, protective; HLA-DPB1*03:01 additive, risk; HLA-DRB1*13:03:01 additive, risk; HLA-DQB1*02:01 additive, risk; HLA-DRB1*15:01 additive, risk 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 dominant, risk; HLA-A*2:01 additive, protective; HLA-DPB1*03:01 additive, risk; HLA-DRB1*13:03:01 additive, risk; HLA-DQB1*02:01 additive, risk; HLA-DRB1*15:01 additive, risk 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 dominant, risk; HLA-A*2:01 additive, protective; HLA-DPB1*03:01 additive, risk; HLA-DRB1*13:03:01 additive, risk; HLA-DQB1*02:01 additive, risk; HLA-DRB1*15:01 additive, risk 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DQB1*06:02 dominant, risk; HLA-A*2:01 additive, protective; HLA-DPB1*03:01 additive, risk; HLA-DRB1*13:03:01 additive, risk; HLA-DQB1*02:01 additive, risk; HLA-DRB1*15:01 additive, risk 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population We identified three novel protective variants for MS across the extended MHC, one in the Hispanic sample (rs6929950, an intronic variant within OR5V1) and two in the African American sample (classical HLA-B*53:01 and rs760145, an intronic variant within HLA-F-AS1) 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population while HLA-DRB1*15:01 indicated the strongest additive association with MS risk in African Americans 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DRB1*15:01 dominant, risk; HLA-A*02:01 additive, protective; HLA-B*53:01 dominant, protective 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population HLA-DRB1*15:01 dominant, risk; HLA-A*02:01 additive, protective; HLA-B*53:01 dominant, protective 36548255 Details
Variants Homo sapiens MS HLA-C Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population We identified three novel protective variants for MS across the extended MHC, one in the Hispanic sample (rs6929950, an intronic variant within OR5V1) and two in the African American sample (classical HLA-B*53:01 and rs760145, an intronic variant within HLA-F-AS1) 36548255 Details
Variants Homo sapiens MS FCRL3 FcRL3 and multiple sclerosis pathogenesis: role in autoimmunity? An increased susceptibility associated to the -169 T allele was found when MS patients and controls were compared 17617473 Details
Variants Homo sapiens MS IL2RA Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population The frequency of the polymorphic T allele of rs7093069 was significantly higher (p = 0.0053) in the healthy control group compared to subjects with MS 33224992 Details
Variants Homo sapiens MS IL2RA Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population The frequency of allele T was significantly higher in the control healthy group than in the group of individuals with MS 33224992 Details
Variants Homo sapiens MS CTLA4 Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population Of the three polymorphisms tested in the CTLA4 gene, our study showed significant differences in allele and genotype frequencies only for rs3087243. 33224992 Details
Variants Homo sapiens MS CTLA4 Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population Of the three polymorphisms tested in the CTLA4 gene, our study showed significant differences in allele and genotype frequencies only for rs3087243. 33224992 Details
Variants Homo sapiens MS CTLA4 Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population Of the three polymorphisms tested in the CTLA4 gene, our study showed significant differences in allele and genotype frequencies only for rs3087243. 33224992 Details
Variants Homo sapiens MS CD40 Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population Our analysis of the rs1883832 polymorphisms in the CD40 gene did not show any significant differences in the homozygous genotypes and allele frequencies between the studied groups 33224992 Details
Variants Homo sapiens MS PADI4 Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population We did not observe any significant differences between the studied groups in the frequencies of alleles and the genotypes of rs1748033 in the PADI4 gene 33224992 Details
Variants Homo sapiens MS HLA-DRB1 Western versus Asian types of multiple sclerosis: immunogenetically and clinically distinct disorders the DR2-associated DRB1*1501 allele and DRB5*0101 allele were associated with Western-type MS (41.2%), but not with either Asian-type MS (0%) or healthy control subjects (14.2%) 8871575 Details
Variants Homo sapiens MS HLA-DRB5 Western versus Asian types of multiple sclerosis: immunogenetically and clinically distinct disorders the DR2-associated DRB1*1501 allele and DRB5*0101 allele were associated with Western-type MS (41.2%), but not with either Asian-type MS (0%) or healthy control subjects (14.2%) 8871575 Details
Variants Homo sapiens MS APOE [Analysis of the association of allelic variants of apolypoprotein E and interleukin 1 beta genes with multiple sclerosis in ethnic Tatars] Thus, our results show that APOE gene polymor-phism is associated with the risk of MS development inethnic Tatars 18664147 Details
Variants Homo sapiens MS APOE [Analysis of the association of allelic variants of apolypoprotein E and interleukin 1 beta genes with multiple sclerosis in ethnic Tatars] Thus, our results show that APOE gene polymor-phism is associated with the risk of MS development inethnic Tatars 18664147 Details
Variants Homo sapiens MS IL1B [Analysis of the association of allelic variants of apolypoprotein E and interleukin 1 beta genes with multiple sclerosis in ethnic Tatars] Further-more, our data suggest the importance of –511T/C poly-morphism of IL1B gene in the predisposition for theMS development 18664147 Details
Variants Homo sapiens MS HLA-DRB1 EVI5 is a risk gene for multiple sclerosis The HLA-DRB1 surrogate SNP (rs3135388) was significantly associated with MS in this study 18401352 Details
Variants Homo sapiens MS EVI5 EVI5 is a risk gene for multiple sclerosis Furthermore, two SNPs, both on chromosome 1,located in the EVI5 (ecotropic viral integration site 5) gene gave significant P-values in our replication study:rs10735781 (P0.01, OR2.01, 95% CI 1.19–3.39) andrs6680578 (P0.01, OR1.9, 95% CI 1.16–3.11). 18401352 Details
Variants Homo sapiens MS EVI5 EVI5 is a risk gene for multiple sclerosis Furthermore, two SNPs, both on chromosome 1,located in the EVI5 (ecotropic viral integration site 5) gene gave significant P-values in our replication study:rs10735781 (P0.01, OR2.01, 95% CI 1.19–3.39) andrs6680578 (P0.01, OR1.9, 95% CI 1.16–3.11). 18401352 Details
Variants Homo sapiens MS IL7R EVI5 is a risk gene for multiple sclerosis The IL7RA rs689732 and for IL2RA rs12722489 and rs2104286,SNPs were not significantly associated with MS 18401352 Details
Variants Homo sapiens MS IL2RA EVI5 is a risk gene for multiple sclerosis The IL7RA rs689732 and for IL2RA rs12722489 and rs2104286,SNPs were not significantly associated with MS 18401352 Details
Variants Homo sapiens MS IL2RA EVI5 is a risk gene for multiple sclerosis The IL7RA rs689732 and for IL2RA rs12722489 and rs2104286,SNPs were not significantly associated with MS 18401352 Details
Variants Homo sapiens MS EVI5 EVI5 is a risk gene for multiple sclerosis Furthermore, two SNPs, both on chromosome 1,located in the EVI5 (ecotropic viral integration site 5) gene gave significant P-values in our replication study:rs10735781 (P0.01, OR2.01, 95% CI 1.19–3.39) andrs6680578 (P0.01, OR1.9, 95% CI 1.16–3.11). 18401352 Details
Variants Homo sapiens MS EVI5 EVI5 is a risk gene for multiple sclerosis Furthermore, two SNPs, both on chromosome 1,located in the EVI5 (ecotropic viral integration site 5) gene gave significant P-values in our replication study:rs10735781 (P0.01, OR2.01, 95% CI 1.19–3.39) andrs6680578 (P0.01, OR1.9, 95% CI 1.16–3.11). 18401352 Details
Variants Homo sapiens MS CD58 Protective C allele of the single-nucleotide polymorphism rs1335532 is associated with strong binding of Ascl2 transcription factor and elevated CD58 expression in B-cells CD58 enhancer 2 containing SNP rs1335532 demonstrated 2-fold up-regulating effect on CD58 promoter activity 3006149 Details
Variants Homo sapiens MS CD58 Protective C allele of the single-nucleotide polymorphism rs1335532 is associated with strong binding of Ascl2 transcription factor and elevated CD58 expression in B-cells CD58 enhancer 1 region containing rs2300747 did not influence CD58 promoter activity, which indicates the absence of its enhancer function 3006149 Details
Variants Homo sapiens MS APOE Apolipoprotein E genotype related differences in brain lesions of multiple sclerosis Comparison between carriers of at least one ε4 allele to the remainder of the study population confirmed a trend towards a higher T2-LL (15.1 (SD 13.7) v 10.4 (SD 9.2) cm3, p=0.24) and a significantly greater T1-LL (2.4 (SD 3.2) v 1.3 (SD 2.8) cm3, p=0.044) and black hole ratio (13.3 (SD 11.8)v 8.3 (SD 12.5)%, p=0.024) in ε4 patients (figure A–C). 10864599 Details
Variants Homo sapiens MS APOE Apolipoprotein E genotype related differences in brain lesions of multiple sclerosis Comparison between carriers of at least one ε4 allele to the remainder of the study population confirmed a trend towards a higher T2-LL (15.1 (SD 13.7) v 10.4 (SD 9.2) cm3, p=0.24) and a significantly greater T1-LL (2.4 (SD 3.2) v 1.3 (SD 2.8) cm3, p=0.044) and black hole ratio (13.3 (SD 11.8)v 8.3 (SD 12.5)%, p=0.024) in ε4 patients (figure A–C). 10864599 Details
Variants Homo sapiens MS APOE Apolipoprotein E genotype related differences in brain lesions of multiple sclerosis Comparison between carriers of at least one ε4 allele to the remainder of the study population confirmed a trend towards a higher T2-LL (15.1 (SD 13.7) v 10.4 (SD 9.2) cm3, p=0.24) and a significantly greater T1-LL (2.4 (SD 3.2) v 1.3 (SD 2.8) cm3, p=0.044) and black hole ratio (13.3 (SD 11.8)v 8.3 (SD 12.5)%, p=0.024) in ε4 patients (figure A–C). 10864599 Details
Variants Homo sapiens MS TNF Tumor necrosis factor-alpha gene polymorphisms in children with multiple sclerosis The genotypes and allele frequencies were not different between patient and control groups 11571703 Details
Variants Homo sapiens MS TNF Tumor necrosis factor-alpha gene polymorphisms in children with multiple sclerosis The genotypes and allele frequencies were not different between patient and control groups 11571703 Details
Variants Homo sapiens MS IL10 Promoter polymorphism of IL-10 and severity of multiple sclerosis The AG genotype of IL-10 proved to be protective against severe MS in all patients (OR=0.32, P=0.010), the effect being increased over the years 14616291 Details
Variants Homo sapiens MS TAP1 TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP No significant differences in the frequencies of TAP polymorphisms were observed between both groups 7929801 Details
Variants Homo sapiens MS TAP1 TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP No significant differences in the frequencies of TAP polymorphisms were observed between both groups 7929801 Details
Variants Homo sapiens MS TAP2 TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP No significant differences in the frequencies of TAP polymorphisms were observed between both groups 7929801 Details
Variants Homo sapiens MS TAP2 TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP No significant differences in the frequencies of TAP polymorphisms were observed between both groups 7929801 Details
Variants Homo sapiens MS TAP2 TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP No significant differences in the frequencies of TAP polymorphisms were observed between both groups 7929801 Details
Variants Homo sapiens MS TNF Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis In MS, a statistically significant increase of A at position -376 in the TNFA gene was observed 10522904 Details
Variants Homo sapiens MS TNF Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis whereas no significant differences were found with -238 and -308 genotype or allele frequencies 10522904 Details
Variants Homo sapiens MS TNF Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis whereas no significant differences were found with -238 and -308 genotype or allele frequencies 10522904 Details
Variants Homo sapiens MS TNF TNF-alpha polymorphisms in multiple sclerosis: no association with -238 and -308 promoter alleles, but the microsatellite allele a11 is associated with the disease in French patients No significant differences regarding the TNF-alpha -238 and -308 polymorphisms were observed between MS patients and controls. 10773851 Details
Variants Homo sapiens MS TNF TNF-alpha polymorphisms in multiple sclerosis: no association with -238 and -308 promoter alleles, but the microsatellite allele a11 is associated with the disease in French patients No significant differences regarding the TNF-alpha -238 and -308 polymorphisms were observed between MS patients and controls. 10773851 Details
Variants Homo sapiens MS TNF TNF-alpha polymorphisms in multiple sclerosis: no association with -238 and -308 promoter alleles, but the microsatellite allele a11 is associated with the disease in French patients Allele frequency for the a11 allele is in very significant association (P<0.0001) with MS 10773851 Details
Variants Homo sapiens MS MBP Myelin basic protein gene polymorphism is not associated with chronic progressive multiple sclerosis Our results indicate that there is no association between MS and a polymorphism 5' to the MBP gene 7515903 Details
Variants Homo sapiens MS APOE Association of APOE polymorphisms with disease severity in MS is limited to women Women carriers of the E4*epsilon2 allele took longer to attain an Expanded Disability Status Scale score of 6 (p = 0.015) and had more favorable ranked severity scores than noncarriers 15007140 Details
Variants Homo sapiens MS APOE Association of APOE polymorphisms with disease severity in MS is limited to women There was no association in men. Alleles epsilon3 or epsilon4 and promoter polymorphisms were not associated with disease course or severity. 15007140 Details
Variants Homo sapiens MS APOE Association of APOE polymorphisms with disease severity in MS is limited to women There was no association in men. Alleles epsilon3 or epsilon4 and promoter polymorphisms were not associated with disease course or severity. 15007140 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis HLA-DRB1*14-, HLA-DRB1*11-, HLA-DRB1*01-, and HLA-DRB1*10-bearing haplotypes are protective overall but they appear to operate by different mechanisms. 17845076 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis HLA-DRB1*14-, HLA-DRB1*11-, HLA-DRB1*01-, and HLA-DRB1*10-bearing haplotypes are protective overall but they appear to operate by different mechanisms. 17845076 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis HLA-DRB1*14-, HLA-DRB1*11-, HLA-DRB1*01-, and HLA-DRB1*10-bearing haplotypes are protective overall but they appear to operate by different mechanisms. 17845076 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis HLA-DRB1*14-, HLA-DRB1*11-, HLA-DRB1*01-, and HLA-DRB1*10-bearing haplotypes are protective overall but they appear to operate by different mechanisms. 17845076 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis We confirm that HLA-DRB1*15- and HLA-DRB1*17-bearing haplotypes increase risk of MS 17845076 Details
Variants Homo sapiens MS HLA-DRB1 The Inheritance of Resistance Alleles in Multiple Sclerosis We confirm that HLA-DRB1*15- and HLA-DRB1*17-bearing haplotypes increase risk of MS 17845076 Details
Variants Homo sapiens MS CIITA Variability in the CIITA gene interacts with HLA in multiple sclerosis A significant association ofrs4774 (P0.01) was discovered in this analysis;In a logistic regression model with age as a covariate, the association with MS remained for rs4774 24430172 Details
Variants Homo sapiens MS HLA-DRB1 Variability in the CIITA gene interacts with HLA in multiple sclerosis We find that the previously investigated single-nucleotide polymorphism rs4774 is associated with MS risk in cases carrying the HLA-DRB1*15 allele 24430172 Details
Variants Homo sapiens MS MMP9 Matrix metalloproteases 9 rs3918242 gene polymorphism and serum vit D in MS Egyptian patients In conclusion, MMP9 genotypes of rs3918242 have a role in MS susceptibility, but not with severity 31082619 Details
Variants Homo sapiens MS PRRC2A Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population Genotype AT of rs2844470 and AG of rs2242659 increased risk susceptibility for AQP4+ NMOSD and MS 32862241 Details
Variants Homo sapiens MS PRRC2A Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population Genotype AT of rs2844470 and AG of rs2242659 increased risk susceptibility for AQP4+ NMOSD and MS 32862241 Details
Variants Homo sapiens MS PRRC2A Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population we identified various gene expression levels in disease-related regions that are significantly modulated by three cis-eQTL SNPs rs2736157, rs2736171 and rs2242659 32862241 Details
Variants Homo sapiens MS PRRC2A Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population we identified various gene expression levels in disease-related regions that are significantly modulated by three cis-eQTL SNPs rs2736157, rs2736171 and rs2242659 32862241 Details
Variants Homo sapiens MS CD58 Analysis of herpesvirus infection and genome single nucleotide polymorphism risk factors in multiple sclerosis, Volga federal district, Russia We also confirmed higher frequency of A and C alleles in rs2300747 and rs12044852 of CD58 gene and G allele in rs929230 of CD6 gene in MS as compared to controls 36451826 Details
Variants Homo sapiens MS CD58 Analysis of herpesvirus infection and genome single nucleotide polymorphism risk factors in multiple sclerosis, Volga federal district, Russia We also confirmed higher frequency of A and C alleles in rs2300747 and rs12044852 of CD58 gene and G allele in rs929230 of CD6 gene in MS as compared to controls 36451826 Details
Variants Homo sapiens MS CD6 Analysis of herpesvirus infection and genome single nucleotide polymorphism risk factors in multiple sclerosis, Volga federal district, Russia We also confirmed higher frequency of A and C alleles in rs2300747 and rs12044852 of CD58 gene and G allele in rs929230 of CD6 gene in MS as compared to controls 36451826 Details
Variants Homo sapiens MS VDR Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults We found a positive association of the genetic VDR polymorphisms TaqI (rs731236) and BsmI (rs1544410), with the risk of MS in a sample of Mexican adults 28385183 Details
Variants Homo sapiens MS VDR Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults We found a positive association of the genetic VDR polymorphisms TaqI (rs731236) and BsmI (rs1544410), with the risk of MS in a sample of Mexican adults 28385183 Details
Variants Homo sapiens MS AGER A functional p.82G>S polymorphism in the RAGE gene is associated with multiple sclerosis in the Chinese population The present study provides preliminary evidence that the gain-of-function p.82G>S polymorphism in the RAGE gene is associated with an increased risk of MS in the Chinese population 21511691 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS NOS2 NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms No significant association between cases and controls (P>0.05) was observed for the alleles of the SNPs 21376344 Details
Variants Homo sapiens MS VEGFA The Importance of VEGF-KDR Signaling Pathway Genes should Not Be Ignored When the Risk of Developing Multiple Sclerosis is Taken into Consideration VEGF 936C > T showed an association with patients in a recessive model 28401369 Details
Variants Homo sapiens MS KDR The Importance of VEGF-KDR Signaling Pathway Genes should Not Be Ignored When the Risk of Developing Multiple Sclerosis is Taken into Consideration the KDR -604T > C (rs2071559) polymorphism showed no significant difference in either allelic or genotype frequency between the two groups 28401369 Details
Variants Homo sapiens MS IL17F IL-17F but not IL-17A gene polymorphism confers risk to multiple sclerosis in a Chinese Han population A significantly increased frequency of rs763780 TT genotype 24857622 Details
Variants Homo sapiens MS IL17A IL-17F but not IL-17A gene polymorphism confers risk to multiple sclerosis in a Chinese Han population The genotypic and allelic frequencies of rs2275913 in IL-17A gene were not different between patients with MS and controls 24857622 Details
Variants Homo sapiens MS MTHFR Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population We found no association between polymorphisms of a folate-homocysteine-methionine-SAM metabolising gene enzyme and multiple sclerosis in a Polish population 31145465 Details
Variants Homo sapiens MS MTHFR Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population We found no association between polymorphisms of a folate-homocysteine-methionine-SAM metabolising gene enzyme and multiple sclerosis in a Polish population 31145465 Details
Variants Homo sapiens MS VDR ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks our data suggest that VDR gene polymorphisms ApaI, BsmI and TaqI are not useful in the prediction of disease disability progression rate in MS in Slovaks 27338176 Details
Variants Homo sapiens MS VDR ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks our data suggest that VDR gene polymorphisms ApaI, BsmI and TaqI are not useful in the prediction of disease disability progression rate in MS in Slovaks 27338176 Details
Variants Homo sapiens MS VDR ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks our data suggest that VDR gene polymorphisms ApaI, BsmI and TaqI are not useful in the prediction of disease disability progression rate in MS in Slovaks 27338176 Details
Variants Homo sapiens MS VDR ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks We showed for the first time that BsmI genotype BB (AA) is associated with the decreased susceptibility to MS in Slovak population 27338176 Details
Variants Homo sapiens MS FAS Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS clinical severity showed a significant association between the genotype and either the proportion of active lesions (rs2234978/FAS and rs11957313/KCNIP1) or the proportion of mixed active/inactive lesions (rs8056098/CLEC16A) 31228212 Details
Variants Homo sapiens MS KCNIP1 Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS clinical severity showed a significant association between the genotype and either the proportion of active lesions (rs2234978/FAS and rs11957313/KCNIP1) or the proportion of mixed active/inactive lesions (rs8056098/CLEC16A) 31228212 Details
Variants Homo sapiens MS CLEC16A Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS clinical severity showed a significant association between the genotype and either the proportion of active lesions (rs2234978/FAS and rs11957313/KCNIP1) or the proportion of mixed active/inactive lesions (rs8056098/CLEC16A) 31228212 Details
Variants Homo sapiens MS MOG Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS pathology-associated genes showed a significant association with either proportion of active lesions (rs3130253/MOG), incidence of cortical gray matter lesions (rs1064395/NCAN) or the proportion of remyelinated lesions (rs5742909/CTLA4) 31228212 Details
Variants Homo sapiens MS NCAN Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS pathology-associated genes showed a significant association with either proportion of active lesions (rs3130253/MOG), incidence of cortical gray matter lesions (rs1064395/NCAN) or the proportion of remyelinated lesions (rs5742909/CTLA4) 31228212 Details
Variants Homo sapiens MS CTLA4 Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms Three SNPs linked to MS pathology-associated genes showed a significant association with either proportion of active lesions (rs3130253/MOG), incidence of cortical gray matter lesions (rs1064395/NCAN) or the proportion of remyelinated lesions (rs5742909/CTLA4) 31228212 Details
Variants Homo sapiens MS FAS Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms rs2234978/FAS T-allele carriers showed increased FAS gene expression levels in perivascular T cells and perilesional oligodendrocytes 31228212 Details
Variants Homo sapiens MS PLXNA3 PLXNA3 Variant rs5945430 is Associated with Severe Clinical Course in Male Multiple Sclerosis Patients Genotyping of 187 MS patients for rs5945430 confirmed the association of rs5945430G with increased disease severity in MS males 28536997 Details
Variants Homo sapiens MS CD58 High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case-control study Concerning rs2300747 polymorphism on CD58 gene, no significant differences were found between cases and controls 30128676 Details
Variants Homo sapiens MS CD226 High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case-control study Our finding showed that there are significant differences in genotype and allele frequencies between two groups regarding rs763361 (P = 0.035, OR 0.64, CI 95% for C allele) and rs1611715 (P = 0.038, OR 1.57, CI 95% for AA genotype) polymorphisms within CD226 and HLA-G genes 30128676 Details
Variants Homo sapiens MS HLA-G High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case-control study Our finding showed that there are significant differences in genotype and allele frequencies between two groups regarding rs763361 (P = 0.035, OR 0.64, CI 95% for C allele) and rs1611715 (P = 0.038, OR 1.57, CI 95% for AA genotype) polymorphisms within CD226 and HLA-G genes 30128676 Details
Variants Homo sapiens MS HLA-C Refining the association of MHC with multiple sclerosis in African Americans Two MHC class II SNPs, rs2647040 and rs3135021, were significant in the replication cohort and partially tagged DRB1*15 alleles. 20466734 Details
Variants Homo sapiens MS HLA-C Refining the association of MHC with multiple sclerosis in African Americans Two MHC class II SNPs, rs2647040 and rs3135021, were significant in the replication cohort and partially tagged DRB1*15 alleles. 20466734 Details
Variants Homo sapiens MS TYK2 Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor we found that evidence for association was substantially increased for one of the 17 loci, rs34536443 from the tyrosine kinase 2 (TYK2) gene (P=2.7 x 10(-6), odds ratio=1.32 (1.17-1.47)) 19293837 Details
Variants Homo sapiens MS CYP2R1 Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study Carriers of GA + AA genotypes of CYP2R1 rs10766197 had an increased risk of MS 34977256 Details
Variants Homo sapiens MS CYP27B1 Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study No differences were observed in the frequency of T allele of CYP27B1 rs10877012ï¼›No increased risk was observed in GT + TT genotypes of CYP27B1 rs10877012 34977256 Details
Variants Homo sapiens MS GAS5 LncRNA GAS5 and miR-137 Polymorphisms and Expression are Associated with Multiple Sclerosis Risk: Mechanistic Insights and Potential Clinical Impact The rs2067079TT minor homozygote genotype was associated with an increased MS risk, while the rs1625579G minor allele was protectiveï¼›rs1625579 showed an age-specific effect, while the rs2067079 affected the MS risk in gender- and age-specific manners 32348112 Details
Variants Homo sapiens MS MIR137 LncRNA GAS5 and miR-137 Polymorphisms and Expression are Associated with Multiple Sclerosis Risk: Mechanistic Insights and Potential Clinical Impact The rs2067079TT minor homozygote genotype was associated with an increased MS risk, while the rs1625579G minor allele was protectiveï¼›rs1625579 showed an age-specific effect, while the rs2067079 affected the MS risk in gender- and age-specific manners 32348112 Details
Variants Homo sapiens MS HLA-DRB1 Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis Although significant associations with both HLA-DRB1 and HLA-DRB5 loci were present, HLA-DRB1*1503 was associated with MS in the absence of HLA-DRB5, providing evidence for HLA-DRB1 as the primary susceptibility gene 18832704 Details
Variants Homo sapiens MS HLA-DRB5 Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis the HLA-DRB5*null subjects appear to be at increased risk for developing secondary progressive MS 18832704 Details
Variants Homo sapiens MS AGER Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis Both AGER SNPs showed evidence for association when conditioned on the DRB1 genotype using WHAP (p < 0.01 for rs1035798 in African Americans and p < 0.0001 for rs2070600 in whites, data not shown), which were similar to results shown for the conditional haplotype analysis (Tables IV and andVI).VI). This is compatible with independent contributions from both AGER and DRB1 to MS susceptibility 18832704 Details
Variants Homo sapiens MS AGER Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis Both AGER SNPs showed evidence for association when conditioned on the DRB1 genotype using WHAP (p < 0.01 for rs1035798 in African Americans and p < 0.0001 for rs2070600 in whites, data not shown), which were similar to results shown for the conditional haplotype analysis (Tables IV and andVI).VI). This is compatible with independent contributions from both AGER and DRB1 to MS susceptibility 18832704 Details
Variants Homo sapiens MS TBATAp Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis We found the association of rs2791196 with the MS group and RRMS patients 18208870 Details
Variants Homo sapiens MS TBATAp Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis At rs2254174,both T and TT were associated with PPMS after comparisons with RRMS,and negative associations were found for PPMS patients carrying the TC genotype 18208870 Details
Variants Homo sapiens MS TBATAp Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis A modest excess of CA heterozygocity at rs12221473 in male patients with RRMS supports the indications of gender differences in genetic susceptibility for MS 18208870 Details
Variants Homo sapiens MS HIF1A The evaluation of VEGF and HIF-1α gene polymorphisms and multiple sclerosis susceptibility our results do not show a significant association between MS and HIF-1α polymorphisms 31652374 Details
Variants Homo sapiens MS VEGFA The evaluation of VEGF and HIF-1α gene polymorphisms and multiple sclerosis susceptibility we showed a significant relationship between the VEGF rs699947 polymorphism and MS in a dominant inheritance model 31652374 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis The frequency of HLA-DRB1 * 1501 allele in the Western-type MS group increased significantly compared with the control group, while Asian-type MS and control groups showed similar distribution in the frequencies of HLA-DRB1 alleles 9916885 Details
Variants Homo sapiens MS TNF Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis We found a significant association between exon 10 nt 1668*T-->G polymorphism and susceptibility to MS 14651520 Details
Variants Homo sapiens MS TNF Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS 14651520 Details
Variants Homo sapiens MS TNF Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS 14651520 Details
Variants Homo sapiens MS TNF Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS 14651520 Details
Variants Homo sapiens MS TNF Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS 14651520 Details
Variants Homo sapiens MS APOE Lower levels of N-acetylaspartate in multiple sclerosis patients with the apolipoprotein E epsilon4 allele During follow-up, the drop in the N-acetylaspartate-creatine ratio of epsilon4 carriers was also significantly larger (-0.31 vs -0.10; P =.01) 12533090 Details
Variants Homo sapiens MS IL1B Production of IL-1beta and IL-1Ra as risk factors for susceptibility and progression of relapse-onset multiple sclerosis Taq1 polymorphism in the IL-1beta gene and the variable number of tandem repeats (VNTR) polymorphism of 86-base pairs within the IL-1Ra gene cannot explain these findings 12020968 Details
Variants Homo sapiens MS IL1RN Production of IL-1beta and IL-1Ra as risk factors for susceptibility and progression of relapse-onset multiple sclerosis Taq1 polymorphism in the IL-1beta gene and the variable number of tandem repeats (VNTR) polymorphism of 86-base pairs within the IL-1Ra gene cannot explain these findings 12020968 Details
Variants Homo sapiens MS CYP27B1 Confirmation of association between multiple sclerosis and CYP27B1 Three SNPs genotyped in the Swedish cohorts were associated with MS, rs4646536, rs10877012 and rs10877015 20648053 Details
Variants Homo sapiens MS CYP27B1 Confirmation of association between multiple sclerosis and CYP27B1 Three SNPs genotyped in the Swedish cohorts were associated with MS, rs4646536, rs10877012 and rs10877015 20648053 Details
Variants Homo sapiens MS CYP27B1 Confirmation of association between multiple sclerosis and CYP27B1 Three SNPs genotyped in the Swedish cohorts were associated with MS, rs4646536, rs10877012 and rs10877015 20648053 Details
Variants Homo sapiens MS CYP27B1 Confirmation of association between multiple sclerosis and CYP27B1 We imputed rs703842 SNP and performed a joint analysis with the ANZgene results, reaching a significant association for rs703842 20648053 Details
Variants Homo sapiens MS CTLA4 Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism Those MS patients with AA and AG genotypes had 4.36 times greater risk of progressing from the relapsing-remitting to the secondary progressive form of the disease than those with the GG genotype 15180809 Details
Variants Homo sapiens MS TNF TNF-alpha promoter polymorphisms, production and susceptibility to multiple sclerosis in different groups of patients These results suggest that the -238 GG genotype is differently distributed in hospitalized MS patients in a nursing home;The -238 G to A polymorphism is differently distributed in hospitalized MS patients in a nursing home compared to healthy controls 9042107 Details
Variants Homo sapiens MS IL2RA IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production The most associated IL2RA SNP for MS susceptibility is rs2104286 located in intron 1 of IL2RA 19119414 Details
Variants Homo sapiens MS CD40 Association of SNPs of CD40 gene with multiple sclerosis in Russians In our study, both SNPs rs6074022 and rs1883832 were significantly associated with MS 23613777 Details
Variants Homo sapiens MS CD40 Association of SNPs of CD40 gene with multiple sclerosis in Russians In our study, both SNPs rs6074022 and rs1883832 were significantly associated with MS 23613777 Details
Variants Homo sapiens MS CD40 Association of SNPs of CD40 gene with multiple sclerosis in Russians Neither rs1535045 nor rs11086998 was associated with MS 23613777 Details
Variants Homo sapiens MS CD40 Association of SNPs of CD40 gene with multiple sclerosis in Russians Neither rs1535045 nor rs11086998 was associated with MS 23613777 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS HAVCR1 Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls 20070602 Details
Variants Homo sapiens MS CYP27B1 Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction a significant interaction was observed between winter sun exposure during childhood, genotype at rs11574010 19383647 Details
Variants Homo sapiens MS CYP27B1 Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction No significant interactions were observed for either rs10735810 or rs731236, after stratification by sun exposure 19383647 Details
Variants Homo sapiens MS CYP27B1 Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction No significant interactions were observed for either rs10735810 or rs731236, after stratification by sun exposure 19383647 Details
Variants Homo sapiens MS ICAM1 Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations 12590979 Details
Variants Homo sapiens MS ICAM1 Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiple sclerosis An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations 12590979 Details
Variants Homo sapiens MS IFNAR1 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR1 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR1 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR1 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR1 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR2 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR2 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS IFNAR2 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis 12618863 Details
Variants Homo sapiens MS CASP9 CASP-9: A susceptibility locus for multiple sclerosis in Italy Our results suggest that the presence of the G/G genotype represents a higher risk factor in our MS population and a differential production of CASP-9 might be a contributory factor in determining the severity of MS 19359048 Details
Variants Homo sapiens MS RORA The efficacy of interferon-beta therapy in multiple sclerosis patients: investigation of the RORA gene as a predictive biomarker The obtained result of the current study showed a significant association between nonresponsiveness and the rs4774388 in dominant model 31649263 Details
Variants Homo sapiens MS RORA The efficacy of interferon-beta therapy in multiple sclerosis patients: investigation of the RORA gene as a predictive biomarker However, the allele and genotype frequencies of rs11639084 were not different between controls, nonresponder, and responder patients 31649263 Details
Variants Homo sapiens MS DBP No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS no association was observed between the DBP polymorphisms and the age at disease onset 12044990 Details
Variants Homo sapiens MS DBP No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS no association was observed between the DBP polymorphisms and the age at disease onset 12044990 Details
Variants Homo sapiens MS IL4R Analysis of interleukin-4 receptor alpha chain variants in multiple sclerosis However, further analysis of all 341 MS patients did not confirm the finding that this IL4R variant represents a general genetic risk factor for MS .After correction for multiple comparisons only the genotype differences between PPMS patients and healthy controls remained statistically significant 11164908 Details
Variants Homo sapiens MS HLA-DRB1 Interaction of HLA-DRB1*1501 allele and TNF-alpha -308 G/A single nucleotide polymorphism in the susceptibility to multiple sclerosis HLA-DRB1*1501 allele was more frequent among patients 21396892 Details
Variants Homo sapiens MS TNF Interaction of HLA-DRB1*1501 allele and TNF-alpha -308 G/A single nucleotide polymorphism in the susceptibility to multiple sclerosis TNF-α -308 G allele and G/G genotype had higher frequency among MS patients than control subjects 21396892 Details
Variants Homo sapiens MS CYP27B1 Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in the Azeri Population of Iran In MS patients, genotype bb was significantly higher than the healthy controls 32914731 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study rs6330 showed significant association in allele (p = 0.0038; OR = 1.210 (1.063–1.377)) and genotype frequencies (p = 0.0126) when comparing healthy controls and MS patients 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study 23 male MS patients were characterized via quantitative RT-PCR after selection for opposite homozygosity in rs11102930: No correlation was observed between genotypes and expression levels 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Subsequent genotyping of three flanking SNPs (rs6327, rs7523831 and rs11102915) in subgroups of our cohorts of 263 rr MS patients and 259 controls showed no additional significant association 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Subsequent genotyping of three flanking SNPs (rs6327, rs7523831 and rs11102915) in subgroups of our cohorts of 263 rr MS patients and 259 controls showed no additional significant association 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Subsequent genotyping of three flanking SNPs (rs6327, rs7523831 and rs11102915) in subgroups of our cohorts of 263 rr MS patients and 259 controls showed no additional significant association 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study No significant association was found for SNPs rs2239622 and rs910330 flanking exon 2 in the subgroups of our cohorts 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study No significant association was found for SNPs rs2239622 and rs910330 flanking exon 2 in the subgroups of our cohorts 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Analyses of three flanking SNPs, rs3811014, rs17540656 and rs6673867 in the defined subgroups showed no significant association for male MS patients compared to healthy male controls as well as no significant association between female MS patients and female controls 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Analyses of three flanking SNPs, rs3811014, rs17540656 and rs6673867 in the defined subgroups showed no significant association for male MS patients compared to healthy male controls as well as no significant association between female MS patients and female controls 19063739 Details
Variants Homo sapiens MS NGF Genomic NGFB variation and multiple sclerosis in a case control study Analyses of three flanking SNPs, rs3811014, rs17540656 and rs6673867 in the defined subgroups showed no significant association for male MS patients compared to healthy male controls as well as no significant association between female MS patients and female controls 19063739 Details
Variants Homo sapiens MS CD24 CD24 gene polymorphism is associated with the disease progression and susceptibility to multiple sclerosis in the Iranian population Our data revealed that the susceptibility and the progression of MS in individuals with the CD24V/V genotype were greater than in those with the CD24A/V and CD24A/A genotypes 19896210 Details
Variants Homo sapiens MS CD24 CD24 gene polymorphism is associated with the disease progression and susceptibility to multiple sclerosis in the Iranian population Our data revealed that the susceptibility and the progression of MS in individuals with the CD24V/V genotype were greater than in those with the CD24A/V and CD24A/A genotypes 19896210 Details
Variants Homo sapiens MS CD24 CD24 gene polymorphism is associated with the disease progression and susceptibility to multiple sclerosis in the Iranian population Our data revealed that the susceptibility and the progression of MS in individuals with the CD24V/V genotype were greater than in those with the CD24A/V and CD24A/A genotypes 19896210 Details
Variants Homo sapiens MS ACE Angiotensin-converting enzyme I/D gene polymorphism and risk of multiple sclerosis DD genotype of ACE gene might contribute to a higher risk of developing MS in men 17083336 Details
Variants Homo sapiens MS STMN1 Analysis of the stathmin rs182455 single nucleotide promoter polymorphism in patients with multiple sclerosis the rs182455 polymorphism does not influence MS susceptibility or clinical disease course 19012073 Details
Variants Homo sapiens MS NR3C1 A glucocorticoid receptor gene haplotype (TthIII1/ER22/23EK/9beta) is associated with a more aggressive disease course in multiple sclerosis Haplotype 6 (TthIIII, ER2223EK, and 9beta-G) was associated with a more rapid disease progression 19318444 Details
Variants Homo sapiens MS TNFAIP3 Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort We found significant association of rs10499194, located in the intergenic region upstream of TNFAIP3, with MS 25684197 Details
Variants Homo sapiens MS TNFAIP3 Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort while rs69202220 and rs5029939 were less stronglu associated 25684197 Details
Variants Homo sapiens MS TNFAIP3 Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort while rs69202220 and rs5029939 were less stronglu associated 25684197 Details
Variants Homo sapiens MS TNFAIP3 Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort and rs6922466 did not show association with MS 25684197 Details
Variants Homo sapiens MS TNFRSF1A Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort the intronic SNP rs1800693 in TNFRSF1A showed moderate association with MS 25684197 Details
Variants Homo sapiens MS TNFRSF1A Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort while rs4149584 and R92Q did not show association with MS 25684197 Details
Variants Homo sapiens MS TNFRSF1A Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort the intronic SNP rs1800693 in TNFRSF1A showed moderate association with MS 25684197 Details
Variants Homo sapiens MS PHGDH MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis After FDR correction, we found a significant influence of the TT genotype of the rs666930 SNP (located in the phosphoglycerate dehydrogenase gene —PHGDH) on baseline MKO3 and MAP2K1 phosphorylation in MS patients 31004050 Details
Variants Homo sapiens MS IRF8 MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis the CT genotype of the rs35929052 SNP [located on IFN regulatory factor 8 (IRF8) gene, a key target of vitamin D receptor; refs. 11 and 12] had a significant influence on MAP2K1 phosphorylation after stimulation with vitamin D3 31004050 Details
Variants Homo sapiens MS FOXP3 Circulating levels of interleukin-35 in patients with multiple sclerosis: evaluation of the influences of FOXP3 gene polymorphism and treatment program The frequencies of AA and AC genotypes at rs3761548 in the FOXP3 gene were significantly higher in MS group as compared with healthy subjects (P < 0.05). The frequency of CC genotype at rs3761548 was significantly lower in the MS group in comparison with healthy control subjects (P < 0.001). Moreover, the frequency of A allele was significantly higher whereas the frequency of C allele was significantly lower in MS patients in comparison to healthy subjects (P < 0.001) 25326790 Details
Variants Homo sapiens MS HFE HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis No significant association was found between HFE polymorphisms and disease susceptibility 20586792 Details
Variants Homo sapiens MS HFE HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis No significant association was found between HFE polymorphisms and disease susceptibility 20586792 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis HLA-DRB1*03 allele group was overrepresented in NMO patients compared with healthy controls 21396892 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis In contrast, the HLA-DRB1*15 allele group was overrepresented in Brazilian MS patients 21396892 Details
Variants Homo sapiens MS HLA-DRB3 HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis DRB3 was overrepresented in NM 21396892 Details
Variants Homo sapiens MS HLA-DRB5 HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis DRB5 overrepresented in MS patients 21396892 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease The HLA-A*0301 allele increases the risk of MS 10746785 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease The HLA-A*0301 allele increases the risk of MS 10746785 Details
Variants Homo sapiens MS CD40 [The effect of genetic factors on the phenotypic expression of multiple sclerosis] an C allele of rs6074022 polymorphism (CD40) was associated with a higher rate of MS progression 23528589 Details
Variants Homo sapiens MS CD40 [The effect of genetic factors on the phenotypic expression of multiple sclerosis] and the TT genotype of rs1535045 was associated with a slower progression of MS and early MS onset 23528589 Details
Variants Homo sapiens MS KIF1B [The effect of genetic factors on the phenotypic expression of multiple sclerosis] A more benign course and a higher frequency of an T allele of rs3135388 was found in familial cases compared to sporadic case 23528589 Details
Variants Homo sapiens MS VDR Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in South Eastern of Iran There were no significant differences in the polymorphism of FokI (rs2228570) in VDR gene among patients and controls 25854779 Details
Variants Homo sapiens MS VDR Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in South Eastern of Iran while a significant difference was observed in BsmI (rs1544410) polymorphism in healthy subjects and homozygous genotype-b/b- with MS 25854779 Details
Variants Homo sapiens MS PON1 Polymorphisms of paraoxonase 1 and 2 genes and the risk of multiple sclerosis in the Polish population According to our results, the PON1 and PON2 genotypes distribution did not differ between the MS patients and the controls 23487294 Details
Variants Homo sapiens MS PON1 Polymorphisms of paraoxonase 1 and 2 genes and the risk of multiple sclerosis in the Polish population According to our results, the PON1 and PON2 genotypes distribution did not differ between the MS patients and the controls 23487294 Details
Variants Homo sapiens MS PON1 Polymorphisms of paraoxonase 1 and 2 genes and the risk of multiple sclerosis in the Polish population According to our results, the PON1 and PON2 genotypes distribution did not differ between the MS patients and the controls 23487294 Details
Variants Homo sapiens MS PON2 Polymorphisms of paraoxonase 1 and 2 genes and the risk of multiple sclerosis in the Polish population According to our results, the PON1 and PON2 genotypes distribution did not differ between the MS patients and the controls 23487294 Details
Variants Homo sapiens MS AGER Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis Results indicate that rs1800624 polymorphism is not statistically significant in optic neuritis manifestation 34338585 Details
Variants Homo sapiens MS AGER Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis RAGE rs1800625 AA genotype decreases the risk of optic neuritis 34338585 Details
Variants Homo sapiens MS VDR Association of vitamin D receptor polymorphisms with vitamin D and calcium levels in Turkish multiple sclerosis patients No significant difference between VDR polymorphisms and MS risk was detected 35848285 Details
Variants Homo sapiens MS VDR Association of vitamin D receptor polymorphisms with vitamin D and calcium levels in Turkish multiple sclerosis patients No significant difference between VDR polymorphisms and MS risk was detected 35848285 Details
Variants Homo sapiens MS VDR Association of vitamin D receptor polymorphisms with vitamin D and calcium levels in Turkish multiple sclerosis patients No significant difference between VDR polymorphisms and MS risk was detected 35848285 Details
Variants Homo sapiens MS VDR Association of vitamin D receptor polymorphisms with vitamin D and calcium levels in Turkish multiple sclerosis patients No significant difference between VDR polymorphisms and MS risk was detected 35848285 Details
Variants Homo sapiens MS CTLA4 CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland We did not find any association with the promoter (-318 C/T) or intergenic CT60 SNPs in either of the disease cohorts 17524498 Details
Variants Homo sapiens MS CTLA4 CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland We did not find any association with the promoter (-318 C/T) or intergenic CT60 SNPs in either of the disease cohorts 17524498 Details
Variants Homo sapiens MS CTLA4 CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland Our data highlight the CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS 17524498 Details
Variants Homo sapiens MS CTLA4 CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland Our data highlight the CTLA4 +49 A/G and 3'UTR polymorphisms as potential modifiers of disease course in MS 17524498 Details
Variants Homo sapiens MS ESR1 Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism 12098649 Details
Variants Homo sapiens MS ESR1 Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism 12098649 Details
Variants Homo sapiens MS OAS1 OAS1 gene haplotype confers susceptibility to multiple sclerosis Haplotype but not single-marker analysis revealed an association of the haplotype created by the G allele at rs 10774671 and the A allele at rs 3741981 with the susceptibility to MS 17092260 Details
Variants Homo sapiens MS OAS1 OAS1 gene haplotype confers susceptibility to multiple sclerosis Haplotype but not single-marker analysis revealed an association of the haplotype created by the G allele at rs 10774671 and the A allele at rs 3741981 with the susceptibility to MS 17092260 Details
Variants Homo sapiens MS KIF1B Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort These results suggest that there is no effect in carrying the rs10492972 C variant on the risk of disease as well as on the rate of disability progression in a cohort of Italian patients with PPMS and patients with PRMS 20067515 Details
Variants Homo sapiens MS CYP7A1 Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS 23740208 Details
Variants Homo sapiens MS CYP7A1 Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS 23740208 Details
Variants Homo sapiens MS CYP7A1 Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS 23740208 Details
Variants Homo sapiens MS NFKB1 Relationship between NF-κB1 -94 ins/del ATTG polymorphism and susceptibility of multiple sclerosis in Iranian MS patients our study showed no association between -94 ins/del ATTG polymorphism and risk of multiple sclerosis in Iranian patients 23618653 Details
Variants Homo sapiens MS VDR FokI vitamin D receptor gene polymorphism in association with multiple sclerosis risk and disability progression in Slovaks Although our findings suggest a weak association between VDR SNP FokI and the MS risk in women 25376135 Details
Variants Homo sapiens MS MEFV Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls 23297013 Details
Variants Homo sapiens MS MEFV Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls 23297013 Details
Variants Homo sapiens MS MEFV Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls 23297013 Details
Variants Homo sapiens MS MEFV Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls 23297013 Details
Variants Homo sapiens MS MEFV Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls 23297013 Details
Variants Homo sapiens MS NFKBIL1 [Association study between exon 4 NFKBIL1 polymorphism and multiple sclerosis] lack of statistical significance in the two latter parameters suggests insufficient size of the patients and control groups, as the absolute percentage values were remarkably different 20568399 Details
Variants Homo sapiens MS HLA-G Association of the HLA-G gene polymorphism with multiple sclerosis in a Polish population ignificant differences were found only for the -725 promoter SNP. The -725C allele was significantly less frequent in the MS patients than in the controls, whereas the -725G allele was significantly more frequent in the MS patients than in the healthy subjects 20636826 Details
Variants Homo sapiens MS HLA-G Association of the HLA-G gene polymorphism with multiple sclerosis in a Polish population For the second promoter SNP, we observed a non-significant but clearly higher percentage of -716TGheterozygotes in the controls than in all patients andin those with the relapsing–remitting form of the dis-ease 20636826 Details
Variants Homo sapiens MS HLA-G Association of the HLA-G gene polymorphism with multiple sclerosis in a Polish population We observed a strong trend for association of 14bpindel polymorphism with ADO 20636826 Details
Variants Homo sapiens MS IL2 An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis. Our results showed no significant differences in the distribution of the two polymorphisms between MS patients and controls. Furthermore,no association was observed between IL-2 gene polymorphisms and clinical characteristics 12409183 Details
Variants Homo sapiens MS IL2 An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis. Our results showed no significant differences in the distribution of the two polymorphisms between MS patients and controls. Furthermore,no association was observed between IL-2 gene polymorphisms and clinical characteristics 12409183 Details
Variants Homo sapiens MS TLR9 T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population Our results show no significant association with MS and no protective effect of T-1237C concerning age of onset, disease severity or disease subtype in MS patients 18208876 Details
Variants Homo sapiens MS TRIOBP Novel Variants Identified in Multiple Sclerosis Patients From Southern China MS in southern China may have association with unique genetic variants,our data suggest TRIOBP as a potential novel risk gene. 30140248 Details
Variants Homo sapiens MS FCGR2A Investigation of Fcgamma RIIA and Fcgamma RIIIA Polymorphism in Multiple Sclerosis: A Case Control Study The results of the present study add the FcgammaRIIA gene to the gene networks which determine the severity of MS in southern Iran. 18698123 Details
Variants Homo sapiens MS CXCL8 Genetic regulation of IL-8 influences disease presentation of multiple sclerosis We describe for the first time a role of SNP rs2227306 of IL-8 gene in regulating the expression and the activity of this inflammatory cytokine in MS. 36803228 Details
Variants Homo sapiens MS BDNF BDNF Val66Met Polymorphism Is Associated With Motor Recovery After Rehabilitation in Progressive Multiple Sclerosis Patients BDNF Val66Met was associated with walking function improvement after rehabilitation in progressive MS patients. 35265024 Details
Variants Homo sapiens MS IL23A Circulating concentrations of interleukin (IL)-17 in patients with multiple sclerosis: Evaluation of the effects of gender, treatment, disease patterns and IL-23 receptor gene polymorphisms These results indicated higher levels of IL-17 in MS patients that may be influenced by disease patterns, medication and gender. No association was observed between investigated SNPs and MS. 28717429 Details
Variants Homo sapiens MS IL23A Circulating concentrations of interleukin (IL)-17 in patients with multiple sclerosis: Evaluation of the effects of gender, treatment, disease patterns and IL-23 receptor gene polymorphisms These results indicated higher levels of IL-17 in MS patients that may be influenced by disease patterns, medication and gender. No association was observed between investigated SNPs and MS. 28717429 Details
Variants Homo sapiens MS STAT4 STAT4 gene polymorphism in two major autoimmune diseases (multiple sclerosis and juvenile onset systemic lupus erythematosus) and its relation to disease severity STAT4 polymorphism was significantly associated with MS and JO-SLE. Though homozygous JO-SLE patients are more risky for severe disease manifestations, homozygous MS patients are not risky for severe disease disability. 29881250 Details
Variants Homo sapiens MS TNFRSF1A Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis Variant rs4149584 is associated with risk of developing MS. We analyzed its functional role in oligodendrocyte lineage cells and found an association with MS in homozygous carriers. 35963536 Details
Variants Homo sapiens MS AQP4 Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population Statistical analyses showed no significant associations between AQP4 SNPs/haplotypes and development of IDD, including MS and NMO (P>0.05). Further replications in larger cohorts and other ethnic groups are needed. 24361961 Details
Variants Homo sapiens MS CNR1 CB1 receptor affects cortical plasticity and response to physiotherapy in multiple sclerosis Our results provide the first evidence that genetic differences within the CB1R may influence clinical responses to exercise therapy, and they strengthen the hypothesis that CB1Rs are involved in the regulation of synaptic plasticity and in the control of spasticity in humans. 25520956 Details
Variants Homo sapiens MS CD14 Polymorphisms in CD14 Gene May Modify Soluble CD14 Levels and Represent Risk Factors for Multiple Sclerosis In summary, we conclude that CD14-159 and -260 polymorphisms are associated with the risk of MS in Iranian population and affects CD14 promoter activity, thereby regulating CD14 expression. 27819517 Details
Variants Homo sapiens MS IL18 Interleukin 18 Polymorphisms and its serum level in Patients with Multiple Sclerosis In this study, we showed the significant higher IL-18 serum level and significant different frequencies of two polymorphisms of IL-18 in MS patients. These results show the important roles of IL-18 in MS pathogenesis. However, more studies are needed to verify our results in larger sample size. 31736573 Details
Variants Homo sapiens MS IL-27 Potential Contribution of IL-27 and IL-23 Gene Polymorphisms to Multiple Sclerosis Susceptibility: An Association Analysis at Genotype and Haplotype Level The results of the current study showed a significant relationship of IL-27-A964G and IL-27-T4730C polymorphisms with increased risk of MS, and also the protective role of the IL-23-R381Q polymorphism. Moreover, the haplotype-based analysis proposed the mutant G-C (A924G, T4730C) as a significant risk haplotype for the development of MS. 35011777 Details
Variants Homo sapiens MS IL-27 Potential Contribution of IL-27 and IL-23 Gene Polymorphisms to Multiple Sclerosis Susceptibility: An Association Analysis at Genotype and Haplotype Level The results of the current study showed a significant relationship of IL-27-A964G and IL-27-T4730C polymorphisms with increased risk of MS, and also the protective role of the IL-23-R381Q polymorphism. Moreover, the haplotype-based analysis proposed the mutant G-C (A924G, T4730C) as a significant risk haplotype for the development of MS. 35011777 Details
Variants Homo sapiens MS IL23A Potential Contribution of IL-27 and IL-23 Gene Polymorphisms to Multiple Sclerosis Susceptibility: An Association Analysis at Genotype and Haplotype Level The results of the current study showed a significant relationship of IL-27-A964G and IL-27-T4730C polymorphisms with increased risk of MS, and also the protective role of the IL-23-R381Q polymorphism. Moreover, the haplotype-based analysis proposed the mutant G-C (A924G, T4730C) as a significant risk haplotype for the development of MS. 35011777 Details
Variants Homo sapiens MS TNF Interaction of HLA-DRB1* 1501 and TNF-Alpha in a Population-based Case-control Study of Multiple Sclerosis Examining the effect of each SNP in the presence or absence of the HLA DRB1*1501 risk allele identified significant associations with TNF α -1031 (rs1799964) among those without the HLA risk allele. 25741530 Details
Variants Homo sapiens MS HLA-DRB1 Interaction of HLA-DRB1* 1501 and TNF-Alpha in a Population-based Case-control Study of Multiple Sclerosis Examining the effect of each SNP in the presence or absence of the HLA DRB1*1501 risk allele identified significant associations with TNF α -1031 (rs1799964) among those without the HLA risk allele. 25741530 Details
Variants Homo sapiens MS HLA-A The HLA rs9267649 and CYP24A1 rs2248359 Variants are Associated with Multiple Sclerosis: A Study on Iranian Population The present research results provide further evidence on the association of the two variants rs9267649 of the HLA and rs2248359 of the CYP24A1 gene with MS etiology and an increased risk of MS in Iranian RRMS patients. 36381285 Details
Variants Homo sapiens MS CYP24A1 The HLA rs9267649 and CYP24A1 rs2248359 Variants are Associated with Multiple Sclerosis: A Study on Iranian Population The present research results provide further evidence on the association of the two variants rs9267649 of the HLA and rs2248359 of the CYP24A1 gene with MS etiology and an increased risk of MS in Iranian RRMS patients. 36381285 Details
Variants Homo sapiens MS CD24 CD24 is a genetic modifier for risk and progression of multiple sclerosis We found that the CD24v/v renders a >2-fold increase in the relative risk of MS in the general population 14657362 Details
Variants Homo sapiens MS HLA-DRB1 Multiple Sclerosis in Sardinia Is Associated and in Linkage Disequilibrium with HLA-DR3 and However, the presence of different HLA class II allele associations, such as DRB1*1501 (DR2) in Caucasians (Hillert and Olerup 1993) and DRB1*040.. (DR4) and DRB1 *0301 (DR3), demonstrated both elsewhere (Marrosu et al. 1988) and in this report, suggests the possibility that any of these alleles may be the locus primarily involved in susceptibility to MS. 9311753 Details
Variants Homo sapiens MS APOE Association of the APOE ?4 allele with disease activity in multiple sclerosis ApoE ?4 patients (n=10) had a higher percent-age of partially recovered relapses (62%) as opposed to the non-?4 patients (n=26) who more commonly had completely rather than partially (42%) resolved relapses. 10406990 Details
Variants Homo sapiens MS MPO An association study of two functional promotor polymorphisms in the myeloperoxidase (MPO) gene in multiple sclerosis In this study, we investigated two polymorphisms located in the promotor region of the MPO gene, known to influence the expression of MPO, in a large case/control material consisting of 871 Swedish MS patients and 532 Swedish healthy controls. 17613595 Details
Variants Homo sapiens MS TRBV20OR9-2 The germline repertoire of T cell receptor beta-chain genes in multiple sclerosis patients from Spain Our data suggest that the TcR/3 chain gene complex contains one or more genes involved in genetic susceptibility to develop MS 8104194 Details
Variants Homo sapiens MS ESR1 Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population Our results do not support a role for these two ESR1 markers in multiple sclerosis susceptibility, however other markers within ESR1 should not be excluded for potential involvement in the disorder. 17109894 Details
Variants Homo sapiens MS HLA-DQB1 Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities In addition, primarily chronic pro-gressive MS was positively associated with theDQBl restriction fragment pattern seen in DR4,DQw8, DR7,DQw9, and DRw8, DQw4 haplotypes, as well as negatively associated with the Taq I DQBI allelic pattern corresponding to the serological specificity DQw7. 2571150 Details
Variants Homo sapiens MS HLA-DRB1 Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities Both clinical forms of MS were found to be associated with the DRw15,DQw6 haplotpe. 2571150 Details
Variants Homo sapiens MS HLA-DQA1 Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities In addition, primarily chronic pro-gressive MS was positively associated with theDQBl restriction fragment pattern seen in DR4,DQw8, DR7,DQw9, and DRw8, DQw4 haplotypes, as well as negatively associated with the Taq I DQBI allelic pattern corresponding to the serological specificity DQw7. 2571150 Details
Variants Homo sapiens MS HLA-DQB2 Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities In addition, primarily chronic pro-gressive MS was positively associated with theDQBl restriction fragment pattern seen in DR4,DQw8, DR7,DQw9, and DRw8, DQw4 haplotypes, as well as negatively associated with the Taq I DQBI allelic pattern corresponding to the serological specificity DQw7. 2571150 Details
Variants Homo sapiens MS INPP4B Nerve Conduction Velocity Is Regulated by the Inositol Polyphosphate-4-Phosphatase II Gene An association of an INPP4B polymorphism (rs13102150) with MS was observed in German and Spanish MS cohorts (3676 controls and 911 cases) 25129256 Details
Variants Homo sapiens MS IL1RN Interleukin-1 receptor antagonist gene polymorphism and multiple sclerosis Our results are the first to implicate the IL-lra gene in susceptibility to multiple sclerosis. 7564774 Details
Variants Homo sapiens MS EIF2B1 No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium.Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis 18632786 Details
Variants Homo sapiens MS EIF2B5 No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium.Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis 18632786 Details
Variants Homo sapiens MS EIF2B5 No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis We found no difference in the frequencies of 15 EIF2B1-5 variants between patients with MS and healthy controls, and none of the variants showed significant deviation of the Hardy-Weinberg equilibrium.Furthermore, sequencing data of EIF2B1-5 in 20 patients with MS and measurement of the activity of eIF2B complex in patient-derived lymphoblasts did not support our hypothesis 18632786 Details
Variants Homo sapiens MS PTPRC The role of the PTPRC (CD45) mutation in the development of multiple sclerosis in the North West region of the United Kingdom No PTPRC exon 4 genomic mutations were seen in any of the five families. In the non-familial cases the incidence of mutation was 4.1% in 197 controls and 5.1% in 330 multiple sclerosis patients.No significant association was found in this study with this mutation and disease susceptibility, sex, or an extended disability scale score of < 5.5. 12810785 Details
Variants Homo sapiens MS SYN3 N/A In summary, our data do not support the reported association for Italian MS patients or a protective effect of the C/A haplotype for the German cohort investigated here. N/A Details
Variants Homo sapiens MS SYN3 N/A In summary, our data do not support the reported association for Italian MS patients or a protective effect of the C/A haplotype for the German cohort investigated here. N/A Details
Variants Homo sapiens MS CYP2D6 Frequency of CYP2D6 allelic variants in multiple sclerosis These results indicate that mutations at the CYP2D6 gene do 1 not seem to be a factor in determining susceptibility to MS 8750111 Details
Variants Homo sapiens MS Mbp The myelin basic protein gene in multiple sclerosis: identification of discrete alleles of a 1.3 kb tetranucleotide repeat sequence We conclude that the MBP gene does not influence susceptibility to MS in Swedish patients. 9482678 Details
Variants Homo sapiens MS CCL2 Analysis of the monocyte chemoattractant protein 1 -2518 promoter polymorphism in patients with multiple sclerosis Thus, our data could not reveal any association between the MCP-1 -2518 polymorphism and susceptibility to or clinical disease course of MS. 15191525 Details
Variants Homo sapiens MS VMP1 Hypermethylation of MIR21 in CD4+ T cells from patients with relapsing-remitting multiple sclerosis associates with lower miRNA-21 levels and concomitant up-regulation of its target genes We observed significant methylation differences in the VMP1/MIR21 locus, with RR-MS dis-playing higher methylation compared to SP-MS and HC. 28766461 Details
Variants Homo sapiens MS VMP1 Hypermethylation of MIR21 in CD4+ T cells from patients with relapsing-remitting multiple sclerosis associates with lower miRNA-21 levels and concomitant up-regulation of its target genes VMP1/MIR21 methylation did not correlate with a known MS risk variant in VMP1 or smoking but displayed a significant negative correlation with age and the levels of mature miR-21 in CD4+ T cells 28766461 Details
Variants Homo sapiens MS APOE APOE e2-4 and -491 polymorphisms are not associated with MS Our study demonstrates that two APOE polymor-phisms are not associated with occurrence of MS or accumulation of clinical burden over time in the largest cohort of MS patients studied to date 10489065 Details
Variants Homo sapiens MS HLA-DRB1 A linkage study in two families with multiple sclerosis and healthy members with oligoclonal CSF immunopathy We suggest that DRB1*0103 is a necessary but not sufficient condition for the susceptibility for MS immunopathic trait in this family. 17262999 Details
Variants Homo sapiens MS MMP9 MMP-2 polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS The MMP-2 polymorphism led to a 5-year-earlier age of disease onset in MS patients with ON as a first symptom (p = 0.009). 26298319 Details
Variants Homo sapiens MS MMP2 MMP-2 polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS The MMP-2 polymorphism led to a 5-year-earlier age of disease onset in MS patients with ON as a first symptom (p = 0.009). 26298319 Details
Variants Homo sapiens MS IL-2R Multiple Autoimmune-Associated Variants Confer Decreased IL-2R Signaling in CD4+CD25hi T Cells of Type 1 Diabetic and Multiple Sclerosis Patients Together, these data suggest that multiple mechanisms converge in disease leading to decreased response to IL-2, a phenotype that may eventually lead to loss of tolerance and autoimmunity 24376757 Details
Variants Homo sapiens MS VDR Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece This study suggests that the Taq-I and Bsm-I polymorphisms of the VDR gene are not associated with MS risk, BMI or BMD in the Greek population studied. 21545713 Details
Variants Homo sapiens MS VDR Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece This study suggests that the Taq-I and Bsm-I polymorphisms of the VDR gene are not associated with MS risk, BMI or BMD in the Greek population studied. 21545713 Details
Variants Homo sapiens MS ESR1 Correlation between ERα gene polymorphism and multiple sclerosis and neuromyelitis optica Xba I gene polymorphisms in the ER α gene have correlation with MS and NMO. Xba I gene could be a risk factor of MS and NMO pathogenesis, especially the women with Xx genotype are more vulnerable. 36254093 Details
Variants Homo sapiens MS CCR5 Inuence of C C R5 d32 po lymorphism on multiple sclero sis susceptibility and disease co urse These results suggest that the C C R5 d32 polymorphism is no t a major deter minant o f susceptibility to develop MS in the populatio n under study, and co nflict with a previo usly repo rted associatio n betw een C C R5 d32 carriage and a better prognosis 15124759 Details
Variants Homo sapiens MS CD1A CDIAAND CDIE GENE POLYMORPHISMS ARE ASSOCIATED WITH SUSCEPTIBILITY TO MULTIPLE SCLEROSIS CDIE 01-01 is associated with a reduced risk ofMS (OR 0.54, p=O.OOI); CDIA 02-02 (OR 1.99, p=0.012) or CDIE 02-02 (OR 2.45, p=O.OOO) with an increased risk. 21496400 Details
Variants Homo sapiens MS CD1E CDIAAND CDIE GENE POLYMORPHISMS ARE ASSOCIATED WITH SUSCEPTIBILITY TO MULTIPLE SCLEROSIS CDIE 01-01 is associated with a reduced risk ofMS (OR 0.54, p=O.OOI); CDIA 02-02 (OR 1.99, p=0.012) or CDIE 02-02 (OR 2.45, p=O.OOO) with an increased risk. 21496400 Details
Variants Homo sapiens MS CTLA4 CTLA4 is associated with susceptibility to multiple sclerosis Being homozygous for AT8 (common) allele of the 3V(514) microsatellite (OR: 1.69; CI: 0.99 – 2.86) and for the common 5V(318)*C/E1(49)*A/3V(514*AT8 haplotype (OR: 1.96; CI: 1.13 – 3.39) was associated with increased susceptibility to MS in Olmsted County. 12507781 Details
Variants Homo sapiens MS TAGAP Association of rs1738074 polymorphism of TAGAP gene with susceptibility to multiple sclerosis in the Iranian population The results suggested that TAGAP rs1738074 polymorphism could be considered as a risk factor in the prevalence of MS in the Iranian population 28356229 Details
Variants Homo sapiens MS BDNF The BDNF-Val66Met polymorphism: Implications for susceptibility to multiple sclerosis and severity of disease The BDNF-V al66Met-polymorphism leads to altered intracellular transport and secretion of BDNF, and is thus a logical candidate for a gene that influences susceptibility and, more specifically, the clinical course of multiple sclerosis. 16046000 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1*1501 and Spinal Cord Magnetic Resonance Imaging Lesions in Multiple Sclerosis Carriership of HLA-DRB1*1501 (via rs3135388) was associated with the extent of focal ab-normalities in the spinal cord. Spinal cord lesions might be an explanation for increased MS disease severity in patients carrying HLA-DRB1*1501. 20008659 Details
Variants Homo sapiens MS CIITA MHC2TA rs4774C and HHV-6A active replication in multiple sclerosis patients This study has verified previous results about the strong gene–envi-ronment interaction between HHV6A active replication and MHC2TA rs4774C.Furthermore, a different clinical behavior for MS patients with HHV-6A active infection and minor allele C was found. 19659749 Details
Variants Homo sapiens MS HLA-B Killer Immunoglobulin-like Receptor Ligand HLA-Bw4 Protects Against Multiple Sclerosis Carriage of the ligand of the inhibitory KIR3DL1 receptor, HLA-Bw4, was found to protect against MS in an HLA-DRB1 independent manner 19630074 Details
Variants Homo sapiens MS STAT3 Independent replication of STAT3 association with multiple sclerosis risk in a large German case–control sample observed a nominally significant, albeit weak association between rs744166 and MS susceptibility (odds ratio=1.09, P=0.012) in our sample 22095036 Details
Variants Homo sapiens MS STAT3 Independent replication of STAT3 association with multiple sclerosis risk in a large German case–control sample observed a nominally significant, albeit weak association between rs744166 and MS susceptibility (odds ratio=1.09, P=0.012) in our sample 22095036 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis Clinical characteristics of childhood MS patients with or without mutations did not differ significantly. Conclusion One third of our childhood MS patients had a heterozygous mutation in the TNFRSF1A and/or MEFV gene. 28927886 Details
Variants Homo sapiens MS VDR The multiple sclerosis-associated regulatory variant rs10877013 affects expression of CYP27B1 and VDR under inflammatory or vitamin D stimuli The MS-associated variant rs10877013 is a genetic determinant that affects the functioning of the vitamin D system linking environmental and genetic factors. 26466946 Details
Variants Homo sapiens MS CD14 Lack of association of the CD14/C polymorphism with susceptibility and progression parameters in Turkish multiple sclerosis patients CD14 polymorphism frequency between the healthy controls and the MS patients were not significantly differ-ent. 22703766 Details
Variants Homo sapiens MS CD14 Lack of association of the CD14/C polymorphism with susceptibility and progression parameters in Turkish multiple sclerosis patients CD14 polymorphism frequency between the healthy controls and the MS patients were not significantly differ-ent. 22703766 Details
Variants Homo sapiens MS NOTCH4 A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501 We conclude that alleles of the NOTCH4 and TNFa genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6. 14651518 Details
Variants Homo sapiens MS TNF A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501 We conclude that alleles of the NOTCH4 and TNFa genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6. 14651518 Details
Variants Homo sapiens MS HLA-DRB1 Frequency of Hla-DRb1 gene alleles in Patients with Multiple sclerosis in a lithuanian Population HLA-DRB1*15 was found to be associated with multiple sclerosis in the Lithu-anian population. 22370504 Details
Variants Homo sapiens MS HLA-DRB1 The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-h We confirm, primarily in the cohort originating from Continental Spain, that similar to other high-risk groups, there was a significant association with HLA-DR2 12225902 Details
Variants Homo sapiens MS CXCL16 The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor The main finding of this study is gender-specific association of CXCL16 A181V polymorphism with susceptibility to MS in females. 24854635 Details
Variants Homo sapiens MS IFIH1 The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor This study showed an association of rs1990760 polymorphism in the IFIH1 gene in the development of GD, LADA diabetes and MS within the Polish population. 31733941 Details
Variants Homo sapiens MS GPC5 Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients The study suggests that genetic variants inGPC5, CD58 and IRF8 genes may be of clinical interest in MS as predictors of age of onset and response to therapy. 30818222 Details
Variants Homo sapiens MS CD58 Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients The study suggests that genetic variants inGPC5, CD58 and IRF8 genes may be of clinical interest in MS as predictors of age of onset and response to therapy. 30818222 Details
Variants Homo sapiens MS IRF8 Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients The study suggests that genetic variants inGPC5, CD58 and IRF8 genes may be of clinical interest in MS as predictors of age of onset and response to therapy. 30818222 Details
Variants Homo sapiens MS IL23A Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases. 27893410 Details
Variants Homo sapiens MS IL23A Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases. 27893410 Details
Variants Homo sapiens MS IL23A Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases. 27893410 Details
Variants Homo sapiens MS IL23R Characterization of variations in IL23A and IL23R genes: possible roles in multiple sclerosis and other neuroinflammatory demyelinating diseases We conclude that variants in IL-23A and IL-23R genes were associated with the risk of MS or other IDD diseases. 27893410 Details
Variants Homo sapiens MS IL10 Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients Although the size of the study group is small, these results indicate that polymorphic variations of two of the major anti-inflammatory cytokines, IL-10 and TGF-h, may play a role in MS susceptibility. 16183136 Details
Variants Homo sapiens MS TYK2 Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene Within this pedigree, rs55762744 is common and appears to be a modifier of modest risk effect. 22744673 Details
Variants Homo sapiens MS IFIH1 IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk Therefore, genes included in this locus – IFIH1 interferon induced helicase,GCA grancalcin or the potassium channel KCNH7 – are potential candidates implicated in the pathogenesis of these autoimmune diseases, although strong linkage disequilibrium in the region hampered further localization of the etiologic gene. 18285833 Details
Variants Homo sapiens MS KCNH7 IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk Therefore, genes included in this locus – IFIH1 interferon induced helicase,GCA grancalcin or the potassium channel KCNH7 – are potential candidates implicated in the pathogenesis of these autoimmune diseases, although strong linkage disequilibrium in the region hampered further localization of the etiologic gene. 18285833 Details
Variants Homo sapiens MS CIITA The MHC2TA –168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies Carriage of 11614C was protective against JIA (OR 0.6, 95% CI 0.3–1.0) and showed a similar trend in RA and MS (OR 0.7, 95% CI 0.5–1.0; OR 0.8, 95% CI 0.6–1.0, respectively). 29100048 Details
Variants Homo sapiens MS PRF1 Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, and rs3758562) in 420 patients with MS and 512 controls. 20921521 Details
Variants Homo sapiens MS PRF1 Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, and rs3758562) in 420 patients with MS and 512 controls. 20921521 Details
Variants Homo sapiens MS PRF1 Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, and rs3758562) in 420 patients with MS and 512 controls. 20921521 Details
Variants Homo sapiens MS GALR2 A non-functional galanin receptor-2 in a multiple sclerosis patient Here, after performing whole exome sequencing, we found a MS patient harboring a rare and homozygous single nucleotide variant (SNV; rs61745847) of the G-protein coupled receptor (GPCR) galanin-receptor 2 (GALR2) that alters an important amino acid in the TM6 molecular toggle switch region (W249L). 30131588 Details
Variants Homo sapiens MS LEP Polymorphism in Leptin and Leptin Receptor Genes May Modify Leptin Levels and Represent Risk Factors for Multiple Sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Variants Homo sapiens MS LEPR Polymorphism in Leptin and Leptin Receptor Genes May Modify Leptin Levels and Represent Risk Factors for Multiple Sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Variants Homo sapiens MS IL6 Association of interleukin 6, interleukin 7 receptor alpha, and interleukin 12B gene polymorphisms with multiple sclerosis We also showed that IL-12B A1188C (rs3212227) can contribute to the progression of the disease in the Czech population. 30069682 Details
Variants Homo sapiens MS IL-12 Association of interleukin 6, interleukin 7 receptor alpha, and interleukin 12B gene polymorphisms with multiple sclerosis We also showed that IL-12B A1188C (rs3212227) can contribute to the progression of the disease in the Czech population. 30069682 Details
Variants Homo sapiens MS FOXP3 The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor To our knowledge this is the first study which indicates gender-specific relation between rs3761547 FOXP3 gene polymorphism and multiple sclerosis. 30229436 Details
Variants Homo sapiens MS HLA-DRB1 Genetic and Infectious Profiles of Japanese Multiple Sclerosis Patients Our study suggests that MS patients harboring DRB1*0405, a genetic risk factor for MS in the Japanese population, have a younger age at onset and a relatively benign disease course, while DRB1*0405-negative MS patients have features similar to Western-type MS in terms of association with Epstein-Barr virus infection and DRB1*1501. The recent increase of MS in young Japanese people may be caused, in part, by an increase in DRB1*0405-positive MS patients. 23152786 Details
Variants Homo sapiens MS LEP Association study of rs7799039, rs1137101 and rs8192678 gene variants with disease susceptibility/severity and corresponding LEP, LEPR and PGC1A gene expression in multiple sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Variants Homo sapiens MS LEPR Association study of rs7799039, rs1137101 and rs8192678 gene variants with disease susceptibility/severity and corresponding LEP, LEPR and PGC1A gene expression in multiple sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Variants Homo sapiens MS PPARGC1A Association study of rs7799039, rs1137101 and rs8192678 gene variants with disease susceptibility/severity and corresponding LEP, LEPR and PGC1A gene expression in multiple sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Variants Homo sapiens MS MMP9 Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis No associations were found between the 17 polymorphisms and MS. Also, gene expression levels were analysed according to genotype: no associations were observed. 23897640 Details
Variants Homo sapiens MS PLAU Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis No associations were found between the 17 polymorphisms and MS. Also, gene expression levels were analysed according to genotype: no associations were observed. 23897640 Details
Variants Homo sapiens MS SERPINB2 Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis No associations were found between the 17 polymorphisms and MS. Also, gene expression levels were analysed according to genotype: no associations were observed. 23897640 Details
Variants Homo sapiens MS IL7 The interleukin-7 receptor a chain contributes to altered homeostasis of regulatory T cells in multiple sclerosis We found reduced IL-7Ra expression on conventional T cells and upregulated IL-7 plasma levels together with reduction of RTE-Treg frequencies and Treg function in MS, without clear genetic influence. Decreased IL-7Ra expression in MS correlated with declined dual-receptor-Treg and reduced MDC TSLPR expression, indicating contracted thymic Treg output 21287555 Details
Variants Homo sapiens MS IL7R The interleukin-7 receptor a chain contributes to altered homeostasis of regulatory T cells in multiple sclerosis We found reduced IL-7Ra expression on conventional T cells and upregulated IL-7 plasma levels together with reduction of RTE-Treg frequencies and Treg function in MS, without clear genetic influence. Decreased IL-7Ra expression in MS correlated with declined dual-receptor-Treg and reduced MDC TSLPR expression, indicating contracted thymic Treg output 21287555 Details
Variants Homo sapiens MS MMEL1 A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in MMEL1 in multiple sclerosis susceptibilit 20574445 Details
Variants Homo sapiens MS IRF5 Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population. Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue. 26112714 Details
Variants Homo sapiens MS IL7R Haplotype 4 of the multiple sclerosis-associated interleukin-7 receptor alpha gene influences the frequency of recent thymic emigrants In conclusion, our findings suggest that IL-7Ra polymorphisms can influence T cell development and homeostasis, and thereby contribute to the altered immune regulation associated with disease development in patients with MS 20072142 Details
Variants Homo sapiens MS IL10 Search for Genetic Factors Associated with Susceptibility to Multiple Sclerosis Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. 16803996 Details
Variants Homo sapiens MS IL-12 Search for Genetic Factors Associated with Susceptibility to Multiple Sclerosis Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. 16803996 Details
Variants Homo sapiens MS TNF Search for Genetic Factors Associated with Susceptibility to Multiple Sclerosis Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. 16803996 Details
Variants Homo sapiens MS HLA-DRB1 HLA associations in South Asian multiple sclerosis Our study confirms that the risk effects attributable to the HLA- DRB1*15:01and DRB1*03 alleles seen in Europeans are also seen in Indians. The absence of any evidence of association with DQB1 alleles reflects the lower linkage disequilibrium between DQB1 alleles and DRB1 risk alleles present in this population, and illustrates the potential value of fine mapping signals of association in different ethnic groups. 25921049 Details
Variants Homo sapiens MS HLA-DQB1 HLA associations in South Asian multiple sclerosis Our study confirms that the risk effects attributable to the HLA- DRB1*15:01and DRB1*03 alleles seen in Europeans are also seen in Indians. The absence of any evidence of association with DQB1 alleles reflects the lower linkage disequilibrium between DQB1 alleles and DRB1 risk alleles present in this population, and illustrates the potential value of fine mapping signals of association in different ethnic groups. 25921049 Details
Variants Homo sapiens MS MMP2 MMP-2 polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS The MMP-2 polymorphism led to a 5-year-earlier age of disease onset in MS patients with ON as a first symptom (p = 0.009). 26298319 Details
Variants Homo sapiens MS IL1RL1 Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON. 32449403 Details
Variants Homo sapiens MS IL1RAP Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON. 32449403 Details
Variants Homo sapiens MS IL6 Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON. 32449403 Details
Variants Homo sapiens MS HTRA1 Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON. 32449403 Details
Variants Homo sapiens MS GFI1 Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis This Tag-SNP captures two SNPs in complete linkage disequilibrium (r21), both located within the 17th intron of the EVI5 gene. Our findings agree with the corresponding data of the recent IMSGC study and present new genetic evidence that points to EVI5 as a factor of susceptibility to MS 20087403 Details
Variants Homo sapiens MS GFI1 Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis This Tag-SNP captures two SNPs in complete linkage disequilibrium (r21), both located within the 17th intron of the EVI5 gene. Our findings agree with the corresponding data of the recent IMSGC study and present new genetic evidence that points to EVI5 as a factor of susceptibility to MS 20087403 Details
Variants Homo sapiens MS GFI1 Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis This Tag-SNP captures two SNPs in complete linkage disequilibrium (r21), both located within the 17th intron of the EVI5 gene. Our findings agree with the corresponding data of the recent IMSGC study and present new genetic evidence that points to EVI5 as a factor of susceptibility to MS 20087403 Details
Variants Homo sapiens MS NFKB1 Inhibitors in the NF?B cascade comprise prime candidate genes predisposing to multiple sclerosis,especially in selected combinations The genes of NF?B inhibitors exhibit more sequence variations. In the IKBL gene a predisposing allele was identified (13.1% vs 7.5% in the control group, P ? 0.001). 12058256 Details
Variants Homo sapiens MS RELA Inhibitors in the NF?B cascade comprise prime candidate genes predisposing to multiple sclerosis,especially in selected combinations The genes of NF?B inhibitors exhibit more sequence variations. In the IKBL gene a predisposing allele was identified (13.1% vs 7.5% in the control group, P ? 0.001). 12058256 Details
Variants Homo sapiens MS CLEC16A Chromosomal region 16p13: further evidence of increased predisposition to immune diseases Associations of CLEC16A polymorphisms with T1D and MS were successfully replicated in a Spanish population. A novel association of rs6498169 with a predisposition to RA was described which is consistent with previous MHC2TA results. These data provide evidence for the influence of variants within this chromosomal region on the development of complex diseases. 19221398 Details
Variants Homo sapiens MS CLEC16A Chromosomal region 16p13: further evidence of increased predisposition to immune diseases Associations of CLEC16A polymorphisms with T1D and MS were successfully replicated in a Spanish population. A novel association of rs6498169 with a predisposition to RA was described which is consistent with previous MHC2TA results. These data provide evidence for the influence of variants within this chromosomal region on the development of complex diseases. 19221398 Details
Variants Homo sapiens MS CLEC16A Chromosomal region 16p13: further evidence of increased predisposition to immune diseases Associations of CLEC16A polymorphisms with T1D and MS were successfully replicated in a Spanish population. A novel association of rs6498169 with a predisposition to RA was described which is consistent with previous MHC2TA results. These data provide evidence for the influence of variants within this chromosomal region on the development of complex diseases. 19221398 Details
Variants Homo sapiens MS HLA-DRB1 TAP2 Gene Polymorphism Contributes to Genetic Susceptibility to Multiple Sclerosis The J genetic variability and are involved in the transport of mutation was not found in linkage disequilibrium with antigenic peptides from the cytoplasm to the endoplasmic the HLA-DRB lx 150 1 allele and can be considered an reticulum. Comparison of 116 MS patients with Cauca- additional genetic susceptibility marker of the disease. 7759306 Details
Variants Homo sapiens MS HLA-DQB1 TAP2 Gene Polymorphism Contributes to Genetic Susceptibility to Multiple Sclerosis The J genetic variability and are involved in the transport of mutation was not found in linkage disequilibrium with antigenic peptides from the cytoplasm to the endoplasmic the HLA-DRB lx 150 1 allele and can be considered an reticulum. Comparison of 116 MS patients with Cauca- additional genetic susceptibility marker of the disease. 7759306 Details
Variants Homo sapiens MS APOE Apolipoprotein E ?4 is associated with rapid progression of multiple sclerosis These results suggest no effect of the APOE genotype on susceptibility to MS, but indicate an association of the APOE ?4 allele with a more severe course of the disease. 11552016 Details
Variants Homo sapiens MS MBP Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients W e concluded that the MBP gene does not play a role in MS susceptibility in Sardini-ans. 12420096 Details
Variants Homo sapiens MS TGFB1 A link between promoter polymorphisms of the transforming growth factor β1 (TGFB1) and TGF-β1 receptor II (TGFBR2) genes and relapsing-remitting multiple sclerosis In summary, we suggest that in males, a higher TGF-β1 level determined by TGFB1T[-509]T genotype in combination with the TGFBR2G[-875]A genotype might be a protective factor against RRMS development. 33480235 Details
Variants Homo sapiens MS TGFBR2 A link between promoter polymorphisms of the transforming growth factor β1 (TGFB1) and TGF-β1 receptor II (TGFBR2) genes and relapsing-remitting multiple sclerosis In summary, we suggest that in males, a higher TGF-β1 level determined by TGFB1T[-509]T genotype in combination with the TGFBR2G[-875]A genotype might be a protective factor against RRMS development. 33480235 Details
Variants Homo sapiens MS IRF5 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS IRF5 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS IRF5 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS IRF8 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS IRF8 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS GPC5 Prediction of response to interferon therapy in multiple sclerosis Genetic analysis of the studied gene variants do not provide additional information. 24943672 Details
Variants Homo sapiens MS CTLA-4 No evidence of a significant role for CTLA-4 in multiple sclerosis No individual marker or common haplotype showed evidence of association with disease. These data suggest that any effect of CTLA-4 on multiple sclerosis susceptibility is likely to be very small. 16325273 Details
Variants Homo sapiens MS CXCL10 CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course Therefore, the GGTT haplotype of the CXCL10 gene is not a susceptibility factor for the development of MS 17250724 Details
Variants Homo sapiens MS CXCL10 CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course Therefore, the GGTT haplotype of the CXCL10 gene is not a susceptibility factor for the development of MS 17250724 Details
Variants Homo sapiens MS CXCL10 CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course but is probably to influence the course of MS, possibly contributing to slow down the progression of the disease. 17250724 Details
Variants Homo sapiens MS CXCL10 CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course but is probably to influence the course of MS, possibly contributing to slow down the progression of the disease. 17250724 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A coding variants in multiple sclerosis No other non-synonymous variants in the same allele frequency range influencing risk of MS were observed. 21565411 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A coding variants in multiple sclerosis which appears independent of an established common risk variant in the same gene. 21565411 Details
Variants Homo sapiens MS IL7R Relevance of IL7R genotype and mRNA expression in Dutch patients with multiple sclerosis In particular, homozygosity for the risk allele is a risk factor for MS in our population (ORCC vs CT and TT 1.65 (95% CI: 1.18–2.30), two-sided p 0.004). However, no effect of genotype or the relative expression of membrane-bound IL7R (presence of exon 6–7) to total amount of IL7R mRNA (presence of exon 4–5) was found on MS phenotype. 21543551 Details
Variants Homo sapiens MS HLA-B Clinical behavior of multiple sclerosis is modulated by the MHC class I-chain-related gene A Neither HLA-B nor HLA-DR alleles were found to be associated with MS susceptibility. 16671949 Details
Variants Homo sapiens MS HLA-DRB1 Clinical behavior of multiple sclerosis is modulated by the MHC class I-chain-related gene A Neither HLA-B nor HLA-DR alleles were found to be associated with MS susceptibility. 16671949 Details
Variants Homo sapiens MS CCL7 Microsatellite polymorphisms in the gene promoter of monocyte chemotactic protein-3 and analysis of the association between monocyte chemotactic protein-3 alleles and multiple sclerosis development We conclude that the MCP-3)A4 allele might protect against MS development on the background of the increased risk in HLA-DRB1)15q individuals and the MCP-3)A2 allele seems protective in low-risk individuals, who are both negative for DRB1)03 and DRB1)15. 10229131 Details
Variants Homo sapiens MS HLA-DMB HLA-DM polymorphisms do not associate with multiple sclerosis: an association study with analysis of myelin basic protein T cell specificity Patients with predominant responses to different MBP epitopes did not differ for their HLA-DM haplotype while patients with predominant responses to the same MBP epitope could present different HLA-DM haplotypes. HLA-DM polymorphisms do not associate with MS and may not affect specific patterns of T cell responses to MBP 9258248 Details
Variants Homo sapiens MS HLA-DMA HLA-DM polymorphisms do not associate with multiple sclerosis: an association study with analysis of myelin basic protein T cell specificity Patients with predominant responses to different MBP epitopes did not differ for their HLA-DM haplotype while patients with predominant responses to the same MBP epitope could present different HLA-DM haplotypes. HLA-DM polymorphisms do not associate with MS and may not affect specific patterns of T cell responses to MBP 9258248 Details
Variants Homo sapiens MS IL2 Allelic expression and interleukin-2 polymorphisms in multiple sclerosis These data indicate for the first time the relevance of the il-2 gene locus in human MS and its possible involvement in other autoimmune diseases 11525806 Details
Variants Homo sapiens MS APOE Apolipoprotein E polymorphism in multiple sclerosis Furthermore, we show that no particular apo E allele was associated with familial or sporadic MS. These results are different from those reported for AD. 9463752 Details
Variants Homo sapiens MS PRNP Genetic Polymorphism at Codon 129 of the Prion Protein Gene Is Not Associated With Multiple Sclerosis No deviations from Hardy-Weinberg equilibrium were observed for genotypes in the patient, parent, or com-bined group (data not shown). 19204171 Details
Variants Homo sapiens MS TNF Gene polymorphism at position -308 of the tumor-necrosis-factor- (TNF-c ) in Multiple Sclerosis and it's influence on the regulation of TNF-c production Considering the association of different TNF-~ alleles with diverse autoimmune diseases we sequenced the TNF-u promotor region (-674 to +201) of 23 patients with relapsing/remitting MS, of 27 patients with chronic progressive MS (21 patients had primary progressive course and six patients had a secondary progressive course) and of 22 healthy controls, who had no history of MS in their families. In three of 21 patients (14%) with primary chronic progressive MS a homozygous point-mutation at position -308 could be demonstrated where guanine (G) was substituted by adenosine (A). This mutation could neither be detected in patients with relapsing/ remitting MS nor in healthy controls. However, 40% of the patients with relapsing/remitting MS and 43% of the primary chronic progressive MS patients were heterozygous at position -308 for G/A, whereas only 32% of healthy controls showed this heterogeneity. 8887999 Details
Variants Homo sapiens MS HLA-A Multiple sclerosis in the Faroe Islands VI. Studies of HLA markers No significant deviations in antigen frequencies between MS patients and control groups were observed. 7903488 Details
Variants Homo sapiens MS HLA-B Multiple sclerosis in the Faroe Islands VI. Studies of HLA markers No significant deviations in antigen frequencies between MS patients and control groups were observed. 7903488 Details
Variants Homo sapiens MS HLA-DRB1 Multiple sclerosis in the Faroe Islands VI. Studies of HLA markers whereas the class I1 antigens do deviate: 50% of the Faroese MS patients carry the HLA-DR2 (DQI lDRB 15) antigen, compared to a frequency of 15-2ou/0 among the control groups. 7903488 Details
Variants Homo sapiens MS TRB Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR beta locus: use of affected family-based controls Susceptibility to RP MS is associated both with a recessive inheritance of a gene linked to the 30 (Vb11) end of the 2-1 subhaplotype defined by the Vb8-BamHI and Vb11-BamHI alleles in DRw151 patients and with a gene, located on the 1-1 subhaplotype, defined by the Vb1-TaqI and Vb8-MspI alleles of the TcR b-chain com-plex in DRw152 patients. 9463308 Details
Variants Homo sapiens MS NOD2 Crohn’s associated NOD2 gene variants are not involved in determining susceptibility to multiple sclerosis Our results indicate that the NOD2 gene is probably not influencing susceptibility to autoimmune disease in general but is specific for Crohn’s disease. 12876263 Details
Variants Homo sapiens MS HLA-A Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-C Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-B Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-DRA Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-DRB1 Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-DQA1 Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS HLA-DQB1 Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. 19654877 Details
Variants Homo sapiens MS GRM7 A single nucleotide polymorphism in the metabotropic glutamate receptor 7 gene is associated with multiple sclerosis in Iranian population The rs779867 was associated with MS risk in recessive model (OR (95% CI) = 0.67 (0.48–0.94)), P-value = 0.02, adjusted P-value = 0.04). 30616226 Details
Variants Homo sapiens MS GRM7 A single nucleotide polymorphism in the metabotropic glutamate receptor 7 gene is associated with multiple sclerosis in Iranian population There was no significant difference in allele and genotype frequencies of rs6782011 between cases and controls. 30616226 Details
Variants Homo sapiens MS GRM7 A single nucleotide polymorphism in the metabotropic glutamate receptor 7 gene is associated with multiple sclerosis in Iranian population None of the estimated haplotype blocks of rs6782011 and rs779867 were associated with MS risk in the assessed population. 30616226 Details
Variants Homo sapiens MS GRM7 TNF-a and -b Gene Polymorphisms in Multiple Sclerosis: A Highly Significant Role for Determinants in the First Intron of the TNF-b Gene None of the estimated haplotype blocks of rs6782011 and rs779867 were associated with MS risk in the assessed population. 12568117 Details
Variants Homo sapiens MS LTA TNF-a and -b Gene Polymorphisms in Multiple Sclerosis: A Highly Significant Role for Determinants in the First Intron of the TNF-b Gene These results suggest that the TNF-b gene plays a significant role in the etiopathogenesis of MS. 12568117 Details
Variants Homo sapiens MS TNF TNF-a and -b Gene Polymorphisms in Multiple Sclerosis: A Highly Significant Role for Determinants in the First Intron of the TNF-b Gene TNF-α genotypes were not associated with MS 12568117 Details
Variants Homo sapiens MS CD226 CD226 Gly307Ser association with multiple autoimmune diseases The Ser307 allele of rs763361 in exon 7 of CD226 predisposes to T1D,MS, possibly AITD and possibly RA, and based on the tag SNP analysis, could be the causal variant. 18971939 Details
Variants Homo sapiens MS APOE APOE ?4 and the cognitive genetics of multiple sclerosis This study does not support a role for the epsilon4 allele in cognitive dysfunction in multiple sclerosis. 20479360 Details
Variants Homo sapiens MS HLA-DRA Multiple Sclerosis in French Canadians: Evidence for HLA Class II Susceptibility and Resistance Genes An MS-associated and linked series of allele-specific RFLPs or allogenotypes was identified among this relatively homogeneous ethnic group; the allogenotypes include DRwl5, DQw6 and a DQA1 allogenotype termed DQalb. An additional allogenotype which cross-hybridizes with DQA1 and is termed DQA2 upper (DQA2U), was shown not only to be part of the MS-associated extended haplotype, but also to be independently associated with MS in DRwl5-nega-tive patients. Conversely a second DQA2 allogenotype, termed DQA2 lower (DQA2L) and a DQB1 allogenotype (DQw7) linked to DQA2L showed negative correlations with MS. It seems likely that the relationship of the HLA class II gene region to MS is complex and that MS susceptibility may reflect interaction between disease susceptibility and resistance genes. 2125855 Details
Variants Homo sapiens MS HLA-DRB1 Multiple Sclerosis in French Canadians: Evidence for HLA Class II Susceptibility and Resistance Genes An MS-associated and linked series of allele-specific RFLPs or allogenotypes was identified among this relatively homogeneous ethnic group; the allogenotypes include DRwl5, DQw6 and a DQA1 allogenotype termed DQalb. An additional allogenotype which cross-hybridizes with DQA1 and is termed DQA2 upper (DQA2U), was shown not only to be part of the MS-associated extended haplotype, but also to be independently associated with MS in DRwl5-nega-tive patients. Conversely a second DQA2 allogenotype, termed DQA2 lower (DQA2L) and a DQB1 allogenotype (DQw7) linked to DQA2L showed negative correlations with MS. It seems likely that the relationship of the HLA class II gene region to MS is complex and that MS susceptibility may reflect interaction between disease susceptibility and resistance genes. 2125855 Details
Variants Homo sapiens MS HLA-DQA1 Multiple Sclerosis in French Canadians: Evidence for HLA Class II Susceptibility and Resistance Genes An MS-associated and linked series of allele-specific RFLPs or allogenotypes was identified among this relatively homogeneous ethnic group; the allogenotypes include DRwl5, DQw6 and a DQA1 allogenotype termed DQalb. An additional allogenotype which cross-hybridizes with DQA1 and is termed DQA2 upper (DQA2U), was shown not only to be part of the MS-associated extended haplotype, but also to be independently associated with MS in DRwl5-nega-tive patients. Conversely a second DQA2 allogenotype, termed DQA2 lower (DQA2L) and a DQB1 allogenotype (DQw7) linked to DQA2L showed negative correlations with MS. It seems likely that the relationship of the HLA class II gene region to MS is complex and that MS susceptibility may reflect interaction between disease susceptibility and resistance genes. 2125855 Details
Variants Homo sapiens MS HLA-DQB1 Multiple Sclerosis in French Canadians: Evidence for HLA Class II Susceptibility and Resistance Genes An MS-associated and linked series of allele-specific RFLPs or allogenotypes was identified among this relatively homogeneous ethnic group; the allogenotypes include DRwl5, DQw6 and a DQA1 allogenotype termed DQalb. An additional allogenotype which cross-hybridizes with DQA1 and is termed DQA2 upper (DQA2U), was shown not only to be part of the MS-associated extended haplotype, but also to be independently associated with MS in DRwl5-nega-tive patients. Conversely a second DQA2 allogenotype, termed DQA2 lower (DQA2L) and a DQB1 allogenotype (DQw7) linked to DQA2L showed negative correlations with MS. It seems likely that the relationship of the HLA class II gene region to MS is complex and that MS susceptibility may reflect interaction between disease susceptibility and resistance genes. 2125855 Details
Variants Homo sapiens MS HLA-DQA2 Multiple Sclerosis in French Canadians: Evidence for HLA Class II Susceptibility and Resistance Genes An MS-associated and linked series of allele-specific RFLPs or allogenotypes was identified among this relatively homogeneous ethnic group; the allogenotypes include DRwl5, DQw6 and a DQA1 allogenotype termed DQalb. An additional allogenotype which cross-hybridizes with DQA1 and is termed DQA2 upper (DQA2U), was shown not only to be part of the MS-associated extended haplotype, but also to be independently associated with MS in DRwl5-nega-tive patients. Conversely a second DQA2 allogenotype, termed DQA2 lower (DQA2L) and a DQB1 allogenotype (DQw7) linked to DQA2L showed negative correlations with MS. It seems likely that the relationship of the HLA class II gene region to MS is complex and that MS susceptibility may reflect interaction between disease susceptibility and resistance genes. 2125855 Details
Variants Homo sapiens MS HLA-DRB1 Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese We confirmed that HLA-DRB1*15:01 showed the strongest association with MS 31382992 Details
Variants Homo sapiens MS HLA-B Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese Stepwise conditional analysis identified HLA-DRB1*04:05, 31382992 Details
Variants Homo sapiens MS HLA-DRB1 Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese HLA-B*39:01, and HLA-B*15:01 as being associated with independent MS susceptibility 31382992 Details
Variants Homo sapiens MS HLA-DRB1 The association of rs703842 variants in CYP27B1 with multiple sclerosis susceptibility is influenced by the HLA-DRB1*15:01 allele in Slovaks For the first time in Central European Slovak population, we found the rs703842 allele C to be protective factor against MS development 30875612 Details
Variants Homo sapiens MS TGFB1 Genetic variation in the transforming growth factor b1 gene in multiple sclerosis Transforming growth factor b1 TGFb1 is a Th2 cytokine encoded on chromosome 19q13, a region possibly linked to multiple .sclerosis MS . TGFb1 exerts favorable effects on experimental allergic encephalomyelitis. 11694328 Details
Variants Homo sapiens MS IL7R Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-a gene and their associations with multiple sclerosis There were trends towards an increase of the GTG+ haplotype (odds ratio 1.45), and under-representation of the TTA+ haplotype (OR 0.65) in DRB1*1501-positive MS cases, suggesting that larger sample sizes and comparison in more defined MS patient groups may support an association with the IL-7R gene. 12825072 Details
Variants Homo sapiens MS HLA-DQA1 Multiple sclerosis: epidemiological-genetic studies in the population of Antioquia, Colombia. Disequilibrium of HLA DQ alpha Similar results have been described in other Caucasian populations living in non tropical areas. Before results could indicate that the Caucasoid populations genetic component implied in the susceptibility to MS have remained in Paisa community, whether the environmental component, being meaningful to develop MS. 10730325 Details
Variants Homo sapiens MS IGH NO LINKAGE OR ASSOCIATION OF A VNTR MARKER IN THE JUNCTION REGION OF THE IMMUNOGLOBULIN HEAVY CHAIN GENES IN MULTIPLE SCLEROSIS We conclude that the IgH chain genes are unlikely to playa role in genetic susceptibility to MS in the Swedish population. 9306094 Details
Variants Homo sapiens MS CCR5 Chemokine receptor V D32 deletion in multiple sclerosis patients in Csongrád County in Hungary and the North-Bácska region in Serbia Our results indicate no association between the CCR5 D32 allele and MS. 25500253 Details
Variants Homo sapiens MS IL4 Association of interleukin (IL)-4 gene intron 3 VNTR polymorphism with multiple sclerosis in Turkish population The results of this study suggest that intron 3 VNTR polymorphism of the IL-4 gene was pos-itively associated with predisposition to develop MS in Turkish population. 23756167 Details
Variants Homo sapiens MS APOE Cognitive impairment in patients with multiple sclerosis: association with the APOE gene and promoter polymorphisms An association with the o4 allele was evident in this study, but only in cases of severe cognitive impairment. 17294608 Details
Variants Homo sapiens MS HLA-DPB1 Expression of HLA-DP in patients with neuromyelitis optica spectrum disorders There was no statistically significant difference of the distributions of HLA-DPB1*0501/HLA-DPB1*0501, HLA-DPB1*0501/X and X/X genotypes and the frequencies of allele of HLA-DPB1*0501 among NMOSD, MS patients and healthy controls (P=0.96 and 0.71, respectively). 31826574 Details
Variants Homo sapiens MS CYP7A1 Association of cholesterol 7αhydroxylase promoter polymorphism and cholesterol 24Shydroxylase intron 2 polymorphism with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population CYP7A1 rs3808607 and CYP46A1 rs754203 variations are not likely to confer an independent risk for MS development in the Turkish population. 34546511 Details
Variants Homo sapiens MS CYP46A1 Association of cholesterol 7αhydroxylase promoter polymorphism and cholesterol 24Shydroxylase intron 2 polymorphism with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population CYP7A1 rs3808607 and CYP46A1 rs754203 variations are not likely to confer an independent risk for MS development in the Turkish population. 34546511 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DQA1*04:01 is related to a higher multiple sclerosis lesion load on T2/Flair MRI sequences The correlation of the HLA-DQA1*04:01 allele with a higher lesion load on T2/Flair MRI sequences suggests that the presence of this allele is associated with the risk of greater MS severity. 34877984 Details
Variants Homo sapiens MS CTLA4 CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients This CTLA-4 polymorphism may modulate the prognosis of patients with MS and may be relevant to generation of OCB in the CSF. 10567049 Details
Variants Homo sapiens MS APOE Apo E in multiple sclerosis and optic neuritis: the Apo E-o4 allele is associated with progression of multiple sclerosis Apo E genotypes do not influence the development of MS and ON. The Apo o4 allele seems to predispose carriers with MS to a faster progression of diseas 16193886 Details
Variants Homo sapiens MS CTLA4 CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese Our results suggest that CTLA-4 gene polymorphisms are neither conclusively related to susceptibility nor to the clinical characteristics of MS, especially in Japanese patients with conventional/classical form and clinical features identical to those of their counterparts in Western countries. 15652423 Details
Variants Homo sapiens MS PTPRC CD45 (PTPRC) as a candidate gene in multiple sclerosis We conclude that the 77C0/G PTPRC polymorphism is present and preferentially transmitted in a small subgroup (B/5%) of MS families,which may only be detected with complementary methods of analysis 15584483 Details
Variants Homo sapiens MS HLA-DRB1 The Significance of HLA DRB1*1501 and Oligoclonal Bands in Multiple Sclerosis: Clinical Features and Disability There were no significant associations between the presence of HLA DRB1*1501 allele and the clinical symptoms, course of disease, or disability score. 22112985 Details
Variants Homo sapiens MS CTLA4 CTLA-4 Gene Polymorphisms (-318C/T, +49A/G, +6230A/G) in Iranian Patients with Multiple Sclerosis In spite of some previous reports, this study did not confirm any significant association with alleles and genotypes of SNPs of the CTLA4 in Iranian MS patients. Such disparity could be due to genetic background, ethnicity and different forms of the disease. 21131701 Details
Variants Homo sapiens MS CNP Analysis of polymorphisms of the 2',3'-cyclic nucleotide-3'-phosphodiesterase gene in patients with multiple sclerosis While the significance of this is unclear, it would appear unlikely that mutations in the expressed regions of the human CPNase gene contribute to genetic susceptibility to MS in the majority of sufferers. 9050359 Details
Variants Homo sapiens MS NRG1 Significant Association of rs77493513 Polymorphism in 3'-UTR of the NRG1 Gene with the Risk of Multiple Sclerosis Disease The results show that allele C of rs77493513 polymorphism in the NRG1 gene can be a risk factor for MS 35106689 Details
Variants Homo sapiens MS MIF Association of macrophage migration inhibitory factor gene promoter polymorphisms with multiple sclerosis in Turkish patients This study indicates that the MIF –173 CC genotype may cause susceptibility to multiple sclerosis in the white Turkish population and a younger age of disease onset is associated with this polymorphism. 20233515 Details
Variants Homo sapiens MS HLA-DRB1 HLA Class II Polymorphism in Saudi Patients with Multiple Sclerosis Sclerosis We found that several HLA-DRB1 and DQB1 alleles were associated with MS. 29131543 Details
Variants Homo sapiens MS HLA-DQB1 HLA Class II Polymorphism in Saudi Patients with Multiple Sclerosis Sclerosis We found that several HLA-DRB1 and DQB1 alleles were associated with MS. 29131543 Details
Variants Homo sapiens MS IL6 Less Frequent and Less Severe Flu-Like Syndrome in Interferon Beta-1a Treated Multiple Sclerosis Patients with at Least One Allele Bearing the G>C Polymorphism at Position -174 of the IL-6 Promoter Gene In conclusion, the study of IL-6 -174 G>C polymorphism would allow the identification of patients lacking the C nucleo-tide on both alleles who are at risk of a more severe FLS, and may be addressed to a timely and stronger anti-inflammatory/antipyretic therapy for a more effective FLS prevention. 26285213 Details
Variants Homo sapiens MS HLA-DRB1 Associations of HLA DRB1 alleles with IgG oligoclonal bands and their influence on multiple sclerosis course and disability status HLA DRB1*08 allele was related to a lower degree of disability. 27515835 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DRB1, -DQA1, -DQBl, =-DPA1 and -DPBl genes in Japanese multiple sclerosis patients Japanese MS patients and controls were examined for the distribution of HLA-DRBl, -DQAl, - DQBl, -DPAl and -DPB1 alleles using in vitro amplification of genomic DNA and probing with sequence-specific oligonucleotides. No significant difference in frequency of the examined alleles was observed among the two groups. 1926126 Details
Variants Homo sapiens MS HLA-DQA1 HLA-DRB1, -DQA1, -DQBl, =-DPA1 and -DPBl genes in Japanese multiple sclerosis patients Japanese MS patients and controls were examined for the distribution of HLA-DRBl, -DQAl, - DQBl, -DPAl and -DPB1 alleles using in vitro amplification of genomic DNA and probing with sequence-specific oligonucleotides. No significant difference in frequency of the examined alleles was observed among the two groups. 1926126 Details
Variants Homo sapiens MS HLA-DQB1 HLA-DRB1, -DQA1, -DQBl, =-DPA1 and -DPBl genes in Japanese multiple sclerosis patients Japanese MS patients and controls were examined for the distribution of HLA-DRBl, -DQAl, - DQBl, -DPAl and -DPB1 alleles using in vitro amplification of genomic DNA and probing with sequence-specific oligonucleotides. No significant difference in frequency of the examined alleles was observed among the two groups. 1926126 Details
Variants Homo sapiens MS HLA-DPB1 HLA-DRB1, -DQA1, -DQBl, =-DPA1 and -DPBl genes in Japanese multiple sclerosis patients Japanese MS patients and controls were examined for the distribution of HLA-DRBl, -DQAl, - DQBl, -DPAl and -DPB1 alleles using in vitro amplification of genomic DNA and probing with sequence-specific oligonucleotides. No significant difference in frequency of the examined alleles was observed among the two groups. 1926126 Details
Variants Homo sapiens MS HLA-DPA1 HLA-DRB1, -DQA1, -DQBl, =-DPA1 and -DPBl genes in Japanese multiple sclerosis patients Japanese MS patients and controls were examined for the distribution of HLA-DRBl, -DQAl, - DQBl, -DPAl and -DPB1 alleles using in vitro amplification of genomic DNA and probing with sequence-specific oligonucleotides. No significant difference in frequency of the examined alleles was observed among the two groups. 1926126 Details
Variants Homo sapiens MS IL1B Association of interleukin-1 gene cluster polymorphisms and haplotypes with multiple sclerosis in an Iranian population A significant association was found for the IL-1β +3953 T allele [OR = 1.43, 95% CI (1.14–1.79), P value = 0.002, Pc = 0.01] and for IL-1β + 3953 T/T genotype and MS risk [OR = 1.92, 95% CI (1.25–2.96), P value = 0.005, Pc = 0.01]. Interestingly,the genotypes of the polymorphisms remained significant under recessive, co-recessive and dominant models. 26531703 Details
Variants Homo sapiens MS HLA-DRB1 Evidence for the genetic role of human leukocyte antigens in low frequency DRB I * I 50 I multiple sclerosis patients in Israel Thus, DRBI * 1303 may serve as genetic risk factor for MS. Our study exemplifies the genetic heterogeneity in MS as there is a genetic effect of HLA on MS susceptibility in our low frequency DRBS*1SO0 patient. 10618697 Details
Variants Homo sapiens MS HLA-DRB1 HLA–multiple sclerosis association in Continental Italy and correlation with disease prevalence in Europe We did not detect an influence of the DR phenotype on disease course, age at onset/diagnosis, gender or familiarity. No association with Class I was detected in a random subset of patients and controls. 15081263 Details
Variants Homo sapiens MS CFB Factor B (BF) Allotypes and Multiple Sclerosis in North-East England There is a suggestion that the BF*S and Dw2+ alleles are more prevalent in chronic progressive patients, implying that in Dw2+ patients BF may influence the progression of the disease. 1797634 Details
Variants Homo sapiens MS HLA-DRB1 A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele In this validation cohort, the correlation coefficient (r2) between rs3135388*A and HLA-DRB1*1501 was >0.94. Subsequently, applying the assay to a group of MS patients and controls from Belgium confirmed the association of HLA-DRB1*1501 and MS in this population 18647361 Details
Variants Homo sapiens MS TRB Clone clusters in autoreactive CD4 T-cell lines from probable multiple sclerosis patients form disease-characteristic signatures Hierarchical clustering of the BV gene combinations, distin-guish three pMS auTCL groups, implying existence of up to three disease-related immune response patterns. These subgroup patterns may reflect different disease subclasses or alternatively they may suggest immune reactivity to different aetiological agents. Analyses of clonal-clustering patterns may potentially aid in subclassification of MS or in characterizing aetiological agents of this disease. 19740385 Details
Variants Homo sapiens MS TRA T-cell receptor V. and Ca alleles associated with multiple sclerosis and myasthenia gravis To look for associations between these markers and autoimmune diseases,we have studied the restriction fragment length polymorphism distribution of the Pss I markers in patients with multiple sclerosis, myasthenia gravis, and Graves disease. Significant differences in the frequency of the polymorphic V. and C.markers were identified between patients and healthy individ-uals. 2915992 Details
Variants Homo sapiens MS IL2 The association of ?330 interleukin-2 gene polymorphism and HLA-DR15 allele in Iranian patients with multiple sclerosis Our data demonstrated ?330 T IL2 allele provided major susceptibility to MS and HLA-DRB1* 1501 allele had an additive effect. In addi-tion, it seems that studies with larger sample size are required to bring about more authentic results. Our findings suggest that IL2 gene polymorphisms influence the susceptibility to MS in Iranian patients. 24919928 Details
Variants Homo sapiens MS HLA-DRB1 The association of ?330 interleukin-2 gene polymorphism and HLA-DR15 allele in Iranian patients with multiple sclerosis Our data demonstrated ?330 T IL2 allele provided major susceptibility to MS and HLA-DRB1* 1501 allele had an additive effect. In addi-tion, it seems that studies with larger sample size are required to bring about more authentic results. Our findings suggest that IL2 gene polymorphisms influence the susceptibility to MS in Iranian patients. 24919928 Details
Variants Homo sapiens MS MIR196A2 Variability of the MIR196A2 Gene as a Risk Factor in Primary-Progressive Multiple Sclerosis Development Variability of the MIR196A2 Gene as a Risk Factor in Primary-Progressive Multiple Sclerosis Development 31099778 Details
Variants Homo sapiens MS TNFSF13B European multiple sclerosis risk variants in the south Asian population We found that two-thirds of the tested variants (72/109) showed over representation of the Euro-pean risk allele in south Asian cases (p < 0.0003). In the rest of the Immunochip array, the most associated variant was rs7318477 which maps close to TNFSF13B, the gene for the B-cell-related protein BAFF. 26754803 Details
Variants Homo sapiens MS CCR5 CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis However, age of onset was approximately 3 years later in patients carry-ing the CCR5D32 deletion (Pp0.018 after controlling for gender effects). 10803840 Details
Variants Homo sapiens MS IL1B The Analysis of Correlation between IL-1B Gene Expression and Genotyping in Multiple Sclerosis Patients We found that the expression level of IL-1B in MS patients increased 3.336 times more than controls in PBMCs but the rs16944 SNP in the promoter region of IL-1B did not affect the expression level of this gene and there was not association of this SNP with MS in the examined population 24867167 Details
Variants Homo sapiens MS ICAM1 Multiple Sclerosis: The Increased Frequency of the ICAM-1 Exon 6 Gene Point Mutation Genetic Type K469 The results indicate increased frequency of ICAM-1 exon 6 allele T in MS patients, which may contribute to the MS genetics background. 9667594 Details
Variants Homo sapiens MS HLA-G The association between functional HLA-G 14 bp insertion/deletion and +3142 C > G polymorphisms and susceptibility to multiple sclerosis. ur findings showed that the +3142 C>G, but not the 14 bp INS/DEL, polymorphism may constitute a genetic susceptibility factor to MS in the Tunisian population. 27771469 Details
Variants Homo sapiens MS ICAM1 Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients Our analysis revealed no statistically significant asso-ciation of ICAM1 p o l y m o r p h i s m s w i t h r i s k o f M S d e v e l o p -ment in the Slovak population. 28130760 Details
Variants Homo sapiens MS ICAM1 Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients however, patients with earlier onset of MS showed slightly higher frequencies of the homozygous G allele at rs5498 in comparison to other genotypes (P = 0 . 0 4 ) ,suggesting that GG carriers tend to induce MS at an earlier age. 28130760 Details
Variants Homo sapiens MS HLA-DRB1 Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients Presence of the rs3135388 polymorphism tagging the major MS risk allele HLA-DRB1*15:01 allele was determined as well. 28130760 Details
Variants Homo sapiens MS CD40 Analysis of a CD40 ligand dinucleotide microsatellite in multiple sclerosis In addition, the effect of the polymor-phism on CD40 ligand mRNA expression was assessed using PBMC from 54 MS patients and 22 controls. The phenotype frequencies for the CD40LG marker did not differ significantly between gender-conditioned intermediate-MS subgroups and controls, or between gender-conditioned disability octiles. Nor did the polymorphism appear to exert any significant effect on mRNA expression in either patients or controls. 11918631 Details
Variants Homo sapiens MS EIF2B1 Arg113His mutation of vanishing white matter is not present in multiple sclerosis We describe a VWM patient, homozygous carrier of this mutation, who presented with clinical characteristics compatible with multiple sclerosis (MS). Our goal was to check if G338A polymorph-ism is present in MS, particularly in patients with onset-associated neurological trauma. 17439913 Details
Variants Homo sapiens MS ADA A Single Nucleotide ADA Genetic V ariant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment In MS patients, ADA SNP rs244072 is associated with CSF inflammation and disability. 33007809 Details
Variants Homo sapiens MS SPP1 Polymorphism of the osteopontin gene and clinical course of multiple sclerosis in the Polish population No association of OPN with susceptibility to MS was found in the Polish population. 26785368 Details
Variants Homo sapiens MS SPP1 Polymorphism of the osteopontin gene and clinical course of multiple sclerosis in the Polish population No association of OPN with susceptibility to MS was found in the Polish population. 26785368 Details
Variants Homo sapiens MS TNF Tumor Necrosis Factor Alpha Gene Polymorphism and Susceptibility to Multiple Sclerosis: An Egyptian Study The G allele in the examined position in tumor necrosis factor alpha might have a role as regards susceptibility in both remitting relapsing and primary progressive multiple sclerosis. 20499285 Details
Variants Homo sapiens MS CD58 The role of the CD58 locus in multiple sclerosis This protective rs2300747G allele is associated with a dose-dependent increase in CD58 mRNA expression in lymphoblastic cell lines (P ? 1.1 ? 10?10) and in peripheral blood mononuclear cells from MS subjects (P ? 0.0037). 19237575 Details
Variants Homo sapiens MS HLA-DRB1 Multiple Sclerosis and HLA: Is the Susceptibility Gene Really HLA-DR or -DQ? Our evidence is c~'Lsistenc w/th the hypethesir,that one of the true disease susceptibility genes for MS lies elsewhere within the HLA region and in Northern European populations is found in significant association with Dgwl5 ~nd DQw6. 1683865 Details
Variants Homo sapiens MS HLA-DQB1 Multiple Sclerosis and HLA: Is the Susceptibility Gene Really HLA-DR or -DQ? Our evidence is c~'Lsistenc w/th the hypethesir,that one of the true disease susceptibility genes for MS lies elsewhere within the HLA region and in Northern European populations is found in significant association with Dgwl5 ~nd DQw6. 1683865 Details
Variants Homo sapiens MS HLA-DRB1 Association between HLA-D region epitopes and multiple sclerosis in Arabs Those patients from the Mediterranean area showed an association ctf MS with HLA-DR2 (p <0.001) and -DQwl (p <0.05), whilst in those from the Gulf there was an association with -DRw53 (p <0.02). 2425452 Details
Variants Homo sapiens MS HLA-DQB1 Association between HLA-D region epitopes and multiple sclerosis in Arabs Those patients from the Mediterranean area showed an association ctf MS with HLA-DR2 (p <0.001) and -DQwl (p <0.05), whilst in those from the Gulf there was an association with -DRw53 (p <0.02). 2425452 Details
Variants Homo sapiens MS HLA-DRB1 Association between HLA-D region epitopes and multiple sclerosis in Arabs Those patients from the Mediterranean area showed an association ctf MS with HLA-DR2 (p <0.001) and -DQwl (p <0.05), whilst in those from the Gulf there was an association with -DRw53 (p <0.02). 2425452 Details
Variants Homo sapiens MS HAVCR2 The +4259A > C polymorphism of TIM-3 but not -1637C > T polymorphism of TIM-1 is associated with Multiple sclerosis in Isfahan population Our findings suggest that +4259 A > C polymorphism in TIM-3 gene may be one of the important genetic factors associated with the MS susceptibility among Iranian populations. 29141799 Details
Variants Homo sapiens MS HAVCR1 The +4259A > C polymorphism of TIM-3 but not -1637C > T polymorphism of TIM-1 is associated with Multiple sclerosis in Isfahan population We found that the polymorphism +4259 A > C in exon 3 of the TIM-3 gene is associated with sus-ceptibility to the MS but the other polymorphism,in the promoter region of TIM-1 is not (p= 0.064). 29141799 Details
Variants Homo sapiens MS RGS7 Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis In this follow-up study, we saturated the region with ~700 SNPs (average spacing of 10kb per SNP) in search of disease associated variation within this region. We found preliminary evidence to suggest that common variation within the RGS7 locus may be involved in disease susceptibility. 19626040 Details
Variants Homo sapiens MS HLA-A SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians We identified significant effects on MS susceptibility of HLA-A*2 (OR: 0.51; P = 0.05) and A*3 (OR: 2.85; P = 0.005), and two coding polymorphisms in the MOG gene (V145I: P = 0.01, OR: 2.2; V142L: P = 0.04,OR: 0.45) after full conditioning on HLA-DRB1. 17971048 Details
Variants Homo sapiens MS TRB Detection of skewed T-cell receptor V-b gene usage in the peripheral blood of patients with multiple sclerosis These data indicate that certain MS patients have abnormal TCRBV gene expression. Such abnormalities are caused by polyclonal expansions of T lymphocyte subpopulations that use the same TCRBV gene families, are unstable and preferentially observed early in the course of the disease 9626994 Details
Variants Homo sapiens MS LOC102724971 Clonal Expansion and Somatic Hypermutation of V H Genes of B Cells from Cerebrospinal Fluid in Multiple Sclerosis Our results demonstrate that in MS CSF, there is a high frequency of clonally expanded B cells that have properties of postgerminal center memory or antibody-forming lymphocytes. 9727074 Details
Variants Homo sapiens MS CYTH4 Dominant and Protective Role of the CYTH4 Primate-Specific GTTT-Repeat Longer Alleles Against Neurodegeneration indicating a dominant and protective effect for the longer alleles against neurodegeneration. 25823437 Details
Variants Homo sapiens MS CCR2 The +190 G/A (rs1799864) polymorphism in the C–C c h e m o k i n e receptor 2 (CCR2) gene is associated with susceptibility to multiple sclerosis in HLA-DRB1*15:01-negative individuals In conclusion,our results suggest that CCR2 +190 G/A polymorphism may increase the susceptibility to MS, but its action seems to be restricted to individuals who do not possess the major risk allele HLA-DRB1*15:01. 25604634 Details
Variants Homo sapiens MS IL32 Interleukin 32 gene promoter polymorphism: A genetic risk factor for multiple sclerosis in Kashmiri population. IL-32 gene promoter polymorphism is a genetic risk factor for multiple sclerosis patients particularly women. 35131367 Details
Variants Homo sapiens MS CD24 CD24 as a genetic modifier of disease progression in multiple sclerosis in Argentinean patients This study showed a strong association between the presence of AA genotype in the 1626 polymorphism of the CD24 gene and the risk of disease progression in MS patients. 21641619 Details
Variants Homo sapiens MS BDNF Polymorphisms of the BDNF gene show neither association with multiple sclerosis susceptibility nor clinical course No association was found for any of the SNPs to disease susceptibility or any clinical or demographic parameters including sex, age at onset, disease course, disease severity and cognitive impairment. 22341604 Details
Variants Homo sapiens MS HSPA4 Heat shock protein 70-hom gene polymorphism and protein expression in multiple sclerosis We reported a strong association between rs2227956 polymorphism and MS risk, which is independent from the association with HSP70-2 rs1061581, and a significant link between hsp70-hom protein expression and MS severity. 27609295 Details
Variants Homo sapiens MS CTLA4 Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients Our results suggest that the CTLA-4 + 49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms. 14975605 Details
Variants Homo sapiens MS HLA-DRB1 Multiple susceptibility loci for multiple sclerosis Analysis taking into account the known HLA-DR2 association identified two additional potential linkage regions on chromosomes 7q21–22 and 13q33–34 12217953 Details
Variants Homo sapiens MS TAP2 TAP2 polymorphisms in Australian multiple sclerosis patients The results of this study exclude TAP2 as a locus for a necessary MS/MHC gene but indicate that an MS gene carried by the DRBl* 1501, DQAl * 0102, DQBl* 0602 haplotype could reside centromeric of DQ. 7797612 Details
Variants Homo sapiens MS CTLA4 Polymorphism A/G in position +49 of CTLA4 exon 1 in multiple sclerosis in Russians The results showed that the CTLA4 dimorphism does not affect susceptibility to MS in ethnic Russians, be these stratified or not with regard to DRB1 alleles corresponding to serologic specificities DR1 to DR16. 12173468 Details
Variants Homo sapiens MS ADAMTS14 Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis These findings suggest a potentially important role for the ADAMTS14 gene in predisposition to MS. 15913795 Details
Variants Homo sapiens MS MBP A repetitive DNA sequence 5’ to the human myelin basic protein gene may be linked to MS in Danes Our study thus indicate that there is an association between MS and a length polymorphism of the 5’ I end to the MBP gene in Danish MS patients. 8739431 Details
Variants Homo sapiens MS IL7 Genetic association analysis of the interleukin 7 gene (IL7) in multiple sclerosis We conclude that the IL7 gene is very unlikely to influence the genetic susceptibility to MS in this population. 17913246 Details
Variants Homo sapiens MS TRBV20OR9-2 Limited Junctional Diversity of 5-J b I Rearrangement in Multiple Sclerosis Patients The clonal nature of this rearrangement proved by PAGE and sequencing analysis may suggest an antigen- driven expansion of 76T cells and argues for a significant role of 7~ T-cells with V65-J61 rearrangement in MS pathogenesis. 9138431 Details
Variants Homo sapiens MS TRBV20OR9-2 T cell receptor b chain genotyping in Australian relapsing-remitting multiple sclerosis patients These results support the involvement of the TCRB region in MS susceptibility and encourage further study of the variable gene segments in this region 10871824 Details
Variants Homo sapiens MS IL-1B Association of Interleukin-1 and Inteleukin-1 Receptor Antagonist Gene Polymorphisms with Multiple Sclerosis in Azeri Population of Iran Polymorphisms of the IL-1B genes and common alleles of IL-1RA were not considered as risk factors for MS disease. However, genotype TT at IL-1A (-889) location and the rare allele of IL-1RA3 can be a potential risk factor for the disease. Furthermore, inappropriate dieting behaviors and consumption of fast-food can increase the risk of MS. 32148206 Details
Variants Homo sapiens MS IL1RN Association of Interleukin-1 and Inteleukin-1 Receptor Antagonist Gene Polymorphisms with Multiple Sclerosis in Azeri Population of Iran Polymorphisms of the IL-1B genes and common alleles of IL-1RA were not considered as risk factors for MS disease. However, genotype TT at IL-1A (-889) location and the rare allele of IL-1RA3 can be a potential risk factor for the disease. Furthermore, inappropriate dieting behaviors and consumption of fast-food can increase the risk of MS. 32148206 Details
Variants Homo sapiens MS HLA-DRB1 Immunogenetics of optic neuritis in children with multiple sclerosis A very strong correlation of demielinating disease with DRB1*150 ... alleles was verified. 12506649 Details
Variants Homo sapiens MS CHI3L1 Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis Allele C of rs4950928 was significantly associated with PPMS patients and with higher plasma CHI3L1 levels. 22183936 Details
Variants Homo sapiens MS GSTT1 Glutathione-S-transferase T1 and M1 gene polymorphisms in Greek patients with multiple sclerosis: a pilot study The results suggest that GSTT1 and GSTM1 have no major pathogenetic role on the MS occurrence, nor any strong modifying effect on the disability status 17437619 Details
Variants Homo sapiens MS GSTM1 Glutathione-S-transferase T1 and M1 gene polymorphisms in Greek patients with multiple sclerosis: a pilot study The results suggest that GSTT1 and GSTM1 have no major pathogenetic role on the MS occurrence, nor any strong modifying effect on the disability status 17437619 Details
Variants Homo sapiens MS CD24 A Dinucleotide Deletion in CD24 Confers Protection against Autoimmune Diseases Our results demonstrate that a destabilizing dinucleotide deletion in the 39 UTR of CD24 mRNA conveys significant protection against both MS and SLE. 17411341 Details
Variants Homo sapiens MS HLA-DRB1 DRB1–DQA1–DQB1 loci and multiple sclerosis predisposition in the Sardinian population Cross-ethnic comparison between the two HLA haplotypes associated with MS in Sardi-nians and the DRB1*1501 (DR2)–DQA1*0102–DQB1*0602 haplotype, associated with MS in other Caucasian populations, failed to identify any shared epitopes in the DR and DQ molecules that segregated with disease sus-ceptibility. 9668164 Details
Variants Homo sapiens MS HLA-DQA1 DRB1–DQA1–DQB1 loci and multiple sclerosis predisposition in the Sardinian population Cross-ethnic comparison between the two HLA haplotypes associated with MS in Sardi-nians and the DRB1*1501 (DR2)–DQA1*0102–DQB1*0602 haplotype, associated with MS in other Caucasian populations, failed to identify any shared epitopes in the DR and DQ molecules that segregated with disease sus-ceptibility. 9668164 Details
Variants Homo sapiens MS HLA-DQB1 DRB1–DQA1–DQB1 loci and multiple sclerosis predisposition in the Sardinian population Cross-ethnic comparison between the two HLA haplotypes associated with MS in Sardi-nians and the DRB1*1501 (DR2)–DQA1*0102–DQB1*0602 haplotype, associated with MS in other Caucasian populations, failed to identify any shared epitopes in the DR and DQ molecules that segregated with disease sus-ceptibility. 9668164 Details
Variants Homo sapiens MS NOS2A Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis The very largest study of NOS2A variation in MS, to date, excludes even a modest role for this locus in susceptibility. 18580885 Details
Variants Homo sapiens MS OAS1 OAS1: a multiple sclerosis susceptibility gene that influences disease severity A functional OAS1 SNP, AA genotype, confers susceptibility to MS and the GG genotype may protect against increased disease activity. 20679634 Details
Variants Homo sapiens MS CD40 CD40:Novel Association with Crohn’s Disease and Replication in Multiple Sclerosis Susceptibility The impact of CD40 rs1883832 on MS and CD risk points to a common signaling shared by these autoimmune conditions. 20634952 Details
Variants Homo sapiens MS RAC2 An Evolutionary Analysis of RAC2 Identifies Haplotypes Associated with Human Autoimmune Diseases Results suggest that a region covering the 3#untranslated region has been a target of multiallelic balancing selection (or diversifying selection), and three major RAC2 haplogroups occur in human populations. Haplotypes belonging to one of these clades are associated with increased susceptibility to multiple sclerosis (P 5 0.022) and earlier onset of disease symptoms (P 5 0.025). 21680873 Details
Variants Homo sapiens MS VDR Vitamin D Responsive Elements within the HLA-DRB1 Promoter Region in Sardinian Multiple Sclerosis Associated Alleles These data seem to exclude a role of VDREs in the promoter region of the DRB1 gene in susceptibility to MS carried by DRB1* alleles in Sardinian patients. 22848563 Details
Variants Homo sapiens MS MMP9 Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study These results suggest that a genetic polymorphism of the MMP-9 promoter region may influence the susceptibility to MS 20471697 Details
Variants Homo sapiens MS HLA-DRB1 Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis Among those with both genetic risk factors, smoking increased the risk by a factor of 2.8 in comparison with a factor of 1.4 among those without the genetic risk factors. 21303861 Details
Variants Homo sapiens MS HLA-A Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis Among those with both genetic risk factors, smoking increased the risk by a factor of 2.8 in comparison with a factor of 1.4 among those without the genetic risk factors. 21303861 Details
Variants Homo sapiens MS HLA-DRB1 HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility These findings strongly imply that differences among HLA-DRB1*15 haplotypes will furnish the basis differences among HLA-DRB1*15 haplotypes will furnish the basis that the MHC haplotype is the fundamental unit of genetic control of immune response. 18765817 Details
Variants Homo sapiens MS FCRL3 The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosis Genotype and allele frequencies of two SNPs (rs7528684/FCRL3_3 and rs7522061/N28D), which were in high linkage disequilibrium (r2 = 0.87), differed between MS cases and controls. The 18313765 Details
Variants Homo sapiens MS FCRL3 The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosis Genotype and allele frequencies of two SNPs (rs7528684/FCRL3_3 and rs7522061/N28D), which were in high linkage disequilibrium (r2 = 0.87), differed between MS cases and controls. The 18313765 Details
Variants Homo sapiens MS FCRL3 The high producer variant of the Fc-receptor like-3 (FCRL3) gene is involved in protection against multiple sclerosis The C allele of FCRL3_3 was found to be protective for MS (per allele OR = 0.81, 95% C.I. = 0.70–0.94; P-value = 0.007) as was the G variant of N28D, but no association was found for rs11264799/FCRL3_4. 18313765 Details
Variants Homo sapiens MS LMNB1 Mutations in the lamin B1 gene are not present in multiple sclerosis Our work indicates that lamin B1 defects are probably not responsible for signs and symptoms resembling multiple sclerosis. 19348623 Details
Variants Homo sapiens MS MBP No evidence for transmission disequilibrium between a new marker at the myelin basic protein locus and multiple sclerosis in French patients The myelin basic protein (MBP) gene is a candidate locus for susceptibility to multiple sclerosis. 11197688 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis TT genotype for VDR FokI (rs2228570) polymorphism was associated with higher risk of MS (P = 0.0150; OR = 1.82; 95% CI = 1.12-2.94; TT vs. CT + CC). 33044390 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis We found no influence of the ApaI (rs7975232), BsmI (rs1544410), Cdx2 (rs11568820), FokI (rs2228570), and TaqI (rs731236) gene polymorphisms on the risk of developing MS in our patients. 33044390 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis We found no influence of the ApaI (rs7975232), BsmI (rs1544410), Cdx2 (rs11568820), FokI (rs2228570), and TaqI (rs731236) gene polymorphisms on the risk of developing MS in our patients. 33044390 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis We found no influence of the ApaI (rs7975232), BsmI (rs1544410), Cdx2 (rs11568820), FokI (rs2228570), and TaqI (rs731236) gene polymorphisms on the risk of developing MS in our patients. 33044390 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis We found no influence of the ApaI (rs7975232), BsmI (rs1544410), Cdx2 (rs11568820), FokI (rs2228570), and TaqI (rs731236) gene polymorphisms on the risk of developing MS in our patients. 33044390 Details
Variants Homo sapiens MS VDR Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis We found no influence of the ApaI (rs7975232), BsmI (rs1544410), Cdx2 (rs11568820), FokI (rs2228570), and TaqI (rs731236) gene polymorphisms on the risk of developing MS in our patients. 33044390 Details
Variants Homo sapiens MS IL7R Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population In conclusion, this is the first study to show a significant association between the IL7R promoter polymorphisms and the age of onset of MS 30443838 Details
Variants Homo sapiens MS IL7R Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population In conclusion, this is the first study to show a significant association between the IL7R promoter polymorphisms and the age of onset of MS 30443838 Details
Variants Homo sapiens MS IL7R Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population In conclusion, this is the first study to show a significant association between the IL7R promoter polymorphisms and the age of onset of MS 30443838 Details
Variants Homo sapiens MS BDNF Effect of Met66 allele of the BDNF rs6265 SNP on regional gray matter volumes in patients with multiple sclerosis: A voxel-based morphometry study Based on the overlapping regions from the VBM and TFCE method, we surmise that regions in the cingulate have higher GM volumes in MS patients with the Met66 allele of BDNF. 20478698 Details
Variants Homo sapiens MS NLRP3 Association of nod-like receptor protein-3 single nucleotide gene polymorphisms and expression with the susceptibility to relapsing-remitting multiple sclerosis In this study, we found that NLRP3 rs3806265 C allele and CC genotype were significantly more frequent in the RRMS patients (p value = 0.03 OR = 1.66, 95% CI = 1.14-2.43) and p value = 0.04, OR = 3.26, 95% CI = 1.19-8.93, respectively), while the frequency of T allele significantly decreased in controls (p value = 0.03, OR = 0.6, 95% CI = 0.41-0.87). The frequency of CG genotype at position rs10754558 was also significantly higher in the controls compared with patients (p value = 0.03, OR = 0.5, 95% CI = 0.30-0.80). 30264444 Details
Variants Homo sapiens MS NLRP3 Association of nod-like receptor protein-3 single nucleotide gene polymorphisms and expression with the susceptibility to relapsing-remitting multiple sclerosis In this study, we found that NLRP3 rs3806265 C allele and CC genotype were significantly more frequent in the RRMS patients (p value = 0.03 OR = 1.66, 95% CI = 1.14-2.43) and p value = 0.04, OR = 3.26, 95% CI = 1.19-8.93, respectively), while the frequency of T allele significantly decreased in controls (p value = 0.03, OR = 0.6, 95% CI = 0.41-0.87). The frequency of CG genotype at position rs10754558 was also significantly higher in the controls compared with patients (p value = 0.03, OR = 0.5, 95% CI = 0.30-0.80). 30264444 Details
Variants Homo sapiens MS IL7R Investigating the exon 6 sequence changes of interleukin 7 receptor A (IL7RA) gene in patients with relapsing-remitting multiple sclerosis The allelic and genotypic estimated frequencies of a reported risk variant rs6897932 in patients and controls in our population confirmed its association with the disease (P= 0.009, OR = 6.273, for TT genotype). Also, we report a possible hazardous cutoff for changes in a potential exon splicing silencer element (ESS (nt. 20-24)) and its correlation with rs6897932 to confer the risk of developing MS. 28582853 Details
Variants Homo sapiens MS GSTP1 The GSTP1 gene variant rs1695 is not associated with an increased risk of multiple sclerosis Among MS patients, there was no relationship between the rs1695 variant and either gender, clinical type of MS or the age of onset of MS. 25531394 Details
Variants Homo sapiens MS VDR Positive association of vitamin D receptor gene variations with multiple sclerosis in South East Iranian population The frequency of C allele of TaqI polymorphism was significantly higher in patients than in controls (P values < 0.0001; OR = 18.9, 95% CI in 11.6–30.3); it can be concluded that allele C showed positive association and allele T showed negative association with MS. 25685788 Details
Variants Homo sapiens MS VDR Positive association of vitamin D receptor gene variations with multiple sclerosis in South East Iranian population In the ApaI single nucleotide polymorphism investigation (rs7975232), homozygote genotype CC was significantly higher in patients (P = 0.036; OR = 3.4, 95% CI in 1.1–10.4) in comparison to controls. However, the AA genotype frequency indicated negative associations with MS too. 25685788 Details
Variants Homo sapiens MS TLR3 Investigation of the [-/A]8 and C1236T genetic variations within the human Toll-like receptor 3 gene for association with multiple sclerosis Although the role of TLR3 and the wider toll-like receptor family remain significant in neurological and CNS inflammatory disorders, our current work does not support a role for the two tested variants in this gene with regard to MS susceptibility. 20483009 Details
Variants Homo sapiens MS TLR3 Investigation of the [-/A]8 and C1236T genetic variations within the human Toll-like receptor 3 gene for association with multiple sclerosis Although the role of TLR3 and the wider toll-like receptor family remain significant in neurological and CNS inflammatory disorders, our current work does not support a role for the two tested variants in this gene with regard to MS susceptibility. 20483009 Details
Variants Homo sapiens MS HLA-G The genetic influence of the nonclassical MHC molecule HLA-G on multiple sclerosis No association was seen with the age of onset of disease, disease severity or disease course. Although HLA-G is assumed to play an important role in the immunoregulatory processes of MS, our results do not support a role of genetic factors influencing disease susceptibility of the disease course. 17462509 Details
Variants Homo sapiens MS HLA-G The genetic influence of the nonclassical MHC molecule HLA-G on multiple sclerosis No association was seen with the age of onset of disease, disease severity or disease course. Although HLA-G is assumed to play an important role in the immunoregulatory processes of MS, our results do not support a role of genetic factors influencing disease susceptibility of the disease course. 17462509 Details
Variants Homo sapiens MS HLA-G The genetic influence of the nonclassical MHC molecule HLA-G on multiple sclerosis No association was seen with the age of onset of disease, disease severity or disease course. Although HLA-G is assumed to play an important role in the immunoregulatory processes of MS, our results do not support a role of genetic factors influencing disease susceptibility of the disease course. 17462509 Details
Variants Homo sapiens MS APOE Association of apolipoprotein E polymorphism to clinical heterogeneity of multiple sclerosis Later onset of chronic progressive MS was observed in patients carrying the epsilon2 allele, whereas APO E alleles were found at similar frequency in MS and in the control population.These findings indicate that clinical heterogeneity, but probably not susceptibility to the disease, is associated to APO E genotypes. 11109009 Details
Variants Homo sapiens MS CD80 Genetic variation in the B7-1 gene in patients with multiple sclerosis We identified five genetic variants. None alter protein structure nor have apparent functional significance. Selected variants of sufficient frequency were tested for an association with course and severity of MS and one was tested for an association with susceptibility; none of the association tests were positive. 10742561 Details
Variants Homo sapiens MS ERV3-1 Three allelic forms of the human endogenous retrovirus, ERV3, and their frequencies in multiple sclerosis patients and healthy individuals Neither was there a significant difference in the distribution of the three alleles between MS patients with the progressive form and patients with relapsing/remitting MS. Our results are not in support of an association between ERV3 and MS. 8871766 Details
Variants Homo sapiens MS HLA-DPB1 HLA-DPB1 gene polymorphism and multiple sclerosis: a large case-control study in the southwest of France The distribution of the DPB1 alleles was not significantly different in multiple sclerosis patients and controls (p = 0.11). 1918327 Details
Variants Homo sapiens MS TRB Discordance of T-cell receptor beta-chain genes in familial multiple sclerosis For the autosomal recessive model with a penetrance range from 0.1 to 1.0, the LOD scores ranged from -8.20 to -32.98. These findings do not support a direct role of T-cell receptor beta-chain gene in the inheritance of MS. 1683213 Details
Variants Homo sapiens MS HLA-DPB1 HLA-DR beta, -DQ alpha, and -DQ beta restriction fragment length polymorphisms in multiple sclerosis We detected no polymorphisms of DR beta, DQ alpha, or DQ beta genes among the DR2+ MS patients which distinguished them from normals. 2568496 Details
Variants Homo sapiens MS C3 C3 polymorphism and circulating immune complexes in patients with multiple sclerosis A significantly increased frequency of the C3F-gene was found among the patients, and closely associated with the occurrence of CIC. 7211174 Details
Variants Homo sapiens MS P2RX7 Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis Although being preliminary and needing confirmation in an ampler cohort, these results suggest that 348Thr and 464Arg variants have a role as modulators of disease severity in RRMS patients. 36499708 Details
Variants Homo sapiens MS P2RX7 Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis Although being preliminary and needing confirmation in an ampler cohort, these results suggest that 348Thr and 464Arg variants have a role as modulators of disease severity in RRMS patients. 36499708 Details
Variants Homo sapiens MS ANKRD55 Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population We could successfully replicate the association of ANKRD55 (rs6859219) with susceptibility to MS in the Iranian population. 33491520 Details
Variants Homo sapiens MS MMEL1 Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population There was no significant difference in genotypic frequencies of SNP rs3748816 in MMEL1. 33491520 Details
Variants Homo sapiens MS MANBA Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation Our work provides new evidence highlighting the impact of the MS-risk variant, rs7665090, and the role of MANBA in the immunopathology of MS. 35897697 Details
Variants Homo sapiens MS L3MBTL3 Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis Our data and other functional studies suggest that the genetic mechanism underlying the MS association of rs7740107 affects not only the expression of L3MBTL3 isoforms, but might also involve the Notch signalling pathway. 35088080 Details
Variants Homo sapiens MS TNF Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis The TNF-α-308 AA genotype and A allele could be related to disability progression and severity of MS and the IL-18-607 AA genotype A allele could be related to susceptibility of the disease in the Egyptian cohort. 33302229 Details
Variants Homo sapiens MS IL18 Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis The TNF-α-308 AA genotype and A allele could be related to disability progression and severity of MS and the IL-18-607 AA genotype A allele could be related to susceptibility of the disease in the Egyptian cohort. 33302229 Details
Variants Homo sapiens MS IL16 Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis The IL-16 (rs4072111 C/T) polymorphism was not polymorphic in both MS patients and the healthy volunteers. 33302229 Details
Variants Homo sapiens MS IDO2 Indoleamine-2,3-dioxygenase(IDO)2 polymorphisms are not associated with multiple sclerosis in Italians IDO2 rs10109853 and rs4503083 polymorphisms are not associated with MS risk, age at onset and disease progression in Italian MS patients. 28477703 Details
Variants Homo sapiens MS IDO2 Indoleamine-2,3-dioxygenase(IDO)2 polymorphisms are not associated with multiple sclerosis in Italians IDO2 rs10109853 and rs4503083 polymorphisms are not associated with MS risk, age at onset and disease progression in Italian MS patients. 28477703 Details
Variants Homo sapiens MS RORA RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis In the present study we investigated the effect of the rs11639048 and rs4774388 SNPs in the RORΑ gene on individual susceptibility to MS. 27653902 Details
Variants Homo sapiens MS RORA RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis In the present study we investigated the effect of the rs11639048 and rs4774388 SNPs in the RORΑ gene on individual susceptibility to MS. 27653902 Details
Variants Homo sapiens MS CBS Genetic variants of homocysteine metabolism and multiple sclerosis: a case-control study Conclusively, mutant variants of CBS and RFC1 may be associated with the age of RRMS onset. 24412677 Details
Variants Homo sapiens MS RFC1 Genetic variants of homocysteine metabolism and multiple sclerosis: a case-control study Conclusively, mutant variants of CBS and RFC1 may be associated with the age of RRMS onset. 24412677 Details
Variants Homo sapiens MS GRIN1 Opposite roles of NMDA receptors in relapsing and primary progressive multiple sclerosis The C allele of rs4880213 was found to be associated with reduced NMDAR-mediated cortical excitability, and with increased probability of having more disability than the CT/TT MS subjects. 23840674 Details
Variants Homo sapiens MS CASP8 Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis GG homozygosity for SNP rs2037815 in PPMS patients was associated with a trend towards faster disease progression. 20363033 Details
Variants Homo sapiens MS CASP8 Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis For SNP rs12990906, CT heterozygosity was associated with PPMS when compared with controls (OR= 1.9; corrected p-value= 0.030). 20363033 Details
Variants Homo sapiens MS CASP8 Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis For SNP rs13113, no significant associations at the allele or genotype levels were found between MS patients with different clinical forms and controls. 20363033 Details
Variants Homo sapiens MS MYO3B MYO9B polymorphisms in multiple sclerosis To ensure the power to detect variants with a modest effect size, we further analyzed 10 variants in 899 Finnish cases and 1325 controls, and in a total of 1521 cases and 1476 controls from Denmark, Norway and Sweden, but found no association. Our results thereby do not support a major function of the tested MYO9B variants in MS. 19142207 Details
Variants Homo sapiens MS MYO3B MYO9B polymorphisms in multiple sclerosis To ensure the power to detect variants with a modest effect size, we further analyzed 10 variants in 899 Finnish cases and 1325 controls, and in a total of 1521 cases and 1476 controls from Denmark, Norway and Sweden, but found no association. Our results thereby do not support a major function of the tested MYO9B variants in MS. 19142207 Details
Variants Homo sapiens MS VDR Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis No association of Fok-I VDR genotype with MS 19178954 Details
Variants Homo sapiens MS APOE Polymorphisms of apolipoprotein E and Japanese patients with multiple sclerosis Although the low rate of epsilon4 allele in Japan should be taken into consideration, our results showed no relation between APOE gene polymorphisms and Japanese patients with MS. 12926843 Details
Variants Homo sapiens MS HLA-DRB1 Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQB1 alleles The putative class II haplotype DRB 1" 1501-DQA 1"0102-DQB 1"0602 was found to be positively associated with MS in our Swedish patients. 8181961 Details
Variants Homo sapiens MS FOXO3 The effect of FOXO gene family variants and global DNA metylation on RRMS disease In addition, it has been determined that variants of FOXO3a (rs2253310, rs4966936) and FOXO1 (rs3900833), which have been genotyped, may be effective in disease pathogenesis. 31759981 Details
Variants Homo sapiens MS FOXO3 The effect of FOXO gene family variants and global DNA metylation on RRMS disease In addition, it has been determined that variants of FOXO3a (rs2253310, rs4966936) and FOXO1 (rs3900833), which have been genotyped, may be effective in disease pathogenesis. 31759981 Details
Variants Homo sapiens MS FOXO1 The effect of FOXO gene family variants and global DNA metylation on RRMS disease In addition, it has been determined that variants of FOXO3a (rs2253310, rs4966936) and FOXO1 (rs3900833), which have been genotyped, may be effective in disease pathogenesis. 31759981 Details
Variants Homo sapiens MS IL12B IL12B gene polymorphisms have sex-specific effects in relapsing-remitting multiple sclerosis Our results suggest that sex-specific effects of IL12B polymorphisms, rs17860508 and rs3212227, on genetic predisposition and disease course of RRMS, is probably mediated by their gender-dependent functional effect on IL-12p40-containing cytokines. 30554348 Details
Variants Homo sapiens MS IL12B IL12B gene polymorphisms have sex-specific effects in relapsing-remitting multiple sclerosis Our results suggest that sex-specific effects of IL12B polymorphisms, rs17860508 and rs3212227, on genetic predisposition and disease course of RRMS, is probably mediated by their gender-dependent functional effect on IL-12p40-containing cytokines. 30554348 Details
Variants Homo sapiens MS EVI5 Ecotropic Viral Integration Site 5 (EVI5) variants are associated with multiple sclerosis in Iranian population The allele and genotype frequencies of rs6680578 and rs11810217 were not significantly different between cases and controls. 29141798 Details
Variants Homo sapiens MS EVI5 Ecotropic Viral Integration Site 5 (EVI5) variants are associated with multiple sclerosis in Iranian population The allele and genotype frequencies of rs6680578 and rs11810217 were not significantly different between cases and controls. 29141798 Details
Variants Homo sapiens MS PDCD1 PD-1 gene polymorphic variation is linked with first symptom of disease and severity of relapsing-remitting form of MS Our population-based case-control study, investigating selected three PD-1 SNPs: PD-1.3, PD-1.5 and PD-1.9, revealed that polymorphic variation may be rather disease-modifying than MS risk factor. 28284331 Details
Variants Homo sapiens MS PDCD1 PD-1 gene polymorphic variation is linked with first symptom of disease and severity of relapsing-remitting form of MS Our population-based case-control study, investigating selected three PD-1 SNPs: PD-1.3, PD-1.5 and PD-1.9, revealed that polymorphic variation may be rather disease-modifying than MS risk factor. 28284331 Details
Variants Homo sapiens MS PDCD1 PD-1 gene polymorphic variation is linked with first symptom of disease and severity of relapsing-remitting form of MS Our population-based case-control study, investigating selected three PD-1 SNPs: PD-1.3, PD-1.5 and PD-1.9, revealed that polymorphic variation may be rather disease-modifying than MS risk factor. 28284331 Details
Variants Homo sapiens MS ERAP1 A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis In summary, we report that a functional ERAP1 allele previously associated to AS confers susceptibility to MS in Italian populations, whereas its role in predisposing to CD remains to be evaluated. 22253828 Details
Variants Homo sapiens MS GRN Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males An association with the rs2879096T allele was observed (29.2 in patients compared with 18.9% in controls, P=0.012, OR 1.77, 95% CI 1.1-2.8). 20463744 Details
Variants Homo sapiens MS CIITA CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis Rs4774 (missense +1614G/C; G500A) was associated with MS (P = 4.9 x 10(-3)), particularly in DRB1*1501 +individuals (P = 1 x 10(-4)). 20211854 Details
Variants Homo sapiens MS SPARCL1 Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis One hundred eighty-six patients with MS and 185 age-matched controls were genotyped for A/G single nucleotide polymorphism (SNP) in exon 1 (rs1049539), C/G SNP in exon 4 (rs1049544), resulting in a substitution of an aspartate with an histidine, and A/G substitution in the exon 5 (rs1130643), leading to the substitution of alanine with threonine. No significant differences in either allelic or genotypic frequency of the three SNPs were found (P>0.05), even in stratifying MS patients according to the course of the disease. 17825989 Details
Variants Homo sapiens MS SPARCL1 Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis One hundred eighty-six patients with MS and 185 age-matched controls were genotyped for A/G single nucleotide polymorphism (SNP) in exon 1 (rs1049539), C/G SNP in exon 4 (rs1049544), resulting in a substitution of an aspartate with an histidine, and A/G substitution in the exon 5 (rs1130643), leading to the substitution of alanine with threonine. No significant differences in either allelic or genotypic frequency of the three SNPs were found (P>0.05), even in stratifying MS patients according to the course of the disease. 17825989 Details
Variants Homo sapiens MS SPARCL1 Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis One hundred eighty-six patients with MS and 185 age-matched controls were genotyped for A/G single nucleotide polymorphism (SNP) in exon 1 (rs1049539), C/G SNP in exon 4 (rs1049544), resulting in a substitution of an aspartate with an histidine, and A/G substitution in the exon 5 (rs1130643), leading to the substitution of alanine with threonine. No significant differences in either allelic or genotypic frequency of the three SNPs were found (P>0.05), even in stratifying MS patients according to the course of the disease. 17825989 Details
Variants Homo sapiens MS HLA-DRB1 DRB1-environment interactions in multiple sclerosis etiology: results from two Swedish case-control studies The effect of each DRB1*15:01 allele on MS risk was additive on the log-odds scale for each additional allele. Interaction between DRB1*15:01 and each assessed environmental factor was of similar magnitude regardless of the number of DRB1*15:01 alleles, although ORs were affected. When any of the environmental factors were present in DRB1*15:01 carriers without the protective A*02:01 allele, a three-way interaction occurred and rendered high ORs, especially among DRB1*15:01 homozygotes (OR 20.0, 95% CI 13.1 to 30.5 among smokers, OR 21.9, 95% CI 15.0 to 31.8 among those with elevated EBNA-1 antibody levels, and OR 44.3, 95% CI 13.5 to 145 among those who reported adolescent overweight/obesity). 33687974 Details
Variants Homo sapiens MS PLCG2 PLCG2 rs72824905 Variant Reduces the Risk of Alzheimer's Disease and Multiple Sclerosis Importantly, rs72824905 G allele could also significantly reduce the risk of MS with OR = 0.94, p = 3.63E-05. Hence, the effects of rs72824905 on AD and MS are consistent. 33523007 Details
Variants Homo sapiens MS HTR2A Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients HTR2A is differentially methylated in progressive MS independent of genotype. This differential methylation is not evident in RRMS, making it a potential biomarker of progressive disease. 33335118 Details
Variants Homo sapiens MS CD33 Multiple Sclerosis: Shall We Target CD33? Therefore, we could assume that the CD33 rs3865444 GG genotype predisposes towards MS by increasing CD33 cell surface expression and decreasing the alternatively spliced CD33m variant, thus altering myeloid cells function. 33198164 Details
Variants Homo sapiens MS CD58 A genetic variant associated with multiple sclerosis inversely affects the expression of CD58 and microRNA-548ac from the same gene To conclude, our analysis suggests that SNP rs1414273 is possibly implicated in the development of MS. 30730892 Details
Variants Homo sapiens MS AHI1 The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults After adjustment for genetic ancestry, sex, age, vitamin D level, DMT use and HLA-DRB1*15 status, having two copies of the MS risk allele within AHI1 (rs11154801) was associated with increased relapses among children (HR = 1.75,95%CI = 1.18-2.48, p = 0.006) and this result was also observed among adults (HR = 1.81,95%CI = 1.05-3.03, p = 0.026). 29409597 Details
Variants Homo sapiens MS VDR Age- and gender-specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study However, neither the genotype nor the allele frequency distribution was significantly different between the MS and control populations for the ApaI SNP. 25892553 Details
Variants Homo sapiens MS VDR Age- and gender-specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study Our results show a significant difference of the allelic frequency distribution between the case and control groups for TaqI SNP (P = 0.01), but genotype frequencies were not significantly different (P = 0.07 and 0.23). 25892553 Details
Variants Homo sapiens MS TNFRSF1A TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis By analysing MS GWAS data in conjunction with the 1000 Genomes Project data we provide genetic evidence that strongly implicates this SNP, rs1800693, as the causal variant in the TNFRSF1A region. 22801493 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II alleles and multiple sclerosis in Tunisian patients An association of MS with HLA-DRB1*15 was found (14.7% vs 3.8%, OR (95% CI)=4.34 (1.69-11.39), p(c)=2.5×10(-3)) after Bonferroni's correction. Moreover, the DRB1*15-DQB1*06 (13.8% vs 2.8%, OR (95% CI)=5.44 (1.92-17.41), p(c)=1.1×10(-3)) and DRB1*04-DQB1*04 (8.6% vs 1.9%, OR (95% CI)=4.86 (1.36-21.62), p(c)=0.028) haplotypes were found to confer a susceptibility to multiple sclerosis. 20691532 Details
Variants Homo sapiens MS HLA-DRB1 Clinical profile and HLA-DRB1 genotype of late onset multiple sclerosis in Western Australia HLA-DRB1 *1501 was strongly associated with both LOMS and EOMS compared to the Control subjects, while HLA-DRB1 *0801 was over-represented in patients with LOMS. 20580995 Details
Variants Homo sapiens MS APOE [The absence of a relation between apolipoprotein E genotypes and the severity of multiple sclerosis in Mexican patients] Our results do not suggest any association between the presence of the ApoE epsilon-4 allele and the progression of disability in patients with MS in our sample. 20073019 Details
Variants Homo sapiens MS CCR5 CCR5-delta 32 allele is associated with the risk of developing multiple sclerosis in the Iranian population According to our study, the delta 32 allele of the CCR5 gene might be a predisposing factor for MS development in the Iranian population. 19479371 Details
Variants Homo sapiens MS CTLA4 Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study A common variant within CTLA4 was strongly associated with multiple sclerosis in families who had other autoimmune diseases (p=0.009) but not in families without a history of other autoimmune disorders (p=0.90). 17052659 Details
Variants Homo sapiens MS CCR5 A mutated CCR5 gene may have favorable prognostic implications in MS Progression to disability was prolonged in Delta32CCR5 homozygotes and heterozygotes compared with MS patients with the CCR5 wild-type genotype (p < 0.005). Mutated CCR5 allele may be considered a favorable prognostic factor in MS. 12874407 Details
Variants Homo sapiens MS MAG Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3. 12020971 Details
Variants Homo sapiens MS SH2D2A The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis No linkage or association of MS to four genetic markers flanking the SH2D2A gene was observed. 11528519 Details
Variants Homo sapiens MS HLA-DRB1 HLA-DR15 is associated with lower age at onset in multiple sclerosis We found that, in addition to DR15, DR17 is positively associated with susceptibility to MS; that none of the HLA-DRB1 alleles influences course or outcome in MS; that carriers of DR15 are prone to MS development at an earlier age than noncarriers; and that differences in DR15 positivity rates, after stratification for diagnostic category and examination results, seem to reflect a gradient of phenocopy contamination, with rates increasing in proportion to the degree of clinical or paraclinical verification of the MS diagnosis. 10939572 Details
Variants Homo sapiens MS HLA-DRB1 HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews The haplotype DRB1*1501, DQA1*0102, DQB1*0602 was found to be associated with MS among both Ashkenazi and non-Ashkenazi patients (P<.001 and P =.04, respectively). 10328250 Details
Variants Homo sapiens MS HLA-DQA1 HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews The haplotype DRB1*1501, DQA1*0102, DQB1*0602 was found to be associated with MS among both Ashkenazi and non-Ashkenazi patients (P<.001 and P =.04, respectively). 10328250 Details
Variants Homo sapiens MS HLA-DQB1 HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews The haplotype DRB1*1501, DQA1*0102, DQB1*0602 was found to be associated with MS among both Ashkenazi and non-Ashkenazi patients (P<.001 and P =.04, respectively). 10328250 Details
Variants Homo sapiens MS HRES1 Possible association between multiple sclerosis and the human T cell leukemia virus (HTLV)-related endogenous element, HRES-1 However, we found a significant difference in the distribution of these alleles between a group of 87 MS patients and a control group of 158 healthy individuals (P = 0.014). There were no differences in the distribution of the HRES-1 allelic forms between MS patients with a relapsing-remitting course and patients with chronic progressive MS. 9345377 Details
Variants Homo sapiens MS TAP1 MHC-encoded TAP1 and TAP2 dimorphisms in multiple sclerosis Previous studies have suggested that linkage disequilibrium may occur between TAP loci and some alleles of HLA-DR; in particular, linkage disequilibrium was observed between TAP2 and HLA-DR and -DQ, with evidence that a recombination hot spot may exist between TAP1 and TAP2. 8016841 Details
Variants Homo sapiens MS TAP2 MHC-encoded TAP1 and TAP2 dimorphisms in multiple sclerosis Previous studies have suggested that linkage disequilibrium may occur between TAP loci and some alleles of HLA-DR; in particular, linkage disequilibrium was observed between TAP2 and HLA-DR and -DQ, with evidence that a recombination hot spot may exist between TAP1 and TAP2. 8016841 Details
Variants Homo sapiens MS HLA-DRB1 Contribution of a single DQ beta chain residue to multiple sclerosis in French Canadians In this relatively homogeneous ethnic group, MS was positively associated with DRB5*0101, DQB1*0602, and DQA1*0102 and negatively associated with DQB1*0301. 1429036 Details
Variants Homo sapiens MS HLA-DQB1 Contribution of a single DQ beta chain residue to multiple sclerosis in French Canadians In this relatively homogeneous ethnic group, MS was positively associated with DRB5*0101, DQB1*0602, and DQA1*0102 and negatively associated with DQB1*0301. 1429036 Details
Variants Homo sapiens MS HLA-DQA1 Contribution of a single DQ beta chain residue to multiple sclerosis in French Canadians In this relatively homogeneous ethnic group, MS was positively associated with DRB5*0101, DQB1*0602, and DQA1*0102 and negatively associated with DQB1*0301. 1429036 Details
Variants Homo sapiens MS HLA-DPB1 HLA-DP beta and susceptibility to multiple sclerosis: an analysis of caucasoid and Japanese patient populations In contrast to previous reports, no DP beta allele was found to be increased in either patient population. 2391251 Details
Variants Homo sapiens MS LRP2 Smoking, cardiovascular risk factors and LRP2 gene variation: Associations with disease severity, cognitive function and brain structure in primary progressive multiple sclerosis The LRP2 risk allele was associated with decreased performance on the California Verbal Learning Test 2 after correction (CC vs. CT+TT 95% CI -14.2--3.4, p = 0.0018). 34678704 Details
Variants Homo sapiens MS SIRPG Altered expression of SIRPγ on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells As compared to HD, RRMS and T1D patients show significantly greater preponderance of rs2281808 CT/TT carriers. 32853219 Details
Variants Homo sapiens MS C3 Convergent effects of a functional C3 variant on brain atrophy, demyelination, and cognitive impairment in multiple sclerosis C3-rs2230199 affects white and GM damage as well as cognitive impairment in MS patients. 29485352 Details
Variants Homo sapiens MS MIR155 Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients These results showed that individuals carrying the genotypes of rs3745453 TC had a 2.3-fold increased risk of MS (OR=2.3, p=0.048). There was no significant difference between genotypes and allele frequency of mir155 and mir196a2 in patients and healthy controls. 30518189 Details
Variants Homo sapiens MS MIR196A2 Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients These results showed that individuals carrying the genotypes of rs3745453 TC had a 2.3-fold increased risk of MS (OR=2.3, p=0.048). There was no significant difference between genotypes and allele frequency of mir155 and mir196a2 in patients and healthy controls. 30518189 Details
Variants Homo sapiens MS VDR The vitamin D receptor gene FokI polymorphism and Multiple Sclerosis in a Northern Portuguese population A statistically significant higher frequency of the ff genotype was observed in MS patients (15.6% vs. 10.1%, p=0.012, OR (95% CI)=1.687(1.120-2.541)). 28601283 Details
Variants Homo sapiens MS IL7R Interleukin 7 Receptor Alpha Gene Variants Are Correlated with Gene Expression in Patients with Relapsing-remitting Multiple Sclerosis Higher significant frequencies of the T allele and TT genotype for rs6897932 (C/T) were observed in patients comparing to controls (p=0.006). Higher frequencies of the T allele and the TT and TG genotypes and lower frequencies of the G allele and GG genotypes for rs201084372 (G/A) were found in patients comparing to controls (p<0.0001) 28865414 Details
Variants Homo sapiens MS IL7R Interleukin 7 Receptor Alpha Gene Variants Are Correlated with Gene Expression in Patients with Relapsing-remitting Multiple Sclerosis Higher significant frequencies of the T allele and TT genotype for rs6897932 (C/T) were observed in patients comparing to controls (p=0.006). Higher frequencies of the T allele and the TT and TG genotypes and lower frequencies of the G allele and GG genotypes for rs201084372 (G/A) were found in patients comparing to controls (p<0.0001) 28865414 Details
Variants Homo sapiens MS IL12B An interleukin 12 B single nucleotide polymorphism increases IL-12p40 production and is associated with increased disease susceptibility in patients with relapsing-remitting multiple sclerosis The rs6887695 single-nucleotide polymorphism (SNP) in IL12B gene showed an association with susceptibility to MS 28276258 Details
Variants Homo sapiens MS CSGALNACT1 Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis No significant difference was observed between controls and MS. No significant difference also was observed in the ChGn-1 SNP frequencies among MS subtypes. 26806424 Details
Variants Homo sapiens MS ACE Renin-angiotensin system gene polymorphisms as risk factors for multiple sclerosis Both ACE homozygotes, II and DD, were significantly overrepresented in MS patients, compared to controls (χ(2) test p=0.03). 27000216 Details
Variants Homo sapiens MS ACE Renin-angiotensin system gene polymorphisms as risk factors for multiple sclerosis Both ACE homozygotes, II and DD, were significantly overrepresented in MS patients, compared to controls (χ(2) test p=0.03). 27000216 Details
Variants Homo sapiens MS ACE Renin-angiotensin system gene polymorphisms as risk factors for multiple sclerosis Neither genotype nor allele frequencies of AT1R 1166A/C polymorphism were significantly different between patients and controls. 27000216 Details
Variants Homo sapiens MS IL7R Genetic variants in interleukin 7 receptor α chain (IL-7Ra) are associated with multiple sclerosis risk and disability progression in Central European Slovak population Moreover, we revealed for the first time that rs6897932 in IL7Ra gene is associated with the progression of MS, evaluated by MSSS scores. 25903732 Details
Variants Homo sapiens MS CIITA The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females Furthermore, we observed that the +1614G/C mutation in combination with the HLA-DRB1*15:01 allele increased susceptibility to MS in females (OR = 4.55; p = 0.01). 25992516 Details
Variants Homo sapiens MS HLA-DRB1 The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females Furthermore, we observed that the +1614G/C mutation in combination with the HLA-DRB1*15:01 allele increased susceptibility to MS in females (OR = 4.55; p = 0.01). 25992516 Details
Variants Homo sapiens MS WT1 Modulating effects of WT1 on interferon-β-vitamin D association in MS We have demonstrated that two-independent SNPs (rs10767935 and rs5030244) in WT1 modified the IFN-β-25(OH)D association in patients with MS. 25312909 Details
Variants Homo sapiens MS WT1 Modulating effects of WT1 on interferon-β-vitamin D association in MS We have demonstrated that two-independent SNPs (rs10767935 and rs5030244) in WT1 modified the IFN-β-25(OH)D association in patients with MS. 25312909 Details
Variants Homo sapiens MS NQO1 NQO1 gene rs1800566 variant is not associated with risk for multiple sclerosis NQO1 rs1800566 allelic and genotypic frequencies did not differ significantly between MS patients and controls, and were unrelated with age of onset of MS, gender, and clinical type of MS. 24755231 Details
Variants Homo sapiens MS CD226 Lack of association between CD226 genetic variants and inflammatory demyelinating diseases in Korean population However, the significance of rs1788229 disappeared after a multiple testing correction of the data (p>0.05). 23922043 Details
Variants Homo sapiens MS CD226 Lack of association between CD226 genetic variants and inflammatory demyelinating diseases in Korean population Interestingly, rs763361, which showed significant associations with multiple sclerosis in several previous studies, did not show any association at all. 23922043 Details
Variants Homo sapiens MS HLA-DQB1 The influence of the HLA-DRB1 and HLA-DQB1 allele heterogeneity on disease risk and severity in Iranian patients with multiple sclerosis We also found that the DQB1*0303 allele was significantly associated with disease severity (mean Multiple Sclerosis Severity Score difference = 1.979, P = 0.002). 22404765 Details
Variants Homo sapiens MS HLA-DRB1 Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). 22786591 Details
Variants Homo sapiens MS HLA-DRB1 Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). 22786591 Details
Variants Homo sapiens MS HLA-DRB1 Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). 22786591 Details
Variants Homo sapiens MS HLA-DRB1 Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). 22786591 Details
Variants Homo sapiens MS HLA-DRB1 Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). 22786591 Details
Variants Homo sapiens MS STAT3 Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene The combined evidence for association to STAT3 (rs744166) was significant. 20159113 Details
Variants Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We found that among the five polymorphisms studied, two (CT60A/G and Jo31G/T) were associated with susceptibility to MS. 19740340 Details
Variants Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We found that among the five polymorphisms studied, two (CT60A/G and Jo31G/T) were associated with susceptibility to MS. 19740340 Details
Variants Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We found that among the five polymorphisms studied, two (CT60A/G and Jo31G/T) were associated with susceptibility to MS. 19740340 Details
Variants Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We found that among the five polymorphisms studied, two (CT60A/G and Jo31G/T) were associated with susceptibility to MS. 19740340 Details
Variants Homo sapiens MS BTG1 Genetic association between polymorphisms in the BTG1 gene and multiple sclerosis For SNP rs731652, significant associations with relapse-onset MS were found at the allele and genotype levels when compared with controls. 19515430 Details
Variants Homo sapiens MS TNFRSF1A Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases The penetrance of the R92Q mutation in affected family members was higher than reported. We recommend careful observation of MS patients with coexisting TRAPS with regard to unexpected side effects of immunomodulatory therapies. 19029521 Details
Variants Homo sapiens MS DLG5 The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus In terms of DLG5, the risk allele is found at a frequency of 0.10 in our MS sample and 0.16 in the SLE sample and was not associated with either disease. 16642031 Details
Variants Homo sapiens MS HLA-DRB1 Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15 However, despite adequate power to detect an independent association, no difference in transmission of BTNL2 alleles or genotypes was observed in DRB1*15-negative individuals with MS. 16321988 Details
Variants Homo sapiens MS UCP2 Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis Thus, UCP2 promoter polymorphism may contribute to MS susceptibility by regulating the level of UCP2 protein in the central nervous and/or the immune systems. 16021520 Details
Variants Homo sapiens MS PTPRC PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients We concluded that, despite the presence of CD45 G77 polymorphism in a few patients who did not carry the HLADR- DQ MS-predisposing molecules, CD45 did not contribute to development of the disease in Sardinian MS. 15372250 Details
Variants Homo sapiens MS IFNGR2 Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis The IFNGR1 and IFNGR2 gene polymorphisms studied do not exert an important influence on MS susceptibility, but allele IFNGR2*Arg64 may be associated with a progressive disease onset. 15182327 Details
Variants Homo sapiens MS APOE Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis The presence of significant NBV decreases only in the group of RRMS patients with the ApoE epsilon4 genotype provides new evidence that links ApoE epsilon4-related impaired mechanisms of cell repair and severe tissue destruction in MS. 10864599 Details
Variants Homo sapiens MS FCGR2A Immunoglobulin G Fc-receptor (FcgammaR) IIA and IIIB polymorphisms related to disability in MS The allele frequencies of the FcgammaRIIA and FcgammaRIIIB did not differ significantly between the MS patients and the controls. 10371522 Details
Variants Homo sapiens MS FCGR3B Immunoglobulin G Fc-receptor (FcgammaR) IIA and IIIB polymorphisms related to disability in MS The allele frequencies of the FcgammaRIIA and FcgammaRIIIB did not differ significantly between the MS patients and the controls. 10371522 Details
Variants Homo sapiens MS CTLA4 The CTLA-4 gene is associated with multiple sclerosis We observed a significant association (p < 0.05) for homozygosity for the G49 allele in a case-control analysis of 378 MS patients and 237 controls, and a transmission disequilibrium (p < 0.02) for the G49 allele in 31 MS families. This was further corroborated by evidence for linkage by the affected pedigree member (APM) analysis (p < 0.0002) and a transmission distortion (p < 0.05) of the exon 4(642) polymorphism. 10408973 Details
Variants Homo sapiens MS TAP2 No association of multiple sclerosis to alleles at the TAP2 locus This study shows that MS is not associated to alleles of the TAP2 locus, which is located close to DQ on its centromeric side. 8071104 Details
Variants Homo sapiens MS IL7R Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study In this study, MS patients who had vitamin D deficiency at disease onset exhibited strong association with three SNPs of IL7R; rs987107 (P-value=0.047), rs3194051 (P-value=0.03,) and rs1494571 (P-value=0.036). 32111053 Details
Variants Homo sapiens MS IL7R Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study In this study, MS patients who had vitamin D deficiency at disease onset exhibited strong association with three SNPs of IL7R; rs987107 (P-value=0.047), rs3194051 (P-value=0.03,) and rs1494571 (P-value=0.036). 32111053 Details
Variants Homo sapiens MS IL7R Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study In this study, MS patients who had vitamin D deficiency at disease onset exhibited strong association with three SNPs of IL7R; rs987107 (P-value=0.047), rs3194051 (P-value=0.03,) and rs1494571 (P-value=0.036). 32111053 Details
Variants Homo sapiens MS CD40 Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study in addition to two SNPs of CD40, namely rs1883832 and rs6074022 (P-value = 0.049 for both). 32111053 Details
Variants Homo sapiens MS CD40 Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study in addition to two SNPs of CD40, namely rs1883832 and rs6074022 (P-value = 0.049 for both). 32111053 Details
Variants Homo sapiens MS CNR2 Cannabinoid CB2 Receptor Functional Variation (Q63R) Is Associated with Multiple Sclerosis in Iranian Subjects The co-dominant, dominant, recessive, over-dominant, and additive inheritance models were analyzed using SNPStats software. A significant genetic association was observed between Q63R polymorphism and MS. The dominant model was accepted as the best inheritance model to fit the data (OR 2.70, 95% CI 1.47-4.97, p = 0.001). 31407233 Details
Variants Homo sapiens MS GTF2I The GTF2I rs117026326 polymorphism is associated with neuromyelitis optica spectrum disorder but not with multiple sclerosis in a Northern Han Chinese population The rs117026326 variant does not affect the risk for MS. 31520790 Details
Variants Homo sapiens MS IL2RA A genetic link between CXCR5 and IL2RA gene polymorphisms and susceptibility to multiple sclerosis The gene polymorphisms at the loci of IL2RA rs2104286 and rs12722489 are closely associated with susceptibility to MS in the Han and Hui nationalities. 30352019 Details
Variants Homo sapiens MS IL2RA A genetic link between CXCR5 and IL2RA gene polymorphisms and susceptibility to multiple sclerosis The gene polymorphisms at the loci of IL2RA rs2104286 and rs12722489 are closely associated with susceptibility to MS in the Han and Hui nationalities. 30352019 Details
Variants Homo sapiens MS CXCR5 A genetic link between CXCR5 and IL2RA gene polymorphisms and susceptibility to multiple sclerosis In this study, our findings showed that the occurrence and development of MS had no significant relationship with CXCR5 rs3922. 30352019 Details
Variants Homo sapiens MS FTO The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors After adjustment for potential confounders, the risk-associated FTO rs9939609 A-allele was associated with raised homocysteine levels (p = 0.003) in patients diagnosed with MS, but not in controls. 24532085 Details
Variants Homo sapiens MS IL7R The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients In addition, whereas no association was found between the alternative splicing SNP, rs6897932, and MS, a significant link was found between the promoter SNP, rs11567685, and MS. 24166352 Details
Variants Homo sapiens MS IL7R The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients In addition, whereas no association was found between the alternative splicing SNP, rs6897932, and MS, a significant link was found between the promoter SNP, rs11567685, and MS. 24166352 Details
Variants Homo sapiens MS IL18 [Clinical and electrophysiological and molecular genetic characteristics of the course of relapsing-remitting multiple sclerosis] Genotype C/C polymorphism rs187238 locus IL-18 gene associated with frequent exacerbations of relapsing-remitting multiple sclerosis, high speed of progression of the disease and is characterized by marked changes in latency of peak V ABR and VEP P100. 24300807 Details
Variants Homo sapiens MS KIR2DL1 Killer cell immunoglobulin-like receptor genes in Spanish multiple sclerosis patients Significantly higher frequencies were found for KIR2DL5 and KIR3DS1 genes in MS patients and the carriage of the KIR2DL1 gene was associated with a higher progression index. 21665278 Details
Variants Homo sapiens MS HLA-B Killer cell immunoglobulin-like receptor genes in Spanish multiple sclerosis patients Significantly higher frequencies were found for KIR2DL5 and KIR3DS1 genes in MS patients and the carriage of the KIR2DL1 gene was associated with a higher progression index. 21665278 Details
Variants Homo sapiens MS IL2RA Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk Replication and meta-analysis with results from an independent cohort of 771 MS patients and 759 controls from Andalucía (Spain) confirmed the association of polymorphisms in the IL2RA gene (P(Mantel-Haenszel,) odds ratio (OR)(M-H) (95% confidence interval, CI) for rs2104286: 0.0001, 0.75 (0.65-0.87); for rs11594656/rs35285258: 0.004, 1.19 (1.06-1.34); for rs41295061: 0.03, 0.77 (0.60-0.98)) 20179739 Details
Variants Homo sapiens MS IL2RA Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk Replication and meta-analysis with results from an independent cohort of 771 MS patients and 759 controls from Andalucía (Spain) confirmed the association of polymorphisms in the IL2RA gene (P(Mantel-Haenszel,) odds ratio (OR)(M-H) (95% confidence interval, CI) for rs2104286: 0.0001, 0.75 (0.65-0.87); for rs11594656/rs35285258: 0.004, 1.19 (1.06-1.34); for rs41295061: 0.03, 0.77 (0.60-0.98)) 20179739 Details
Variants Homo sapiens MS LILRA3 Multiple sclerosis associates with LILRA3 deletion in Spanish patients We analyse here two series of Spanish patients and healthy controls and show that relapsing MS (R-MS) is associated with a gene deletion affecting the hypothetically soluble leukocyte immunoglobulin (Ig)-like receptor A3 (LILRA3, 19q13.4), in agreement with an earlier finding in German patients. 19421224 Details
Variants Homo sapiens MS HLA-DRB1 The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR We found significantly higher frequency of rs3135388 A allele carriers in MS patients compared to controls. 19433080 Details
Variants Homo sapiens MS HLA-DRB1 [Association of HLA-DRB1 and -DPB1 allele polymorphism with multiple sclerosis in Chinese Han population from Southern areas] Southern Han MS patients may be linked to the HLA-DRB1(*)0406, DRB1(*)1302, DRB1(*)120201 and DPB1(*)2101, but not to the HLA-DRB1(*)1501 or DPB1(*)0501 alleles as reported in the above populations. 18167262 Details
Variants Homo sapiens MS HLA-DRB1 [Association of HLA-DRB1 and -DPB1 allele polymorphism with multiple sclerosis in Chinese Han population from Southern areas] Southern Han MS patients may be linked to the HLA-DRB1(*)0406, DRB1(*)1302, DRB1(*)120201 and DPB1(*)2101, but not to the HLA-DRB1(*)1501 or DPB1(*)0501 alleles as reported in the above populations. 18167262 Details
Variants Homo sapiens MS HLA-DRB1 [Association of HLA-DRB1 and -DPB1 allele polymorphism with multiple sclerosis in Chinese Han population from Southern areas] Southern Han MS patients may be linked to the HLA-DRB1(*)0406, DRB1(*)1302, DRB1(*)120201 and DPB1(*)2101, but not to the HLA-DRB1(*)1501 or DPB1(*)0501 alleles as reported in the above populations. 18167262 Details
Variants Homo sapiens MS HLA-DRB1 [Association of HLA-DRB1 and -DPB1 allele polymorphism with multiple sclerosis in Chinese Han population from Southern areas] Southern Han MS patients may be linked to the HLA-DRB1(*)0406, DRB1(*)1302, DRB1(*)120201 and DPB1(*)2101, but not to the HLA-DRB1(*)1501 or DPB1(*)0501 alleles as reported in the above populations. 18167262 Details
Variants Homo sapiens MS UCP2 UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups. 17463068 Details
Variants Homo sapiens MS CD24 CD24 Ala/Val polymorphism and multiple sclerosis In conclusion, we were unable to confirm previous findings by Zhou et al. (2003) of a positive association between the CD24v/v genotype and susceptibility to or progression of MS in our study population of over 300 Belgian and over 800 UK cases and controls. 16631259 Details
Variants Homo sapiens MS SLC11A1 Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients We found no evidence of association between SLC11A1 polymorphisms and MS susceptibility in the Spanish population. 15584484 Details
Variants Homo sapiens MS SLC11A1 Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients We found no evidence of association between SLC11A1 polymorphisms and MS susceptibility in the Spanish population. 15584484 Details
Variants Homo sapiens MS SLC11A1 Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients We found no evidence of association between SLC11A1 polymorphisms and MS susceptibility in the Spanish population. 15584484 Details
Variants Homo sapiens MS SLC11A1 Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients We found no evidence of association between SLC11A1 polymorphisms and MS susceptibility in the Spanish population. 15584484 Details
Variants Homo sapiens MS APOE Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis Cognitive decline was predominant in men and was associated with disease duration, Kurtzke Expanded Disability Status Scale (EDSS) score, a low level of education, and, interestingly, the epsilon4 allele of the APOE gene. 15503099 Details
Variants Homo sapiens MS HLA-DRB1 Evidence of linkage with HLA-DR in DRB1*15-negative families with multiple sclerosis Our findings suggest that the notion that HLA-DRB1*15 is the sole major-histocompatibility-complex determinant of susceptibility in northern-European populations with MS may be incorrect. 11519010 Details
Variants Homo sapiens MS ICAM1 ICAM-1 gene is not associated with multiple sclerosis in sardinian patients ICAM-1 gene is not associated with multiple sclerosis in sardinian patients 11081805 Details
Variants Homo sapiens MS MBP Genetic susceptibility to multiple sclerosis may be linked to polymorphism of the myelin basic protein gene The differences between incidence of the three band pattern in the MS and the control group were significant at 1% level. Validation analysis furthermore support, the view that the 1445 bp PCR fragment is associated with MS. 7561955 Details
Variants Homo sapiens MS Ace Polymorphisms in the angiotensin I converting enzyme (ACE) gene are associated with multiple sclerosis risk and response to Interferon-β treatment Analysis of genotype and allele frequencies of the mentioned variants in total MS patients compared with controls showed significant overrepresentation of the I allele of the rs1799752 in MS patients compared with healthy subjects (Adjusted P value=0.03, OR (95%CI)=1.28 (1.05–1.57). 30218954 Details
Variants Homo sapiens MS IL7R Variation in SNPs of the IL7Ra gene is associated with multiple sclerosis in the Iranian population Meanwhile, a significant difference was detected between control and primary progressive MS patients considering promoter SNPrs11567685 marker frequency. Also, a significant difference was detected considering exonic SNPrs6897932 for secondary progressive MS patients. 21190413 Details
Variants Homo sapiens MS IL7R Variation in SNPs of the IL7Ra gene is associated with multiple sclerosis in the Iranian population Meanwhile, a significant difference was detected between control and primary progressive MS patients considering promoter SNPrs11567685 marker frequency. Also, a significant difference was detected considering exonic SNPrs6897932 for secondary progressive MS patients. 21190413 Details
Variants Homo sapiens MS CD6 Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS CLEC16A Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS CLEC16A Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS EVI5 Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS EVI5 Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS GPC5 Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS TYK2 Multiple sclerosis susceptibility alleles in African Americans CD6, CLEC16a, EVI5, GPC5, and TYK2 contained SNPs that are associated with MS risk in the African American data set. 19865102 Details
Variants Homo sapiens MS EBF1 Early B-cell Factor gene association with multiple sclerosis in the Spanish population Our data support EBF1 gene association with MS pathogenesis in the Spanish white population. Two genetic markers within the EBF1 gene have been found associated with this neurological disease, indicative either of their causative role or that of some other polymorphism in linkage disequilibrium with them. 16255771 Details
Variants Homo sapiens MS HLA-DPB1 HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies The marked differences in the clinical and MRI findings as well as in the immunogenetic backgrounds between the opticospinal multiple sclerosis and Western-type multiple sclerosis together suggest that HLA-DPB1*0501-associated opticospinal multiple sclerosis is a distinct subtype of multiple sclerosis. 10468508 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens Inflammatory demyelinating disease (IDD) CCL2 No association between CCL2 gene polymorphisms and risk of inflammatory demyelinating diseases in a Korean population N/A 24786287 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population Polymerase chain reaction–restriction fragment length poly‐ morphism method was used to genotype both TNFRSF1A polymorphisms in 541 MS patients and 724 healthy controls. Logistic regression analysis revealed a significantly increased risk of developing MS for the carriers of rs1800693 C allele (TC + CC vs.TT: pcorr = 0.005; OR = 1.61; 95% CI = 1.23–2.12), irrespective of sex and carriage of the major MS risk allele HLA‐DRB1*15:01. On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71–2.21) 30009568 Details
Variants Homo sapiens MS TNFRSF1A TNFRSF1A polymorphisms and their role in multiple sclerosis susceptibility and severity in the Slovak population Polymerase chain reaction–restriction fragment length poly‐ morphism method was used to genotype both TNFRSF1A polymorphisms in 541 MS patients and 724 healthy controls. Logistic regression analysis revealed a significantly increased risk of developing MS for the carriers of rs1800693 C allele (TC + CC vs.TT: pcorr = 0.005; OR = 1.61; 95% CI = 1.23–2.12), irrespective of sex and carriage of the major MS risk allele HLA‐DRB1*15:01. On the other hand, no association could be found between rs4149584 and MS risk (GA + AA vs. GG: pcorr = 1.00; OR = 1.25; 95% CI = 0.71–2.21) 30009568 Details
Variants Homo sapiens MS GC Protocol for a Cross-Sectional Study: Effects of a Multiple Sclerosis Relapse Therapy With Methylprednisolone on Offspring Neurocognitive Development and Behavior (MS-Children) In this study, antenatal or postnatal stressors may act as confounders. Maternal psychosocial stress during pregnancy has been shown to elicit increased maternal and fetal cortisol levels (54, 55). It is further associated with an increase in the offspring stress response, disturbed motor and structural brain development and an increased risk of cognitive, behavioral, and emotional problems in later life, such as autism spectrum disorders, ADHD, depression and schizophrenia (for reviews see (9, 55)). MS relapses are not only treated with GCs but also are a major psychological stressor. However, as relapses during pregnancy rarely go untreated, there is no realistic way of mitigating this confounder using an untreated MS control group. Due to the retrospective nature of this study, there is no reliable method to assess perceived psychological stress level beyond major stressful life events, at a minimum of 8 years in the past. The mother’s stress level during pregnancy is thus estimated using a questionnaire based on the Stress and Adversity Inventory (STRAIN) , which was adapted to this study’s context. Additionally, the children fill out a questionnaire regarding subjective and objective stress in the past 12 months 35557615 Details
Variants Homo sapiens MS TGFB3 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS FGF2 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS FGFR2 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS FGFR3 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS PDGFA A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS IGF1R A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS TRK-C A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS NRG1 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS EGFR A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS ERBB2 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS NR5A1 A systematic study of oligodendrocyte growth factors as candidates for genetic susceptibility to MS The lower limits of the relative risk (Xs) possibly excluded for any candidate gene ranged from 1.3 to 2.8. Positive MLS values (up to 0.93) were observed for transforming growth factor beta 3 (TGFP3) in HLA DR15-associated families, suggesting a possible role for this growth factor in interaction with HLA. Conclusions: Oligodendrocyte growth factors do not play a significant role in MS genetic susceptibility, at least in the tested sample 9748021 Details
Variants Homo sapiens MS HLA-DRB1 Multiple Sclerosis Associated Amino Acids of Polymorphic Regions Relevant for the HLA Antigen Binding Are Confined to HLA-DR2 We found a significant association with disease for the appearance of proline at position 11, arginine at position 13, and alanine at position 71 of HLA-DRb1. Surprisingly, we identified only residues preferentially expressed in the MS group that were related to HLA-DR2 11082515 Details
Variants Homo sapiens MS CD4 Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations The result, including a total of 2640 MS patients and 2194 controls shows no significant association with CD4 and LAG3 and MS. We conclude that these genes are of minor importance in regard of genetic predisposition to the MS 17020785 Details
Variants Homo sapiens MS CD4 Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations The result, including a total of 2640 MS patients and 2194 controls shows no significant association with CD4 and LAG3 and MS. We conclude that these genes are of minor importance in regard of genetic predisposition to the MS 17020785 Details
Variants Homo sapiens MS CD4 Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations The result, including a total of 2640 MS patients and 2194 controls shows no significant association with CD4 and LAG3 and MS. We conclude that these genes are of minor importance in regard of genetic predisposition to the MS 17020785 Details
Variants Homo sapiens MS CCL14 CCL genes in multiple sclerosis and systemic lupus erythematosus After correction for multiple testing, only PG28 (rs854680) remains significant in the SLE group 18602166 Details
Variants Homo sapiens MS CCL14 CCL genes in multiple sclerosis and systemic lupus erythematosus PG28 (rs854680) is located 1641bp from the 3′ UTR of the CCL14 gene. PG29 (rs16971802) is a non-synonymous SNP (C → T) in exon II of the CCL14 gene, which changes glutamine → lysine at protein level. Further extension of this haplotype into the CCL4 gene (PG28–PG29–PG30–PG31–PG32) also reveals a significant association 18602166 Details
Variants Homo sapiens MS IL7R The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis This outcome indicates that other types of genome variants should be required for the development and progression of MS, which may vary among populations and is consistent with a complex disease model in which multiple genes and environmental factors contribute to the phenotype 18721276 Details
Variants Homo sapiens MS GPC1 Association to the Glypican-5 gene in multiple sclerosis Thus, this study supports that MS susceptibility at 13q31–32 may localize to the Glypican-5 gene, which should lead to further fine-mapping, replication and functional studies of this gene 20692050 Details
Variants Homo sapiens MS GPC1 Association to the Glypican-5 gene in multiple sclerosis Thus, this study supports that MS susceptibility at 13q31–32 may localize to the Glypican-5 gene, which should lead to further fine-mapping, replication and functional studies of this gene 20692050 Details
Variants Homo sapiens MS GPC1 Association to the Glypican-5 gene in multiple sclerosis Thus, this study supports that MS susceptibility at 13q31–32 may localize to the Glypican-5 gene, which should lead to further fine-mapping, replication and functional studies of this gene 20692050 Details
Variants Homo sapiens MS GPC1 Association to the Glypican-5 gene in multiple sclerosis Thus, this study supports that MS susceptibility at 13q31–32 may localize to the Glypican-5 gene, which should lead to further fine-mapping, replication and functional studies of this gene 20692050 Details
Variants Homo sapiens MS IRF5 Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection The combined analysis of available datasets yielded an effect size on MS with odds ratio (OR)MantelHaenszel 1.14 (Po0.002) for the IRF5 polymorphisms rs4728142 and rs3807306 20861862 Details
Variants Homo sapiens MS IRF5 Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection The combined analysis of available datasets yielded an effect size on MS with odds ratio (OR)MantelHaenszel 1.14 (Po0.002) for the IRF5 polymorphisms rs4728142 and rs3807306 20861862 Details
Variants Homo sapiens MS、AD PCK1 A Putative Alzheimer’s Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis Our study provides suggestive evidence for greater brain atrophy in MS patients bearing the PCK1 allele associated with AD-susceptibility, yielding new insights into potentially shared neurodegenerative process between MS and late onset AD 21152065 Details
Variants Homo sapiens MS、AD PICALM A Putative Alzheimer’s Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis Our study provides suggestive evidence for greater brain atrophy in MS patients bearing the PCK1 allele associated with AD-susceptibility, yielding new insights into potentially shared neurodegenerative process between MS and late onset AD 21152065 Details
Variants Homo sapiens MS、AD CR1 A Putative Alzheimer’s Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis Our study provides suggestive evidence for greater brain atrophy in MS patients bearing the PCK1 allele associated with AD-susceptibility, yielding new insights into potentially shared neurodegenerative process between MS and late onset AD 21152065 Details
Variants Homo sapiens MS、AD CLU A Putative Alzheimer’s Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis Our study provides suggestive evidence for greater brain atrophy in MS patients bearing the PCK1 allele associated with AD-susceptibility, yielding new insights into potentially shared neurodegenerative process between MS and late onset AD 21152065 Details
Variants Homo sapiens MS、AD ZNF224 A Putative Alzheimer’s Disease Risk Allele in PCK1 Influences Brain Atrophy in Multiple Sclerosis Our study provides suggestive evidence for greater brain atrophy in MS patients bearing the PCK1 allele associated with AD-susceptibility, yielding new insights into potentially shared neurodegenerative process between MS and late onset AD 21152065 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS MERTK Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility In conclusion, this candidate gene study has identified an association of MS with 12 SNPs in the MERTK gene that replicated in two independent cohorts of MS cases and controls, an association that is particularly compelling given the previous studies implicating TAM receptor signalling in demyelination and autoimmunity. Further fine mapping studies will be required to determine the causal variant or variants 21347448 Details
Variants Homo sapiens MS IRF5 Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis We found that patients with the IRF5 rs2004640-TT and rs47281420-AA genotype exerted a poor pharmacological response to IFNb compared with patients carrying the respective G-alleles (P 0.0006 and P 0.0023, respectively). Moreover, patients with the rs2004640-TT genotype developed more magnetic resonance imaging (MRI)-based T2 lesions during IFNb treatment (P 0.003). Accordingly, an association between MRI-based non-responder status and rs2004640-TT genotype was observed (P 0.010). For the rs4728142-AA genotype a trend of an association with more T2 lesions during IFNb treatment and MRI-based non-responder status was observed (P 0.103 and P 0.154, respectively). 21471993 Details
Variants Homo sapiens MS IRF5 Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis We found that patients with the IRF5 rs2004640-TT and rs47281420-AA genotype exerted a poor pharmacological response to IFNb compared with patients carrying the respective G-alleles (P 0.0006 and P 0.0023, respectively). Moreover, patients with the rs2004640-TT genotype developed more magnetic resonance imaging (MRI)-based T2 lesions during IFNb treatment (P 0.003). Accordingly, an association between MRI-based non-responder status and rs2004640-TT genotype was observed (P 0.010). For the rs4728142-AA genotype a trend of an association with more T2 lesions during IFNb treatment and MRI-based non-responder status was observed (P 0.103 and P 0.154, respectively). 21471993 Details
Variants Homo sapiens MS IRF5 Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis We found that patients with the IRF5 rs2004640-TT and rs47281420-AA genotype exerted a poor pharmacological response to IFNb compared with patients carrying the respective G-alleles (P 0.0006 and P 0.0023, respectively). Moreover, patients with the rs2004640-TT genotype developed more magnetic resonance imaging (MRI)-based T2 lesions during IFNb treatment (P 0.003). Accordingly, an association between MRI-based non-responder status and rs2004640-TT genotype was observed (P 0.010). For the rs4728142-AA genotype a trend of an association with more T2 lesions during IFNb treatment and MRI-based non-responder status was observed (P 0.103 and P 0.154, respectively). 21471993 Details
Variants Homo sapiens MS USP18 Roles of the ubiquitin peptidase USP18 in multiple sclerosis and the response to interferon-b treatment Two USP18 haplotypes were significantly associated with MS, TG and CG. Additional experiments revealed that CG carriers were characterized by lower USP18 gene expression levels in peripheral blood mononuclear cells and higher clinical disease activity. Finally, AA homozygosis for the intronic polymorphism rs2542109 was associated with the responder phenotype; however, USP18 expression levels induced by IFNb did not differ amongst MS patients carrying different rs2542109 genotypes 23700969 Details
Variants Homo sapiens MS USP18 Roles of the ubiquitin peptidase USP18 in multiple sclerosis and the response to interferon-b treatment Two USP18 haplotypes were significantly associated with MS, TG and CG. Additional experiments revealed that CG carriers were characterized by lower USP18 gene expression levels in peripheral blood mononuclear cells and higher clinical disease activity. Finally, AA homozygosis for the intronic polymorphism rs2542109 was associated with the responder phenotype; however, USP18 expression levels induced by IFNb did not differ amongst MS patients carrying different rs2542109 genotypes 23700969 Details
Variants Homo sapiens MS MMP9 MS susceptibility is not affected by single nucleotide polymorphisms in the MMP9 gene In conclusion, our results do not suggest that MS susceptibility is affected by known genetic variants within MMP9, although MMP9 itself may play an important role in MS pathophysiology 25670000 Details
Variants Homo sapiens MS MMP9 MS susceptibility is not affected by single nucleotide polymorphisms in the MMP9 gene In conclusion, our results do not suggest that MS susceptibility is affected by known genetic variants within MMP9, although MMP9 itself may play an important role in MS pathophysiology 25670000 Details
Variants Homo sapiens MS MTHFR Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease 31038186 Details
Variants Homo sapiens MS MTHFR Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease 31038186 Details
Variants Homo sapiens MS MTHFR Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease 31038186 Details
Variants Homo sapiens MS MTHFR Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease 31038186 Details
Variants Homo sapiens MS MBP A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis Our study, and those from others, consolidates the contribution of rs12959006, within the MBP gene, as a marker to predict MS activity. Furthermore, according to our results, there seems to be an influence of both the genetic polymorphism in MBP and HHV-6 infection in predicting a higher relapse rate that is exclusive to male MS patients 32431704 Details
Variants Homo sapiens MS PTPRC A CD45 polymorphism associated with abnormal splicing is absent in African populations These studies suggest that the regulation of CD45 splicing may be critical for the proper function of the immune system. Because of these data we examined the frequency of the C77G allele in African and Asian populations from countries with high or low prevalence of HIV infection. Here we report that the variant CD45 C77G allele is absent in African populations 11862398 Details
Variants Homo sapiens MS APOE Apolipoprotein E polymorphism in Southern Iran: E4 allele in the lowest reported amounts The results of present study are in agreement with the historical evidences which show admixture of Iranian population with other populations and some studies based on genetic polymorphisms in the population of Southern Iran 17594534 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms At first the sensitivity and specificity for DQ2.2 was high and accurate but the predictive value was low. The SNPs for DQ2.2 (rs2395182, rs7775228) not only tagged DQ2.2 but also included the relatively infrequent DQ4 allele. We therefore decided to tag DQ4 as well (rs4713586) making it possible to call a person DQ2.2 when the alleles were positive for DQ2.2 and negative for DQ4 18509540 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms At first the sensitivity and specificity for DQ2.2 was high and accurate but the predictive value was low. The SNPs for DQ2.2 (rs2395182, rs7775228) not only tagged DQ2.2 but also included the relatively infrequent DQ4 allele. We therefore decided to tag DQ4 as well (rs4713586) making it possible to call a person DQ2.2 when the alleles were positive for DQ2.2 and negative for DQ4 18509540 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms Tag SNPs were selected that captured the following HLA types: DQ2.2 (2 SNPs for DQ2.2 and one SNP to exclude DQ4 from the DQ2.2 group), DQ2.5 (1 SNP), DQ7 (1 SNP), and DQ8 (1 SNP) (see Table 3). DQ2.5 and DQ8 are risk factors for CD and are carried by ,95% of CD patients [4,22]. The HLA-DQA1*0505 allele of DQ7 and HLA-DQA1*0501 allele of DQ2.5 only differ by one or a few base pairs and are thought to have the same functional properties. This also holds for the HLA-DQB1*0202 allele of DQ2.2 and the HLA-DQB1*0201 allele of DQ2.5. Most of the CD patients who do not carry DQ2.5 or DQ8, carry half of the DQ2.5 or DQ2.2 molecule (that is either HLA-DQA1*05 or DQB1*0202) suggesting that carrying part of the risk molecules has functional implications for the risk of CD 18509540 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms Tag SNPs were selected that captured the following HLA types: DQ2.2 (2 SNPs for DQ2.2 and one SNP to exclude DQ4 from the DQ2.2 group), DQ2.5 (1 SNP), DQ7 (1 SNP), and DQ8 (1 SNP) (see Table 3). DQ2.5 and DQ8 are risk factors for CD and are carried by ,95% of CD patients [4,22]. The HLA-DQA1*0505 allele of DQ7 and HLA-DQA1*0501 allele of DQ2.5 only differ by one or a few base pairs and are thought to have the same functional properties. This also holds for the HLA-DQB1*0202 allele of DQ2.2 and the HLA-DQB1*0201 allele of DQ2.5. Most of the CD patients who do not carry DQ2.5 or DQ8, carry half of the DQ2.5 or DQ2.2 molecule (that is either HLA-DQA1*05 or DQB1*0202) suggesting that carrying part of the risk molecules has functional implications for the risk of CD 18509540 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms Tag SNPs were selected that captured the following HLA types: DQ2.2 (2 SNPs for DQ2.2 and one SNP to exclude DQ4 from the DQ2.2 group), DQ2.5 (1 SNP), DQ7 (1 SNP), and DQ8 (1 SNP) (see Table 3). DQ2.5 and DQ8 are risk factors for CD and are carried by ,95% of CD patients [4,22]. The HLA-DQA1*0505 allele of DQ7 and HLA-DQA1*0501 allele of DQ2.5 only differ by one or a few base pairs and are thought to have the same functional properties. This also holds for the HLA-DQB1*0202 allele of DQ2.2 and the HLA-DQB1*0201 allele of DQ2.5. Most of the CD patients who do not carry DQ2.5 or DQ8, carry half of the DQ2.5 or DQ2.2 molecule (that is either HLA-DQA1*05 or DQB1*0202) suggesting that carrying part of the risk molecules has functional implications for the risk of CD 18509540 Details
Variants Homo sapiens MS TOR1A Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms At first the sensitivity and specificity for DQ2.2 was high and accurate but the predictive value was low. The SNPs for DQ2.2 (rs2395182, rs7775228) not only tagged DQ2.2 but also included the relatively infrequent DQ4 allele. We therefore decided to tag DQ4 as well (rs4713586) making it possible to call a person DQ2.2 when the alleles were positive for DQ2.2 and negative for DQ4 18509540 Details
Variants Homo sapiens MS CIITA Lack of association of the CIITA -168AG promoter SNP with myasthenia gravis and its role in autoimmunity No significant association of the SNP with MG was detected, neither in the patient group as a whole, nor in any clinical subgroup. The vast majority of previous replication studies have also not found an association of the SNP with autoimmune disorders 20942939 Details
Variants Homo sapiens MS IL7R No association between rs6897932 in the gene encoding interleukin-7 receptor a and low-grade inflammation or self-reported health – results from the Danish Blood Donor Study The T-allele in the single nucleotide polymorphism rs6897932 in the gene encoding the IL-7 receptor a (IL7RA) is associated with reduced risk of autoimmune diseases including multiple sclerosis and also affects the course of HIV infection. Low-grade inflammation (LGI) and self-reported, health-related quality of life (HRQL) are often associated with chronic diseases and widely used in assessing and monitoring health status. The aim of the present study was to evaluate whether the T-allele in rs6897932 is associated with reduced risk of LGI (hsCRP 3–10 mg/L), history of infectious mononucleosis (IM), and HRQL in healthy individuals. A total of 17, 293 healthy Danish individuals from the Danish Blood Donor Study were included in the analyses. We tested rs6897932 as a predictor of LGI, self-reported IM, and HRQL in univariable and multivariable models stratified by sex. No associations between rs6897932 and LGI, self-reported IM or HRQL were found in men or women. 25421942 Details
Variants Homo sapiens MS、BON、LETM、RON AQP4 Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P<0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. 25895050 Details
Variants Homo sapiens MS、BON、LETM、RON AQP4 Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P<0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. 25895050 Details
Variants Homo sapiens NMOSD STAT4 STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases 28852993 Details
Variants Homo sapiens NMOSD STAT4 STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases 28852993 Details
Variants Homo sapiens NMOSD STAT4 STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases 28852993 Details
Variants Homo sapiens NMOSD STAT4 STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases 28852993 Details
Variants Homo sapiens NMOSD STAT4 STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases 28852993 Details
Variants Homo sapiens PML 、MS 、toxoplasmosis、cytomegalovirus infection、HSV1 encephalitis、 HIV infection、with mycosis and encephalitis、brain abscess、 central pontine/extrapontine myelinolysis、 Wallerian degeneration 、glioma MGMT MGMT-Methylation in Non-Neoplastic Diseases of the Central Nervous System his study demonstrates for the first time that one can indeed detect slightly enhanced MGMT promoter methylation in individual cases of inflammatory demyelinating CNS diseases such as multiple sclerosis and progressive multifocal leucencephalopathy (PML), as well as in other demyelinating diseases such as central pontine and exptrapontine myelinolysis, and diseases with myelin damage such as Wallerian degeneration. In this context, we identified a reduction in the expression of the demethylase TET1 as a possible cause for the enhanced MGMT promoter methylation 33917711 Details
Variants Homo sapiens NMOSD USP18 Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants The single-nucleotide polymorphism (SNP) rs2252257 in the promoter and enhancer of ubiquitin-specific peptidase USP18 was linked to familial NMOSD (p=7.8E-05, logarithm of the odds (LOD)=3.1), SNPs rs361553, rs2252257 and rs5746523 were related to sporadic NMOSD (p=1.29E-10, 3.45E-07 and 2.01E09, respectively). Patients with the SNP rs361553 T/T genotype had higher recurrence rate than C/T or C/C genotype (1.22±0.85 vs 0.69±0.57 and 0.81±0.65, p=0.003 and 0.001, respectively). SNPs rs361553 and rs2252257 altered USP18 expression in brain and nerve tissues. 36376024 Details
Variants Homo sapiens NMOSD USP18 Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants The single-nucleotide polymorphism (SNP) rs2252257 in the promoter and enhancer of ubiquitin-specific peptidase USP18 was linked to familial NMOSD (p=7.8E-05, logarithm of the odds (LOD)=3.1), SNPs rs361553, rs2252257 and rs5746523 were related to sporadic NMOSD (p=1.29E-10, 3.45E-07 and 2.01E09, respectively). Patients with the SNP rs361553 T/T genotype had higher recurrence rate than C/T or C/C genotype (1.22±0.85 vs 0.69±0.57 and 0.81±0.65, p=0.003 and 0.001, respectively). SNPs rs361553 and rs2252257 altered USP18 expression in brain and nerve tissues. 36376024 Details
Variants Homo sapiens NMOSD USP18 Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants The single-nucleotide polymorphism (SNP) rs2252257 in the promoter and enhancer of ubiquitin-specific peptidase USP18 was linked to familial NMOSD (p=7.8E-05, logarithm of the odds (LOD)=3.1), SNPs rs361553, rs2252257 and rs5746523 were related to sporadic NMOSD (p=1.29E-10, 3.45E-07 and 2.01E09, respectively). Patients with the SNP rs361553 T/T genotype had higher recurrence rate than C/T or C/C genotype (1.22±0.85 vs 0.69±0.57 and 0.81±0.65, p=0.003 and 0.001, respectively). SNPs rs361553 and rs2252257 altered USP18 expression in brain and nerve tissues. 36376024 Details
Variants Homo sapiens MS、primary immune thrombocytopenia FOXP3 A unique thymus-derived regulatory T cell subset associated with systemic lupus erythematosus We have demonstrated that a dichotomic tTreg subset with both immunoregulatory and Th17 phenotypes is increased in the circulation of SLE patients. This tTreg subset might be involved in the pathogenic process of SLE by infiltrating into the effected tissue, although whether this subset is harmful or protective remains unclear. Further studies investigating the roles of this tTreg subset in the pathogenic process of SLE and the mechanisms underlying its differentiation are useful for understanding the pathogenesis of SLE and developing potential biomarkers and therapeutic targets 32317002 Details
Variants Homo sapiens MS AR X Chromosome Inactivation Patterns Correlate with Fetal-Placental Anatomy in Monozygotic Twin Pairs: Implications for Immune Relatedness and Concordance for Autoimmunity The highly similar patterns of X chromosome inactivation among monochorionic twin pairs may result from their shared placental blood supply during intrauterine life. Alternatively, these patterns may indicate that X chromosome inactivation occurs before the twinning event in this anatomic subgroup of MZ twins. The data further suggest that these factors do not make a major contribution to the high discordance rates for autoimmune disease in MZ twin pairs 8790602 Details
Variants Homo sapiens autoimmune diseases S1PR1 Individual variation of human S1P 1 coding sequence leads to heterogeneity in receptor function and drug interactions In summary, fi ndings in this study suggest that individual variations in S1P 1 may infl uence cardiovascular/immune functions as well as drug sensitivity and, therefore, infer differential risks for cardiovascular and autoimmune diseases as well as response to S1P receptor modulatory drugs. Suffi ciently powered prospective cohort studies should be conducted to validate possible relationships between individual variations in the S1P 1 receptor and specifi c diseases/drug sensitivity 25293589 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens Neuromyelitis optica (NMO) FCRL3 The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3C, 5C, 6A, 8G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future 26402798 Details
Variants Homo sapiens optic neuritis (ON) CYP4F2 Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration The higher IL-17A levels were found to be associated with ON, while allele A at rs1558139 was associated only with ON with MS in male patients 29736281 Details
Variants Homo sapiens N/A TNFSF13B A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc 30586461 Details
Variants Homo sapiens ON CETP Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON CETP Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON SIRT1 Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON FGFR2 Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON STAT3 Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON VEGFA Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens ON IL6 Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95% CI:0.155–0.929; p = .034) model 31199170 Details
Variants Homo sapiens MS CD3G Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS CD44 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS CD44 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS CD5 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS CD5 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS CD69 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PLCG1 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PLCG1 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PTPN12 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PTPN12 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PTPN3 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PTPN6 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS SLAMF1 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS SLAMF1 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS SLAMF1 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS PTPN22 Coding region polymorphisms in T cell signal transduction genes.Prevalence and association to development of multiple sclerosis Heterozygosity (HZ) in 4000 controls 16764945 Details
Variants Homo sapiens MS TGFB2 Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson’s disease Our failure to find an association between TGFB2 and MS is in keeping with the negative findings of two previous studies, although these were limited by their sample size and choice of only one microsatellite marker in the 5’ flanking region 17431704 Details
Variants Homo sapiens MS TGFB2 Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson’s disease suggesting that rs6658835*G may be the causative variant 17431704 Details
Variants Homo sapiens MS TGFB2 Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson’s disease Our failure to find an association between TGFB2 and MS is in keeping with the negative findings of two previous studies, although these were limited by their sample size and choice of only one microsatellite marker in the 5’ flanking region 17431704 Details
Variants Homo sapiens MS IRF5 Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations Two single nucleotide polymorphism (SNPs) (rs4728142, rs3807306), and a 5 bp insertion-deletion polymorphism located in the promoter and first intron of the IRF5 gene, showed association signals with values of p,0.001 when the data from all cohorts were combined.The predisposing alleles were present on the same common haplotype in all populations. Using electrophoretic mobility shift assays we observed allele specific differences in protein binding for the SNP rs4728142 and the 5 bp indel, and by a proximity ligation assay we demonstrated increased binding of the transcription factor SP1 to the risk allele of the 5 bp indel. 18285424 Details
Variants Homo sapiens MS IRF5 Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations Two single nucleotide polymorphism (SNPs) (rs4728142, rs3807306), and a 5 bp insertion-deletion polymorphism located in the promoter and first intron of the IRF5 gene, showed association signals with values of p,0.001 when the data from all cohorts were combined.The predisposing alleles were present on the same common haplotype in all populations. Using electrophoretic mobility shift assays we observed allele specific differences in protein binding for the SNP rs4728142 and the 5 bp indel, and by a proximity ligation assay we demonstrated increased binding of the transcription factor SP1 to the risk allele of the 5 bp indel. 18285424 Details
Variants Homo sapiens MS PON1 Paraoxonase 1 Polymorphisms Are Not Related with the Risk for Multiple Sclerosis The OR (95% confidence intervals) for the variant alleles PON155L and PON1-192R were 0.96 (0.73–1.26) and 1.01 (0.76–1.35), respectively 19826962 Details
Variants Homo sapiens MS IL7R Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans We found no significant difference in genotype or allele frequencies between controls and patients with multiple sclerosis either separately in Serbian, Croatian, and Slovenian populations or in the whole sample from the Western Balkans. The odds ratio for multiple sclerosis in this study was 1.04 (0.86–1.25) for the C allele 20194581 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL18R1 Interleukin 18 Receptor 1 expression distinguishes patients with multiple sclerosis using 13 tagging single nucleotide polymorphisms (SNPs) across the IL18R1 gene, but determined no SNP or haplotype association 20354066 Details
Variants Homo sapiens MS IL7R Evaluation of the established non-MHC multiple sclerosis loci in an Indian population In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR 0.5543, 95% CI 0.37–0.78, p 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p 0.0082, OR 1.478, 95% CI 1.106–1.975) and CD226 rs763361 (p 0.03971, OR 1.353, CI 1.014–1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population 20952449 Details
Variants Homo sapiens MS CLEC16A Evaluation of the established non-MHC multiple sclerosis loci in an Indian population In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR 0.5543, 95% CI 0.37–0.78, p 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p 0.0082, OR 1.478, 95% CI 1.106–1.975) and CD226 rs763361 (p 0.03971, OR 1.353, CI 1.014–1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population 20952449 Details
Variants Homo sapiens MS CD226 Evaluation of the established non-MHC multiple sclerosis loci in an Indian population In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR 0.5543, 95% CI 0.37–0.78, p 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p 0.0082, OR 1.478, 95% CI 1.106–1.975) and CD226 rs763361 (p 0.03971, OR 1.353, CI 1.014–1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population 20952449 Details
Variants Homo sapiens MS CIITA Herpesvirus active replication in multiple sclerosis A genetic control? a statistical significance was found for the two polymorphisms of MHC2TA when we compared MS patients with active replication and controls (p= 0.0000004 for rs4774C and p= 0.011 for rs3087456G) 21962857 Details
Variants Homo sapiens MS CIITA Herpesvirus active replication in multiple sclerosis A genetic control? a statistical significance was found for the two polymorphisms of MHC2TA when we compared MS patients with active replication and controls (p= 0.0000004 for rs4774C and p= 0.011 for rs3087456G) 21962857 Details
Variants Homo sapiens MS CD40 MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC 25600834 Details
Variants Homo sapiens MS CD40 MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC 25600834 Details
Variants Homo sapiens MS CD40 MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC 25600834 Details
Variants Homo sapiens MS CD40LG MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC 25600834 Details
Variants Homo sapiens MS CD40LG MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC 25600834 Details
Variants Homo sapiens MS SOCS1 Expression of suppressor of cytokine signaling 1 (SOCS1) gene dramatically increases in relapsing–remitting multiple sclerosis There were no significant differences in the genotype frequencies of SOCS1 rs243324 SNP between MS patients and the healthy controls. Moreover, the rs243324 SNP did not affect the expression level of SOCS1 mRNA in PBMCs of RR-MS patients 25701091 Details
Variants Homo sapiens MS VAMP2 The Association Between Vitamin D and Multiple Sclerosis Risk: 1,25(OH)2D3 Induces Super-Enhancers Bound by VDR we reanalyse public ChIP-seq and RNA-seq data to classify VSEs into three categories according to their combinations of persistent and secondary VDR binding. Secondly, we indicate the genes with VSE regions that are near MS risk variants. Furthermore, we find that MS risk variants are enriched in VSE regions, and we indicate some genes with a VSE overlapping MS risk variant for further exploration. We also find two clusters of genes from the set of genes showing correlation of expression patterns with the MS risk gene ZMIZ1 that appear to be regulated by VSEs in THP-1 cell 30941131 Details
Variants Homo sapiens MS TREM2 TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort Minor allele rs75932628-T frequency was reported between 0.0017 to 0.003 in European populations 31362167 Details
Variants Homo sapiens MS MIR146A Contribution of hsa-miR-146a and hsa-miR-223 gene variations in patients with multiple sclerosis reveals association of rs2910164 and rs1044165 with risk of multiple sclerosis susceptibility Allelic and genotypic associations between the SNPs and MS were evaluated by the data analysis conducted by SPSS V.20. The frequencies of rs2910164 and rs1044165 SNPs were significantly different between the patients with MS and healthy controls. C and T alleles in the variants rs2910164 and rs1044165, respectively, are associated with increased risk of MS. Such association was obtained in codominant, dominant, and overdominant models for both variants (OR ~3 and OR ~1.5, respectively). 33478974 Details
Variants Homo sapiens MS MIR223 Contribution of hsa-miR-146a and hsa-miR-223 gene variations in patients with multiple sclerosis reveals association of rs2910164 and rs1044165 with risk of multiple sclerosis susceptibility Allelic and genotypic associations between the SNPs and MS were evaluated by the data analysis conducted by SPSS V.20. The frequencies of rs2910164 and rs1044165 SNPs were significantly different between the patients with MS and healthy controls. C and T alleles in the variants rs2910164 and rs1044165, respectively, are associated with increased risk of MS. Such association was obtained in codominant, dominant, and overdominant models for both variants (OR ~3 and OR ~1.5, respectively). 33478974 Details
Variants Homo sapiens MS、EAE IL1B NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients Altogether, these results point to a role of IL1B and the NLRP3 inflammasome as prognostic biomarker and potential therapeutic target, respectively, in patients with primary progressive multiple sclerosis. 32282893 Details
Variants Homo sapiens MS HHEX Unraveling the Influence of HHEX Risk Polymorphism rs7923837 on Multiple Sclerosis Pathogenesis The present study evidenced statistically significant lower HHEX mRNA levels in lymphocytes of MS patients compared to those of controls, showing a similar trend in MS patients to the already described eQTL effect in blood from healthy individuals. Even though no differences were found in protein expression according to HHEX genotypes, statistically significant divergent subcellular distributions of HHEX appeared in patients and controls. The epistatic interaction detected between BCL6 and HHEX MS-risk variants in healthy individuals was absent in patients, indicative of a perturbed reciprocal regulation in the latter. Lymphocytes from MS carriers of the homozygous mutant genotype exhibited a distinctive, more energetic profile, both in resting and activated conditions, and significantly increased glycolytic rates in resting conditions when compared to controls sharing the HHEX genotype. In contrast, significantly higher mitochondrial mass was evidenced in homozygous mutant controls. 35887298 Details
Variants Homo sapiens EAE WAS cannabidiol Regulates Gene expression in encephalitogenic t cells Using Histone Methylation and noncoding RnA during experimental Autoimmune encephalomyelitis The main purpose of this study is to identify potential regulatory elements in CBD-mediated immune modulation. 31673072 Details
Variants Homo sapiens MS TAC1 Haplotype analysis of the preprotachykinin-1 (TAC1) gene in multiple sclerosis Two-marker haplotypes composed of allelic combinations of TAC1 promoter–intron 1 SNPs were highly significantly associated with MS and more so with the relapsing-remitting form of this disease. While independent reproduction of these data in other data sets is indicated, our work is suggestive for a role of the TAC1 gene in MS 15729363 Details
Variants Homo sapiens MS PRKCA PRKCA and Multiple Sclerosis: Association in Two Independent Populations The transcript levels of PRKCA showed correlation with the copy number of the Finnish and Canadian ‘‘risk’’ haplotypes in CD4-negative mononuclear cells of five Finnish multiplex families and in lymphoblast cell lines of 11 Centre d’Etude du Polymorphisme Humain (CEPH) individuals of European origin 16596167 Details
Variants Homo sapiens MS Spp1 Osteopontin gene and clinical severity of multiple sclerosis The four SNPs finally considered in our analysis include two located in coding regions of the osteopontin gene and two from non-coding regions of exon 7. Although none of these variations lead to amino-acid changes they may still be functionally important by altering mRNA stability or localization or be in linkage disequilibrium with functionally important variants located in other parts of the osteopontin gene 12928913 Details
Variants Homo sapiens MS ERG Estrogen receptor gene polymorphism in Japanese patients with multiple sclerosis ERG polymorphism should whereas in the late-stage pregnancy group, no difference in be further studied in other populations to obtain more BMD was shown in XbaI polymorphism. The Xx genotype adequate strategies for treatment of MS. 11054488 Details
Variants Homo sapiens MS HLA-DRB1 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility Pooled DNA from Scottish DR2-positive individuals digested with Mspl and probed with HLADQc~, showing the presence of a 3.25-kb fragment in MS patients (A) but not in healthy unrelated controls (B) 2567726 Details
Variants Homo sapiens MS HLA-DQA1 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility Following digestion with MsP1 a 3.25-kb fragment was present in the MS DR2-positive pool but absent in the control DR2-positive pool 2567726 Details
Variants Homo sapiens MS HLA-DQB1 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility DQB RFLP differences between DR2-negative MS and control pools. As with DQB, the majority of restriction enzymes gave rise to DQB-hybridizing restriction fragments which were identical in each of the four pools 2567726 Details
Variants Homo sapiens MS HLA-DPA1 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility No polymorphism discriminating between MS and control pools was seen using DRB, DPa, DPB, TcRa, orTcRB geneprobes 2567726 Details
Variants Homo sapiens MS HLA-DPB1 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility No polymorphism discriminating between MS and control pools was seen using DRB, DPa, DPB, TcRa, orTcRB geneprobes 2567726 Details
Variants Homo sapiens MS TRBV20OR9-2 An Allelic Cluster of DQa Restriction Fragments Is Associated with Multiple Sclerosis: Evidence That a Second Haplotype May Influence Disease Susceptibility No polymorphism discriminating between MS and control pools was seen using DRB, DPa, DPB, TcRa, orTcRB geneprobes 2567726 Details
Variants Homo sapiens MS HLA-DPB1 FREQUENCY OF HLA-DPB1 ALLELES IN MULTIPLE SCLEROSIS PATIENTS FROM NORTHERN IRELAND Using sequence-specific oligonucleotide probes, no altered distribution in the frequency of HLA-DPB1 alleles was found in multiple sclerosis patients from Northern Ireland. Although present in the controls, linkage disequilibrium between HLA-DPBl*OlOl and HLA-DR17 was not found in multiple sclerosis patients. 1420118 Details
Protein Homo sapiens MS STAT1 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity Western blot analysis for total Stat1 and Stat2 proteins was performed at 8 and 24 h poststimulation and show that both IFN-b and IFN-c increase the amounts of total Stat protein expression. 12437583 Details
Protein Homo sapiens MS STAT2 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity Western blot analysis for total Stat1 and Stat2 proteins was performed at 8 and 24 h poststimulation and show that both IFN-b and IFN-c increase the amounts of total Stat protein expression. 12437583 Details
Protein Homo sapiens MS CCL1 The CC chemokine ligand (CCL) 1, upregulated by the viral transactivator Tax, can be downregulated by minocycline: possible implications for long-term treatment of HTLV-1-associated myelopathy/tropical spastic paraparesis Plasma levels of CCL1 were significantly higher in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) than in HTLV-1-seronegative patients with multiple sclerosis (MS) and asymptomatic HTLV-1 healthy carriers (HC). 29202792 Details
Protein Homo sapiens MS IL25 Molecular analysis of interleukin-25 exons 1 and 2 and its serum levels in Iranian patients with multiple sclerosis These results demonstrate that serum levels of IL-25 are reduced in MS patients compared to controls. 25143869 Details
Protein Homo sapiens MS IL10 Cytokines gene expression in newly diagnosed multiple sclerosis patients The plasma levels of IL-10, IL-27 and TGF-β in MS patients were significantly lower than healthy controls (p<0.001, p<0.001, and p=0.013). 25780887 Details
Protein Homo sapiens MS IL27 Cytokines gene expression in newly diagnosed multiple sclerosis patients The plasma levels of IL-10, IL-27 and TGF-β in MS patients were significantly lower than healthy controls (p<0.001, p<0.001, and p=0.013). 25780887 Details
Protein Homo sapiens MS TGFB1 Cytokines gene expression in newly diagnosed multiple sclerosis patients The plasma levels of IL-10, IL-27 and TGF-β in MS patients were significantly lower than healthy controls (p<0.001, p<0.001, and p=0.013). 25780887 Details
Protein Homo sapiens MS IL10 Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients Males carrying the TNFB2/B2 genotype exhibited increased levels of TNF-α, IFN-γ, and IL-17 (p = 0.0326) and decreased levels of IL-4, IL-10, insulin, and HOMA-IR. 25173940 Details
Protein Homo sapiens MS IL4 Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients Males carrying the TNFB2/B2 genotype exhibited increased levels of TNF-α, IFN-γ, and IL-17 (p = 0.0326) and decreased levels of IL-4, IL-10, insulin, and HOMA-IR. 25173940 Details
Protein Homo sapiens MS IL17A Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients Males carrying the TNFB2/B2 genotype exhibited increased levels of TNF-α, IFN-γ, and IL-17 (p = 0.0326) and decreased levels of IL-4, IL-10, insulin, and HOMA-IR. 25173940 Details
Protein Homo sapiens MS IFNG Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients Males carrying the TNFB2/B2 genotype exhibited increased levels of TNF-α, IFN-γ, and IL-17 (p = 0.0326) and decreased levels of IL-4, IL-10, insulin, and HOMA-IR. 25173940 Details
Protein Homo sapiens MS TNF Tumor necrosis factor beta NcoI polymorphism is associated with inflammatory and metabolic markers in multiple sclerosis patients Males carrying the TNFB2/B2 genotype exhibited increased levels of TNF-α, IFN-γ, and IL-17 (p = 0.0326) and decreased levels of IL-4, IL-10, insulin, and HOMA-IR. 25173940 Details
Protein Homo sapiens MS IL4 Multiple sclerosis: B- and T-cell responses to the extracellular domain of the myelin oligodendrocyte glycoprotein Interestingly, six out of 12 T-cell lines from the three anti-MOGIgd antibody-seropositive donors (HK, CL, ASt) produced significant amounts of IL-4 after stimulation (Th-0 or Th-2subset responses). 10545394 Details
Protein Homo sapiens MS IFNB1 A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function IFN-b is increased in ELISA of serum samples of MS patients during relapse. 25261476 Details
Protein Homo sapiens MS IL33 Serum IL-33 Level and IL-33, IL1RL1 Gene Polymorphisms in Asthma and Multiple Sclerosis Patients the level of IL33 was significantly higher in patients with asthma (3767.5±1139.8 pg/ml) and MS. 30950351 Details
Protein Homo sapiens MS DNMT1 TET2 gene expression and 5-hydroxymethylcytosine level in multiple sclerosis peripheral blood cells We show that TET2 and DNMT1 expression is significantly down-regulated in MS PBMCs and it is associated with aberrant methylation of their promoters. 24735979 Details
Protein Homo sapiens MS TET2 TET2 gene expression and 5-hydroxymethylcytosine level in multiple sclerosis peripheral blood cells We show that TET2 and DNMT1 expression is significantly down-regulated in MS PBMCs and it is associated with aberrant methylation of their promoters. 24735979 Details
Protein Homo sapiens MS LILRA3 Serum Leukocyte Immunoglobulin-Like Receptor A3 (LILRA3) Is Increased in Patients with Multiple Sclerosis and Is a Strong Independent Indicator of Disease Severity; 6.7kbp LILRA3 Gene Deletion Is Not Associated with Diseases Susceptibility LILRA3 protein level was significantly increased in sera of patients with MS when compared with control subjects, particularly in more severe type primary progressive MS. 26871720 Details
Protein Homo sapiens MS KIF5A Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal-appearing white matter We found a significant reduction in KIF5A and associated cargoes in MS white matter. 26785938 Details
Protein Homo sapiens MS PLTP Elevated Phospholipid Transfer Protein in Subjects with Multiple Sclerosis We have identified the anomaly as the phospholipid transfer protein by western blot using antiphospholipid transfer antibodies. Activity assays showed that the phospholipid transfer activity was elevated in fasted plasma samples from subjects with MS compared to controls. 26347820 Details
Protein Homo sapiens MS IL10 IL-10 Gene Polymorphisms and IL-10 Serum Levels in Patients with Multiple Sclerosis in Lithuania No statistically significant differences were observed between two groups. 35741685 Details
Protein Homo sapiens MS OPA1 PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein Levels Densitometric analysis of immuno-revealed bands of OPA1 (L+S) showed the same level of total OPA1protein in MS group with respect to HC.No difference was observed in percentage of L and S form of OPA1 between HC and SM samples.No differences were observed in Rf of L-OPA1 between HC and MS samples . 32290388 Details
Protein Homo sapiens MS PHB2 PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein Levels An increased PHB2 protein level was observed in MS patients. 32290388 Details
Protein Homo sapiens MS SIRT3 PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein Levels No difference was observed for SIRT3 protein level. 32290388 Details
Protein Homo sapiens MS MMP9 Matrix metalloproteinase-9 and matrix metalloproteinase-2 as biomarkers of various courses in multiple sclerosis A significant elevation in MMP-9 serum levels was found in the whole MS group, in the RRMS, and SPMS groups when compared with the controls. 19153173 Details
Protein Homo sapiens MS MMP2 Matrix metalloproteinase-9 and matrix metalloproteinase-2 as biomarkers of various courses in multiple sclerosis A significant elevation in MMP-2 serum levels was observed in the primary progressive and the SPMS groups when compared with the RRMS group, and this increase was also associated with the disability and severity of the disease. 19153173 Details
Protein Homo sapiens MS IL32 Association between interleukin-32 polymorphism and multiple sclerosis Serum levels of IL-32 were significantly different between MS patients and controls. IL-32 was dramatically higher in the patients than that healthy controls. 28716229 Details
Protein Homo sapiens MS IL27 IL27 T4730C Polymorphism and Serology in Multiple Sclerosis: A Pilot Study IL27 levels were significantly lower in patients compared to controls. 34410977 Details
Protein Homo sapiens MS C3 Hypocomplementaemic and normocomplementaemic multiple sclerosis. Genetic determinism and association with specific HLA determinants (B18 and B7) The frequency of low C3 is significantly higher in MS than that found in the normal group. 886365 Details
Protein Homo sapiens MS CFB Hypocomplementaemic and normocomplementaemic multiple sclerosis. Genetic determinism and association with specific HLA determinants (B18 and B7) Factor B is low in 63.3 % of the cases. 886365 Details
Protein Homo sapiens MS ELAVL1 Exploring the factors underlying remyelination arrest by studying the post-transcriptional regulatory mechanisms of cystatin F gene It was highly expressed in the border zone of MS plaques, but weakly expressed in the center of demyelinating plaques.In addition, HuR expression in microglia was significantly greater in the border area of MS plaques compared to that in the center area or normal myelin area. 32947653 Details
Protein Homo sapiens MS NECTIN2 The role of the polio virus receptor and the herpesvirus entry mediator B genes for the development of MS The studies did not disclose any expression difference between MS patients and controls for the protein on peripheral blood monocytes. 15465608 Details
Protein Homo sapiens MS PVR The role of the polio virus receptor and the herpesvirus entry mediator B genes for the development of MS The studies did not disclose any expression difference between MS patients and controls for the protein on peripheral blood monocytes. 15465608 Details
Protein Homo sapiens MS CX3CR1 Frequency of blood CX3CR1-positive natural killer cells correlates with disease activity in multiple sclerosis patients The data confirm that MS patients showed a reduced CX3CR1 protein expression compared with control individuals. 16144955 Details
Protein Homo sapiens MS PTGDS Lipocalin-type prostaglandin D synthase (beta-trace) is upregulated in the alphaB-crystallin-positive oligodendrocytes and astrocytes in the chronic multiple sclerosis The L-PGDS level in the CSF of MS patients was not considered to be significantly increased from normal level. 16409554 Details
Protein Homo sapiens MS CD40 The MS Risk Allele of CD40 Is Associated with Reduced Cell-Membrane Bound Expression in Antigen Presenting Cells: Implications for Gene Function Comparison of B lymphocyte expression of CD40 in MS patients failed to show a significant effect of genotype on surface CD40 expression levels in total B lymphocytes, nave B lymphocytes or classical memory B lymphocytes.However, comparison of cell surface CD40 expression on B-lymphocytes between healthy controls and MS patients showed that CD40 expression was significantly lower in MS patients compared to healthy controls in all CD19+ B-lymphocytes, as well as in the nave B lymphocytes, classical memory B-lymphocyte and IgM memory B lymphocyte subsets.A subset comparison of patients and unaffected controls homozygous for the rs1883832 C allele (CC) also demonstrated a significant decrease in CD40 expression on the total B—lymphocytes of MS patients compared to controls. 26068105 Details
Protein Homo sapiens MS ERVW-1 Anti-Human Herpesvirus 6 A/B Antibodies Titers Correlate With Multiple Sclerosis-Associated Retrovirus Envelope Expression pHERV-W ENV/syncytin-1 protein expression levels were significantly higher in MS patients compared to HD.Relating to PP-MS patients, they showed significantly higher protein expression levels in monocytes and NK cells compared to HD.Moreover, these patients showed significantly higher pHERV-W ENV/syncytin-1 protein expression levels in monocytes compared to RR-MS patients. 34912348 Details
Protein Homo sapiens MS IL1B Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis Normalized ILβ1 protein levels did not differ between HC and MS patients. 25458313 Details
Protein Homo sapiens MS IL1R1 Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis Normalized IL-1Ra protein levels were increased in MS patients compared to HC. 25458313 Details
Protein Homo sapiens MS GRN Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes No statistically significant differences were found in patients compared with either NIND, OIND or CON, even stratifying according to disease subtype or gender. 19963041 Details
Protein Homo sapiens MS IGHV4-34 B cell lymphoproliferative disorders and VH4-34 gene encoded antibodies Diseases such as multiple sclerosis (MS) display no increase in VH4-34 Ig. 15598986 Details
Protein Homo sapiens MS RFX5 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions RFX5 was expressed at a moderate level in microglial cells and astrocytes of normal control brain tissue.The phagocytic macrophages in the lesions were strongly positive for RFX5 expression. 11571785 Details
Protein Homo sapiens MS CIITA Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions CIITA was also moderately expressed in microglial cells, but weakly in astrocytes, and not in endothelial cells of the blood vessel walls in brain tissue of normal control cases. The phagocytic macrophages in the lesions were moderately positive for CIITA expression . 11571785 Details
Protein Homo sapiens MS NFKB1 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the NF-kB p50 and p65 subunits were expressed at weak to moderate levels.The NF-kB p50 and p65 subunits were moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS IRF1 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the IRF1 was expressed at weak to moderate levels.The IRF1 was moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS STAT1 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the STAT1 was expressed at weak to moderate levels.The STAT1 was moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS CREB1 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the CREB1 was expressed at weak to moderate levels.The CREB1 was moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS USF1 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the USF1 was expressed at weak to moderate levels.The USF1 was moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS USF2 Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions In microglial cells localized in normal control white matter, the USF2 was expressed at weak to moderate levels.The USF2 was moderately to strongly expressed in phagocytic macrophages in MS lesions . 11571785 Details
Protein Homo sapiens MS A2M No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis No difference was observed for the A2M levels between both groups. 11498265 Details
Protein Homo sapiens MS LEP Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis Leptin levels did not show significant differences between studied groups. 30219158 Details
Protein Homo sapiens MS ADIPOQ Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis Adiponectin levels were significantly higher in healthy controls compared to patients. 30219158 Details
Protein Homo sapiens MS CDH11 Genetic and infectious profiles influence cerebrospinal fluid IgG abnormality in Japanese multiple sclerosis patients The frequency of CSF IgG abnormality did not differ significantly between RRMS and SPMS. 24736746 Details
Protein Homo sapiens MS KIF5A KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis CSF KIF5A is elevated in MS CSF compared with non-inflammatory neurological disease control. 33484325 Details
Protein Homo sapiens MS KIF5A KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis CSF KIF5A expression is significantly elevated in progressive MS compared with CIS and RRMS. 33484325 Details
Protein Homo sapiens MS HLA-G Role of HLA-G 14bp deletion/insertion and +3142C>G polymorphisms in the production of sHLA-G molecules in relapsing-remitting multiple sclerosis A significant increase was found for sHLA-G levels detected in CSF samples from RR-MS patients with MRI inactivity compared with MRI active patients. 22922127 Details
Protein Homo sapiens MS NFKB1 Genetic variants associated with autoimmunity drive NFκB signaling and responses to inflammatory stimuli We found that nave CD4 cells from patients with MS exhibit significantly higher phospho-p65 NFκB than those from age-matched healthy control donors . 26062845 Details
Protein Homo sapiens MS MAP2 A novel microtubule-associated protein-2 expressed in oligodendrocytes in multiple sclerosis lesions By immunocytochemistry using a series of monoclonal antibodies specific for MAP-2+13, we determined that MAP-2+13 expression was up-regulated in all 31 lesions from 10 different MS brains. MAP-2+13 was expressed in regenerating oligodendrocytes associated with demyelinated lesions, with the highest counts found in regions of extensive remyelination. 10582615 Details
Protein Homo sapiens (human) MS BCL2 Bcl-2 expressing T lymphocytes in multiple sclerosis lesions Bcl-2 is expressed by T lymphocytes in MS plaques.Patients with chronic progressive MS have a higher proportion of bcl-2 expressing T cells than patients with relapsing remitting disease.Highest numbers of bcl-2-positive T lymphocytes were found in remyelinating and demyelinated lesions, whereas active demyelinating lesions revealed lower numbers. 9717185 Details
Protein Homo sapiens MS HLA-G HLA-G gene polymorphism and soluble HLA-G serum level in patients with multiple sclerosis We did not detect significantly different serum level of sHLA-G between groups. 29924453 Details
Protein Homo sapiens MS CCL20 The combined effect of IL-17F and CCL20 gene polymorphism in susceptibility to multiple sclerosis in Egypt The mean serum levels of CCL20 in the MS group were significantly higher than healthy group. 30399422 Details
Protein Homo sapiens MS IL2RA Relationship between soluble CD25 and gene expression in healthy individuals and patients with multiple sclerosis No significant differences were seen in the sCD25 levels between MS patients or MS subtypes and HCs. 28511943 Details
Protein Homo sapiens MS NPY Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis Serum NPY level was significantly higher in RR-MS and PR-MS than in healthy controls (p < 0.001 and p = 0.001, respectively), and it was lower in patients with mild or moderate/severe disease than in healthy controls (p < 0.001) 37013432 Details
Protein Homo sapiens MS TACR1 Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis Significant inverse correlations were found between SP level and MS disease duration (r = -0.279, p = 0.022) and duration of current DMT 37013432 Details
Protein Homo sapiens MS aCGRP Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis Serum aCGRP level was higher in PR-MS compared to RR-MS (p = 0.007) and healthy controls (p = 0.001), and it positively correlated with EDSS 37013432 Details
Protein Homo sapiens MS MST1R RON-Regulated Innate Immunity Is Protective in an Animal Model of Multiple Sclerosis RON mRNA and protein abundance in the CNS were diminished in both MS patients and the MS animal model, experimental autoimmune encephalomyelitis (EAE) 15929040 Details
Protein Homo sapiens MS APOE Differential DM20 mRNA Expression Distinguishes Two Distinct Patterns of Spontaneous Recovery From Murine Autoimmune Encephalomyelitis ApoE immunoreactivity was increased in demyelinated areas compared with control white matter. 10888365 Details
Protein Homo sapiens MS BIRC5 Dysregulation of microRNAs regulating survivin in CD4+ T cells in Multiple sclerosis The mRNA of survivin was 2-folds upregulated in the CD4+ T cells from MS patients in comparison to the healthy controls (P= 0.0053). Serum level of survivin was higher in patients than controls. There was statistically significant downregulation of miR-485 (P= 0.001) and miR-708 (P= 0.011) in CD4+ T cells of patients compared with controls. The miR-485 downregulation had statistically significant correlation with the mRNA expression and serum level of survivin. 32599467 Details
Protein Homo sapiens MS HLA-DRB1 Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15 Analysis of gray matter lesion size revealed a significant increase of cortical lesion size in cases with high HLA-DRB1 expression. 31882398 Details
Protein Homo sapiens MS MIR146A Common genetic variation within miR-146a predicts disease onset and relapse in multiple sclerosis the genotype (GC+CC) of rs2910164 predicted relapse compared with the GG genotype (HR=2.09 (95% CI 1.42, 3.06), p=0.0001), as well as a near-significant (p=0.07) association with MS conversion risk 29127522 Details
Protein Homo sapiens MS TNF Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR9 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
Protein Homo sapiens MS IL6 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR10 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
Protein Homo sapiens MS TLR9 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR11 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
Protein Homo sapiens MS IFNA2 Interferon-b Inhibits Toll-Like Receptor 9 Processing in Multiple Sclerosis This finding represents a novel immunomodulatory mechanism of IFN-b: inhibition of TLR12 processing. This results in decreased activation of pDCs by viral pathogens and, thus, may affect the frequency of MS exacerbations. 21061396 Details
Protein Homo sapiens MS CLEC16A The Role of Autoimmunity-Related Gene CLEC16A in the B Cell Receptor Mediated HLA Class II Pathway CLEC16A participates in the BCR-dependent HLA-II pathway in human B cells and that this regulation is impaired during MS disease onset. . 32641384 Details
Protein Homo sapiens MS HSPA4 Are Hsp70 protein expression and genetic polymorphism implicated in multiple sclerosis inflammation? indicating animplication of the G allele ofHSP70-2 gene polymorphism in the development ofMS. 24485944 Details
Protein Homo sapiens MS HSPA1B Response to oxidative stress of peripheral blood mononuclear cells from multiple sclerosis patients and healthy controls HSP70-2 does not seem to be central in the protection ofPBMCs 31720998 Details
Protein Homo sapiens MS PLP1 Association of New Putative Epitopes of Myelin Proteolipid Protein (58-74) with Pathogenesis of Multiple Sclerosis PLP58-74 can stimulate CD4+ T cells and humoral immunity. Therefore it seems that the epitopes of some microorganisms mimicking PLP such as PLP58-74 might have a potential role in the initiation of MS. 27917626 Details
Protein Homo sapiens MS SERPINA3 CSF SERPINA3 Levels Are Elevated in Patients With Progressive MS CSF SERPINA3 and S100A4 levels were significantly increased in the whole group of patients with MS compared with NINCs. 33436375 Details
Protein Homo sapiens MS S100A4 CSF SERPINA3 Levels Are Elevated in Patients With Progressive MS CSF SERPINA3 and S100A4 levels were significantly increased in the whole group of patients with MS compared with NINCs. 33436375 Details
Protein Homo sapiens MS CXCL12 Identification of gene expression patterns crucially involved in experimental autoimmune encephalomyelitis and multiple sclerosis we detected increased protein CXCL12 serum levels in both individuals with RRMS and SPMS compared to controls 27519689 Details
Protein Homo sapiens MS CLDN11 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 Detection of proteins by ELISA showed no significant differences in plasma concentration of MMP-2 and Claaudin-11 between two groups 26768647 Details
Protein Homo sapiens MS MMP2 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 Detection of proteins by ELISA showed no significant differences in plasma concentration of MMP-2 and Claaudin-11 between two groups 26768647 Details
Protein Homo sapiens MS TGFB1 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 the plasma levels of TGF-β1、TGF-β2 and TGF-β3 were significantly elevated in MS patients 26768647 Details
Protein Homo sapiens MS TGFB2 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 the plasma levels of TGF-β1、TGF-β2 and TGF-β3 were significantly elevated in MS patients 26768647 Details
Protein Homo sapiens MS TGFB3 Leukocyte Gene Expression and Plasma Concentration in Multiple Sclerosis: Alteration of Transforming Growth Factor-βs, Claudin-11, and Matrix Metalloproteinase-2 the plasma levels of TGF-β1、TGF-β2 and TGF-β3 were significantly elevated in MS patients 26768647 Details
Protein Homo sapiens MS LAG3 Fewer LAG-3+ T Cells in Relapsing-Remitting Multiple Sclerosis and Type 1 Diabetes Surface and intracellular LAG-3 protein is diminished after TCR stimulation in RRMS 35022272 Details
Protein Homo sapiens MS IL23A IL-23 is increased in dendritic cells in multiple sclerosis and down-regulation of IL-23 by antisense oligos increases dendritic cell IL-10 production IL-23 expression is eleveted in monocyte-derived DCs from MS patients both at the protein and mRNA levels 16751425 Details
Protein Homo sapiens MS IL1B Production of IL-1beta and IL-1Ra as risk factors for susceptibility and progression of relapse-onset multiple sclerosis we show that families that are characterized by high IL-1beta over IL-1Ra production ratio are at 2.2-fold (95% CI, 1.0-4.8; p=0.05) increased risk to have a patient relative with relapse-onset MS than families with a low ratio 12020968 Details
Protein Homo sapiens MS IL1RN Production of IL-1beta and IL-1Ra as risk factors for susceptibility and progression of relapse-onset multiple sclerosis we show that families that are characterized by high IL-1beta over IL-1Ra production ratio are at 2.2-fold (95% CI, 1.0-4.8; p=0.05) increased risk to have a patient relative with relapse-onset MS than families with a low ratio 12020968 Details
Protein Homo sapiens MS RUNX1 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis the protein levels of RUNX1, MAP2, NGF, BDNF and IL-10 were significantly decreased in MS patients compared to healthy controls 36754216 Details
Protein Homo sapiens MS MAP2 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis the protein levels of RUNX1, MAP2, NGF, BDNF and IL-10 were significantly decreased in MS patients compared to healthy controls 36754216 Details
Protein Homo sapiens MS NGF Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis the protein levels of RUNX1, MAP2, NGF, BDNF and IL-10 were significantly decreased in MS patients compared to healthy controls 36754216 Details
Protein Homo sapiens MS BDNF Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis the protein levels of RUNX1, MAP2, NGF, BDNF and IL-10 were significantly decreased in MS patients compared to healthy controls 36754216 Details
Protein Homo sapiens MS IL10 Diagnostic and prognostic value of the RUNXOR/RUNX1 axis in multiple sclerosis the protein levels of RUNX1, MAP2, NGF, BDNF and IL-10 were significantly decreased in MS patients compared to healthy controls 36754216 Details
Protein Homo sapiens MS NDFIP1 Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients the protective genotype induced a reduction to half the protein levels compared to major-allele carriers in healthy controls 34725369 Details
Protein Homo sapiens MS IL17A Circulating concentrations of interleukin (IL)-17 in patients with multiple sclerosis: Evaluation of the effects of gender, treatment, disease patterns and IL-23 receptor gene polymorphisms These results indicated higher levels of IL-17 in MS patients that may be influenced by disease patterns, medication and gender. No association was observed between investigated SNPs and MS. 28717429 Details
Protein Homo sapiens MS IL18 Interleukin 18 Polymorphisms and its serum level in Patients with Multiple Sclerosis In this study, we showed the significant higher IL-18 serum level and significant different frequencies of two polymorphisms of IL-18 in MS patients. These results show the important roles of IL-18 in MS pathogenesis. However, more studies are needed to verify our results in larger sample size. 31736573 Details
Protein Homo sapiens MS CD14 Polymorphisms in CD14 Gene May Modify Soluble CD14 Levels and Represent Risk Factors for Multiple Sclerosis In summary, we conclude that CD14-159 and -260 polymorphisms are associated with the risk of MS in Iranian population and affects CD14 promoter activity, thereby regulating CD14 expression. 27819517 Details
Protein Homo sapiens EAE Ccr2 CCR2+Ly-6Chi monocytes are crucial for the effector phase of autoimmunity in the central nervous system Selective depletion of this specific monocyte subpopulation through engagement of CCR2 strongly reduced central nervous system autoimmunity. 19531531 Details
Protein Homo sapiens MS IL6 MicroRNA-132 suppresses autoimmune encephalomyelitis by inducing cholinergic anti-inflammation: a new Ahr-based exploration IL6 (p \ 0.01, Fig. 1c) were found to increase with lower miR26a expression in PBLs of patients with RRMS or patients with relapsing MS 25362566 Details
Protein Homo sapiens MS FOXP3 MicroRNA-132 suppresses autoimmune encephalomyelitis by inducing cholinergic anti-inflammation: a new Ahr-based exploration the Foxp3 gene (p \ 0.05, Fig. 1b) showed the same pattern with miR26a. Using 25362566 Details
Protein Homo sapiens MS STAT1 Deficient Phosphorylation of Stat1 in Leukocytes Identifies Neutralizing Antibodies in Multiple Sclerosis Patients Treated with Interferon-Beta Based on this proof of concept study, we hypothesize that NAb effects can be monitored by evaluation of a single biomarker, pStat1, in either monocytes or T cells by phosphoflow directly after IFN-b administration. The method will significantly reduce cost relative to labor intensive in vitro methods and offers a patient-specific approach to NAb evaluation. 24586361 Details
Protein Homo sapiens MS CXCL10 Circulating mesenchymal stem cells, stromal derived factor (SDF)-1 and IP-10 levels increased in clinically active multiple sclerosis patients but not in clinically stable patients treated with beta interfero Circulating MSCs, IP-10 and SDF-1α levels, increased in RRMS patients with clinically active not on DMT and IFN-β therapy reduced circulating MSCs and SDF-1α levels. 31421626 Details
Protein Homo sapiens MS CXCR4 Circulating mesenchymal stem cells, stromal derived factor (SDF)-1 and IP-10 levels increased in clinically active multiple sclerosis patients but not in clinically stable patients treated with beta interfero Circulating MSCs, IP-10 and SDF-1α levels, increased in RRMS patients with clinically active not on DMT and IFN-β therapy reduced circulating MSCs and SDF-1α levels. 31421626 Details
Protein Homo sapiens MS MAPT Tau seeding in cases of multiple sclerosis Immuno-histochemistry with AT8 and MD3.1 confirmed prior reports of tau accumulation in MS. Although larger studies are required, our data suggest that progressive MS may be considered a secondary tauopathy 36221144 Details
Protein Homo sapiens MS SGPL1 A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome Among the exclusive binding partners of the risk variant, we describe the novel interaction with sphingosine 1-phosphate lyase (SGPL1)—a key enzyme for the creation of the sphingosine-1 phosphate gradient, which is relevant to the pathogenic process and therapeutic management of MS. 26433934 Details
Protein Homo sapiens MS EVI5 A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome We further show that an exonic SNP associated with risk induces changes in superficial hydrophobicity patterns of the coiled-coil domain of EVI5, which, in turns, affects the EVI5 interactome. Immunoprecipitation of wild-type and mutated EVI5 followed by mass spectrometry generated a roster of disease-specific interactors functionally linked to lipid metabolism. 26433934 Details
Protein Homo sapiens MS IL6ST Multiple sclerosis treatment effects on plasma cytokine receptor levels During natalizumab treatment we observed a decline in sgp130 and sIL-7Rα levels, while subsequent fingolimod treatment lead to increased sgp130 and sIL-7Rα and decreased sIL-2Rα levels. 28941836 Details
Protein Homo sapiens MS STIL Multiple sclerosis treatment effects on plasma cytokine receptor levels During natalizumab treatment we observed a decline in sgp130 and sIL-7Rα levels, while subsequent fingolimod treatment lead to increased sgp130 and sIL-7Rα and decreased sIL-2Rα levels. 28941836 Details
Protein Homo sapiens MS MMP3 Identification of a novel role for matrix metalloproteinase-3 in the modulation of B cell responses in multiple sclerosis Autopsied brain sections from multiple sclerosis patients containing aggregates of B cells expressed a significantly higher amount of matrix metalloproteinase-3 compared to controls 36389698 Details
Protein Homo sapiens MS HSPA4 Aberrant Stress-Induced Hsp70 Expression in Immune Cells in Multiple Sclerosis These results indicate that immune cells from MS patients are more prone to Hsp70 induction under stress conditions, suggesting a possible link between Hsp70 overexpression and development of auto-immunity. 20806409 Details
Protein Homo sapiens MS MPO Immunohistochemical and genetic evidence of myeloperoxidase involvement in multiple sclerosis This is the first evidence that MPO is present in microgliarmacrophages at MS lesions, that MPO gene expression occurs in microglia and that MPO plays a role in MS pathogenesis as shown by the allelic disequilibrium in early onset disease. 9307233 Details
Protein Homo sapiens MS TREM2 Soluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone Increased CSF levels of sTREM-2, a new marker of microglial activation, in MS and nor-malization upon treatment with either natalizumab or mitoxantrone support a role for microglial activa-tion in active MS. 26754805 Details
Protein Homo sapiens MS TNFRSF11B RANKL/RANK/OPG Axis Is Deregulated in the Cerebrospinal Fluid of Multiple Sclerosis Patients at Clinical Onset Our study revealed that changes of RANKL/RANK/OPG axis are associated with MS, particularly the decreased OPG level in the CSF at disease onset. Therefore, these factors may serve as disease bio-markers and molecular targets of novel therapeutic ap-proaches. 29920500 Details
Protein Homo sapiens MS LEP Polymorphism in Leptin and Leptin Receptor Genes May Modify Leptin Levels and Represent Risk Factors for Multiple Sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Protein Homo sapiens MS LEPR Polymorphism in Leptin and Leptin Receptor Genes May Modify Leptin Levels and Represent Risk Factors for Multiple Sclerosis Our study implicates a significant role of LEP and LEPR polymorphisms and also leptin levels in the risk of MS and its severity. 27105071 Details
Protein Homo sapiens MS IFNAR2 Soluble Receptor Isoform of IFN-Beta (sIFNAR2) in Multiple Sclerosis Patients and Their Association With the Clinical Response to IFN-Beta Treatment IFN-b administration induces the production of sIFNAR2 in RRMS and higher levels might be associated to the reduction of therapeutic response. Thus, levels of sIFNAR2 could be monitored to optimize an effective response to IFN-b therapy. 34975865 Details
Protein Homo sapiens MS IL17A Identification and Clinical Validation of Key Extracellular Proteins as the Potential Biomarkers in Relapsing-Remitting Multiple Sclerosis IL17A, IL2, CD44, and IGF1 may be key extracellular proteins in the pathogenesis of MS. IL17A, Del-1, and resolvinD1 may co-regulate the development of MS and Del-1 is a potential biomarker of MS. 34950135 Details
Protein Homo sapiens MS EDIL3 Identification and Clinical Validation of Key Extracellular Proteins as the Potential Biomarkers in Relapsing-Remitting Multiple Sclerosis IL17A, IL2, CD44, and IGF1 may be key extracellular proteins in the pathogenesis of MS. IL17A, Del-1, and resolvinD1 may co-regulate the development of MS and Del-1 is a potential biomarker of MS. 34950135 Details
Protein Homo sapiens MS MIR29B1 MicroRNA-29b variants and MxA expression change during interferon beta therapy in patients with relapsing-remitting multiple sclerosis Our results might provide fundamentals for the development of new markers of the biological effects of IFN-β therapy 31421628 Details
Protein Homo sapiens MS IL17A RORct Expression and Lymphoid Neogenesis in the Brain of Patients with Secondary Progressive Multiple Sclerosis Thus, there is selective migration or survival of RORct-positive cells in MS patient meninges and an association of these cells with ELS. 27413074 Details
Protein Homo sapiens MS RORC RORct Expression and Lymphoid Neogenesis in the Brain of Patients with Secondary Progressive Multiple Sclerosis Thus, there is selective migration or survival of RORct-positive cells in MS patient meninges and an association of these cells with ELS. 27413074 Details
Protein Homo sapiens MS NEFL Neurofilament levels are associated with blood–brain barrier integrity, lymphocyte extravasation, and risk factors following the first demyelinating event in multiple sclerosis sNfL levels during the first demyelinating event of MS are associated with greater impair-ment of BBB integrity, immune cell extravasation, and brain lesion activity on MRI. 32255388 Details
Protein Homo sapiens MS IL12RB2 Higher expression of IL-12Rβ2 is associated with lower risk of relapse in relapsing–remitting multiple sclerosis patients on interferon-β1b therapy during 3-year follow-up Higher IL-12Rβ2 m R N A l e v e l s were associated with lower risk of relapse. Despite recent reports regarding role of GM-CSF in MS, our study failed to demonstrate its significance as therapy response biomarker, both on the mRNA and protein level. 26439963 Details
Protein Homo sapiens EAE Creb1 Increased phosphorylation of cyclic AMP response element-binding protein in the spinal cord of Lewis rats with experimental autoimmune encephalomyelitis Based on these results, we suggest that the increased phosphorylation of CREB in EAE lesions was mainly attributable to the infiltration of inflammatory cells and astrogliosis, possibly activating gene transcription,and that its increase in the sensory neurons in the dorsal horns is involved in the generation of neuropathic pain in the rat EAE model. 17617386 Details
Protein Homo sapiens MS TALDO1 Comparative Analysis of Antibody and Cell-mediated Autoimmunity to Transaldolase and Myelin Basic Protein in Patients with Multiple Sclerosis The results suggest that TAL may be a more potent immunogen than MBP in MS. 9077532 Details
Protein Homo sapiens EAE Kcna3 Voltage Gated Potassium Channel Kv1.3 Is Upregulated on Activated Astrocytes in Experimental Autoimmune Encephalomyelitis Our results support the hypothesis that Kv1.3 may be a therapeutic target of interest for MS and add astrocytes to the list of cells whose activation would be suppressed by inhibiting Kv1.3 in inflammatory conditions. 29574670 Details
Protein Homo sapiens MS ATG16L2 Autophagy-related gene16L2, a potential serum biomarker of multiple sclerosis evaluated by bead-based proteomic technology Eleven peptides were significantly different between the two groups with one being identified as a fragment of Atg16L2. 24406150 Details
Protein Homo sapiens MS GAS6 Growth Arrest Specific Gene 6 Protein Concentration in Cerebrospinal Fluid Correlates with Relapse Severity in Multiple Sclerosis CSF concentration of Gas6 is inversely correlated with the severity of relapse in RR-MS patients but does not predict the subsequent course of the disease. 23781120 Details
Protein Homo sapiens MS CHI3L1 Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis Plasma CHI3L1 levels were significantly increased in patients with progressive forms of MS compared with RRMS patients and HC. 22183936 Details
Protein Homo sapiens MS B4GALT6 Regulation of astrocyte activation by glycolipids drives chronic CNS inflammation We found increased expression of B4GALT5 (2.15±0.28 fold) and B4GALT6 (8.26±2.11 fold) in MS lesions, but not in normal appearing white matter (NAWM) or controls 25216636 Details
Protein Homo sapiens MS Rgcc RGC-32 regulates reactive astrocytosis and extracellular matrix deposition in experimental autoimmune encephalomyelitis RGC-32 and ECM components are expressed in MS lesions 30006805 Details
Protein Homo sapiens MS NINJ2 Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis NINJ2 is Down-Regulated after Pro-Inflammatory Stimulation in Monocytes and in THP-1 Cells. 36360183 Details
Protein Homo sapiens MS ASIC1 Targeting ASIC1 in primary progressive multiple sclerosis: evidence of neuroprotection with amiloride In chronic brain lesions of patients with progressive multiple sclerosis, we demonstrate an increased expression of ASIC1 in axons and an association with injury markers within chronic inactive lesions. 23365093 Details
Protein Homo sapiens MS SPP1 Elevated osteopontin levels in active relapsing-remitting multiple sclerosis In contrast, OPN protein levels in primary progressive and secondary progressive MS patients were similar to healthy control levels. Interestingly, active relapsing-remitting patients had higher OPN protein levels than patients without relapses 12783433 Details
Protein Homo sapiens MS PDCD1 Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8 T Cells in Multiple Sclerosis In the disease remission state, PD-1CD8 T cells were decreased in the peripheral blood of patients with MS and resolved in patients treated with IFN-β treatment who showed immune regulatory cytokine interleukin (IL)-10 expression. 35383094 Details
Protein Homo sapiens MS PTPN6 Interferon-beta treatment in multiple sclerosis attenuates inflammatory gene expression through inducible activity of the phosphatase SHP-1 As previously described, PBMCs of MS patients contained significantly lower levels of SHP-1 protein compared to normal subjects 19559654 Details
Protein Homo sapiens MS OTUB1 OTUB1 inhibits CNS autoimmunity by preventing IFN-γ-induced hyperactivation of astrocytes Activated GFAP astrocytes in white matter MS lesions with inflammatory infiltrates and demyelination show an upregulation of OTUB1 (arrows). 30944096 Details
Protein Homo sapiens MS DDX39B Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk. 28340352 Details
Protein Homo sapiens MS CTLA4 The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease We analyzed our previous data on CTLA-4 protein expression in CD4 T cells freshly obtained from patients with MS in the context of the CTLA-4 gene polymorphisms determined. 19740340 Details
Protein Homo sapiens MS PPARG Proinflammatory stimulation and pioglitazone treatment regulate peroxisome proliferator-activated receptor gamma levels in peripheral blood mononuclear cells from healthy controls and multiple sclerosis patients Surprisingly, MS patients exhibited decreased PPAR-gamma levels compared with controls. 16210596 Details
Protein Homo sapiens MS IGFBP7 Discovery of Novel Biomarkers for Diagnosing and Predicting the Progression of Multiple Sclerosis Using TMT-Based Quantitative Proteomics Compared to NINCs, the level of CSF IGFBP7 was significantly upregulated, and the level of CSF SST was significantly downregulated in the MS group. 34489947 Details
Protein Homo sapiens MS SST Discovery of Novel Biomarkers for Diagnosing and Predicting the Progression of Multiple Sclerosis Using TMT-Based Quantitative Proteomics Compared to NINCs, the level of CSF IGFBP7 was significantly upregulated, and the level of CSF SST was significantly downregulated in the MS group. 34489947 Details
Protein Homo sapiens MS Klrb1c CD161(high)CD8+T cells bear pathogenetic potential in multiple sclerosis Flow cytometric analysis on peripheral blood of healthy donors and patients with multiple sclerosis and rheumatoid arthritis confirmed an upregulation of CD161 at the protein level, showing also a significant excess of CD161(high)CD8(+) T cells in multiple sclerosis. 21216829 Details
Protein Homo sapiens MS NR4A1 Microarray analysis identifies altered regulation of nuclear receptor family members in the pre-disease state of multiple sclerosis We further confirmed the findings by demonstrating low levels of NR4A1 protein in MS2b subjects, RRMS patients, and EAE rats. 20079437 Details
Protein Homo sapiens MS ACKR1 Single-Cell Transcriptomics Identifies Brain Endothelium Inflammatory Networks in Experimental Autoimmune Encephalomyelitis We confirmed the elevated expression of ACKR1 (coding for the protein DARC, Figure 5, B and C) and LCN2 (coding for the protein lipocalin 2, Figure 5, B and D) on blood vessels in active MS lesions, compared with normal appearing white matter (NAWM) and with control brains. 36446612 Details
Protein Homo sapiens MS LCN2 Single-Cell Transcriptomics Identifies Brain Endothelium Inflammatory Networks in Experimental Autoimmune Encephalomyelitis We confirmed the elevated expression of ACKR1 (coding for the protein DARC, Figure 5, B and C) and LCN2 (coding for the protein lipocalin 2, Figure 5, B and D) on blood vessels in active MS lesions, compared with normal appearing white matter (NAWM) and with control brains. 36446612 Details
Protein Homo sapiens MS TALDO1 Oligodendrocyte-specific Expression and Autoantigenicity of Transaldolase in Multiple Sclerosis Presence of crossreactive antigenic epitopes between recombinant TAL-H and HTLV-I/human immunodeficiency virus type 1 (HIV-1) gag proteins was demonstrated by Western blot analysis. The results suggest that molecular mimicry between viral core proteins and TAL-H may play a role in breaking immunological tolerance and leading to a selective destruction of oligodendrocytes in MS 7964452 Details
Protein Homo sapiens MS TCF7L2 Limited TCF7L2 Expression in MS Lesions our data demonstrate that the expression of TCF7L2 in oligodendrocytes is limited to a certain differentiation stage; however the expression of TCF7L2 is neither restricted to the oligodendroglial lineage nor to (re-)myelinating conditions 23977356 Details
Protein Homo sapiens MS IFNAR1 The Role of Endogenous IFN-b in the Regulation of Th17 Responses in Patients with Relapsing-Remitting Multiple Sclerosis In vivo recombinant IFN-b–1a treatment induced IFNAR1 and its downstream signaling molecules’ gene expression, suggesting that treatment reconstitutes a deficient endogenous IFN-b regulation of the CD4+ T cells’ pathogenic cytokine production in patients with MS. 24850724 Details
Protein Homo sapiens MS TNFSF10 Role of serum TRAIL level and TRAIL apoptosis gene expression in multiple sclerosis and relation to brain atrophy No significant correlation was detected between the serum TRAIL level and the TRAIL mRNA expression ratio in either group. No statistically significant correlation was found between serum TRAIL levels or the TRAIL mRNA expression ratio with the number of black holes or the bicaudate ratio on MRI. Apoptosis of T lymphocytes is decreased in MS patients, which could be useful when designing treatments. There was no difference in the TRAIL mRNA gene expression ratio between MS patients and controls 24913933 Details
Protein Homo sapiens MS TBX21 Immunoregulatory Effects of Silymarin on Proliferation and Activation of Th1 Cells Isolated from Newly Diagnosed and IFN-1b-Treated MS Patients IFN-γ level at a concentration of 100 μM in comparison with DMSO. Our findings here clearly show that silymarin is an effective regulator for Th1 response in vitro condition. It not only suppresses Th1 proliferating activity but also inhibits T-bet gene expression and IFN-γ production by these cells 30178232 Details
Protein Homo sapiens MS CD40 Critical Role of Tumor Necrosis Factor-a and NF-B in Interferon-+-induced CD40 Expression in Microglia/Macrophages IFN-r treatment leads to the activation of NF-B in a time-dependent manner, which is inhibited in the presence of anti-TNF-β-neutralizing antibody. These results indicate that IFN-+-induced TNF-β production and subsequent NF-B activation are integral parts of the mechanism of IFN-+-induced CD40 expression 11830590 Details
Protein Homo sapiens MS MBP Expression of Green Fluorescent Protein in Oligodendrocytes in a Time- and LevelControllable Fashion with a TetracyclineRegulated System Our data indicate that this inducible gene expression system is useful for the study of gene function in vivo and for the development of transgenic animal models relevant to human diseases such as multiple sclerosis 10203578 Details
Protein Homo sapiens MS FGF2 Inducible expression of FGF2 by a rat oligodendrocyte precursor cell line promotes CNS myelination in vitro The data presented here demonstrate that upon induction with Dox, CG4-FGF2 cells retain their capacity to differentiate in vitro. Additionally, we provide evidence that FGF2 release by engineered cells enhance proliferation and migration of cells of the oligodendrocyte lineage without preventing them to differentiate and myelinate axons in vitro 14769383 Details
Protein Homo sapiens MS NOS2 Role of protein kinase R in double-stranded RNA-induced expression of nitric oxide synthase in human astroglia This study delineates a novel role of dsRNA in inducing the expression of iNOS through dsRNAactivated protein kinase (PKR)-mediated activation of NF-UB and p38-mediated activation of C/EBPL in human astroglia that may participate in virus-induced neurological abnormalities 15063753 Details
Protein Homo sapiens MS TF Delayed Maturation of Oligodendrocyte Progenitors by Microgravity: Implications for Multiple Sclerosis and Space Flight analysis of the secretome demonstrated that SPC-OLPs contained 3.5 times more Tf than that of GC cells, indicating that Tf is gravitationally regulated, opening two main fields of study to understand the upregulation of the Tf gene and secretion of the protein that keep OLPs at a progenitor stage rather than moving forward to more mature phenotypes. Alternatively, because Tf is an autocrine and paracrine factor in the central nervous system (CNS), in the absence of neurons, it accumulated in the secretome collected after space flight 35743828 Details
Protein Homo sapiens MS NFATC2 TNF-a Contributes to Caspase-3 Independent Apoptosis in Neuroblastoma Cells: Role of NFAT These data demonstrate that TNF-a promotes FasL expression through NFAT activation in neuroblastoma cells and this event leads to increased apoptosis through independent caspase-3 activation. 21298033 Details
Protein Homo sapiens MS BDNF Title: Elevation of Ser9 phosphorylation of GSK3 is required for HERV-W env-mediated BDNF signaling in human U251 cells These results indicated that phosphorylation of GSK3β at Ser9 might be involved in HERV-W env-induced BDNF expression, and will hopefully improve our understanding of the role of HERV-W env in neurological and psychiatric diseases 27235578 Details
Protein Homo sapiens MS TREM1 TREM2 expression in the brain and biological fuids in prion diseases sTREM2 in the CSF of cases with Alzheimer’s disease, and multiple sclerosis was not signifcantly altered in our series 33881612 Details
Protein Homo sapiens MS P2RY12 Purinergic Receptor Expression and Potential Association with Human Embryonic Stem Cell-Derived Oligodendrocyte Progenitor Cell Development Elucidation of the expression pattern of purinergic receptors and the effects of different subtypes of these receptors in hESC-OPCs may have a promising role in future cell-based therapy or drug design for demyelinating disease. 28836401 Details
Protein Homo sapiens chronic neurodegenerative diseases (e.g., Alzheimer′s disease, Parkinson′s disease, multiple sclerosis, amyotrophic lateral sclerosis) AKT1 LXW7 attenuates inflammation via suppressing Akt/nuclear factor kappa B and mitogen-activated protein kinases signaling pathways in lipopolysaccharide-stimulated BV2 microglial cells The anti-inflammatory effects of LXW7 may be associated with the inhibition of microglial activation via Akt/NF-κB and JNK/MAPK signaling pathways by blocking integrin αvβ3 receptor. The present study′s findings suggest that LXW7 has a substantial therapeutic potential for treating inflammatory and neurodegenerative diseases. 31732449 Details
Protein Homo sapiens MS、primary immune thrombocytopenia FOXP3 A unique thymus-derived regulatory T cell subset associated with systemic lupus erythematosus CD4+ Foxp3+ T cells were increased in SLE patients compared with organ-specific autoimmune disease controls or healthy controls. Circulating CD4+ Foxp3+ T cells were correlated with the disease activity of SLE. The increased CD4+ Foxp3+ T cells in active SLE patients were mainly derived from thymus-derived Treg (tTreg) cells, as determined by a demethylated TSDR status, and represented a unique phenotype, upregulated expression of CD49d, CD161, and IL-17A, with immunosuppressive ability comparable to that of healthy controls. Finally, CD4+ Foxp3+ IL-17A+ cells were infiltrated into the renal biopsy specimens of patients with active lupus nephritis. 32317002 Details
Protein Homo sapiens MS CCL5 Glatiramer acetate inhibition of tumor necrosis factor-a-induced RANTES expression and release from U-251 MG human astrocytic cells glatiramer acetate may exert its therapeutic effect in MS partially through inhibiting NF-kB activation and chemokine production 11389171 Details
Protein Homo sapiens MS CCL5 Comparison of RANTES chemokine induction by Thl cytokines in human astroglial cell lines U-105MG cells treated with TNF-a and IL-l alone or in combination markedly induced increases in the rate of transcription of the RANTES chemokine gene 11408956 Details
Protein Homo sapiens multiple sclerosis, psoriasis and type 1 diabetes IL2 Clofazimine Inhibits Human Kv1.3 Potassium Channel by Perturbing Calcium Oscillation in T Lymphocytes clofazimine is a promising immunomodulatory drug candidate for treating a variety of autoimmune disorders. 19104661 Details
Protein Homo sapiens multiple sclerosis or traumas such as spinal cord injury OLIG2 Production and isolation of NG2+ oligodendrocyte precursors from human embryonic stem cells in defined serum-free medium OPCs were differentiated as spheres in defined serum-free medium supplemented with recombinant human growth factors. A broad gene expression analysis revealed that this OPC population expressed Olig1/2, Sox10, PDGFR, Nkx2.2, Nkx6.2, oligodendrocyte-myelin glycoprotein, myelin basic protein (MBP), and proteolipid protein (PLP). According to quantitative RTPCR analyses addition of ciliary neurotrophic factor (CNTF) upregulated the Olig2 mRNA levels in the OPC population. According to the flow cytometry analyses the OPC population was N90% NG2-positive, N80% PDGFR-positive, and N60% CD44-positive, and further matured into O4- (45%) and GalC- (80%) positive oligodendrocyte populations when cultured on top of human extracellular matrix proteins, which were used instead of Matrigel. In addition, OPCs matured into myelin-forming cells when cocultured with neuronal cells. 20538536 Details
Protein Homo sapiens MS TLR4 Human Endogenous Retrovirus Type W Envelope Protein Inhibits Oligodendroglial Precursor Cell Differentiation We demonstrated that the ENV protein is present in close proximity to TLR4-expressing oligodendroglial precursor cells adjacent to multiple sclerosis lesions. Human and rat oligodendroglial precursor cells expressed TLR4, and the ENV-mediated activation of TLR4 led to the induction of proinflammatory cytokines and inducible nitric oxide synthase as well as the formation of nitrotyrosine groups and a subsequent reduction in myelin protein expression.Interpretation: Our findings suggest that ENV-mediated induction of nitrosative stress via activation of TLR4 results in an overall reduction of the oligodendroglial differentiation capacity, thereby contributing to remyelination failure.Therefore, pharmacological or antibody-mediated inhibition of ENV may prevent the blockade of myelin repair in the diseased or injured central nervous system. 23836485 Details
Protein Homo sapiens neurodegenerative disease ERVW-1 Silver nanoparticles exhibit size-dependent differential toxicity and induce expression of syncytin-1 in FA-AML1 and MOLT-4 leukaemia cell lines AgNPs induce syncytin-1 expression in leukaemic cell lines 27576335 Details
Protein Homo sapiens optic neuritis (ON) CYP4F2 Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration The higher IL-17A levels were found to be associated with ON, while allele A at rs1558139 was associated only with ON with MS in male patients 29736281 Details
Protein Homo sapiens optic neuritis (ON) IL17A Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration The higher IL-17A levels were found to be associated with ON, while allele A at rs1558139 was associated only with ON with MS in male patients 29736281 Details
Protein Homo sapiens MS FA2H A novel neurodegenerative spectrum disorder in patients with MLKL deficiency The findings may suggest that impaired necroptosis is a novel mechanism of neurodegeneration, promoting a disorder that shares some clinical features with primary progressive multiple sclerosis (PPMS) and other neurodegenerative diseases 32358523 Details
Protein Homo sapiens HIVinfected、MS NT5E Elevated ATP via enhanced miRNA-30b, 30c, and 30e downregulates the expression of CD73 in CD8+ T cells of HIV-infected individuals ATP-mediated downregulation of CD73 mainly occurs via its receptor, P2X1/P2RX1. Our results may in part explain why HIV-infected individuals have reduced risk of developing MS considering the role of CD73 for efficient T cell entry into the central nervous system 35325005 Details
Protein Homo sapiens MS PTPRC T cell distribution in cerebrospinal fluid and peripheral blood of patients with multiple sclerosis These results suggest that V61 + and V62 + y6 T cells with altered CD45 expression are reduced in CSF of patients with established MS. This finding may be related to sequestration or apoptosis of y8 T cells within active MS lesions. 7853024 Details
Protein Homo sapiens MS ERVW-1 Human endogenous retrovirus (HERV)-W ENV and GAG proteins: Physiological expression in human brain and pathophysiological modulation in multiple sclerosis lesions This is compatible with a pathophysiological role in MS, but also illustrates the ambivalence of such HERV antigens, which can be expressed in cell-specific patterns, under physiological or pathological conditions 15804956 Details
Protein Homo sapiens MS SPP1 Osteopontin gene haplotypes correlate with multiple sclerosis development and progression These data suggest that OPN genotypes may influence MS development and progression due to their influence on OPN levels 15885319 Details
Protein Homo sapiens MS PTPRC The 77C3G Mutation in the Human CD45 (PTPRC) Gene Leads to Increased Intensity of TCR Signaling in T Cell Lines from Healthy Individuals and Patients with Multiple Sclerosis These data suggest that 77C3G may act as a risk factor for certain diseases by increasing the intensity of TCR signaling 16393978 Details
Protein Homo sapiens MS CD200 Downregulation of Macrophage Inhibitory Molecules in Multiple Sclerosis Lesions These data suggest that diminished immune inhibition via decreased CD200 and CD47 expression contributes to a disturbed equilibrium in macrophage and microglia activation in MS lesions. Furthermore, this may result in a proinflammatory predisposition in the area surrounding chronic active lesions, thereby contributing to axonal injury, demyelination, and possible lesion expansion 17879969 Details
Protein Homo sapiens MS CD47 Downregulation of Macrophage Inhibitory Molecules in Multiple Sclerosis Lesions These data suggest that diminished immune inhibition via decreased CD200 and CD47 expression contributes to a disturbed equilibrium in macrophage and microglia activation in MS lesions. Furthermore, this may result in a proinflammatory predisposition in the area surrounding chronic active lesions, thereby contributing to axonal injury, demyelination, and possible lesion expansion 17879969 Details
Protein Homo sapiens MS MBP Inflammatory Proprotein Convertase-Matrix Metalloproteinase Proteolytic Pathway in Antigen-presenting Cells as a Step to Autoimmune Multiple Sclerosis These data suggest that MMP-25 plays an important role in MS pathology and that MMP-25, especially because of its restricted cell/tissue expression pattern and cell surface/lipid raft localization, is a promising drug target in MS 19726693 Details
Protein Homo sapiens MS FOXP3 Characterization of Autologous Mesenchymal Stem Cell-Derived Neural Progenitors as a Feasible Source of Stem Cells for Central Nervous System Applications in Multiple Sclerosis the reduced expression of mesodermal markers and reduced capacity for adipogenic or osteogenic differentiation in MSC-NPs compared with MSCs suggested that MSC-NPs have reduced potential of unwanted mesodermal differentiation upon CNS transplantation. The immunoregulatory function of MSC-NPs was similar to that of MSCs in their ability to suppress T-cell proliferation and to promote expansion of FoxP3-positive T regulatory cells in vitro. In addition, MSC-NPs promoted oligodendroglial differentiation from brain-derived neural stem cells that correlated with the secretion of bioactive factors. Our results provide a set of identity characteristics for autologous MSC-NPs and suggest that the in vitro immunoregulatory and trophic properties of these cells may have therapeutic value in the treatment of MS 23197858 Details
Protein Homo sapiens MS BACH2 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
Protein Homo sapiens MS PDCD5 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
Protein Homo sapiens MS FOXP3 The Footprints of Poly-autoimmunity: evidence for common Biological Factors involved in Multiple sclerosis and hashimoto’s Thyroiditis Our findings support the plausibility of the existence of common deregulated mechanisms shared by MS and HT, such as BACH2/PDCD5-FOXP3 pathways and Tregs 29527211 Details
Protein Homo sapiens MS ETS1 MiR-1-3p facilitates Th17 differentiation associating with multiple sclerosis via targeting ETS1 The study demonstrated the positive role of miR-1-3p in Th17 differentiation associated with MS via targeting ETS1. 32633381 Details
Protein Homo sapiens MS、EAE IL1B NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients Altogether, these results point to a role of IL1B and the NLRP3 inflammasome as prognostic biomarker and potential therapeutic target, respectively, in patients with primary progressive multiple sclerosis. 32282893 Details
Protein Homo sapiens MS HHEX Unraveling the Influence of HHEX Risk Polymorphism rs7923837 on Multiple Sclerosis Pathogenesis The present study evidenced statistically significant lower HHEX mRNA levels in lymphocytes of MS patients compared to those of controls, showing a similar trend in MS patients to the already described eQTL effect in blood from healthy individuals. Even though no differences were found in protein expression according to HHEX genotypes, statistically significant divergent subcellular distributions of HHEX appeared in patients and controls. The epistatic interaction detected between BCL6 and HHEX MS-risk variants in healthy individuals was absent in patients, indicative of a perturbed reciprocal regulation in the latter. Lymphocytes from MS carriers of the homozygous mutant genotype exhibited a distinctive, more energetic profile, both in resting and activated conditions, and significantly increased glycolytic rates in resting conditions when compared to controls sharing the HHEX genotype. In contrast, significantly higher mitochondrial mass was evidenced in homozygous mutant controls. 35887298 Details
Protein Homo sapiens EAE HDAC1 A T cell-specific deletion of HDAC1 protects against experimental autoimmune encephalomyelitis EAE susceptibility was restored in WT:HDAC1-cKO mixed BM chimeric mice, indicating a cell-autonomous defect. Our data demonstrate a novel pathophysiological role for HDAC1 in EAE and provide evidence that selective inhibition of HDAC1 might be a promising strategy for the treatment of MS 28964722 Details
Drug Homo sapiens MS IL6 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity IFN-b inhibits TNF-a, iNOS and IL-6 mRNA expression induced by IL-1/IFN-c. Pre- ()16 h), co- (0 h) and post-treatment (4 h) with IFN-b relative to the timing of IL-1/IFN-c addition show that pretreatment resulted in a greater inhibition of mRNA expression. 12437583 Details
Drug Homo sapiens MS NOS2 Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity IFN-b inhibits TNF-a, iNOS and IL-6 mRNA expression induced by IL-1/IFN-c. Pre- ()16 h), co- (0 h) and post-treatment (4 h) with IFN-b relative to the timing of IL-1/IFN-c addition show that pretreatment resulted in a greater inhibition of mRNA expression. 12437583 Details
Drug Homo sapiens MS TNF Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity IFN-b inhibits TNF-a, iNOS and IL-6 mRNA expression induced by IL-1/IFN-c. Pre- ()16 h), co- (0 h) and post-treatment (4 h) with IFN-b relative to the timing of IL-1/IFN-c addition show that pretreatment resulted in a greater inhibition of mRNA expression. 12437583 Details
Drug Homo sapiens MS IL1A Modulation of astrocyte inducible nitric oxide synthase and cytokine expression by interferon beta is associated with induction and inhibition of interferon gamma-activated sequence binding activity Northern blot analysis for TNF-a, IL-6 and iNOS demonstrated that IFN-b enhanced mRNA expression induced by IL-1 alone. 12437583 Details
Drug Homo sapiens MS LILRB1 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS LILRB4 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS LILRB2 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS LILRB3 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS IDO1 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS CD274 Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection Surprisingly, short-term IFN-β induced little shift in Th1/Th17/Th2 gene expression, but up-regulated immune-inhibitory genes(ILT, IDO1, PD-L1). 31648992 Details
Drug Homo sapiens MS SOD2 Evidence for possible role of melatonin in reducing oxidative stress in multiple sclerosis through its effect on SIRT1 and antioxidant enzymes whereas melatonin treatment caused a pronounced increase in MnSOD mRNA expression and activity only in patients. 26679105 Details
Drug Homo sapiens MS TNFSF10 TNF-related apoptosis inducing ligand (TRAIL) as a potential response marker for interferon-beta treatment in multiple sclerosis Our results showed that in patients with multiple sclerosis, expression of both MxA and TRAIL in peripheral blood mononuclear cells increased significantly both in the immediate short term, and in the long term after treatment with interferon beta. 12814715 Details
Drug Homo sapiens MS MX1 TNF-related apoptosis inducing ligand (TRAIL) as a potential response marker for interferon-beta treatment in multiple sclerosis Our results showed that in patients with multiple sclerosis, expression of both MxA and TRAIL in peripheral blood mononuclear cells increased significantly both in the immediate short term, and in the long term after treatment with interferon beta. 12814715 Details
Drug Homo sapiens MS MIR26A1 Small non-coding RNA signature in multiple sclerosis patients after treatment with interferon-β MiR-26a-5p expression was significantly higher in IFN-β treated RRMS patients at 3 months treatment, keeping quite stable at 6 months treatments. 24885345 Details
Drug Homo sapiens MS CD80 Cladribine Treatment for MS Preserves the Differentiative Capacity of Subsequently Generated Monocytes, Whereas Its Administration In Vitro Acutely Influences Monocyte Differentiation but Not Microglial Activation In addition, MDMs treated with cladribine showed increased expression of costimulatory molecules CD80 and CD40, as well as expression of anti-inflammatory, pro-trophic genes IL10 and MERTK, depending on the differentiation condition. Cladribine treatment in vitro. 35734180 Details
Drug Homo sapiens MS CD40 Cladribine Treatment for MS Preserves the Differentiative Capacity of Subsequently Generated Monocytes, Whereas Its Administration In Vitro Acutely Influences Monocyte Differentiation but Not Microglial Activation In addition, MDMs treated with cladribine showed increased expression of costimulatory molecules CD80 and CD40, as well as expression of anti-inflammatory, pro-trophic genes IL10 and MERTK, depending on the differentiation condition. Cladribine treatment in vitro. 35734180 Details
Drug Homo sapiens MS IL10 Cladribine Treatment for MS Preserves the Differentiative Capacity of Subsequently Generated Monocytes, Whereas Its Administration In Vitro Acutely Influences Monocyte Differentiation but Not Microglial Activation In addition, MDMs treated with cladribine showed increased expression of costimulatory molecules CD80 and CD40, as well as expression of anti-inflammatory, pro-trophic genes IL10 and MERTK, depending on the differentiation condition. Cladribine treatment in vitro. 35734180 Details
Drug Homo sapiens MS MERIK Cladribine Treatment for MS Preserves the Differentiative Capacity of Subsequently Generated Monocytes, Whereas Its Administration In Vitro Acutely Influences Monocyte Differentiation but Not Microglial Activation In addition, MDMs treated with cladribine showed increased expression of costimulatory molecules CD80 and CD40, as well as expression of anti-inflammatory, pro-trophic genes IL10 and MERTK, depending on the differentiation condition. Cladribine treatment in vitro. 35734180 Details
Drug Homo sapiens MS TGFB2 Vitamin D levels in multiple sclerosis patients: Association with TGF-β2, TGF-βRI, and TGF-βRII expression Expression of TGF-β2 mRNA increased 2.84-fold 26037400 Details
Drug Homo sapiens MS CCL27 Assessment of CCL27 and IL-11 in Multiple Sclerosis Patients Treated with Interferon-β and Glatiramer Acetate A significant decrease was observed in the serum level of CCL27 in treatment-nave patients and IFN-β1b-treated patients compared to the healthy controls. 31935737 Details
Drug Homo sapiens MS IL17A The Effect of Interferon-Beta Therapy on T-Helper 17/miR-326 and T-Helper 1/miR-29b-3p Axis in Relapsing-Remitting Multiple Sclerosis Patients Th17 cells and plasma levels of IL-17A decreased in RRMS patients after IFN-β therapy. 34808619 Details
Drug Homo sapiens MS MX1 The Effect of Interferon-Beta Therapy on T-Helper 17/miR-326 and T-Helper 1/miR-29b-3p Axis in Relapsing-Remitting Multiple Sclerosis Patients MxA gene expression was significantly induced upon IFN-β therapy in patients with RRMS. 34808619 Details
Drug Homo sapiens MS BE A pilot trial of low-dose naltrexone in primary progressive multiple sclerosis A significant (P < 0.05) increase of BE concentration(mean ± SEM) was measured either at 3 months(63.4 ± 4.8) and 6 months (76.9 ± 3.3) after the beginning of LDN treatment. 18728058 Details
Drug Homo sapiens MS IL17A Combination treatment of docosahexaenoic acid (DHA) and all-trans-retinoic acid (ATRA) inhibit IL-17 and RORγt gene expression in PBMCs of patients with relapsing-remitting multiple sclerosis The results showed that single treatment of ATRA (p = 0.05) could significantly decrease the expression of IL-17 gene. 29155646 Details
Drug Homo sapiens MS RORC Combination treatment of docosahexaenoic acid (DHA) and all-trans-retinoic acid (ATRA) inhibit IL-17 and RORγt gene expression in PBMCs of patients with relapsing-remitting multiple sclerosis single treatment of ATRA (p = 0.04) and single treatment of DHA (p = 0.05) induced significant inhibition on the expression of RORγt gene. 29155646 Details
Drug Homo sapiens MS IL17A Combination treatment of docosahexaenoic acid (DHA) and all-trans-retinoic acid (ATRA) inhibit IL-17 and RORγt gene expression in PBMCs of patients with relapsing-remitting multiple sclerosis The suppressive effect of combined treatment with ATRA and DHA on IL-17 (p = 0.02) and RORγt (p = 0.01) was also found significant showing that the combined treatments can have additive effects. 29155646 Details
Drug Homo sapiens MS RORC Combination treatment of docosahexaenoic acid (DHA) and all-trans-retinoic acid (ATRA) inhibit IL-17 and RORγt gene expression in PBMCs of patients with relapsing-remitting multiple sclerosis The suppressive effect of combined treatment with ATRA and DHA on IL-17 (p = 0.02) and RORγt (p = 0.01) was also found significant showing that the combined treatments can have additive effects. 29155646 Details
Drug Homo sapiens MS CD86 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS CD40 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS CD83 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS HLA-DRB1 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS RELA Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS RELB Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS CD86 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS CD40 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS CD83 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS HLA-DRB1 Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS RELA Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS RELB Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells MMF treatment induced a less mature phenotype of mDCs with reduced expression of major histocompatibility complex class II (MHC-II), co-stimulatory molecules CD86, CD40, CD83, and expression of nuclear factor κB (NF-κB) subunits RELA and RELB. 29106333 Details
Drug Homo sapiens MS IFNG Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells T cells co-cultured with MMF-treated mDCs showed reduced proliferation with decreased production of interferon gamma (IFN-γ), interleukin-17 (IL-17), and granulocyte-macrophage colony-stimulating factor (GM-CSF) compared to untreated cells. 29106333 Details
Drug Homo sapiens MS IL17A Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells T cells co-cultured with MMF-treated mDCs showed reduced proliferation with decreased production of interferon gamma (IFN-γ), interleukin-17 (IL-17), and granulocyte-macrophage colony-stimulating factor (GM-CSF) compared to untreated cells. 29106333 Details
Drug Homo sapiens MS GM-CSF Monomethyl fumarate treatment impairs maturation of human myeloid dendritic cells and their ability to activate T cells T cells co-cultured with MMF-treated mDCs showed reduced proliferation with decreased production of interferon gamma (IFN-γ), interleukin-17 (IL-17), and granulocyte-macrophage colony-stimulating factor (GM-CSF) compared to untreated cells. 29106333 Details
Drug Homo sapiens (human) N/A HLA-DQA1 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens (human) N/A HLA-DQA1 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens (human) N/A HLA-DQA1 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A CD58 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A CD58 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A CD58 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A HLA-DRB1 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A IL12A A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A IL12A A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A STAT4 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens N/A STAT4 A Simple Computational Approach to Identify Potential Drugs for Multiple Sclerosis and Cognitive Disorders from Expert Curated Resources Interaction between the genes from GWAS and drugs known for multiple sclerosis 35713861 Details
Drug Homo sapiens MS CD21 The role of the Epstein-Barr virus receptor CD21 in multiple sclerosis On -IFN treatment serum sCD21 concentrations further decreased. 22137275 Details
Drug Homo sapiens MS IFNG Interferon-gamma mRNA attenuates its own translation by activating PKR: a molecular basis for the therapeutic effect of interferon-beta in multiple sclerosis We propose that the therapeutic effect of IFN-β in multiple sclerosis may rest, at least in part, on its exquisite ability to induce high levels of PKR in the cell and thereby to limit IFN-γ mRNA translation through this negative feedback loop, blocking the excessive IFN-γ gene expression that precedes clinical attacks. 16474427 Details
Drug Homo sapiens MS KLRB1 Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655 KLRB1 expression decreased significantly (Po0.001) after interferon (IFN)-b treatment. 21610746 Details
Drug Homo sapiens MS PDCD1 Human autoimmunity after lymphocyte depletion is caused by homeostatic T-cell proliferation CD4 expression of the inhibitory receptors [programmed death-1 (PD-1) and lymphocyte activation gene-3 (LAG-3)] was increased 6–9 mo after alemtuzumab. 24282306 Details
Drug Homo sapiens MS LAG3 Human autoimmunity after lymphocyte depletion is caused by homeostatic T-cell proliferation CD4 expression of the inhibitory receptors [programmed death-1 (PD-1) and lymphocyte activation gene-3 (LAG-3)] was increased 6–9 mo after alemtuzumab. 24282306 Details
Drug Homo sapiens MS S1PR1 Fingolimod treatment modulates PPARγ and CD36 gene expression in women with multiple sclerosis No significant differences for other lipids and lipid ratios were found in patient’s post-treatment compared with pre-treatment levels.Regarding apolipoproteins, a significant increase in ApoE was found at 12 months of treatment.At 6 months, patients had higher PPARγ mRNA expression in comparison to the baseline.Higher CD36 gene expression was also observed at 6 months in comparison to baseline . 36590913 Details
Drug Homo sapiens MS MBTPS1 Immunophenotype and Transcriptome Profile of Patients With Multiple Sclerosis Treated With Fingolimod: Setting Up a Model for Prediction of Response in a 2-Year Translational Study In this study, fingolimod significantly reduced the mean ARR in 47.2 and 88.6% at 1 and 2 years, respectively, and the percentage of relapse-free patients was ~75% at the end of the study without differences between the subgroups.In lymphocyte populations, no significant differences between HC and patients were observed before treatment, except for the percentage of LB1 cells composed mostly of CD11b+ cells, which was smaller in patients.We could verify that fingolimod affected practically all lymphocyte populations and subpopulations of B, T, and NK cells.As expected, a reduction of the percentages of CD3+, CD4+, CD20+, CD19+, TCM and TN, memory B (switched and no-switched), regulatory B, NK bright, and cytokine-producing cells (IFN, IL-17, and IL-2) was observed after treatment, with a relative increase in effector memory T (TEM), terminally differentiated effector T (TEMRA), NK, NK dim, NKT, Tregs, nave B, immature B, transitional B, CD5+ B, LB1, and plasmablast cells.Patients who achieved NEDA-3 and NEDA-4 status at 1 year had a significantly higher percentage of NK bright and plasmablast cells and a lower proportion of NK dim and IL-2-producing cells at baseline than NR patients.These patients were significantly more resistant to decreases in percentages of NK bright and LB1 cells and showed a greater decline of CD8 nave T and CD8+ CCR4+ CCR6+ cells than NR patients after 6 months of treatment.Fingolimod exerts powerful transcriptional effects on PBMCs of MS patients.A total of 16,818 filtered probes were used for the differential analyses, resulting in the identification of 3,805 upregulated and 3,741 downregulated genes in response to fingolimod. 30090102 Details
Drug Homo sapiens MS MBTPS1 Identification of a novel mechanism of action of fingolimod (FTY720) on human effector T cell function through TCF-1 upregulation We found that TCF7 expression was decreased in T cells from untreated RRMS patients (T-RRMS) compared with T cells from healthy controls (T-CTL) in both ex vivo isolated and in vitro-activated T cells. To assess whether FTY720 upregulates TCF7 expression in T cells from RRMS patients, we activated T-RRMS cells in the presence or absence of FTY720 and found higher TCF7 expression in FTY720-treated T-RRMS cells .Patients treated with FTY720 showed a significant reduction in circulating CD4 T cells.Activation of T cells in presence of FTY720 showed a less inflammatory phenotype with reduced production of IFN-γ and GZMB. 26714756 Details
Drug Homo sapiens EAE MBP Inhibition of allergic encephalomyelitis in marmosets by vaccination with recombinant vaccinia virus encoding for myelin basic protein The onset of clinical EAE after immunization (pi) was markedly delayed in vT15-vaccinated animals compared to vAbT249-vaccinated controls. Proliferative responses against MBP but not against vaccinia antigens or phytohemagglutinin were suppressed in protected animals. 9394784 Details
Drug Homo sapiens MS ERVW-1 Do Antiretroviral Drugs Protect From Multiple Sclerosis by Inhibiting Expression of MS-Associated Retrovirus? Only Efavirenz (NNRTI) decreased the expression of MSRV/HERV-Wenv at the highest concentration.Similarly, HERV-W/HERV-WEnv protein showed by FC a trend of reduction in the presence of 1 μM of combined drugs. 30740110 Details
Drug Homo sapiens MS IFNB1 Network analysis of transcriptional regulation in response to intramuscular interferon-β-1a multiple sclerosis treatment We identified 121 genes that were significantly up- or downregulated compared with baseline, with stronger changed expression at 1 week after start of therapy. Eleven transcription factor-binding sites (TFBS) are overrepresented in the regulatory regions of these genes, including those of IFN regulatory factors and NF-κB. 20956993 Details
Drug Homo sapiens EAE IL4 Central nervous system delivery of interleukin 4 by a nonreplicative herpes simplex type 1 viral vector ameliorates autoimmune demyelination We found the following in treated mice: (1) delayed EAE onset, (2) a significant decrease in clinical score, (3) a significant decrease in perivascular inflammatory infiltrates and in the number of macrophages infiltrating the CNS parenchyma and the submeningeal spaces, and (4) a reduction in demyelinated areas and axonal loss. 9853527 Details
Drug Homo sapiens EAE NRG1 The neuregulin, glial growth factor 2, diminishes autoimmune demyelination and enhances remyelination in a chronic relapsing model for multiple sclerosis In comparison to control groups, rhGGF2 treatment , consistently resulted in an improved clinical course, a reduction in relapse rate, lessened CNS pathology, and an increase in the amount of CNS remyelination. 9707607 Details
Drug Homo sapiens MS IFNG Interferon beta-lb is effective in relapsing-remitting multiple sclerosis. I. Clinical results of a multicenter, randomized, double-blind, placebo-controlled trial. 1993 [classical article] the identification of a substantial reduction in the relapse rate and new demyelinating lesions on MR. 11902592 Details
Drug Homo sapiens EAE FGF2 Fibroblast growth factor-II gene therapy reverts the clinical course and the pathological signs of chronic experimental autoimmune encephalomyelitis in C57BL/6 mice TH:bFGF-treated mice showed a lower number of T cells and macrophages (butalso of inammatory perivascular inltrates) both in theCNS parenchyma and in the leptomeningeal space and a signicant increase of oligoden-drocyte precursors (platelet derived growth factor-receptor α(PDGFRα)+cells) in areas of demyelination andaxonal loss.A signicant decrease of the per-centage of spinal cord demyelination and axonal loss was also observed in TH:bFGF-treated mice. A signicant increase of proteolipidprotein (PLP)-expressing oligodendrocytes was also measured in TH:bFGF-treated mice .Neuropathological ndings indicate that the sustained disease-ameliorating effect observed after the treatment with the TH:bFGF vector was associated with a signi-cant decrease of the extent of CNS demyelination andaxonal loss. 11509953 Details
Drug Homo sapiens MS CCR6 Fumarates target the metabolic-epigenetic interplay of brain-homing T cells in multiple sclerosis These data collectively define a direct link between fumaric acid ester treatment and hypermethylation of the MIR-21 locus in both CD4 and CD8 T cells and suggest that the immunomodulatory effect of fumaric acid esters in multiple sclerosis is at least in part due to the epigenetic regulation of the brain-homing CCR6+ CD4 and CD8 T cells. 30698680 Details
Drug Homo sapiens MS GAPVD1 An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis The results show that the GAPVD1 expression level and rs2291858 genotype probably affect the response to IFN-β in patients with MS. 33548618 Details
Drug Homo sapiens MS TNF Interferon beta-1b treatment modulates TNFα and IFNγ spontaneous gene expression in MS IFN-1b decreases the spontaneous expression of two proinflammatory cytokines 10371521 Details
Drug Homo sapiens MS IFNG Interferon beta-1b treatment modulates TNFα and IFNγ spontaneous gene expression in MS IFN-1b decreases the spontaneous expression of two proinflammatory cytokines 10371521 Details
Drug Homo sapiens RRMS IFNB1 Quantitative differences in the immunomodulatory effects of Rebif and Avonex in IFN-å°¾ 1a treated multiple sclerosis patients the higher dosed, more frequently administered IFN-å°¾ 1a Rebif when compared to IFN-å°¾ 1a Avonex has more potent immunomodulatory effects 21658727 Details
Drug Homo sapiens MS IFNB1 Endogenous Interferon-å°¾-Inducible Gene Expression and Interferon-å°¾-Treatment Are Associated with Reduced T Cell Responses to Myelin Basic Protein in Multiple Sclerosis spontaneous expression of interferon-å°¾-inducible genes in peripheral blood mononuclear cells from untreated multiple sclerosis patients and treatment with interferon-å°¾ are associated with reduced myelin basic protein-induced T-cell responses. Reduced myelin basic protein-induced CD4+ T-cell autoreactivity in interferon-å°¾-treated multiple sclerosis patients may be mediated by monocyte-derived interleukin-10. 25738751 Details
Drug Homo sapiens MS HOTAIR HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis expression of HOTAIR and ANRIL is probably not affected by VD and/or inflammation in THP-1 cells in vitro 29030863 Details
Drug Homo sapiens MS CDKN2B-AS1 HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis expression of HOTAIR and ANRIL is probably not affected by VD and/or inflammation in THP-1 cells in vitro 29030863 Details
Drug Homo sapiens MS MYC HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis The expression of the VDR and c-Myc genes, two well-known early response genes to VD, were significantly induced after 24 hr of 100 nmol/ml VD exposure 29030863 Details
Drug Homo sapiens MS VDR HOTAIR but not ANRIL long non-coding RNA contributes to the pathogenesis of multiple sclerosis The expression of the VDR and c-Myc genes, two well-known early response genes to VD, were significantly induced after 24 hr of 100 nmol/ml VD exposure 29030863 Details
Drug Homo sapiens MS EOMES Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS CLEC16A Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS IL22RA2 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS PVT1 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS TYK2 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS CD6 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS IRF8 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens MS IL7R Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
Drug Homo sapiens EAE TNF Lipopolysaccharide pretreatment modulates the disease course in experimental autoimmune encephalomyelitis Consistently led to a delayed onset of disease but not to a reduction in disease severity 17055066 Details
Drug Homo sapiens EAE TGFB1 Lipopolysaccharide pretreatment modulates the disease course in experimental autoimmune encephalomyelitis Consistently led to a delayed onset of disease but not to a reduction in disease severity 17055066 Details
Drug Homo sapiens EAE IFNB1 Lipopolysaccharide pretreatment modulates the disease course in experimental autoimmune encephalomyelitis Consistently led to a delayed onset of disease but not to a reduction in disease severity 17055066 Details
Drug Homo sapiens EAE NOS3 Lipopolysaccharide pretreatment modulates the disease course in experimental autoimmune encephalomyelitis Consistently led to a delayed onset of disease but not to a reduction in disease severity 17055066 Details
Drug Homo sapiens EAE TNF Lipopolysaccharide pretreatment modulates the disease course in experimental autoimmune encephalomyelitis Consistently led to a delayed onset of disease but not to a reduction in disease severity 17055066 Details
Drug Homo sapiens MS TNFSF13B BAFF Is a Biological Response Marker to IFN-尾 Treatment in Multiple Sclerosis We conclude BAFF is a good biomarker for IFN-β response 18715196 Details
Drug Homo sapiens EAE IL10 Transgenic Interleukin 10 Prevents Induction of Experimental Autoimmune Encephalomyelitis This study demonstrates that IL-10 can prevent EAE completely if present at appropriate levels and times during disease induction. 10075984 Details
Drug Homo sapiens MS FXN Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia DMF dosed Multiple Sclerosis (MS) patients showed significant increase in FXN expression by ~85% 31158268 Details
Drug Homo sapiens MS IL22 Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet 32103523 Details
Drug Homo sapiens MS AHR Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet 32103523 Details
Drug Homo sapiens MS RORC Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet 32103523 Details
Drug Homo sapiens MS TBX21 Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet 32103523 Details
Drug Homo sapiens MS CCL1 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS CCL2 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS CCL7 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS CXCL10 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS CXCL11 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS CCR1 Enhancement of chemokine expression by interferon beta therapy in patients with multiple sclerosis CCL1, CCL2, CCL7, CXCL10, CXCL11, and CCR1 gene expression was strongly upregulated in interferon beta-treated 19667211 Details
Drug Homo sapiens MS FOXP3 FOXP3, CBLB and ITCH gene expression and cytotoxic T lymphocyte antigen 4 expression on CD4(+) CD25(high) T cells in multiple sclerosis We found that untreated MS patients had lower cell surface expression of cytotoxic T lymphocyte antigen 4 (CTLA-4) on CD4+CD25high T cells and higher intracellular CTLA-4 expression than healthy controls. Cell surface expression of CTLA-4 on CD4+CD25high T cells correlated with expression of FOXP3 mRNA in untreated patients and increased significantly with time from most recent injection in patients treated with IFN-β 23039885 Details
Drug Homo sapiens MS IL1B Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS IL23A Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS TGFB1 Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS IL21 Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS IL12A Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS IL27 Simvastatin inhibits secretion of Th17-polarizing cytokines and antigen presentation by DCs in patients with relapsing remitting multiple sclerosis We report that simvastatin inhibits IL-1β, IL-23, TGF-β, IL-21, IL-12p70, and induces IL-27 secretion from DCs in RRMS patients, providing an inhibitory cytokine milieu for Th17 and Th1-cell differentiation 23076801 Details
Drug Homo sapiens MS IL10 Glycogen synthase kinase-3 controls IL-10 expression in CD4(+) effector T-cell subsets through epigenetic modification of the IL-10 promoter GSK3 inhibition also led to upregulation of IL-10 among Th1, Th2, and Th17 subsets isolated from human blood 25627813 Details
Drug Homo sapiens MS NQO1 Evidence of activation of the Nrf2 pathway in multiple sclerosis patients treated with delayed-release dimethyl fumarate in the Phase 3 DEFINE and CONFIRM studies In DMF-treated patients, a statistically significant induction of NQO1 was observed relative to baseline and compared to placebo 28156185 Details
Drug Homo sapiens MS HMOX1 Evidence of activation of the Nrf2 pathway in multiple sclerosis patients treated with delayed-release dimethyl fumarate in the Phase 3 DEFINE and CONFIRM studies No statistical significance was reached for HO1 induction 28156185 Details
Drug Homo sapiens MS SOCS3 Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Our results demonstrated statin-mediated increases in suppressor of cytokine secretion (SOCS) 3 and suppressor of cytokine secretion 7, which negatively regulate the STAT/JAK signal transduction pathway and IL-6 and IL-23 gene expression in monocytes 18453621 Details
Drug Homo sapiens MS SOCS7 Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Our results demonstrated statin-mediated increases in suppressor of cytokine secretion (SOCS) 3 and suppressor of cytokine secretion 7, which negatively regulate the STAT/JAK signal transduction pathway and IL-6 and IL-23 gene expression in monocytes 18453621 Details
Drug Homo sapiens MS IL6 Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Our results demonstrated statin-mediated increases in suppressor of cytokine secretion (SOCS) 3 and suppressor of cytokine secretion 7, which negatively regulate the STAT/JAK signal transduction pathway and IL-6 and IL-23 gene expression in monocytes 18453621 Details
Drug Homo sapiens MS IL23A Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Our results demonstrated statin-mediated increases in suppressor of cytokine secretion (SOCS) 3 and suppressor of cytokine secretion 7, which negatively regulate the STAT/JAK signal transduction pathway and IL-6 and IL-23 gene expression in monocytes 18453621 Details
Drug Homo sapiens MS IFNG Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Simvastatin also induced IFN-gamma, IL-4, and IL-27 production in monocytes, which together inhibited IL-17 transcription and secretion in CD4(+) T cells 18453621 Details
Drug Homo sapiens MS IL4 Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Simvastatin also induced IFN-gamma, IL-4, and IL-27 production in monocytes, which together inhibited IL-17 transcription and secretion in CD4(+) T cells 18453621 Details
Drug Homo sapiens MS IL27 Simvastatin inhibits IL-17 secretion by targeting multiple IL-17-regulatory cytokines and by inhibiting the expression of IL-17 transcription factor RORC in CD4+ lymphocytes Simvastatin also induced IFN-gamma, IL-4, and IL-27 production in monocytes, which together inhibited IL-17 transcription and secretion in CD4(+) T cells 18453621 Details
Drug Homo sapiens MS IFNG Retinyl Palmitate Supplementation Modulates T-bet and Interferon Gamma Gene Expression in Multiple Sclerosis Patients The results showed that after 6 months of supplementation, expression of IFN-γ and T-bet was significantly decreased 27122150 Details
Drug Homo sapiens MS TBX21 Retinyl Palmitate Supplementation Modulates T-bet and Interferon Gamma Gene Expression in Multiple Sclerosis Patients The results showed that after 6 months of supplementation, expression of IFN-γ and T-bet was significantly decreased 27122150 Details
Drug Homo sapiens MS MIRLET7C Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS MIR125A Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS MIR642A Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS MIR320A Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS MIR320B1 Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS MIR629 Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients We found that the expression level of three miRNAs (let-7c, miR-125a-5p and miR-642) was affected after 6 months of therapy 24852919 Details
Drug Homo sapiens MS IFNAR1 Immune response genes receptors expression and polymorphisms in relation to multiple sclerosis susceptibility and response to INF-β therapy There was a significant decrease of IFNAR1 and IFNAR2 mRNA expression and a significant increase of CCR5 mRNA expression in MS patients compared with the control group 27346865 Details
Drug Homo sapiens MS IFNAR2 Immune response genes receptors expression and polymorphisms in relation to multiple sclerosis susceptibility and response to INF-β therapy There was a significant decrease of IFNAR1 and IFNAR2 mRNA expression and a significant increase of CCR5 mRNA expression in MS patients compared with the control group 27346865 Details
Drug Homo sapiens MS CCR5 Immune response genes receptors expression and polymorphisms in relation to multiple sclerosis susceptibility and response to INF-β therapy There was a significant decrease of IFNAR1 and IFNAR2 mRNA expression and a significant increase of CCR5 mRNA expression in MS patients compared with the control group 27346865 Details
Drug Homo sapiens MS HBD The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters immunomodulatory therapies with fingolimod, DMF, and IFNβ-1α have significantly decreased HBD expression 34504491 Details
Drug Homo sapiens MS HBD The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters immunomodulatory therapies with fingolimod, DMF, and IFNβ-1α have significantly decreased HBD expression 34504491 Details
Drug Homo sapiens MS HBD The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters immunomodulatory therapies with fingolimod, DMF, and IFNβ-1α have significantly decreased HBD expression 34504491 Details
Drug Homo sapiens MS TLR2 Effects of guluronic acid (G2013) on gene expression of TLR2, TLR4, MyD88, TNF-α and CD52 in multiple sclerosis under in vitro conditions Our research indicated that this drug could significantly decrease the gene expression of TLR2, TLR4 and TNF-α compared to untreated group 31594427 Details
Drug Homo sapiens MS TLR4 Effects of guluronic acid (G2013) on gene expression of TLR2, TLR4, MyD88, TNF-α and CD52 in multiple sclerosis under in vitro conditions Our research indicated that this drug could significantly decrease the gene expression of TLR2, TLR4 and TNF-α compared to untreated group 31594427 Details
Drug Homo sapiens MS TNFAIP3 Effects of guluronic acid (G2013) on gene expression of TLR2, TLR4, MyD88, TNF-α and CD52 in multiple sclerosis under in vitro conditions Our research indicated that this drug could significantly decrease the gene expression of TLR2, TLR4 and TNF-α compared to untreated group 31594427 Details
Drug Homo sapiens MS HLA-DRB1 HLA-DRB1*1501 and response to copolymer-1 therapy in relapsing-remitting multiple sclerosis Data have shown a possible positive correlation between presence of DRB1*1501 and response to Cop-1 therapy 11739812 Details
Drug Homo sapiens MS TSC22D3 Methylprednisolone stimulated gene expression (GILZ, MCL-1) and basal cortisol levels in multiple sclerosis patients in relapse are associated with clinical response GILZ and MCL-1 gene expression were significantly higher following first IVMP treatment in responders, compared to non-responders 34593869 Details
Drug Homo sapiens MS MCL1 Methylprednisolone stimulated gene expression (GILZ, MCL-1) and basal cortisol levels in multiple sclerosis patients in relapse are associated with clinical response GILZ and MCL-1 gene expression were significantly higher following first IVMP treatment in responders, compared to non-responders 34593869 Details
Drug Homo sapiens MS GSTP1 Possible Implication of GSTP1 and NQO1 Polymorphisms on Natalizumab Response in Multiple Sclerosis Among our cohort of MS patients, 88.5% responded and 11.5% manifested clinical deterioration after natalizumab treatment 27993870 Details
Drug Homo sapiens MS NQO1 Possible Implication of GSTP1 and NQO1 Polymorphisms on Natalizumab Response in Multiple Sclerosis Among our cohort of MS patients, 88.5% responded and 11.5% manifested clinical deterioration after natalizumab treatment 27993870 Details
Drug Homo sapiens MS RORC Evaluating the Effects of Epigallocatechin-3-Gallate on HIF-1α Protein and RORC Gene Expression in Peripheral Blood Mononuclear Cells in Patients With Multiple Sclerosis However, EGCG did not influence the level of HIF-1α. Our present data has led us to conclude that EGCG could be considered as an anti-inflammatory agent may serve as an achievable therapeutic agent for MS. 35154593 Details
Drug Homo sapiens MS CXCL10 Botanically-Derived etrahydrocannabinol and Cannabidiol,and Their 1:1 Combination, Modulate T oll-like Receptor 3 and 4 Signalling in Immune Cells from People with Multiple Sclerosis THC and CBD (delivered in 1:1 combination at 10 μM) attenuated TLR3-induced CXCL10 and IFN-β protein expression in PBMCs from pwMS and HCs, and this effect was not seen consistently when THC and CBD were delivered alone. 35335126 Details
Drug Homo sapiens MS IFNB1 Botanically-Derived etrahydrocannabinol and Cannabidiol,and Their 1:1 Combination, Modulate T oll-like Receptor 3 and 4 Signalling in Immune Cells from People with Multiple Sclerosis THC and CBD (delivered in 1:1 combination at 10 μM) attenuated TLR3-induced CXCL10 and IFN-β protein expression in PBMCs from pwMS and HCs, and this effect was not seen consistently when THC and CBD were delivered alone. 35335126 Details
Drug Homo sapiens MS TNF Botanically-Derived etrahydrocannabinol and Cannabidiol,and Their 1:1 Combination, Modulate T oll-like Receptor 3 and 4 Signalling in Immune Cells from People with Multiple Sclerosis In terms of LPS, TLR4 activation promoted TNF-α expression in PBMCs from both cohorts, and, interestingly , CBD when delivered alone at 10 μM, and in combination with THC (in 1:1 combination at 10 μM), exacerbated TLR4-induced TNF-α protein expression in PBMCs from pwMS and HCs. 35335126 Details
Drug Homo sapiens RRMS CXCR4 Circulating mesenchymal stem cells, stromal derived factor (SDF)-1 and IP-10 levels increased in clinically active multiple sclerosis patients but not in clinically stable patients treated with beta interfero Circulating MSCs, IP-10 and SDF-1α levels, increased in RRMS patients with clinically active not on DMT and IFN-β therapy reduced circulating MSCs and SDF-1α levels. 31421626 Details
Drug Homo sapiens MS CAMP Computer design, synthesis, and bioactivity analyses of drugs like Fingolimod used in the treatment of Multiple Sclerosis In summary, our data demonstrate that the two novel FTY720 derivatives act as anti-inflammatory ultimately by influencing the gene expression via the cAMP and downstream transcription factor CRE pathway 27913115 Details
Drug Homo sapiens MS CAMP Computer design, synthesis, and bioactivity analyses of drugs like Fingolimod used in the treatment of Multiple Sclerosis In summary, our data demonstrate that the two novel FTY720 derivatives act as anti-inflammatory ultimately by influencing the gene expression via the cAMP and downstream transcription factor CRE pathway 27913115 Details
Drug Homo sapiens SPMS SOCS1 Evaluation of the Effect of Mannuronic Acid as a Novel NSAID with Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1 and TRAF6 Genes and Serum Level of IL-6 and TNF-α in Patients with Multiple Sclerosis The gene expression of SOCS1, SOCS3, TRAF6 and SHIP1 were measured at the baseline and after 6 months of therapy with M2000, by using quantitative real-time PCR method. 33908653 Details
Drug Homo sapiens SPMS SOCS3 Evaluation of the Effect of Mannuronic Acid as a Novel NSAID with Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1 and TRAF6 Genes and Serum Level of IL-6 and TNF-α in Patients with Multiple Sclerosis The gene expression of SOCS1, SOCS3, TRAF6 and SHIP1 were measured at the baseline and after 6 months of therapy with M2000, by using quantitative real-time PCR method. 33908653 Details
Drug Homo sapiens SPMS INPP5D Evaluation of the Effect of Mannuronic Acid as a Novel NSAID with Immunosuppressive Properties on Expression of SOCS1, SOCS3, SHIP1 and TRAF6 Genes and Serum Level of IL-6 and TNF-α in Patients with Multiple Sclerosis The gene expression of SOCS1, SOCS3, TRAF6 and SHIP1 were measured at the baseline and after 6 months of therapy with M2000, by using quantitative real-time PCR method. 33908653 Details
Drug Homo sapiens RRMS FOXP3 Promising effect of rapamycin on multiple sclerosis The expression rate of FOXP3 and GARP genes in regulatory T cells increased after the therapy which could favor the treatment of MS. 30219744 Details
Drug Homo sapiens RRMS LRRC32 Promising effect of rapamycin on multiple sclerosis The expression rate of FOXP3 and GARP genes in regulatory T cells increased after the therapy which could favor the treatment of MS. 30219744 Details
Drug Homo sapiens MS IL4 Expression of interleukin-4 but not of interleukin-10 from a replicative herpes simplex virus type 1 viral vector precludes experimental allergic encephalomyelitis The results indicate that the intracranial infection with IL-4-producing virus (1) precludes EAE symptoms, (2) protects the spinal cord from massive leukocyte infiltrations and (3) prevents demyelination and axonalloss 11420640 Details
Drug Homo sapiens MS IL6 Vitamin D supplementation up-regulates IL-6 and IL-17A gene expression in multiple sclerosis patients Significant up-regulation of IL-6 and IL-17A gene expression was shown under vitamin D treatment. 26188623 Details
Drug Homo sapiens MS IL-17A Vitamin D supplementation up-regulates IL-6 and IL-17A gene expression in multiple sclerosis patients Significant up-regulation of IL-6 and IL-17A gene expression was shown under vitamin D treatment. 26188623 Details
Drug Homo sapiens MS ADA A Single Nucleotide ADA Genetic V ariant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment The selective targeting of the ADA pathway through cladribine tablet therapy could be effective in MS by acting on a pathogenically relevant biological mechanism. 33007809 Details
Drug Homo sapiens MS MIR26A1 Human miR-26a-5p regulates the Glutamate Transporter SLC1A1 (EAAT3) expression. Relevance in multiple sclerosis Afterward, we have evaluated in blood platelets from interferon-β treated Multiple Sclerosis patients the expression of miR-26a and SLC1A1, finding not only their converse expression, but also a responsiveness to interferon-β therapy 28962897 Details
Drug Homo sapiens MS SLC1A1 Human miR-26a-5p regulates the Glutamate Transporter SLC1A1 (EAAT3) expression. Relevance in multiple sclerosis Afterward, we have evaluated in blood platelets from interferon-β treated Multiple Sclerosis patients the expression of miR-26a and SLC1A1, finding not only their converse expression, but also a responsiveness to interferon-β therapy 28962897 Details
Drug Homo sapiens MS CXCL10 Chronic intrathecal infusion of phosphorothioate or phosphodiester antisense oligonucleotides against cytokine responsive gene-2/IP-10 in experimental allergic encephalomyelitis of lewis rat The antisense treatment did not alter inflammation of the spinal cord. While AS-PS oligonucleotides were unsuitable for intrathecal administration, AS-POcrg2 were not toxic and reduced paralysis due to EAE. 8764376 Details
Drug Homo sapiens MS NCOA7 Induction of a Unique Isoform of the NCOA7 Oxidation Resistance Gene by Interferon b-1b We describe a new role for IFN-bs involving a mechanism of action that leads to an increase in resistance to inflammation-mediated oxidative stress. 25330068 Details
Drug Homo sapiens MS ASIC1 Targeting ASIC1 in primary progressive multiple sclerosis: evidence of neuroprotection with amiloride Our results extend evidence of the contribution of ASIC1 to neurodegeneration in multiple sclerosis and suggest that amiloride may exert neuroprotective effects in patients with progressive multiple sclerosis. 23365093 Details
Drug Homo sapiens MS IFNB1 Long-term effect of IFNbeta1b treatment on the spontaneous and induced expression of IL-10 and TGFbeta1 in MS patients Peripheral blood samples were obtained from 16 patients before and after 3, 6 and 12 months of IFNbeta1b treatment. Eleven patients did not have any clinical relapse, whereas the other five each had one clinical exacerbation during the study. 11054484 Details
Drug Homo sapiens MS GPR183 EBI2 Expression and Function: Robust in Memory Lymphocytes and Increased by Natalizumab in Multiple Sclerosis We observed that EBI2 is functionally expressed on memory CD4 T cells and is enhanced under natalizumab treatment. 28052250 Details
Drug Homo sapiens MS CNR1 Regulation of cannabinoid receptor gene expression and endocannabinoid levels in lymphocyte subsets by interferon-β: a longitudinal study in multiple sclerosis patients CB1 expression was elevated in all cell subsets 25169051 Details
Drug Homo sapiens MS CNR2 Regulation of cannabinoid receptor gene expression and endocannabinoid levels in lymphocyte subsets by interferon-β: a longitudinal study in multiple sclerosis patients CB1 expression was elevated in all cell subsets 25169051 Details
Drug Homo sapiens MS PPARG Proinflammatory stimulation and pioglitazone treatment regulate peroxisome proliferator-activated receptor gamma levels in peripheral blood mononuclear cells from healthy controls and multiple sclerosis patients Effect of PIO treatment on PPAR-γDNA-binding activity and NF-kB DNA-binding activity in PBMCs from MS patients 16210596 Details
Drug Homo sapiens MS NFE2L2 Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans We show here that dimethyl fumarate (DMF) dose-dependently induces mitochondrial biogenesis and function dosed to cells in vitro, and also dosed in vivo to mice and humans. 28460056 Details
Drug Homo sapiens MS MS4A1 Antibodies against CD20 (rituximab) for treating multiple sclerosis: US20100233121 Future studies will involve the administration of antibodies against CD20 by gene therapy and studying and characterizing the administration of multiples drugs, in combination rituximab, for treating MS. 21155688 Details
Drug Homo sapiens MS ABCB1 ABC-transporter gene-polymorphisms are potential pharmacogenetic markers for mitoxantrone response in multiple sclerosis In conclusion, SNPs in ABC-transporter genes may serve as pharmacogenetic markers associated with clinical response to MX therapy in multiple sclerosis. 19605531 Details
Drug Homo sapiens MS ABCG2 ABC-transporter gene-polymorphisms are potential pharmacogenetic markers for mitoxantrone response in multiple sclerosis In conclusion, SNPs in ABC-transporter genes may serve as pharmacogenetic markers associated with clinical response to MX therapy in multiple sclerosis. 19605531 Details
Drug Homo sapiens MS IRF5 Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection The combined analysis of available datasets yielded an effect size on MS with odds ratio (OR)MantelHaenszel 1.14 (Po0.002) for the IRF5 polymorphisms rs4728142 and rs3807306 20861862 Details
Drug Homo sapiens MS IRF5 Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis We found that patients with the IRF5 rs2004640-TT and rs47281420-AA genotype exerted a poor pharmacological response to IFNb compared with patients carrying the respective G-alleles (P 0.0006 and P 0.0023, respectively). Moreover, patients with the rs2004640-TT genotype developed more magnetic resonance imaging (MRI)-based T2 lesions during IFNb treatment (P 0.003). Accordingly, an association between MRI-based non-responder status and rs2004640-TT genotype was observed (P 0.010). For the rs4728142-AA genotype a trend of an association with more T2 lesions during IFNb treatment and MRI-based non-responder status was observed (P 0.103 and P 0.154, respectively). 21471993 Details
Drug Homo sapiens MS IFNAR1 The Role of Endogenous IFN-b in the Regulation of Th17 Responses in Patients with Relapsing-Remitting Multiple Sclerosis In vivo recombinant IFN-b–1a treatment induced IFNAR1 and its downstream signaling molecules’ gene expression, suggesting that treatment reconstitutes a deficient endogenous IFN-b regulation of the CD4+ T cells’ pathogenic cytokine production in patients with MS. 24850724 Details
Drug Homo sapiens MS TBX21 Immunoregulatory Effects of Silymarin on Proliferation and Activation of Th1 Cells Isolated from Newly Diagnosed and IFN-1b-Treated MS Patients IFN-γ level at a concentration of 100 μM in comparison with DMSO. Our findings here clearly show that silymarin is an effective regulator for Th1 response in vitro condition. It not only suppresses Th1 proliferating activity but also inhibits T-bet gene expression and IFN-γ production by these cells 30178232 Details
Drug Homo sapiens MS CD40 Critical Role of Tumor Necrosis Factor-a and NF-B in Interferon-+-induced CD40 Expression in Microglia/Macrophages IFN-r treatment leads to the activation of NF-B in a time-dependent manner, which is inhibited in the presence of anti-TNF-β-neutralizing antibody. These results indicate that IFN-+-induced TNF-β production and subsequent NF-B activation are integral parts of the mechanism of IFN-+-induced CD40 expression 11830590 Details
Drug Homo sapiens MS KCNH1 In Vitro Electrocardiographic and Cardiac Ion Channel Effects of (β)-Epigallocatechin-3-Gallate, the Main Catechin of Green Tea ECGC has a number of electrophysiological effects in the heart, and these effects may have clinical significance when multigram doses of this compound are used in human clinical trials or through self-ingestion of large amounts of over-the-counter products enriched in EGCG 20484151 Details
Drug Homo sapiens MS RORC Immunologic and MRI markers of the therapeutic effect of IFN-b-1a in relapsing-remitting MS Findings indicate that IFN-b-1a suppresses Th22 and Th17 cell responses, which were associated with decreased MRI-detectable demyelination 26601116 Details
Drug Homo sapiens chronic neurodegenerative diseases (e.g., Alzheimer′s disease, Parkinson′s disease, multiple sclerosis, amyotrophic lateral sclerosis) AKT1 LXW7 attenuates inflammation via suppressing Akt/nuclear factor kappa B and mitogen-activated protein kinases signaling pathways in lipopolysaccharide-stimulated BV2 microglial cells The anti-inflammatory effects of LXW7 may be associated with the inhibition of microglial activation via Akt/NF-κB and JNK/MAPK signaling pathways by blocking integrin αvβ3 receptor. The present study′s findings suggest that LXW7 has a substantial therapeutic potential for treating inflammatory and neurodegenerative diseases. 31732449 Details
Drug Homo sapiens MS CCL5 Glatiramer acetate inhibition of tumor necrosis factor-a-induced RANTES expression and release from U-251 MG human astrocytic cells glatiramer acetate may exert its therapeutic effect in MS partially through inhibiting NF-kB activation and chemokine production 11389171 Details
Drug Homo sapiens MS IL2 Clofazimine Inhibits Human Kv1.3 Potassium Channel by Perturbing Calcium Oscillation in T Lymphocytes clofazimine is a promising immunomodulatory drug candidate for treating a variety of autoimmune disorders. 19104661 Details
Drug Homo sapiens leukaemia and multiple sclerosis ERVW-1 Silver nanoparticles exhibit size-dependent differential toxicity and induce expression of syncytin-1 in FA-AML1 and MOLT-4 leukaemia cell lines AgNPs induce syncytin-1 expression in leukaemic cell lines 27576335 Details
Drug Homo sapiens MS IL1B Glatiramer acetate blocks the activation of THP-1 cells by interferon-g These results suggest that glatiramer acetate might alter macrophage effector function and suggest that further studies in human monocytes and macrophages are warranted 9548401 Details
Drug Homo sapiens MS CCR5 Natalizumab in the Treatment of Patients with Multiple Sclerosis First Experience Natalizumab treatment alters the percentage of CCR5+ and CD4+ cells in CSF. In view of the excellent temporary clinical results of the therapy, which are yet to be assessed in the course of a longer time period, our results show a possible explanation for the therapeutic success of this drug as well as for the development of progressive multifocal leukoencephalopathy 17911462 Details
Drug Homo sapiens MS IFIH1 The effect of IFN-β 1a on expression of MDA5 and RIG-1 in multiple sclerosis patients Thus, it seems that IFN-β 1a not only decreased pathogenic inflammatory responses but also modulated the expression of RIG-1 to protect the patients from infectious diseases and upregulation of IFN-I in a positive feedback 32311159 Details
Drug Homo sapiens MS RIGI The effect of IFN-β 1a on expression of MDA5 and RIG-1 in multiple sclerosis patients Thus, it seems that IFN-β 1a not only decreased pathogenic inflammatory responses but also modulated the expression of RIG-1 to protect the patients from infectious diseases and upregulation of IFN-I in a positive feedback 32311159 Details
Drug Homo sapiens MS CNTF Analysis of Gene Expression in MOG-Induced Experimental Autoimmune Encephalomyelitis After Treatment With a Novel Brain-Penetrating Antioxidant In conclusion, our current study demonstrates that chronic administration of AD4 preserved the healthy gene expression of MOG-induced EAE mice. 16055951 Details
High throughput Homo sapiens MS NPY, KANK4, NCAN, TKTL1, and ANO4 Gene Expression Profiling of Multiple Sclerosis Pathology Identifies Early Patterns of Demyelination Surrounding Chronic Active Lesions we found regulation of novel genes in and around the rim of chronic active lesions, such as NPY, KANK4, NCAN, TKTL1, and ANO4. 29312322 Details
High throughput Homo sapiens MS CYBB Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients in CD4+ cells, we noticed the opposite situation, with a 1.75-fold significant CYBB increased expression in RR-MS females patients (p = 0.014) and a 0.74-fold decrease (not significant) in MS male cases compared to healthy controls. 30567305 Details
High throughput Homo sapiens MS N/A Retinoid X receptor activation reverses age-related deficiencies in myelin debris phagocytosis and remyelination The FDA-approved RXR agonist bexarotene, when used in concentrations achievable in human subjects, caused a reversion of the gene expression profile in aging human monocytes to a more youthful profile. 26463675 Details
High throughput Homo sapiens MS N/A No differential gene expression for CD4+ T cells of MS patients and healthy controls We did not identify significantly differentially expressed genes in CD4t T cells from multiple sclerosis patients. 31223483 Details
High throughput Homo sapiens MS N/A Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility We identified 233 statistically independent associations with MS susceptibility that are genome-wide significant. 31604244 Details
High throughput Homo sapiens MS N/A Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells We describe MS risk expression quantitative trait loci associations for 129 distinct genes. 32518073 Details
High throughput Homo sapiens MS N/A Identifying CNS-colonizing T cells as potential therapeutic targets to prevent progression of multiple sclerosis We identify a specific pathogenic CD161+/lymphotoxin beta(LTB)+ T cell population that resides in brains of progressive MS patients. 33748804 Details
High throughput Homo sapiens MS N/A Natalizumab exerts direct signaling capacity and supports a pro-inflammatory phenotype in some patients with multiple sclerosis Natalizumab induced a mild upregulation of IL-2, IFN-gamma and IL-17 expression in activated primary human CD4+ T cells propagated ex vivo from healthy donors, consistent with a pro inflammatory costimulatory effect on lymphokine expression. 23284936 Details
High throughput Homo sapiens MS N/A Altered human oligodendrocyte heterogeneity in multiple sclerosis We identified sub-clusters of oligodendroglia in Ctr human WM, some similar to mouse, and defined new markers for these cell states. 30747918 Details
High throughput Homo sapiens MS N/A A lymphocyte-microglia-astrocyte axis in chronic active multiple sclerosis we used MRI-informed single-nucleus RNA sequencing to profile the edge of demyelinated white matter lesions at various stages of inflammation and compared with healthy control white matter. 34497421 Details
High throughput Homo sapiens MS P2RX7, P2RX4, and CAMKK2 Exonic variants of the P2RX7 gene in familial multiple sclerosis We analysed P2RX7, P2RX4, and CAMKK2 gene variants detected by whole-exome sequencing in all living members (n = 127) of 21 families including at least 2 individuals with multiple sclerosis. 36470550 Details
High throughput Homo sapiens MS N/A Vitamin D3 transactivates the zinc and manganese transporter SLC30A10 via the Vitamin D receptor genes implicated in zinc, manganese and iron homeostasis were largely increased by vitamin D3 treatment. 27107558 Details
High throughput Homo sapiens MS N/A The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis The ANZgene Multiple Sclerosis Genetics Consortium genotyped more than 300 000 SNPs for 115 of these samples. Transcription from genes on translational regulation, oxidative phosphorylation, immune synapse and antigen presentation pathways was markedly increased in all forms of MS. 20190274 Details
High throughput Homo sapiens MS XBP1, BHLHE40, CD40LG, DPP4, ITGB1, CYP51A1, LRRD1, YES1 and PASK CSF-resident CD4+ T-cells display a distinct gene expression profile with relevance to immune surveillance and multiple sclerosis Paired comparisons between CD4t T-cells from CSF and blood identified 5156 differentially expressed genes in controls and 4263 differentially expressed in multiple sclerosis patients at false discovery rate <5%. 34761221 Details
High throughput Homo sapiens MS N/A Erythrocyte microRNAs show biomarker potential and implicate multiple sclerosis susceptibility genes Hsa-miR-182-5p and hsa-miR-183-5p were able to discriminate relapsing multiple sclerosis patients from migraine patients and/or healthy controls with 89- 94% accuracy and around 90% specificity. 32508012 Details
High throughput Homo sapiens MS PAH, ATP13A3 Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients we could identify a nonsense variant in the PAH gene ATP13A3. The second patient showed a missense variant of the CYP1B1 gene, which might be linked to PAH predisposition. 31798832 Details
High throughput Homo sapiens MS N/A Molecular network of chromatin immunoprecipitation followed by deep sequencing-based vitamin D receptor target genes Calcitriol-induced upregulation of a small set of ChIP-Seq-based VDR target genes 23401126 Details
High throughput Homo sapiens MS DHCR7, CYP2R1, CYP3A4, CYP27A1, GC, CYP27B1, LRP2, CUBN, DAB2, FCGR, RXR, VDR, CYP24A1, PDIA3, PTH, FGF23, METTL1, METTL21B Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing Some infrequent variants were detected in these families, but no significant difference was observed between patients with MS and/or other AIDs and unaffected family members in the frequency of these variants. 30900415 Details
High throughput Homo sapiens MS N/A Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy The current study was conducted on a randomly selected subset of the IMAGEN participants in whom genome-wide gene expression was assessed (n = 639). All participants and their parents provided written informed assent and consent, respectively. 26220975 Details
High throughput Homo sapiens MS N/A Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy After this quality control, 97 SNPs were available for analysis. 26220975 Details
High throughput Homo sapiens MS N/A Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy After this quality control, 542 345 SNPs on the first chip and 644 283 SNPs on the second chip were available for analysis. 26220975 Details
High throughput Homo sapiens MS ISGF3, STAT1, STAT2, IFN regulatory factor 9, TLR7, RIG-I, IFIH1, IFN-stimulated gene factor 3 Elevated type I interferon-like activity in a subset of multiple sclerosis patients: molecular basis and clinical relevance Before the start of therapy, 11 genes were expressed at significantly higher levels in the group of patients with elevated IFN-like activity (MX1high, n = 7). In comparison, 25 genes were up- or downregulated in response to therapy in the MX1low group (n = 30), including all 11 genes that were elevated in the MX1high group at baseline. 22727118 Details
High throughput Homo sapiens MS ISGF3, STAT1, STAT2, IFN regulatory factor 9, TLR7, RIG-I, IFIH1, IFN-stimulated gene factor 3 Elevated type I interferon-like activity in a subset of multiple sclerosis patients: molecular basis and clinical relevance Before the start of therapy, 11 genes were expressed at significantly higher levels in the group of patients with elevated IFN-like activity (MX1high, n = 7). In comparison, 25 genes were up- or downregulated in response to therapy in the MX1low group (n = 30), including all 11 genes that were elevated in the MX1high group at baseline. 22727118 Details
High throughput Homo sapiens MS ISGF3, STAT1, STAT2, IFN regulatory factor 9, TLR7, RIG-I, IFIH1, IFN-stimulated gene factor 3 Elevated type I interferon-like activity in a subset of multiple sclerosis patients: molecular basis and clinical relevance Before the start of therapy, 11 genes were expressed at significantly higher levels in the group of patients with elevated IFN-like activity (MX1high, n = 7). In comparison, 25 genes were up- or downregulated in response to therapy in the MX1low group (n = 30), including all 11 genes that were elevated in the MX1high group at baseline. 22727118 Details
High throughput Homo sapiens MS CYP27B1, VDDR1 Rare variants in the CYP27B1 gene are associated with multiple sclerosis A rare variant in the CYP27B1 gene causing complete loss of gene function was identified in 1 individual. 22190362 Details
High throughput Homo sapiens MS N/A Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis This analysis identifed 9 rare variants in 6 genes segregating with disease in 13 families. 28337550 Details
High throughput Homo sapiens MS N/A Glatiramer acetate treatment effects on gene expression in monocytes of multiple sclerosis patients More than 400 genes were identified as up-regulated or down regulated in the course of therapy, and we analyzed their biological functions and regulatory interactions. 24134771 Details
High throughput Homo sapiens MS N/A A Risk Score for Predicting Multiple Sclerosis There was a significant difference in the risk score between people with MS and healthy controls (p<0.0005). 27802296 Details
High throughput Homo sapiens MS N/A Recognition of viral and self-antigens by TH1 and TH1/TH17 central memory cells in patients with multiple sclerosis reveals distinct roles in immune surveillance and relapses TH1/TH17 central memory (TH1/TH17CM) cells were selectively increased in peripheral blood of patients with relapsing-remitting MS with a high disease score. 28237728 Details
High throughput Homo sapiens MS N/A Altered human oligodendrocyte heterogeneity in multiple sclerosis We identified several sub-clusters of oligodendroglia in the Ctr human WM, some similar to those in mouse, and defined new markers for these. 30747918 Details
High throughput Homo sapiens MS N/A Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls We found 62 transcripts to be significantly up-regulated in MS patients; the expression of 11 of these genes was counter-regulated by interferon treatment, suggesting partial restoration of a ‘healthy’ gene expression profile. 23748426 Details
High throughput Homo sapiens MS N/A Whole-blood methylation signatures are associated with and accurately classify multiple sclerosis disease severity Females with mild or severe RMS had 1472 DMPs in whole blood (839 hypermethylated, 633 hypomethylated in the severe group). 36585691 Details
High throughput Homo sapiens MS N/A No proinflammatory signature in CD34+ hematopoietic progenitor cells in multiple sclerosis patients None of the miRNA showed statistically significant differential expression levels comparing MS patients and HD mobilized with G-CSF only. 22252466 Details
High throughput Homo sapiens MS N/A A robust type I interferon gene signature from blood RNA defines quantitative but not qualitative differences between three major IFNβ drugs in the treatment of multiple sclerosis Three hundred and fifty one genes were significantly differentially expressed by at least one of the IFNβ drugs. 25721402 Details
High throughput Homo sapiens MS N/A Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls We found 62 transcripts to be significantly up-regulated in MS patients; the expression of 11 of these genes was counter regulated by interferon treatment, suggesting partial restoration of a ‘healthy’ gene expression profile. 23748426 Details
High throughput Homo sapiens MS N/A An investigation of polymorphisms in the 4q1 3.3-21.1 CXC chemokine gene cluster for association with multiple sclerosis in Australians We found no evidence that the CXC chemokine gene cluster is genetically associated with MS. 17262998 Details
High throughput Homo sapiens MS N/A Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis In order to explore this region further, we typed 13 microsatellite markers in the same 449 families originally studied in the individual screens. 14575911 Details
High throughput Homo sapiens MS N/A Genomic regions associated with multiple sclerosis are active in B cells These results confirm the important role of the immune system and specifically B cells in MS and suggest that MS risk variants exert a gene regulatory role. 22396755 Details
High throughput Homo sapiens MS N/A Gene-expression signatures: biomarkers toward diagnosing multiple sclerosis Results, validated in independent cohorts, indicate that gene-expression differences in blood accurately exclude or include a diagnosis of MS and suggest that these approaches may provide clinically useful prediction of MS. 21938015 Details
High throughput Homo sapiens MS N/A Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles Nine of the top hit SNPs identified in the screening phase were selected for replication in accordance with the following criteria. 23472185 Details
High throughput Homo sapiens MS N/A Combining HLA-DR risk alleles and anti-Epstein-Barr virus antibody profiles to stratify multiple sclerosis risk There was no significant difference in mean ages across the high-risk, neutral and low-risk groups. 23886832 Details
High throughput Homo sapiens MS ATG16L2, ATG9A, BCL2, FAS, GAA, HGS, PIK3R1, RAB24, RGS19, ULK1, FOXO1, HTT Gene expression profiles of autophagy-related genes in multiple sclerosis Compared to age- and sex-matched controls, gene expression levels of ATG16L2, ATG9A, BCL2, FAS, GAA, HGS, PIK3R1, RAB24, RGS19, ULK1, FOXO1, HTT were significantly altered. 27125224 Details
High throughput Homo sapiens MS L3MBTL3, MAZ, ERG, and SHMT1 Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation Four of these loci are novel MS susceptibility loci. 27386562 Details
High throughput Homo sapiens MS DLA-DRB1, -DQA1 and, -DQB1 Necrotizing meningoencephalitis of Pug dogs associates with dog leukocyte antigen class II and resembles acute variant forms of multiple sclerosis A genomewide association scan with single tandem repeat (STR) markers showed a single strong association near the dog leukocyte antigen (DLA) complex on CFA12. 20403140 Details
High throughput Homo sapiens MS CD6,IRF8,TNFRSF1A Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P 1.59 β 1011), IRF8 (P 3.73 β 109) and CD6 (P 3.79 β 109). 19525953 Details
High throughput Homo sapiens MS N/A Regulatory genomic regions active in immune cell types explain a large proportion of the genetic risk of multiple sclerosis Three independent SNPs located within SE showed suggestive evidence of association with MS: rs12928822, rs727263 and rs4674923. 24522295 Details
High throughput Homo sapiens MS NAE1 Cell type-specific transcriptomics identifies neddylation as a novel therapeutic target in multiple sclerosis We identified 479 differentially expressed genes in CD4 + T cells, 435 in monocytes, and 54 in CD8 + T cells. 33374005 Details
High throughput Homo sapiens MS N/A The role of the Epstein-Barr virus receptor CD21 in multiple sclerosis While we identified new single nucleotide polymorphism (SNP) and confirmed previously reported SNPs, none of the SNPs was associated with MS. 22137275 Details
High throughput Homo sapiens MS N/A Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis Of total, 1686 variants were found in patients and 1562 variants were found in controls. 35130313 Details
High throughput Homo sapiens MS N/A Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. 21833088 Details
High throughput Homo sapiens MS N/A A genome-wide screen for linkage disequilibrium in Australian HLA-DRB1*1501 positive multiple sclerosis patients Our genome-wide linkage disequilibrium screen, involving 217 HLA-DR15 positive multiple sclerosis patients and 187 unrelated controls from the Australian population, has identified seven genomic regions showing potential association with multiple sclerosis. 14575915 Details
High throughput Mus musculus, Homo sapiens EAE let-7e MicroRNA let-7e is associated with the pathogenesis of experimental autoimmune encephalomyelitis MicroRNA let-7e is associated with the pathogenesis of experimental autoimmune encephalomyelitis 23079871 Details
High throughput Mus musculus, Homo sapiens EAE Lnc2 Lipocalin 2 is a novel immune mediator of experimental autoimmune encephalomyelitis pathogenesis and is modulated in multiple sclerosis This screening identified the gene encoding lipocalin 2 (Lcn2) as being sig nificantly upregulated. 22499213 Details
High throughput Homo sapiens EAE DDT Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way Te results show that the minor allele frequency of rs755622 and expression of DDT are signifcantly increased in males for MS subjects and this minor allele variant can signifcantly upregulate DDT expression for males but not females, which suggests that the regulation of DDT expression level by rs755622 can afect MS progression in males. 30140701 Details
High throughput Homo sapiens EAE DDT Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way Te results show that the minor allele frequency of rs755622 and expression of DDT are signifcantly increased in males for MS subjects and this minor allele variant can signifcantly upregulate DDT expression for males but not females, which suggests that the regulation of DDT expression level by rs755622 can afect MS progression in males. 30140701 Details
High throughput Homo sapiens MS MPO Genetic variation in the myeloperoxidase gene and cognitive impairment in multiple sclerosis Our findings suggest that MPO polymorphism is not a risk factor for cognitive impairment in MS. 16504169 Details
High throughput Homo sapiens MS CBLB(rs9657904) Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis. 20453840 Details
High throughput Homo sapiens MS IL18R1, TPST1, TLR2, and CXCR4 Attention to time-of-day variability improves the reproducibility of gene expression patterns in multiple sclerosis There was no obvious difference in HC and Remission, but Relapse showed differences between the two time points.In those gene sets, 68 genes are significantly changed expression in Relapse at night compared with Relapse at day and Remission.At day, Remission and Relapse showed a similar pattern, and this was distinguished from HC.However, at night, Relapse showed different patterns from both Remission and HC.When we continued the analysis in Relapse,a total of 1,910 DEGs were identified, and 777 and 1,133 genes were significantly up- and down-regulated at night, respectively.A total of 15 significantly enriched gene sets were identified, and 13 gene sets were enriched into two modules, immune responses and transcription/translation .At day, three up-regulated and one down-regulated DEGs were identified in Relapse compared with Remission, meaning similar gene expression profiles between the two groups. More DEGs were identified at night: among a total of 1,337 DEGs, 830 and 507 genes were significantly up- and down-regulated in Relapse, respectively. A total of 21 functionally related gene sets were clustered into two modules, immune responses and transcription/translation.Among them, 13 were related to immune responses, including innate immune response and inflammatory response. 34746708 Details
High throughput Homo sapiens MS N/A TNF plays a crucial role in inflammation by signaling via T cell TNFR2 There were no prominent differences in the percentages of hematopoietic cell subsets between control and MS patients.Comparative heatmap analysis of MS CSF CD4+ T cells identified an inflammatory gene signature characteristic of Th17 cells, such as expression of Rorc, Rora, Irf4, Stat6, Csf2, Il22, Tbx21,Il1r1, Cd3g, Lat, and Il18r1.Analysis of MS CSF also identified robust expression of Tnf, Il1β, and Il23 and very low levels of Il6. 34873037 Details
High throughput Homo sapiens MS N/A Genetic Etiology Shared by Multiple Sclerosis and Ischemic Stroke In MS expression profiles, the transcriptional levels of CAMK2G, CLEC2D, FOXP1, and NUDT14 in the GEO data set GSE21942 and CAMK2G , LBH , SLC2A4RG, and ZGPAT in MS patients were markedly changed compared to controls. 32719717 Details
High throughput Homo sapiens MS N/A Disturbed Glucose Metabolism in Rat Neurons Exposed to Cerebrospinal Fluid Obtained from Multiple Sclerosis Subjects When CGNs were exposed to the CSF of G+/M RMS patients, glycolytic genes such as Gapdh, Pgam and Eno1 showed reduced expression.Furthermore, genes implicated in the TCA cycle, including Pdha1 and Mdh2, were downregulated.Similarly, ATP5b, a gene involved in oxidative phosphorylation, showed decreased expression as compared to neurological controls. When CGNs were exposed to the CSF of G+/M+ RMS patients, we observed strongly reduced gene expression of most of the enzymes involved in glycolysis, including Hk1, Gapdh, Pgk1, Pgam and Eno1;the related TCA cycle enzymes, including Pdha1 and Mdh2;and the mitochondrial electron transport chain enzymes, such as ATP5b, when compared to neurological controls. Our findings revealed that expression of most of the enzymes involved in glycolysis, including Hk1, Gapdh, Eno1 and Pkm, were downregulated when CGNs were exposed to the CSF of spinal MS patients.Likewise, the expression of related TCA cycle enzymes, including Pdha1 and Mdh2 and the mitochondrial electron chain enzymes (ATP5a1 and ATP5b) were strongly reduced. The expression of the glycolytic gene Pgam1 declined when neurons were treated with CSF derived from PPMS patients.Our findings also revealed the downregulation of expression of genes implicated in the TCA cycle, including Pdha1 and Mdh2 and genes of the electron transport chain, such as ATP synthase (both alpha and beta subunits). 29267205 Details
High throughput Homo sapiens MS N/A Distinct gene expression in demyelinated white and grey matter areas of patients with multiple sclerosis We identified 2352 genes which were differentially expressed between the four areas of the leucocortical lesions.The four areas (demyelinated white and grey matter and NAWM and NAGM) differentiated mostly in their expression of myelin (e.g. PLP1, MAG) and oligodendrocyte-related genes (e.g. OPALIN, CNP) which were highest expressed in the NAWM followed by the NAGM and as expected showed low expression in demyelinated white and grey matter.We also observed a clear separation in the expression of neuronal-related genes (e.g. NEFL, NEFH, GABRG2) which was higher in grey matter areas than white matter areas.Other genes differentiating (demyelinating) white and grey matter relate to astrocytic (CD44) microglial/macrophage (i.e. CHI3L2, CHI3L1) and immune responses (IGKC, SOCS3).Also using qPCR, we observed significantly lower mRNA levels of PLP1 indicating demyelination in samples dissected from demyelinated white matter compared with NAWM.This was also observed for demyelinated grey matter (GM) compared with NAGM, but the effect was not strongly significantIn addition, we confirm that RBFOX3 mRNA is significantly lower in white matter areas compared with NAGM.Interestingly, RBFOX3 was also lower in demyelinated compared with NAWM (NAWM versus WML).Though we observed no significant differences in mRNA levels of HLA-DR in demyelinated compared with normal-appearing areas, we did find lower mRNA levels in demyelinated grey matter than in demyelinated white matter.Lastly, GFAP mRNA levels were higher in demyelinated white matter than NAWM and GFAP mRNA levels were higher in demyelinated white matter compared with both grey matter areas. 35282162 Details
High throughput Homo sapiens MS The genes encoding histone-lysine N-methyltransferase, H3 lysine-9 specific 3 (EHMT2), major histocompatibility complex, Class I, A (HLA-C), and negative elongation factor E (RDBP) exhibited significantly differential expressions between cases and controls in both PBMCs and CD34+ HPCs, and the gene encoding myelin oligodendrocyte glycoprotein (MOG) in PBMCs, CD8+ T lymphocytes, and spinal cord, simultaneously. Susceptibility Genes for Multiple Sclerosis Identified in a Gene-Based Genome-Wide Association Study 58 genes were found to be significantly associated with MS in the initial gene-based GWAS.20 were considered as novel MS candidate genes. Of note, five of these novel genes were located outside the HLA region.Among the total 58 identified MS-associated genes, 44 genes with genotype data in the replication sample were subjected to further association tests, which revealed that 35 of them were still significantly associated with MS. Furthermore, 21 of these 58 genes, including 8 novel genes, exhibited differential expression in the differential expression analysis. 26320842 Details
High throughput Homo sapiens MS N/A Analysis of Human Endogenous Retrovirus Expression in Multiple Sclerosis Plaques Twelve clade-specific primer pairs were tested for the GAG and ENV domains.Expression of GAG clade 1A, 3B, and 3C were significantly increased while GAG clade 3A was decreased in the MS samples compared to controls.The pattern of GAG expression for the MS subtypes among each of the clades was similar to that for the MS group as a whole.The magnitude of the significant changes in GAG expression was small with fold-changes only 0.74–1.25.Expression differences between the MS and control groups among the ENV clades studied were also small, with fold-changes less than 1.5. No differences were seen in the expression of ENV clade 1. The expression of ENV clade 2, clades 3A and 3B, and ENV MSRV/HERV-W were all increased in the MS group compared to controls.The pattern of ENV expression for the MS subtypes among each of the clades was similar to that for the MS group as a whole. 28868516 Details
High throughput Homo sapiens MS N/A CD8+ T cell gene expression analysis identifies differentially expressed genes between multiple sclerosis patients and healthy controls 36 genes reached an adjusted p-value below 0.05.Four genes displayed absolute fold-changes above 2, of which two genes had higher expression and two genes had lower expression in the MS patients’ CD8+ T cells.Thirty of the 36 significantly differentially expressed genes were expressed at higher levels in MS patients, significantly more than can be expected by chance. 33343920 Details
High throughput Homo sapiens MS N/A piRNA and miRNA Can Suppress the Expression of Multiple Sclerosis Candidate Genes Of these, CD86, CD226, CLEC16A9, CYP27B1, FOXP3, IL2RA, IL-22RA2, IQGAP1, and MERTK were targets for miRNAs, and FCRL3, HLA-DRB1, MAPK1, MLANA, MYC, TALDO1, and TRIP11 genes were targets for piRNAs. The ADAM17, AHI1, CD6, EOMES, EVI5, IL12B, KIF21B, MGAT5, SOX8, TAGAP, TBX21, TNFRSF1A, ZBTB46, and ZMIZ1 genes were targets for piRNA and miRNA. 36615932 Details
High throughput Homo sapiens MS N/A An Integrated Bioinformatics Analysis of the Potential Regulatory Effects of miR-21 on T-cell Related Target Genes in Multiple Sclerosis Our analysis identified 6332 mRNAs that were significantly differentially expressed between MS and healthy subjects, defined as differentially expressed genes. 34484645 Details
High throughput Homo sapiens MS EFCAB13 Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population EFCAB13 (EF-hand calcium binding domain 13), a gene located on chromosome 17, was the gene with the highest level of association for all but the Reg_01 filter, for which VMP1 and NPEPPS were the top-associated genes according to the C-alpha and WSS tests, respectively.Among these variants, the minor allele of a stop-gain variant showed a significantly higher frequency in MS versus HC in both sequenced cohorts.Among the SNVs with MAF<5%, 27% were missense, 0.9% were non-sense, 15.4% were synonymous, and 21% were located in UTR regions.Out of 17 genes that were nominally associated in the hybrid test in the discovery cohort, two (EFCAB13 and MYC) replicated at a nominal level on the replication cohort.In particular, six disruptive variants in the EFCAB13 gene were called among those already observed in the discovery cohort : the overall impact of these variants was significantly associated with the MS status according to the hybrid test.Five out of the six SNVs jointly called in pool-seq discovery and replication cohorts, were available on array data (stop-gain SNVs rs71377306, rs78865644, rs74969489, rs118004742, and splice acceptor variant 76299620).These SNVs are low-frequency variants, with the exception of rs71377306 and rs118004742.The stop-gain SNV rs118004742 was the only variant showing a consistent pattern of association across the three cohorts since it was more frequent in the MS patients than in the HC.Intriguingly, the rs118004742 variant showed a nominal significant association in the international large-scale meta-analysis performed by IMSGC. 35047017 Details
High throughput Homo sapiens MS N/A A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis In the example, the PREs at the top of Fig. 1c highlight the lead variant defining Region 10 (rs6670198, Chr 1) and those in LD which are likely to affect the expression of FAM213B and TNFRSF14 in all immune cells (B, T and monocytes -M-).For comparison, a simple proximity approach would have just implicated the FAM213B gene, which, while being of biological interest, may describe an incomplete scenario.Another example is provided by region 21, defined by the lead SNP rs6032662 mapping to chromosome 20.While its expression is highest among antigen presenting cells (including those derived from dendritic cells and monocyte/macrophages) its PRE score is low in the M set, indicating that, of the cells studied, MS-associated variants only regulate its expression in B cells.We found that, for all immune cell types analyzed, the above network metrics among GW associated gene products always exceeded those from 10,000 randomly generated, size-matched networks.The three significant networks shared several of their genes, thus constituting a core module.The molecular functions of most of these genes belonged to the binding (36%) and catalytic activity (33%) categories. Other functions were receptor (13%), signal transduction (6%), and structural molecule (10%).A PANTHER analysis revealed these genes belong to JAK/STAT, IFNgamma, interleukin, and integrin signaling pathways, among others.CD28 was only present in the T cell network, ELMO1 in B cells and MERTK in the monocyte/macrophage lineage. 31110181 Details
High throughput Homo sapiens MS A2M-AS1, LOC102724356, AF520793 and DSERG1 Identification of key genes associated with multiple sclerosis based on gene expression data from peripheral blood mononuclear cells Based on the analysis of differential gene expression in distinct MS stages, 349 DEGs overlapped, among which 196 were upregulated and 149 were downregulated.Four genes A2M-AS1, LOC102724356, AF520793 and DSERG1 had different dysregulated directions in different disease stages.Compared to their expression in the healthy controls, they were all downregulated in the RR-MS stage and upregulated in the PP-MS and SP-MS stages, although their expression levels in the distinct stages were different. 32117605 Details
High throughput Homo sapiens MS N/A Identification of key genes associated with multiple sclerosis based on gene expression data from peripheral blood mononuclear cells By querying the online database SCAN, we retrieved a list of SNPs that were significantly associated with the expression of the 345 common DEGs of the MS stages.Then, we searched these SNPs on the MirSNP database and obtained 6857 correlation pairs of these SNPs, miRNAs and genes.There were a total of 1697 miRNAs in these correlation pairs.Then, we contrasted these miRNAs with 149 MS-related miRNAs extracted from the following databases: HMDD v2.0, miR2Disease and MNDR v2.0.Of these 1697 miRNAs, 115 miRNAs were found to be MS-related, and they were mapped to 467 correlation pairs that were composed of 156 DEGs and 321 DEGs’eSNP.Moreover, of these 156 genes, four genes were related to MS by GWAS.Fifteen SNPs were identified to be associated with these 4 genes, which in turn were controlled by MS-specific miRNAs.This strengthens the association of these 15 SNPs with MS.Through querying the GWASdb, we obtained 1010 MS-related SNPs.Combined with the MS-related miRNAs obtained above, we queried the MirSNP database and found that there were 3 MS-specific correlation pairs. 32117605 Details
High throughput Homo sapiens MS N/A Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis Overall, in the patients and healthy individuals, sequence analysis revealed several variants in the ND1, ND3, ND4, ND4L, ND5 and ND6 genes, and no variants were found in the ND2 gene.In the patients with MS, variants were found in different positions of complex I genes;of these, 79 in ND1, 6 in ND3, 15 in NDL4, 119 in ND4, 127 in ND5 and 8 in ND6.In the healthy subjects, variants were also found in different positions of complex I genes;of these 65 in ND1, 32 in ND3, 16 in NDL4, 84 in ND4, 139 in ND5 and 16 in ND6.Moreover, a number of variants in the ND4 and ND5 genes were commonly observed at high frequencies in the patients with MS and the healthy subjects.Sequence analysis revealed a number of variants only in patients with MS, while none of the healthy subjects carried these variants.These variants were found in the ND2, ND3, ND4L, ND4, ND5 and ND6 genes.Of these, 22 were observed in the ND1 gene, 2 in the ND3 gene, 7 in the NDL4 gene, 27 in the ND4 gene, 31 in the ND5 gene and 19 in the ND6 gene . 31798871 Details
High throughput Homo sapiens MS N/A DNA Methylation As an Epigenetic Mechanism in the Development of Multiple Sclerosis Differential methylation of the genes involved in the regulation of autoimmune responses (IL2RA, PTPN6, and SOCS1) and CNS function (PADI2, CDKN2A, RUNX3, NEUROG1, and BDNF) was detected in the whole blood and various leukocyte populations of RRMS patients.An analysis of brain tissues demonstrated hypomethylation of the peptidyl arginine deiminase type 2 (PADI2) gene that is involved in the post-translational modification of the key myelin sheath protein in neurons;namely, the myelin basic protein (MBP).The fact that this gene is also hypomethylated in the peripheral blood mononuclear cells (PBMCs) of RRMS patients may be an indication of the involvement of the regulatory mechanisms, which are similar among different tissues, in gene expression modulation.The only study comparing the methylation levels of HLA-DRB1 and HLA-DRB5 in the whole blood of RRMS and PPMS patients found no significant differences between these groups.The methylation level of LINE-1 family retrotransposons was analyzed in RRMS patients in PBMCs, whole blood, and blood serum: LINE-1 hypermethylation was observed in all cases. 34377555 Details
High throughput Homo sapiens MS Significant differences in gene expression were confirmed for CHIT1, GPNMB, CCL18, KANK4, OLR1, CD68, MSR1, and CXCL16 in comparison I; for NPY, OLR1, CD68, and MSR1 in comparison II; and for GPNMB, OLR1, CD68, and MSR1 in comparison III. Gene Expression Profiling of Multiple Sclerosis Pathology Identifies Early Patterns of Demyelination Surrounding Chronic Active Lesions This resulted in a total of 1,251 significantly regulated genes in comparison I, 587 genes in comparison II, and 3,434 genes in comparison III.Some genes were generally expressed lower (cluster 1) or higher (cluster 2) in all lesion subregions, compared to control tissue.The other four patterns followed the presumed sequence of MS lesion development with a peak of gene expression around chronic active lesions (cluster 3), a peak of gene expression in the rim of chronic active lesions (cluster 4), low gene activity around active rims, but high expression in active rims and (peri)-rims of inactive lesions (cluster 5), and high gene expression in and around inactive lesions, but low activity in active rims (cluster 6). 29312322 Details
High throughput Homo sapiens MS one adult-onset MS gene (PRF1) and two MHC genes (BRD2 and AGER) Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis Only PRF1, located on chromosome 10 and which included six rare or low-frequency coding variants, was associated with POMS.No rare or low-frequency variants within PRKRA were present in our dataset.Of 52 MHC genes harboring rare or low-frequency variants tested in SKAT-O analyses, two were significant at p<0.05/52.These were BRD2 and AGER, which contained 13 and 9 rare/low-frequency variants, respectively.Of the 22 rare/low-frequency coding variants within BRD2 and AGER, 21 were available in the 1000 Genomes CEU reference genome, and none were in LD with HLA-DRB1*1501.For 18 of these variants, the MAF was larger in controls than POMS cases, indicating minor alleles were protective of POMS.For BRD2, SKAT-O analyses of common variants were not significantly associated with POMS. 36755464 Details
High throughput Homo sapiens MS C8G CFH and DSG2 were highly expressed in the CSF and serum. Label-free Quantitative Proteomic Analysis of Cerebrospinal Fluid and Serum in Patients With Relapse-Remitting Multiple Sclerosis Based on these criteria, there were 73 differentially expressed proteins from CSF samples between the RRMS group and ONIND group.In the comparison between the RRMS group and ONIND group from CSF samples, 35 proteins were up-regulated and 38 proteins were down-regulated in the RRMS group. 35571066 Details
High throughput Homo sapiens MS C8G CFH and DSG2 were highly expressed in the CSF and serum. Label-free Quantitative Proteomic Analysis of Cerebrospinal Fluid and Serum in Patients With Relapse-Remitting Multiple Sclerosis Based on these criteria, there were differentially expressed proteins from serum samples.There were 14 up-regulated proteins and eight down-regulated proteins from serum samples. 35571066 Details
High throughput Homo sapiens MS N/A Label-free Quantitative Proteomic Analysis of Cerebrospinal Fluid and Serum in Patients With Relapse-Remitting Multiple Sclerosis A total of 2,759 exon variants were detected in eight RRMS patients.Among them, there were nine genes identical with the serum differential protein: CFH, LTBP1, FN1, CD93, AHSG, PCSK9, C8G, COL18A1, CFI. 35571066 Details
High throughput Homo sapiens MS N/A Label-free Quantitative Proteomic Analysis of Cerebrospinal Fluid and Serum in Patients With Relapse-Remitting Multiple Sclerosis A total of 2,759 exon variants were detected in eight RRMS patients. Among them, nine genes were identical to the CSF differential protein: CFH, C8B, NRCAM, VTN, C7, NID1, KLKB1, C8G, GPX3. 35571066 Details
High throughput Homo sapiens MS N/A IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients Two different patterns were obtained in exon 2 , whereas the study of other regions revealed different patterns.The schematic representation of SSCP patterns in exon 2 and exon 4 showed similarity between the patients and the controls.After sequencing, different patterns were noted in the rs1494558 of the exon 2 region of case 41 and 43.Case 41 was homozygous with a TT genotype, whereas 43 had a CC genotype.In comparison with other samples in the exon 4 region, the rs1494555 of case 34 was heterozygous with AG genotype and of case35 was homozygous with GG genotype.In the promoter, a single SNP with no variation was found in rs71617734.After sequencing the homozygous TT, genotype was observed in our patients’ population.In exon 2, five SNPs were found, rs35967524, rs11567704, rs1494558, rs11567705 and rs969128.One with rs1494558 could change amino acid isoleucine to threonine P.I66T 27. The study of IL-7R α's exon 4 regions revealed two SNPs (rs1494555, s2228141) in the patients.Two sequence variations as P.V138I resulted in valine to isoleucine substitution in rs1494555 27 but a silent nucleotide substitution as P. H 165H had no amino acid alteration in rs2228141. 24250851 Details
High throughput Homo sapiens MS N/A Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family The testing detected a heterozygous variant of uncertain clinical significance in exon 78 of the SYNE1 gene, c.14091G>T (p.Met4697lle).To date, this variant has not been described in the Exome Sequencing Project.In addition, a heterozygous variant of uncertain clinical significance in exon 92 of the SYNE1 gene, c17483C>G (p.Thr5828Arg) was detected.The variant, c.14091G>T (p.Met4697lle), was detected in a heterozygous state in the proband’s mother, while the variant, c17483C>G (p.Thr5828Arg), was detected in a heterozygous state in the proband’s father. 28017257 Details
High throughput Homo sapiens MS N/A Genome-wide Identification and Analysis of Splicing QTLs in Multiple Sclerosis by RNA-Seq Data After quality control based on DP, RMS mapping quality, MAF, HWE, and dbSNP catalog, we obtained 620,339 genotyped variants. In total, we identified 5835 variants affecting 672 AS events (involving 482 genes) of all these 2272 significant differential AS events with a significance level.The cis-sQTLs tend to be distributed in proximity of the gene transcription initiation site, and the intronic variants of them are more capable of regulating AS events.The retained intron AS events are more susceptible to influence of genome variants, and their functions are involved in protein kinase and phosphorylation modification. 34868258 Details
High throughput Homo sapiens MS N/A Identifying characteristic miRNAs-genes and risk pathways of multiple sclerosis based on bioinformatics analysis A total of 21 differentially expressed miRNAs identified in PBMC of MS patients were validated in literature studies.Of the 21genes, 12 miRNAs were up-regulated, 7 miRNAs were down-regulated, and 2 miRNAs were controversial.The miRNA cluster, miR-15a and miR-16-1, were both down-regulated and located at the same position on human chromosome 13 with different regions of 13q14.2.Similarly, miR-140-5p and miR-328 were both down-regulated and located in close proximity on human chromosome 16 with different regions of 16q22.1.In this study, 1637 susceptibility genes were obtained including miRNA 710 target genes and 927 risk genes.In the mapped 69 target genes, VEGFA was closely related with has-miR-145, miR-200c, miR-199a, and miR-21 compared to miR-140-5p, miR-15a, miR-125a, miR-93.MYB was more closely related with miR-155 compared to miR-150, miR-15a, and miR-200c.There was also a close relationship between MYC, miR-145, and miR-155.Of the 641 target genes, SAMD4 was more significantly related with miR-155 compared to miR199a, miR-125a, miR-26a, and miR-146a. PTEN, which was confirmed as a target by most of the experiments, was more tightly related with miR-21 compared to miR-26a, miR-155 and miR-93.ETS1 was more closely associated with miR-155 than with miR-200c and miR-145.RHOA was more related with miR-155 than miR-125a and miR-200c.KRas was significantly associated with miR-200c, miR-155, and miR152.NOTCH1 was tightly associated with miR-200c and miR-326. Among all 710 target genes, the maximum number of genes was derived from miR-155.The number of target genes decreased, for example from miR-145, miR-21, miR146a, miR-200c, miR199a, and miR-26a . 29435179 Details
High throughput Homo sapiens MS N/A Prediction of Single-Nucleotide Polymorphisms within microRNAs Binding Sites of Neuronal Genes Related to Multiple Sclerosis: A Preliminary Study Three hundred and eight SNPs were identified in miRNA binding sites of 3'UTR of 44 genes.Among them, 42 SNPs in 22 genes had miRNA binding sites and miRNA prediction tools suggested 71 putative miRNAs binding sites on these genes.Moreover, in silico analysis predicted 22 MRE-modulating SNPs and 22 MRE-creating SNPs in the 3'UTR of these candidate genes. 33959565 Details
High throughput Homo sapiens MS GRINA, LRG1, and PLEC. Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis Four candidates showed a significant positive association (GRINA, PLEC, PARP10, and LRG1) in the discovery cohort and were then quantified using digital droplet PCR (ddPCR) in a validation cohort.A significant differential expression persisted in the validation cohort for three of the VSE-MS genes: GRINA, LRG1, and PLEC. 36644209 Details
High throughput Homo sapiens MS N/A Integrated analysis of differentially expressed genes and a ceRNA network to identify hub lncRNAs and potential drugs for multiple sclerosis We successfully identified 290 DEmRNAs from the GSE21942 dataset; of these, 190 DEmRNAs were up-regulated and 100 DEmRNAs were down-regulated. 35273684 Details
High throughput Homo sapiens MS N/A Integrated analysis of differentially expressed genes and a ceRNA network to identify hub lncRNAs and potential drugs for multiple sclerosis We also identified 119 DEmiRNAs from the GSE61741 dataset; of these, 57 DEmiRNAs were up-regulated and 62 DEmiRNAs were down-regulated. 35273684 Details
High throughput Homo sapiens MS IL4R, ICAM1, IL1B, NOS2A,NOS3. Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis Evidence of transmission distortion was present in all families for IL4R, ICAM1, IL1B, NOS2A, and NOS3. 15174013 Details
High throughput Homo sapiens MS intronic variant (rs1077667),exonic synonymous variant (rs2291668) Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility After quality control (QC), we identified 112 variants in the TNFSF14 locus.Among these, 6 variants were in the coding region, and 38 had a minor allele frequency.Comparison of the allele frequencies estimated in the pools of patients with MS vs. HCs showed a statistically significant association with MS for 15 variants.The TNFSF14 intronic variant (rs1077667) showed one of the strongest signals. We also identified an exonic synonymous variant (rs2291668) in linkage disequilibrium (LD) with rs1077667 , not present in the genotyping array platforms, with a similar association signal. 34353742 Details
High throughput Homo sapiens MS rs11976061, rs1532090, rs11767658, rs4960555, rs10244476 Association between DPP6 polymorphism and the risk of progressive multiple sclerosis in Northern and Southern Europeans We found significant differences in the allele frequencies of 5 SNPs in the discovery sample. 23069673 Details
High throughput Homo sapiens MS GTF2H4 Variation within DNA repair pathway genes and risk of multiple sclerosis Five SNPs demonstrated some evidence for an association with MS susceptibility.The rs3135388 A variant, which is highly correlated with HLA-DRB1*1501 on chromosome 6p21.32, was significantly associated with MS risk, as expected. A variant (rs1264307) within GTF2H4, a nucleotide excision repair gene on chromosome 6p21.33, was significantly associated with MS risk.The multigenic investigation of the 25 nonsynonymous variants in 18 DNA repair genes did not demonstrate any association with MS susceptibility.Chromosome 6p21 variants (HLA-DRB1*1501 and GTF2H4 (rs1264307)) were very important predictors of MS susceptibility from Random Forests analysis. 20522537 Details
High throughput Homo sapiens MS CDKN2A, FAS, MCJ, MDGI, PGK1, and TP73 Methylation patterns of cell-free plasma DNA in relapsing-remitting multiple sclerosis Fifteen genes were identified as informative when we examined and compared the methylation profiles of RRMS(r) and Control groups.Fourteen differentially methylated gene promoters were identified as informative for the RRMS(e/c) methylation pattern when we examined and compared the cfpDNA profile of RRMS(e) and Control groups using the same experimental approach .In the final comparison, made of RRMS(e) and RRMS(r) groups, five differentially methylated gene promoters were identified as informative of RRMS(e/r) methylation pattern.The patterns of RRMS, identified in comparisons to healthy controls, contained predominantly unique gene promoters: 9 of 15 selected were unique for the RRMS(r/c) pattern and 8 out of 14 were unique for the RRMS(e/c) pattern.The remaining gene promoters (CDKN2A, FAS, MCJ, MDGI, PGK1, and TP73) were informative for comparisons of both disease states with the controls, indicating that RRMS in remission and exacerbation have common identifiable patterns.Additionally, six promoters were specific to only RRMS(r/c) pattern and five promoters specific to only RRMS(e/c) pattern. 20064646 Details
High throughput Homo sapiens MS TNFRSF1A (rs1800693), IRF8 (rs17445836) and CD6 (rs17824933) Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci In the replication data, we found strong evidence for the presence of three previously unreported associations with genome-wide significance in the joint analysis: they are located in the TNFRSF1A (rs1800693), IRF8 (rs17445836) and CD6 (rs17824933) loci. 19525953 Details
High throughput Homo sapiens MS N/A Multi-omic evaluation of metabolic alterations in multiple sclerosis identifies shifts in aromatic amino acid metabolism We identified significant differences in the pathway activity of AAA metabolic pathways between MS and HC in monocyte cell clusters, including both clusters of cells enriched in blood and CSF;PwMS tended to have significantly lower levels of pathway activity in theses cell types. We detected lower levels of AhR network genes in monocytes in PwMS relative to HC.We also found lower levels of expression for HCA3-network genes in PwMS;however, this difference was not statistically significant. 34755135 Details
High throughput Homo sapiens MS All mitochondrial DNA-encoded genes that were included in the arrays (ND1, ND2, ND3, ND5, ND6, COX1, CYTB) were downregulated in initial multiple sclerosis lesions.As for nuclear encoded genes of the respiratory chain,16 showed upregulated expression involving in mitochondrial protein synthesis (MRPL18, 14, 23;MRPS15, 22), adenine nucleotide translocation (SLC25A4).The most pronounced changes were found for inducible (NOS2A) and endothelial (NOS3) nitric oxide synthases and for subunits of the NADPH oxidase complex 2 (CYBA, CYBB and NCF1). NADPH oxidase expression in active multiple sclerosis lesions in relation to oxidative tissue damage and mitochondrial injury Mitochondrial genes Mitochondrial genes were highly enriched in the cohort of top-regulated genes in multiple sclerosis lesions and the most pronounced changes were seen in initial lesion areas. Downregulated expression was seen in 48 genes and upregulated expression in 18 genes.All mitochondrial DNA-encoded genes that were included in the arrays (ND1, ND2, ND3, ND5, ND6, COX1, CYTB) were downregulated in initial multiple sclerosis lesions. A similar pattern was seen for nuclear-encoded genes of the respiratory chain, with marked downregulation of genes coding for complex I, and complex IV. Regarding other mitochondria-related genes with expression changes of >3-fold, again downregulation was seen in the majority, whereas only 16 showed upregulated expression. The latter included genes involved in mitochondrial protein synthesis (MRPL18, 14, 23;MRPS15, 22), adenine nucleotide translocation (SLC25A4), which are induced by oxidative stress and are also involved in oxidative stress defence (UCP3, GRPEL1, TXNRD2, ISCU, AASS, ACADL, DMGDH and ACADS). Most pronounced changes in the expression of genes involved in the production of reactive oxygen and nitrogen species were seen in initial lesions,followed by demyelinated lesion areas and normal-appearing white matter.The most pronounced changes were found for inducible (NOS2A) and endothelial (NOS3) nitric oxide synthases and for subunits of the NADPH oxidase complex 2 (CYBA, CYBB and NCF1).In addition, we also found enhanced expression of the reactive oxygen species-generating enzymes MPO, eosinophil peroxidase (EPX) and lactoperoxidase (LPO), but not for xanthine oxidase (XDH).While the expression of genes involved in the production of reactive oxygen species were highly upregulated, expression of nitric oxide synthase genes was reduced compared with controls. In addition to genes involved in the production of reactive oxygen and nitrogen species, we found changes in the expression of genes involved in free radical detoxification, including glutathione peroxidases and peroxiredoxins. 22366799 Details
High throughput Homo sapiens MS MiR‐140‐5p had the most down‐regulated expression level. MicroRNA let‐7e and miR‐181a‐5p were significantly up-regulated in patients with MS. Inverse correlation of expression of microRNA-140-5p with progression of multiple sclerosis and differentiation of encephalitogenic T helper type 1 cells There were 42 microRNAs with greater than twofold difference in expression, including 33 mature microRNAs and nine pre‐mature microRNAs.On the other hand, using the microRNA array, we also found that some microRNAs were significantly up‐regulated in PBMCs of patients with MS when compared with the controls. 26780721 Details
High throughput Homo sapiens MS N/A Cross-regional homeostatic and reactive glial signatures in multiple sclerosis We observed a highly overlapping transcriptomic response pattern in MS when investigating overlaps in dysregulated gene patterns .ARL17B was the top downregulated transcript among neuroglial subtypes followed by KANSL1.Among other downregulated neuroglial transcripts were several long non-coding RNAs such as LINC00685.Transcripts strongly upregulated across all cell types, such as GAPDH, CLU and PKM, were associated with cell stress and metabolic exhaustion in MS.By smFISH, we found that GRIA1 expression was specific to Bergmann glia in the cerebellum, and CPAMD8, encoding a protease inhibitor, was specific to white matter spinal cord astrocytes.ADGRV1, however, showed high expression levels both in gray and white matter leukocortical astrocytes. Using differential TF activity analysis, we found evidence for an enhanced TF activity of SOX11 in AS-GPC5 and ATF2 in AS-CD44 astrocytes suggesting differential TF activity between gray and white matter astrocytes.We identified 16 differentially expressed genes (DEGs) in subcortical (cerebral) versus 21 DEGs in spinal cord MS-specific white matter astrocytes.We found that ARL17B, HES1 (encoding a basic helix-loop-helix transcription factor) and SRPX2 (encoding a protein relevant for glutamatergic synapse formation) were selectively downregulated in spinal AS-CD44 cells in MS;conversely, known stress marker genes such as HSP90AA1, HSPB1 and FTL appeared to be upregulated in spinal MS astrocytes. 36112223 Details
High throughput Homo sapiens MS chromosome 17p11 Functional effects of the antigen glatiramer acetate are complex and tightly associated with its composition Five affected individuals from four nuclear families were selected for an initial genomic screen with 390 microsatellite markers.Seven shared haplotypes in six different chromosomal regions were observed.After genotyping for these haplotypes with the same and additional markers in 15 MS patients and healthy relatives, some portion of a conserved haplotype spanning 10 cM at 17p11 was found to be shared by 12 of 15 affected individuals.The statistical analysis revealed a significant excess of transmission of alleles of three markers to affected individuals by the transmission/disequilibrium test (TDT).An identical four-marker haplotype was shared by six of 15 patients.Surprisingly, DR-typing revealed no significant sharing of the HLA region.In conclusion, our data suggests a novel susceptibility gene for MS in chromosome 17p11. 12032736 Details
High throughput Homo sapiens MS TNFSF10 Mining gene expression data of multiple sclerosis These 8 selected probes showed significantly differential expression between multiple sclerosis patients and controls, and their log fold change were consistently greater than 2.The KEGG enrichment analysis revealed that the identified genes were closely related to apoptosis and cytokine-cytokine receptor interaction pathways .TNFSF10 were suggested to be potentially associated with multiple sclerosis.In the Gene Ontology enrichment analysis, differentially expressed genes in multiple sclerosis subjects versus controls mainly involved protein kinase cascadse, inactivation of MAPK, regulation of signal transduction and apoptosis.Differentially regulated genes primarily included TNFSF10, GPS1 and TRPS1. 24932510 Details
High throughput Homo sapiens MS N/A Haplotypes within genes of beta-chemokines in 17q11 are associated with multiple sclerosis: a second phase study Markers with P<0.05 are located within CCL genes (one marker between CCL2 and CCL7, and others within CCL5, CCL15, and CCL18), and nonCCL genes (LOC440425, CCT6B, AP2B1, TAF15, FLJ32830, LOC57151).Only three SNP markers # 15 (no known gene close by), 62 (between genes of CCL2 and CCL7), and 116 (telomeric to CCL1) have P<0.05 in both tests.Possible associations with haplotypes are also detected within nonCCL genes including LOC124842, FLJ10458, and CMYA4.The MS-associated haplotypes fall in regions characterized by extensive LD. The haplotype between CCL2 and CCL7 encompasses 95 bp, while the sizes of haplotypes within CCL15 and CCL3 are 154 and 1,200 bp, respectively. 16078049 Details
High throughput Homo sapiens MS N/A Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-up study HLA-A23, A26, and A30 showed a significant decrease in these patients.HLA-A10 and A26 were absent in CDMS patients and A2 and A11 were significantly decreased in CDMS patients. HLA-B44, B16 and B38 alleles were not present in CDMS patients.Regarding DR locus, the frequency of HLA-DRB1*15 and DRB1*04 has been increased in CDMS patients.In DQA region, the most frequent allele in the MS patients was DQA1*0102, which was significantly higher than control group. The frequency of DQA1*0103 was significantly increased in patients group.In DQB1, the frequency of DQB1*0602 increased significantly in the MS patients. 15613143 Details
High throughput Homo sapiens MS miR-21-5p , miR-23a-3p, miR-26b-5p , miR-27a-3p, miR-27b-3p , miR-29b-3p , miR-30e-5p, miR-142-3p, miR-155-5p , miR-221-3p Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells We observed 42 miRNAs at the nominal significance threshold (97 % of these were down-regulated). Of these 42 miRNAs, only 10 met our secondary criteria. 27570566 Details
High throughput Homo sapiens MS Two pathways were significantly over-represented in the overexpressed group: amino acid phosphorylation and response to stimuli. Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis When both CPMS groups were combined and compared to the reference sample, 102 genes were found to be underexpressed and 93 genes overexpressed in CPMS. Of the 102 genes,4 were also underexpressed in the control group compared to the reference group, and 30 of the 93 overexpressed genes were also shared, and these were removed from the CPMS list, leaving 98 and 63 genes dysregulated.If SPMS and PPMS are compared to each other, 25 genes are underexpressed in PPMS, and none is overexpressed. Most of the genes underexpressed in PPMS compared to SPMS were also underexpressed in PPMS compared to the healthy controls, but the differences are greater between PPMS and SPMS. 16075257 Details
High throughput Homo sapiens MS N/A Implication of genetic variants in primary microRNA processing sites in the risk of multiple sclerosis In comparison of the study groups, significant expression differences were found for 7 canonical miRNAs and 6 isomiRs.These differences were also significant in the sensitivity analysis.The differentially expressed mature miRNAs originate from 6 pri-miRNAs: hsa-mir-26a-2, hsa-mir-199a-1, hsa-mir-4304, hsa-mir-4423, hsa-mir-4464 and hsa-mir-4492.Compared with the healthy controls, the levels of hsa-miR-26a-2-3p were significantly lower in RRMS patients treated with alemtuzumab.In contrast, the levels of hsa-miR-199a-5p and -3p were higher in alemtuzumab-treated cases than in the controls.Significantly higher levels of hsa-miR-4304-5p were measured in RRMS patients receiving cladribine in comparison to the healthy group and all other RRMS groups. In the B-cell samples of the cladribine-treated patient group, we also found, on average, the highest levels of hsa-miR-4464-5p and a 1 nt shifted isomiR of hsa-miR-4492-3p.The average expression of hsa-miR-4423-3p|{isomiR}|48_67| was highest in patients with PPMS. 35561450 Details
High throughput Homo sapiens MS N/A Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus Across all loci 7 SNPs and one haplotype displayed nominal evidence of association with susceptibility to MS in addition to the previously reported SNP associations for each locus.No newly-typed SNPs or inferred haplotypes in either RPL5 or CD58 showed evidence of association with risk of MS. Of 41 SNPs passing quality control filters (QC) in the KIAA0350 gene, five SNPs and one haplotype showed nominal evidence of association with disease susceptibility, however, the originally reported association with rs6498169 remained the strongest.No SNPs remained associated after adjustment for rs6498169 genotype, although two weakly correlated SNP alleles (rs6498146A and rs9937607G) still displayed positive odds ratios and a trend towards association with disease susceptibility.The SNPs, rs6498146 and rs9937607, were correlated with each in controls.Of the 42 SNPs passing QC in the IL2RA gene, rs12722605 and rs791589 were nominally associated with susceptibility to MS. Both rs12722605 and rs791589 were only weakly correlated with rs2104286 and with each other, and the association with rs791589 remained significant after adjustment for rs2104286 genotype, although this finding would not survive correction for multiple comparisons.After adjustment for rs2104286, rs12722605 still displayed a positive trend towards association with risk of MS, but this was not significant. 19375175 Details
High throughput Homo sapiens MS N/A Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling Genome-wide association analysis of these 45 traits identified eight independent genome-wide significant pQTLs.Three of the pQTLs regulated IFN receptor levels, whereas five pQTLs controlled IFN receptor responses.There was no overlap between IFN-α and IFN-γ induced pQTLs and the majority of pQTLs were cell-type specific. 33104735 Details
High throughput Homo sapiens MS MiR-150-5p and miR-155-5p were upregulated, miR-15a-3p, -34c-5p, and -297 were downregulated in patients with MS. CSF microRNAs discriminate MS activity and share similarity to other neuroinflammatory disorders In total, 64 miRNAs were amplified from individual CSF samples. Eighteen miRNAs were differentially expressed in at least 1 subgroup. MiR-150-5p and miR-155-5p were upregulated, whereas miR-15a-3p, -34c-5p, and -297 were downregulated in patients with MS, irrespective of disease activity in comparison to SCs. Most miRNAs (n = 8) were upregulated in patients with relapsing MS compared with patients with remitting MS or SCs, except miR-124-5p, which was downregulated compared with SCs.Three miRNAs (miR-20a-5p, -33a-3p, and -214-3p) were downregulated in patients with remitting MS compared with patients with relapsing MS and/or SCs, whereas miR-149-3p was upregulated. 32033981 Details
High throughput Homo sapiens MS miR-15a-3p, -24-3p, -126-3p, -146a-5p, and -181c-5p CSF microRNAs discriminate MS activity and share similarity to other neuroinflammatory disorders Relative quantification of 6 miRNAs reached statistical significance. Five miRNAs (miR-15a-3p, -24-3p, -126-3p, -146a-5p, and -181c-5p) were downregulated in both relapsing and remitting MS compared with HC, whereas miR-214-3p was downregulated in relapsing MS compared with HC only. 32033981 Details
High throughput Homo sapiens MS miR-34a-5p CSF microRNAs discriminate MS activity and share similarity to other neuroinflammatory disorders Only 1 miRNA, miR-34a-5p, was significantly downregulated in relapsing MS compared with remitting MS. 32033981 Details
High throughput Homo sapiens MS CYP24A1, FCRL1, RGS1, and TRAF3 Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes Four rare variants-enriched regions within CYP24A1, FCRL1, RGS1, and TRAF3 were identified as significantly associated with MS. Functional studies revealed significantly decreased regulator of G protein signaling 1 (RGS1) gene expression levels in peripheral blood mononuclear cells from MS patients with RGS1 rare variants compared to noncarriers, whereas no significant differences in gene expression were observed for CYP24A1, FCRL1,and TRAF3 between rare variants carriers and noncarriers.Immunophenotyping showed significant decrease in RGS1 expression in peripheral blood B lymphocytes from MS patients with RGS1 rare variants relative to noncarriers.Lastly, peripheral blood mononuclear cell from MS patients carrying RGS1 rare variants showed significantly lower induction of RGS1 gene expression by interferon-β compared to MS patients lacking RGS1 variants. 32196808 Details
High throughput Homo sapiens MS AC007278.2, IFNG-AS1-001, IFNG-AS1-003 LncRNAs associated with multiple sclerosis expressed in the Th1 cell lineage LncRNAs encoded by AC007278.2 and IFNG-AS1-001 showed significantly higher expression in relapsing Phase MS patients whereas IFNG-AS1-003 was elevated in patients in the remitting phase compared with relapsing patients. 31066039 Details
High throughput Homo sapiens MS rs441349, rs1054283 and rs2587156 Genetic Variation in the IL7RA/IL7 Pathway Increases Multiple Sclerosis Susceptibility The results using the Armitage trend test found 578/7,637 nominally significant SNP results.There are seventeen SNPs of particular interest, representing five gene regions.We selected 31 SNPs including the seventeen top SNPs and fourteen additional SNPs with suggestive p-values from these five gene regions. Following QC analyses, 24/31 SNPs were analyzed in the independent validation dataset of 2,111 cases and 2,037 controls. The SNPs on chromosome 16 flanking SOCS1 were the most significant;the most significant p-value was with SNP rs441349.IL7 also had significant SNPs for SNPs rs1054283 and rs2587156.The HLA stratified data was more interesting.There were 2,584/6,870 individuals with at least one risk allele (“A” allele for rs3135388). The Armitage trend test for those individuals without a risk allele showed IL7 had more significant p-values than in the overall dataset. 20112030 Details
High throughput Homo sapiens MS N/A Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia A peak of association represented by the three adjacent DRB1, -DQA1 and -DQB1 loci was detected in the class II region.Two additional less significant areas of association were detected, respectively, in the centromeric side of the class II region at the DPB1 locus and, telomeric of the classically defined class I loci, at the D6S1683 microsatellite.Within the main peak of association, DRB1 and DQB1 contribute to the disease association independently of each other whereas DQA1 had no detectable primary genetic effects.We evaluated the haplotype distribution at the region showing the strongest association and found five DQB1-DRB1 haplotypes positively associated with MS in Sardinia. 11741834 Details
High throughput Homo sapiens MS CD58, FCRL3 Two genetic variants explain the association of European ancestry with multiple sclerosis risk in African-Americans We confirm that African-Americans who inherit segments of the genome of European ancestry at a chromosome 1 locus are at increased risk for MS, although the signal weakens when adding an additional 406 cases, reflecting heterogeneity in the two sets of cases. These variants tag a MS susceptibility haplotype associated with decreased CD58 gene expression as well as another haplotype near the FCRL3 gene.Controlling for all other genetic and environmental factors, the two variants predict a 1.44-fold higher rate of MS in European-Americans compared to African-Americans. 33037294 Details
High throughput Homo sapiens MS N/A Whole genome analysis of the action of interferon-beta Following the culture of peripheral blood mononuclear cells from MS relapsing-remitting patients for 24 hs with IFNbeta1a, the expression of 868 genes was modified: 545 increased (including CXCL11, CCL8, INDO, IFI27, CFB, CXCL10 and IFIT1) and 323 diminished (including RBP7, SEPT5, RNF8, ADORA2B and FOS). 19473595 Details
High throughput Homo sapiens MS This signature revealed down regulation of cell death related genes (NFKB1, NFKBIA, BIRC2 and 3), heat shock proteins (HSPA1A, HSPA5, HSPA1B), and signal transduction (IL8, GRO3, CNA15). Autoimmunity gene expression portrait: specific signature that intersects or differentiates between multiple sclerosis and systemic lupus erythematosus The specific MS gene expression signature included 1031 unique genes (1105 probes); 594 genes (653 transcripts) down-expressed and 437 genes (442 probes) over-expressed. The top score genes included 14 genes (14 probes) over-expressed and 51 genes (55 probes) down-expressed.This signature revealed down regulation of cell death related genes (NFKB1, NFKBIA, BIRC2 and 3), heat shock proteins (HSPA1A, HSPA5, HSPA1B), and signal transduction (IL8, GRO3, CNA15).On the other hand over-expressed genes within the signature were associated with inflammation (CD24, IL15, DEFA3, NFATC3, and PTGS2), antigen recognition (CD1D), and adhesion (ITGA6, ITGAL, and LY75). 15373920 Details
High throughput Homo sapiens MS Lgals3 Multiple sclerosis patient-derived CSF induces transcriptional changes in proliferating oligodendrocyte progenitors A striking observation was the detection of a more highly branched phenotype only in OPC exposed to the CSF from PPMS patients.Quantification of the number of primary branches revealed a statistically significant increase only in cells treated with the CSF from PPMS patients, but not from RRMS or other neurological controls. Exposure to CSF from PPMS uniquely induced branching of cultured progenitors and related transcriptional changes, including upregulation of the adhesion molecule GALECTIN-3/Lgals3, which was also detected at the protein level in brain specimens from PPMS patients.A principal component analysis revealed the transcripts in treated OPC clustered according to patient diagnosis, with the CSF from RRMS patients inducing the most dramatic changes.The overlap of genes that were up-regulated in OPC after treatment for 24 hours with the CSF form PPMS or RRMS , revealed 29.6% of genes up-regulated by the CSF of both groups compared to controls and 32.1% down-regulated.The RRMS specimens in general induced a much more robust transcriptional response compared to the PPMS.Gene ontology (GO) analysis of the genes up-regulated by exposure to the CSF of either RRMS or PPMS revealed genes involved in protein transport, actin filament-based processes, protein complex disassembly and nucleo-cytoplasmic transport.Down-regulated gene ontology categories included response to DNA damage stimulus, protein modification by small protein conjugation or removal, mitochondrial organization, and oxidative phosphorylation. 25948622 Details
High throughput Homo sapiens MS One exhibited increased abundances in the MS samples than in the controls (Sutterella sp.), whereas seven exhibited decreased abundances (Erysipelatoclostridium sp., Gemella morbillorum, Granulicatella, Granulicatella adiacens, Gabonia, Gabonia massiliensis, and Carnobacteriaceae). A Metagenome-Wide Association Study of Gut Microbiome in Patients With Multiple Sclerosis Revealed Novel Disease Pathology Our MWAS assessed a total of 712 clades (10 phyla [L2], 20 classes [L3], 31 orders [L4], 63 families [L5], 166 genera [L6], and 422 species [L7]). Case-control phylogenetic association tests using a generalized linear regression model identified eight clades which conferred case-control discrepancy in their composition levels,most of which were related to the immune system.Of these, one exhibited increased abundances in the MS samples than in the controls (Sutterella sp.), whereas seven exhibited decreased abundances (Erysipelatoclostridium sp., Gemella morbillorum, Granulicatella, Granulicatella adiacens, Gabonia, Gabonia massiliensis, and Carnobacteriaceae). We confirmed that the abundances of the clades in MS were less than those in controls across most generations.IL-12 was one of the MS-associated genes found in MS GWAS .Gene association tests found an increased abundance of one putative dehydrogenase gene (Clo1100_2356) and one ABC transporter related gene (Mahau_1952) in the MS metagenome compared with controls.Molecular pathway analysis of the microbiome gene case-control comparisons identified enrichment of multiple Gene Ontology terms, with the most significant enrichment on cell outer membrane. No apparent discrepancies in alpha or beta diversities of metagenome were found between MS cases and controls. 33363050 Details
High throughput Homo sapiens MS N/A Burden of risk variants correlates with phenotype of multiple sclerosis The distribution of MS risk was significantly higher in MS cases compared to controls, either when MS risk calculation was based on all risk variants combined or when non-HLA and HLA risk variants were regarded separately.An increased genetic risk is observed for MS patients, including subsets such as oligoclonal band-negative and primary progressive MS patients, compared to controls.Within the patient group, a stronger association between HLA risk variants and the presence of oligoclonal bands, an increased immunoglobulin G (IgG) index and female gender was apparent.Results suggest an association between a higher accumulation of non-HLA risk variants and increased relapse rate as well as shorter relapse-free intervals after disease onset.Whereas the cumulative burden of non-HLA risk variants appears to be reflected in the relapses of MS patients, the HLA region influences intrathecal IgG levels. 25948629 Details
High throughput Homo sapiens MS N/A Nanocurcumin restores aberrant miRNA expression profile in multiple sclerosis, randomized, double-blind, placebo-controlled trial We analyzed the expression of 27 miRNAs from blood samples of RRMS patients before receiving either nanocurcumin or placebo capsules compared miRNA expression levels intra-individually after receiving nanocurcumin or placebo capsules for at least 6 months of continuous treatment.The analysis revealed that 13 miRNAs are upregulated in PBMCs derived from patients with RRMS.In line with this, the expression of miR-16, miR-17-5p, miR-17-92, miR-27, miR-29b, miR-126, miR-128, miR-155, miR-326, miR-550, and miR-340 was significantly increased in CD4+ T cells and the expression of miR-132 was significantly enhanced in B cells of untreated RRMS patients compared with healthy controls.Aberrant expression of miR-16, miR-17-92, miR-27, miR-29b, miR-126, miR-128, miR-132, miR-155, miR-326, miR-550, and miR-340 is restored in nanocurcumin - treated MS patients.The expression of miR-17-5p did not show any significant difference between untreated and nanocurcumin-treated groups.In contrast, the expression of miR-16, miR-17-92, miR-27, miR-29b, miR-126, miR-128, miR-132, miR-155, miR-326, miR-550, and miR-340 was significantly decreased in nanocurcumin-treated RRMS patients compared with placebo group.Our gene expression analysis also demonstrated that 16 miRNAs are downregulated in PBMCs derived from patients with RRMS.Consistent with this, the expression of miR-15a, miR-16-1, miR-18a, miR-20b, miR-25, miR-106b, miR-363, miR-31, miR-181c, miR-374a and miR-150 was significantly decreased in CD4+ T cells, while the expression of miR-16, miR-19b, miR-320a, miR-340, and miR-599 indicated a significant reduction in B cells of untreated RRMS patients compared with healthy controls.The expression of miR-16-1, miR-18a, miR-20b, miR-25, miR-374a and miR-599 did not exhibit significant difference between untreated and nanocurcumin-treated groups.In contrast, the expression of miR-15a, miR-16, miR-19b, , miR-106b, miR-320a, miR-363, miR-31, miR-181c, miR-150, miR-340, and miR-599 was significantly elevated in nanocurcumin-treated RRMS patients. 29194612 Details
High throughput Homo sapiens MS Cluster two was significantly enriched in cytokine receptor binding, cytokine activity, and lymphocyte proliferation, while cluster four was enriched in cellular proliferation, differentiation, and IL-17 production. Functional inflammatory profiles distinguish myelin-reactive T cells from patients with multiple sclerosis Differential expression analysis revealed 197 differentially expressed genes that were unique to MS tetramer positive samples. 25972006 Details
High throughput Homo sapiens MS N/A Functional inflammatory profiles distinguish myelin-reactive T cells from patients with multiple sclerosis GSEA revealed 305 enriched gene sets in MS tetramer-positive samples relative to tetramer-negative samples and 135 enriched gene sets in the healthy control tetramer-positive samples relative to tetramer-negative samples.Of those gene, 19 were enriched in both MS and healthy control tetramer-positive samples.There are also 112 pathways that were unique to the MS tetramer-positive samples, including one emphasizing cytokine signaling, chemokine signaling, the IL-23 pathway and AP1 pathways, and several gene sets specific to autoimmune diseases.In contrast, of 27 gene sets enriched in the tetramer-positive samples from healthy controls, the top-scoring sets related to immune cell function, antigen presentation, CTLA4 inhibitory signaling, and interferon signaling. 25972006 Details
High throughput Homo sapiens MS The most significant gene expression changes were found in HLA-DRB5, DEFA1B and HLA-DRB1, while FCRLA was the only under-expressed gene. Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation Gene expression profiling of 24 treatment-nave RRMS patients compared to healthy controls revealed 50 genes with increased expression in the RRMS patients, and one gene with decreased expression. 23401127 Details
High throughput Homo sapiens MS A significant number of these differentially expressed genes are involved in immunity and defence, IFN mediated immunity, and T-cell mediated immunity. Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation There were 106 genes differentially expressed (20 down-regulated and 86 up-regulated) between RRMS patients receiving IFN-beta therapy and healthy controls.A significant number of these differentially expressed genes are involved in immunity and defence, IFN mediated immunity, and T-cell mediated immunity. 23401127 Details
High throughput Homo sapiens MS PLAU and SERPINB2, both involved in the plasminogen activation cascade show higher expression in patients receiving no treatment compared to those receiving IFN-beta.A number of genes known to be induced by IFNs, such as OASI and IFIs showed increased expression in patients treated with IFN-beta. Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation A total of 63 genes were differentially expressed between RRMS patients receiving IFN-beta therapy and RRMS patients receiving no therapy (41 genes up-regulated and 22 genes down-regulated in patients receiving treatment).A large proportion of these genes are involved in immune system/ response or signaling. 23401127 Details
High throughput Homo sapiens MS These 11 transcripts belong to the BCL-2 family (BAD, BCLG, BIK, BOK, PUMA), the death receptor pathway (FADD, TNFRSF25), the NF-κB family (IKBKE, NFKBID) and the inflammasome complex (CASP1, PYCARD). Analysis of apoptosis-related genes in patients with clinically isolated syndrome and their association with conversion to multiple sclerosis Expression analysis of apoptosis-related genes in RRMS patients and healthy controls revealed that 88 out of 93 transcripts were detectable in both MS patients and controls.41 out of these genes were differentially expressed in RRMS patients in comparison to healthy controls, and 11 out of 44 transcripts showed a 1.4-fold or greater change in expression.These 11 transcripts belong to the BCL-2 family (BAD, BCLG, BIK, BOK, PUMA), the death receptor pathway (FADD, TNFRSF25), the NF-κB family (IKBKE, NFKBID) and the inflammasome complex (CASP1, PYCARD).In comparison to the controls, the following ratios were increased in RRMS patients: BAD/BCLXL, PUMA/BCLXL,BAD/BCL2, BIK/BCL2 and PUMA/BCL2, suggesting the increased potential for apoptosis in mononuclear cells. 25773154 Details
High throughput Homo sapiens MS FCRL1, FCRL2, FCRL5 , and CD22 MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes Microarray analysis revealed 57 differentially expressed genes between patients with high and low neurodegeneration. 26604134 Details
High throughput Homo sapiens MS N/A The metabolic potential of the paediatric-onset multiple sclerosis gut microbiome There were no significant differences between MS participants and controls in the predicted relative abundances of any gut microbiome-derived metabolite, whereas the metabolism of specific metabolites differed.Compared to controls, patients exhibited a greater potential to generate ten metabolites involved in methane or glycerophospholipid metabolism from archaea.MS participants also had a greater potential to generate metabolites involved in capsule polysaccharide or inner-core lipopolysaccharide synthesis. MS participants also had a greater potential to metabolize an amino-sugar involved in undecaprenylphosphate-alpha-L-Ara4N biosynthesis and metabolize D-mannitol.Metabolites involved in carbohydrate metabolism had lower turnover scores for the MS participants versus controls. Neither alpha- nor beta-diversity of the carbohydrate-active enzymes (CAZymes) differed between the MS participants and controls. However, differences in the relative abundance of specific CAZyme families were observed. Of 265 (sub)families examined, 24 were lower in patients versus controls. These included glycoside hydrolases subfamilies and various carbohydrate-binding module (CBM) families that assist GH13 catalysis.In addition, GH14 (betaamylase) was also lower for the MS participants, as were two beta-glucanase related families. 35500534 Details
High throughput Homo sapiens MS miR-337-3p and -665 from 14q32.2 cluster and miR-370c, -380, -494, -654-3p, -300, -539, -668, and -323b-5p- Male-specific coordinated changes in expression of miRNA genes, but not other genes within the DLK1-DIO3 locus in multiple sclerosis RNA-seq identified 62 miRNAs encoded by 54 genes located in two clusters within the locus.43 miRNAs were characterized by higher expression in male RRMS patients compared to healthy men with nominal significance, including 26 miRNAs that passed the statistical threshold after correction for multiple testing.We identified that all selected miRNAs - miR-337-3p and -665 from 14q32.2 cluster and miR-370c, -380, -494, -654-3p, -300, -539, -668, and -323b-5p - were upregulated in MS men, but not women when compared to controls, regardless of conflicting RNA-seq data. We performed the expression analysis of non-miRNA genes within the locus.The genes encoding proteins (DLK1, DIO3, RTL1), long non-coding RNAs (MEG3, MEG8, and MEG9) and small nucleolar RNAs (SNORD112, SNORD113-5, SNORD113-7, SNORD114-3, SNORD114-8, SNORD114-19) were not dysregulated in RRMS both in men and women. 35714798 Details
High throughput Homo sapiens MS N/A Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis We identified a region of high significance on chromosome 19q13.43, with a genome-wide significant localisation signal. 23472070 Details
High throughput Homo sapiens MS N/A Two new HLA-B alleles, B*4422 and B*4704, identified in a study of families with autoimmunity The study has led to the identification of two new alleles (HLA-B*4422 and HLA-B*4704). 12135438 Details
High throughput Homo sapiens MS N/A The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population The HLA-DRB1 was sequenced in 86 cases, HLA-DQB1 and DPB1 in 85, HLA-A in 64, HLA-B in 65 and HLA-C in 85.HLA-DRB1: We found 52 different alleles in MS and 44 in controls.The most common allele in MS patients and controls was DRB1*15:01, which was present in a higher percentage of individuals in the MS group. This was followed by *03:01 and *07:01 alleles.DRB1*15:01, *11:03 and *04:06 alleles.HLA-DQB1: We found 35 different alleles in MS and 17 in controls. Of those, 19 alleles occurred only in MS and only 1 control did not have the same allele that MS. The most common allele was DQB1*06:02 in MS, followed by *02:01 and *03:02.The DQB1*02:03, *03:69 and *04:03 alleles were statistically significant, whereas in the controls DQB1 *03:01 and *02:02 alleles were more frequent.HLA-DPB1: We found 30 different alleles in MS and 22 in controls.In MS, 14 alleles occurred only in this group and 6 controls did not have similar MS allele.The most common alleles in the MS group and controls were *04:01, *02:01 and *04:02.HLA-A: We found 42 different alleles in MS and 32 in controls. In MS, 22 alleles occurred only in this group and 12 controls did not have similar allele in MS. The most common alleles in the MS group were *03:01 and *24:02.HLA-B: We found 60 different alleles in MS and 76 in controls.In MS group, 25 alleles did not occurred in the controls and 42 of the controls did not have similar allele in MS group.The most common allele in the MS group and controls were *07:02, *51:01 and *35:01.11 of the controls did not have the same MS allele. The most common alleles in the MS group and controls were *04:01,*07:02 and *08:02.HLA-C: We found 39 different alleles in MS and 30 in controls.In MS group, 20 alleles did not occurred in controls and 11 of the controls did not have the same MS allele.The most common alleles in the MS group and controls were *04:01, *07:02 and *08:02. 27556370 Details
High throughput Homo sapiens MS N/A High Resolution Haplotype Analyses of Classical HLA Genes in Families With Multiple Sclerosis Highlights the Role of HLA-DP Alleles in Disease Susceptibility The HLA-DRB5*01:01:01~HLA-DRB1*15:01:01:01 haplotype block was significantly associated with susceptibility to MS in this dataset.A second risk allele, DPB1*104:01, independent from the haplotype bearing DRB1*15:01 was newly identified.The allele DRB1*01:01:01 showed significant protection.Two DQB1 alleles, DQB1*03:01 and DQB1*03:0, defined at two-field level also showed protective effects.The HLA class I block, A*02:01:01:01~C*03:04:01:01~B*40:01:02 and the alleles B*27:05 showed moderately protective effects independently from each other and from the class II associated factors. 34211458 Details
High throughput Homo sapiens MS N/A Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis Each of the 56 mutations was found in only one sample. Three potential mutations were seen in each of CD6, CLEC16A, DAB2 and SDK1. 24740369 Details
High throughput Homo sapiens MS RPL 13A;ITGA5 Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis From the 1185 genes present on the array, 47 were significantly differentially expressed between AL and NAWM .Among them, 17 had increased and 30 decreased expression in AL tissue. 29596844 Details
High throughput Homo sapiens MS P2RX7;STAT6 Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis This comparison between RL and NAWM revealed 57 genes to be significantly differentially expressed. Expression of 28 genes was increased, whereas the expression of 29 genes was reduced in RL tissue. 29596844 Details
High throughput Homo sapiens MS ATP5F1;MARCKS Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis Reflecting the cellular changes, the most significantly differentially expressed genes were found between IdL and NAWM, where 50 genes were increased and 110 genes were decreased in IdL. 29596844 Details
High throughput Homo sapiens MS CXCL 13;VIPR1 Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis Only 3 genes were significantly increased and 6 genes significantly decreased in AL tissue in comparison to RL. 29596844 Details
High throughput Homo sapiens MS CXCL 13;ZMYM3 Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis Comparison between AL and IdL revealed 74 significantly differentially expressed genes, of which 55 were increased and 19 decreased, in AL tissue. 29596844 Details
High throughput Homo sapiens MS DAXX;ZYZM3 Molecular pathology of Multiple Sclerosis lesions reveals a heterogeneous expression pattern of genes involved in oligodendrogliogenesis 33 genes were found to be significantly differentially expressed between RL and IdL tissues.Expression of 23 genes was increased and 10 decreased in RL tissue. 29596844 Details
High throughput Homo sapiens MS GGTLC1;DDAH2 Disease-specific molecular events in cortical multiple sclerosis lesions Analysing our microarray data, we found 109 genes significantly up- or downregulated in multiple sclerosis in comparison with all other disease and control cases. 23687122 Details
High throughput Homo sapiens MS HLA-DRB1*15:01 Class II HLA interactions modulate genetic risk for multiple sclerosis Risk was dominated by the well-characterized HLA DRB1*15:01 allele, which was partially dominant. We also found largely recessive risk for HLA-DRB1*03:01, additive risk effects from HLA-DRB1*13:03 and HLA-DRB1*08:01, and a dominant risk effect from HLA-DQB1*03:02.Protective alleles included HLA-A*02:01, along with HLA-B*44:02, HLA-B*38:01 and HLA-B*55:01, which, except for HLA-B*55:01, have been reported previously as being associated, although HLA-B*38:01 was not reported at genome-wide significance. We found departure, albeit weak, from additivity at HLA-A*02:01, which is important to include for analyses of interactions. 26343388 Details
High throughput Homo sapiens MS N/A A survey of endogenous retrovirus (ERV) sequences in the vicinity of multiple sclerosis (MS)-associated single nucleotide polymorphisms (SNPs) We scanned these regions for putative endogenous retrovirus sequences with large open reading frames (ORFs). We observed that more retrovirus-related putative ORFs exist in the relatively close vicinity of SNP marker indices in multiple sclerosis compared to control SNPs. We found very high homologies to HERV-K, HCML-ARV, XMRV, Galidia ERV, HERV-H/env62 and XMRV-like mouse endogenous retrovirus mERV-XL. The associated genes (CYP27B1, CD6, CD58, MPV17L2, IL12RB1, CXCR5, PTGER4, TAGAP, TYK2, ICAM3, CD86, GALC, GPR65 as well as the HLA DRB1*1501) are mainly involved in the immune system, but also in vitamin D regulation. The most frequently detected ERV sequences are related to the multiple sclerosis-associated retrovirus, the human immunodeficiency virus 1, HERV-K, and the Simian foamy virus. Our data shows that there is a relation between MS associated SNPs and the number of retroviral elements compared to control. 27169423 Details
High throughput Homo sapiens MS N/A Differences in exon expression and alternatively spliced genes in blood of multiple sclerosis compared to healthy control subjects 120 exons were differentially expressed between medication-free multiple sclerosis (MS) subjects in remission and healthy control subjects (HS). 20920832 Details
High throughput Homo sapiens MS N/A Differences in exon expression and alternatively spliced genes in blood of multiple sclerosis compared to healthy control subjects The full-length (whole transcript) gene level analysis showed 99 differentially expressed transcripts in MS compared to HS with 55 upregulated and 44 down-regulated genes.There were 19 transcripts that were significant at p≤0.01 and none at p≤0.001. 20920832 Details
High throughput Homo sapiens MS N/A Blood transcriptional signatures of multiple sclerosis: unique gene expression of disease activity We identified a statistically significant transcriptional signature of 1,109 genes in PBMCs from 26 MS patients, irrespective of disease activation state or immunomodulatory treatment. This signature contains genes that implicate underlying processes involved in MS pathogenesis including T-cell activation and expansion, inflammation, and apoptosis. 14991819 Details
High throughput Homo sapiens MS N/A Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study In our group of 927MS patients, 7 subjects carried GLA genetic variants (gene location: NM_000169.2).Five patients carried variants previously described having controversial impact on FD phenotype, and the analysis of exome database revealed that they are not rare among healthy individuals. One patient showed a new variant never described before, and another one carried a late-onset FD cardiac variant. 32234567 Details
High throughput Homo sapiens MS PPARG;RND3 Molecular network analysis of T-cell transcriptome suggests aberrant regulation of gene expression by NF-kappaB as a biomarker for relapse of multiple sclerosis Among 1,258 genes on the microarray, 43 genes were expressed differentially in peripheral blood CD3 + T cells of 6 RRMS patients at the peak of acute relapse and at the point of complete remission.Among 43 differentially expressed genes (DEG), 18 genes were upregulated, whereas 25 genes were down-regulated at the time of relapse. 18776589 Details
High throughput Homo sapiens MS TMEM232 promoter , ZBTB16 enhancer DNA methylation signatures of monozygotic twins clinically discordant for multiple sclerosis We identify 7 MS-associated differentially methylated positions (DMPs). 31064978 Details
High throughput Homo sapiens MS N/A T cell gene expression profiling identifies distinct subgroups of Japanese multiple sclerosis patients Among 1258 cDNAs on the array, 286 genes were expressed differentially between 72 untreated Japanese MS patients and 22 age- and sex-matched CN subjects. 16564577 Details
High throughput Homo sapiens MS rs6677309 (CD58) , rs12927355 (CLEC16A) An ImmunoChip study of multiple sclerosis risk in African Americans In our African American screen, results passing stringent quality control were available for 96 of these SNPs,have been established as risk variants in multiple sclerosis. 25818868 Details
High throughput Homo sapiens MS HLA-DRB1*09 ,N037 An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene Sequence analysis identified 93 SNPs that suffice to characterize the differences between the 13 main allelic types of HLA-DRB1.For the second SNP (nucleotide position (N) 016), HLA-DRB1*04 (T) is uniquely different from all other groups (C), while the third SNP (N037) separates HLA-DRB1*01, *15, and *16 (A) from all other alleles (G). HLA-DRB1*09 is the only allelic group characterized by a single allele at each of the 93 SNPs – all other allelotypes have genetic variability, often with more than two alleles observed within each allelic group at a given SNP. The region between N256 and N308 is characterized by various allelotypes with three or four potential nucleotides per SNP.Empirical evidence based on sequence information suggests that MS susceptibility arises primarily from amino acid 13. 19193207 Details
High throughput Homo sapiens MS CD27,ZAP70;HSP70,CKS2 Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease We identified more than a thousand pairs of genes that could distinguish MS samples from controls. 12915464 Details
High throughput Homo sapiens MS DNASE1L1;BTEB1 Multiple sclerosis as a generalized CNS disease--comparative microarray analysis of normal appearing white matter and lesions in secondary progressive MS The 129 genes in lesions, and 47 genes in NAWM(MS) were differentially expressed. 15223248 Details
High throughput Homo sapiens MS N/A miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS MIGWAS identified 39 candidate biomarker miRNA‐target gene pairs comprised of 16 unique miRNAs and 37 unique genes. 31211169 Details
High throughput Homo sapiens MS N/A Investigation of differentially expressed genes and dysregulated pathways involved in multiple sclerosis This analysis yielded a list of 58,866 DEGs (29,433 for activeinflammation stage and 29,433 for late-subsided Stage). 35871892 Details
High throughput Homo sapiens MS rs12923849,rs7206912,rs6498168,rs9934231,rs6498169,rs8060411 Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus Our screening phase comprised a 57 SNP panel.Six highly associated SNPs emerged. 21179112 Details
High throughput Homo sapiens MS The top 5 up-regulated genes were NRCAM, CERKL, FASLG, ID3, and CNTNAP2, whereas the top 5 down-regulated genes were CAMP, S100P, HBD, C1QB, and HBG1. Identification of ferroptosis-related gene signatures associated with multiple sclerosis using weighted gene co-expression network analysis According to the sample information and data matrix of GSE136411, 3017 DEGs (1602 up-regulated and 1415 down-regulated) were identified. 36595760 Details
High throughput Homo sapiens MS Duffy chemokine receptor, interferon regulatory factor-2, and tumor necrosis factor alpha receptor-2 Analysis of gene expression in mutiple sclerosis lesions using cDNA microarrays Sixty-two differentially expressed genes were identified. 10482277 Details
High throughput Homo sapiens MS IL-17B Serum molecular biomarkers in neuromyelitis optica and multiple sclerosis 12 cytokines were differentially expressed between HCs and MS patients.Serological IL-17B is significantly upregulated in MS patients compared to HCs, and could be a key biomarker of MS. 35172264 Details
High throughput Homo sapiens MS N/A Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility Of these, 26,395 SNPs reached genome-wide significance and another 576,204 SNPs had at least nominal evidence of association. 31604244 Details
High throughput Homo sapiens MS N/A DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis We first identified seven DMRs that associated with MS after adjustment for confounders , all of which mapped to the HLA class II region.The methylation levels within these seven DMRs were correlated in MS cases and healthy controls, forming genetically controlled methylation clusters known as GeMes17. We found that these DMRs were under the genetic control of 202 unique SNPs, with 875 significant SNP-DMR pairs, also known as methylation Quantitative Trait Loci (meQTLs).Out of the 202 SNPs, 52 were significantly associated with MS status, and all were located in the HLA region. Among the 52 SNPs, 50 were significant after causal analysis using CIT including all seven DMRs. 29921915 Details
High throughput Homo sapiens MS N/A Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis No methylation or sequence variation of the MHC2TA promoter pIV was found. 18606010 Details
High throughput Homo sapiens,mice MS,EAE encoding for TNFa and YWHAH,heat shock protein(HSP70, HSPA1A),encoding for protein serine kinase H1 (PSKH1),IKBKE, TDE1, ITGB2, CSF-1 and DNa-se1L1 Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosis A total of 2170 genes were found differentially expressed among the 14 expression studies in humans and 1334 genes among the 5 reports in mice.We found significant differences in the density distribution of DEGs on 16 human chromosomes and on 11 mouse chromosomes.we found substantial clustering of DEG in both human and mouse expression data and several clusters of DEG located in syntenic regions overlapped precisely.We next searched for areas where DEG were located either inside or within 5 Mb of a human or mouse"consensus genetic susceptibility region". A total of 108 genes were found in such regions in humans and 79 in mice. Interestingly, a sizable proportion of these genes is located in the HLA region. This observation was even more pronounced in mice.In an attempt to integrate our findings across human and mice, we used the HomoloGene database to search for homologous transcripts and identified a total of 152 genes that were differentially expressed in both mouse and humans and there were 27 clustered human DEG intersecting with mouse DEG.We identified the fraction of those clustered DEG that were overlapping with susceptibility regions. There were 4 such genes in humans alone (SH2D2A, IKBKE, HLA-DMA, and UPP1), 0 in mice alone, and 3 in both (HLA-DOA, GABBR1, and TNFa). 16129498 Details
High throughput Homo sapiens,mice MS CYP24A1 (MIM 126065), CYP27B1 (MIM 609506), SYK (MIM 600085), RAD21L1, CXCR5 (MIM 601613), PVR (MIM 173850), ODF3B, and RGS14 (MIM 602513) Profile of differential promoter activity by nucleotide substitution at GWAS signals for multiple sclerosis We obtained 192 GWAS signals resulting from 18 GWAS for susceptibility to MS. The GWAS signals for SYK and CXCR5 were not linked to any other promoter variants. The expression levels of SYK, ODF3B, and RGS14 were significantly affected by the variants of the GWAS signals.Marginal associations were observed between PVR expression and its promoter variants. The risk alleles resulted from GWAS studies increased the expression of SYK, RGS14, and PVR but decreased the expression of ODF2B.Differences in luciferase activity were found with reporter constructs for all genes, with the exception of CXCR5 . In particular, the expression of CYP27B1-H1, SYK-A, and RAD21L1-T was greater than 2-fold higher than that of CYP27B1-H2, SYK-G, and RAD21L1-C, respectively.Luciferase activity differed significantly with only a single nucleotide substitution for reporter constructs of all 7 genes. This study was successful in identifying functional sequence variants in 7 promoter regions. Six SNPs associated with MS were causal variants (CYP24A1, CYP27B1, SYK, RAD21L1, PVR, and ODF3B), and 4 of the 6 SNPs shared functions with their linked SNPs (CYP24A1, CYP27B1, PVR, and ODF3B). One SNP was linked to a causal SNP (RGS14). The transcriptional regulations of the variants were supported by the eQTL analysis. The promoter variants were identified as eQTLs for the expression of the genes encoding SYK, ODF3B, RGS14, and PVR in lymphoblastoid cells. We found differential transcriptional activity in promoter regions of the CYP24A1, CYP27B1, SYK, RAD21L1, PVR, ODF3B, and RGS14 genes. 25526461 Details
High throughput Homo sapiens MS 592 Deciphering crucial genes in multiple sclerosis pathogenesis and drug repurposing: A systems biology approach This study identified 592 differentially expressed genes (DEGs) associated with MS disease using GEO, pro颅 teomics, and text-mining datasets. 37 DEGs were found to be important by topographical network studies, and 6 were identified as the most significant for MS pathophysiology 36966969 Details
High throughput Homo sapiens MS N/A Gene network reveals LASP1, TUBA1C, and S100A6 are likely playing regulatory roles in multiple sclerosis In terms of these parameters, three genes (LASP1, TUBA1C, and S100A6) showed a significant correlation with MS disease. 36970516 Details
High throughput Homo sapiens MS N/A Irrespective of Plaque Activity, Multiple Sclerosis Brain Periplaques Exhibit Alterations of Myelin Genes and a TGF-Beta Signature we found that, irrespective of plaque activity, brain periplaques exhibited a TGF-beta molecular signature, an increased expression of TGFB2 (transforming growth factor beta 2) and a decreased expression of the oligodendrocyte genes NDRG1 (N-Myc downstream regulated 1) and MAG (myelin-associated glycoprotein). 36499320 Details
High throughput Homo sapiens MS 6 Integrated Analysis and Identification of CSFDerived Risk miRNAs and Pivotal Genes in Multiple Sclerosis miR-150, miR-328, and miR-34c-5p were determined to be risk miRNAs via the regulation of the pivotal risk genes MAPK1, AKT1, and VEGFA. 35819635 Details
High throughput Homo sapiens MS 18 Analysis of microRNA and Gene Expression Profiles in Multiple Sclerosis: Integrating Interaction Data to Uncover Regulatory Mechanisms We identified 18 differentially expressed (DE) miRNAs and 128 DE genes that may contribute to the regulatory alterations behind MS. 27694855 Details
High throughput Homo sapiens MS N/A Pregnancy does not modify the risk ofMS in genetically susceptible women Evidence for interaction between pregnancy exposure and established genetic risk variants, including the strongly associated HLA-DRB1*15:01 allele and a weighted genetic risk score, was not observed. Results from sensitivity analyses were consistent with observed results. 33037103 Details
High throughput Homo sapiens MS 577 The Role of B Cells in the Early Onset of the First Demyelinating Event of Acute Optic Neuritis Significantly differentiating gene expression signatures consisting of 467, 55, and 55 MIGs respective of CD19臘, CD14臘, and CD4臘 cells, were identified between ON and healthy subjects. No MIGs were detected for CD8臘 cells. 25593026 Details
High throughput Homo sapiens MS 28 Identification and functional analysis of specific MS risk miRNAs and their target genes 28 MS-related miRNAs were extracted. MiR-30e, miR-93, miR-155 were identified as the most crucial miRNAs through targeting hub genes: PIK3CA, PIK3R1, PIK3R2 and MAPK8. Seven immune pathways were screened out according to KEGG pathway analysis. Six transcriptomic datasets were used to evaluate results, and PIK3CA was differentially expressed in MS patients compared with healthy donors. 32179484 Details
High throughput Homo sapiens MS HLA-DRB1 Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15 Analysis of gray matter lesion size revealed a significant increase of cortical lesion size in cases with high HLA-DRB1 expression. 31882398 Details
High throughput Homo sapiens MS p.R183C,7q11.22-q11.23 Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family Suggestive evidence for linkage was obtained to 7q11.22-q11.23. In WES data, a rare missense variant p.R183C in FKBP6 was identified that segregated with the disease in this family. The minor allele frequency was higher in an independent cohort of MS patients than in healthy controls (1.27% vs 0.95%), but not significant (odds ratio (OR) = 1.33 (95% confidence interval (CI): 0.8–2.4), p = 0.31). 29873607 Details
High throughput Homo sapiens MS We identified nine areas showing different thickness between cases and controls (regions of interest, ROI) (eight of them were negatively correlated with Kurtzke’s expanded disability status scale, EDSS) and conducted genome-wide association studies (GWAS) in 464 and 211 cases available from the two data sets. No marker exceeded genome-wide significance in the discovery cohort. Genetic associations with brain cortical thickness in multiple sclerosis We report here for the first time gene sets associated with cortical thinning of MS. These genes are potentially correlated with disability of MS. 25684059 Details
High throughput Homo sapiens MS 21 MicroRNA regulate immune pathways in T-cells in multiple sclerosis (MS) We identified 2,452 differentially expressed genes and 21 differentially expressed microRNA between MS patients and controls 23895517 Details
High throughput Homo sapiens MS 2452 MicroRNA regulate immune pathways in T-cells in multiple sclerosis (MS) We identified 2,452 differentially expressed genes and 21 differentially expressed microRNA between MS patients and controls 23895517 Details
High throughput Homo sapiens MS 2241 Baseline Gene Expression Signatures in Monocytes from Multiple Sclerosis Patients Treated with Interferon-beta A total of 2241 genes were differentially expressed with pvalues, 23637780 Details
High throughput Homo sapiens MS 38+8 Comprehensive analysis of microRNA profiles in multiple sclerosis including next-generation sequencing In patients with CIS/RRMS, NGS and microarray analysis identified 38 and eight significantly deregulated miRNAs, respectively. Three of these miRNAs were found to be significantly up- (hsa-miR-16-2-3p) or downregulated (hsamiR-20a-5p, hsa-miR-7-1-3p) by both methods. Another five of the miRNAs significantly deregulated in the NGS screen showed the same direction of regulation in the microarray analysis. qRT-PCR confirmed the direction of regulation for all eight and was significant for three miRNAs. 23836875 Details
High throughput Homo sapiens MS N/A Evidence from genome wide association studies implicates reduced control of Epstein-Barr virus infection in multiple sclerosis susceptibility These LCLeQTL MS risk SNP:gene pairs (47 identified) were over-represented in genes dysregulated between B and LCLs (p <1.53 ×104), and as target loci of the EBV transcription factor EBNA2 (p <3.17 × 1016). Overall genetic burden of LCLeQTLs was associated with some EBV phenotypes but not others. Stimulation of the CD40 pathway by CD40L reduced LCL proliferation (p < 0.001), dependent on CD40 and TRAF3 MS risk genotypes. Both CD40 and TRAF3 risk SNPs are in binding sites for the EBV transcription factor EBNA2, with expression of each correlated with EBNA2 expression dependent on genotype. 31039804 Details
High throughput Homo sapiens MS 1219 Genome wide differences of gene expression associated with HLA-DRB1 genotype in multiple sclerosis: A pilot study there were 1219 differentially expressed exons (pb0.01, |fold change (FC)|>1.2) that differed between HLA-DRB1*1501 Positive multiple sclerosis subjects (MSP) compared to HLA-DRB1*1501 negative multiple sclerosis subjects (MSN) 23477965 Details
High throughput Homo sapiens MS GPC5 rs9523762 Replication of top markers of a genome-wide association study in multiple sclerosis in Spain the GPC5 gene being a genuine susceptibility factor for MS 20944657 Details
High throughput Homo sapiens MS EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis: the impact of genome-wide association studies identified disease risk loci The biallelic combinations including EOMES, CLEC16A, IL22RA2, PVT1, TYK2, CD6, IL7RA and IRF8 genes were associated with response to GA with increased significance level 29095108 Details
High throughput Homo sapiens MS D2S408 (2q36), D6S271 (6p21), D6S344 (6p25), D7S1818 (7p12) and D16S420 (16p12) A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis Nine markers showed nominally significant results in both screens independently. Five of these markers—D2S408 (2q36), D6S271 (6p21), D6S344 (6p25), D7S1818 (7p12) and D16S420 (16p12)—remained nominally significant in both studies after conservative refining analysis 14575928 Details
High throughput Homo sapiens MS 10 A whole genome screen for association with multiple sclerosis in Portuguese patients Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association. 14575926 Details
High throughput Homo sapiens MS 87 A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers lated controls (pooled DNA); 4666 analysed markers could be included in the resulting association map, from which 87 revealed significant differences between MS cases and controls. 12215840 Details
High throughput Homo sapiens MS 5079 Integrative analysis of Multiple Sclerosis using a systems biology approach From 5079 statistically significant molecules, correlation analysis within groups identified a panel of 16 high-confidence genes unique to the nave MS phenotype, whereas the “Treated” group reflected a common pattern associated with autoimmune disease. 29618802 Details
High throughput Homo sapiens MS 5079 Integrative analysis of Multiple Sclerosis using a systems biology approach From 5079 statistically significant molecules, correlation analysis within groups identified a panel of 16 high-confidence genes unique to the nave MS phenotype, whereas the “Treated” group reflected a common pattern associated with autoimmune disease. 29618802 Details
High throughput Homo sapiens MS 812 A comprehensive in silico analysis of multiple sclerosis related non-synonymous SNPs and their potential effects on protein structure and function 10 target nsSNPs were identified. Among these rs34536443, rs10936599, rs2293152, rs11808092, rs1129183 were found deleterious according to amino acid sequence-based analysis 36544314 Details
High throughput Homo sapiens MS USP15-TRIM25 USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammation The USP15-TRIM25 dyad might be a potential target for intervention in acute or chronic states of neuroinflammation 27721430 Details
High throughput Homo sapiens MS at least a further 29 novel susceptibility loci Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis (GWAS)5-10 have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects play a key role in disease susceptibility 21833088 Details
High throughput Homo sapiens MS rs11129295 Variant of EOMES Associated with Increasing Risk in Chinese Patients with Relapsingremitting Multiple Sclerosis In stage 1 analysis, we confirmed only one previously reported risk variant, rs11129295 in EOMES gene,We found that the frequency of T/T genotype was much higher in MS group (χ2 = 10.251, P = 0.005) and the T allele of rs11129295 increased the risk of MS (χ2 = 10.022, P = 0.002). In stage 2 and combined analyses, the T allele of rs11129295 still increased the risk of MS (χ2 = 4.586, P = 0.030 and χ2 = 16.378, P = 5.19 × 105 , respectively). 29521285 Details
High throughput Homo sapiens MS 452 Gene expression profiling of the astrocyte transcriptome in multiple sclerosis normal appearing white matter reveals a neuroprotective role 452 genes were signicantly differentially expressed (208 up-regulated and 244 down-regulated 27725112 Details
High throughput Homo sapiens MS 20 Dense module searching for gene networks associated with multiple sclerosis Approximately 7500 significant network modules were identified for each independent GWAS dataset, and 20 significant modules were identified from the dual evaluation. 32241259 Details
High throughput Homo sapiens MS N/A Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls We found 62 transcripts to be signicantly up-regulated inMS patients; the expression of 11 of these genes was counter-regulated by interferon treatment, suggesting partial restoration of a ‘healthy’ gene expression prole 23748426 Details
High throughput Homo sapiens MS 191 A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease $ The typing was repeated for the most promising 1269 markers after which 191 potentially associated markers were identified. Eleven of these markers map to the MHC region, and 14 to non-MHC regions identified in previous linkage screens 14575929 Details
High throughput Homo sapiens MS NAbs,BAFF BAFF Is a Biological Response Marker to IFN-尾 Treatment in Multiple Sclerosis We conclude BAFF is a good biomarker for IFN-β response 18715196 Details
High throughput Homo sapiens MS 71 Gene Expression Changes in Multiple Sclerosis Relapse Suggest Activation of T and Non-T Cells 71 of them changed expression in relapse at the P < 0.001 significance level, 46 increased and 25 decreased 20882258 Details
High throughput Homo sapiens MS N/A Cumulative influence of parity-related genomic changes in multiple sclerosis Genome-wide gene expression revealed 574 genes associated with parity; 38.3% showed significant DNA methylation changes 30579155 Details
High throughput Homo sapiens MS SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1 Learning from Nature: Pregnancy Changes the Expression of Inflammation-Related Genes in Patients with Multiple Sclerosis esults showed an altered expression of 347 transcripts in non-pregnant MS patients with respect to non-pregnant healthy controls 20126412 Details
High throughput Homo sapiens MS N/A Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility We identified 233 statistically independent associations with MS susceptibility that are genome-wide significant 31604244 Details
High throughput Homo sapiens EAE 213 Gene-Expression Profiling of Experimental Autoimmune Encephalomyelitis The microarray analysis revealed that 213 genes showed more than 4-fold differential expression in EAE when compared to noninflamed tissue. 12462414 Details
High throughput Homo sapiens MS 637 Illumination of Molecular Pathways in Multiple Sclerosis Lesions and the Immune Mechanism of Matrine Treatment in EAE, a Mouse Model of MS In GSE108000, there were 637 DEGs, including 428 up-regulated and 209 down-regulated genes 33912166 Details
High throughput Homo sapiens MS KIF1B Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis An rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)). 18997785 Details
High throughput Homo sapiens MS NLRP1/NLRP3 Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes 62 genes involved in the NLRP1/NLRP3 inflammasome regulation were screened for potentially pathogenic rare genetic variation 31235738 Details
High throughput Homo sapiens MS N/A Gene expression changes in peripheral blood mononuclear cells from multiple sclerosis patients undergoing beta-interferon therapy On the basis of two-fold changes in expression levels and statistical analyses we selected a candidate diagnostic set of 136 genes that were differentially expressed between pretreatment and IFN-beta-1a-treated MS patients 17467740 Details
High throughput Homo sapiens MS N/A Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression revealed 174 genes altered in both remission and relapse, a high proportion of them showing what we have called "mirror pattern": they are upregulated in remission and downregulated in relapse or vice versa 24587374 Details
High throughput Homo sapiens MS N/A The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts We identified 31 splice site SNPs with the potential to affect splicing, and prioritised 8 to determine the effect of genotype on candidate gene splicing 24044605 Details
High throughput Homo sapiens MS N/A In vivo gene expression revealed by cDNA arrays: the pattern in relapsing-remitting multiple sclerosis patients compared with normal subjects Of more than 4000 genes tested, only 34 were significantly different in RR-MS patients from controls. Of these, 25 were significantly increased and 9 significantly decreased in the RR MS patients 11438176 Details
High throughput Homo sapiens MS HLA Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects We identified 11 statistically independent effects overall: 6 HLA-DRB1 and one DPB1 alleles in class II, one HLA-A and two B alleles in class I, and one signal in a region spanning from MICB to LST1 24278027 Details
High throughput Homo sapiens MS mtDNA mtDNA nt13708A variant increases the risk of multiple sclerosis A SNP, nt13708 G/A, was significantly associated with MS susceptibility in all three cohorts. The nt13708A allele was associated with an increased risk of MS 18270557 Details
High throughput Homo sapiens MS TCR Estimating the ratio of CD4+ to CD8+ T cells using high-throughput sequence data We identify sequence features that differ between CD4+ and CD8+ T cells, including Variable gene usage and CDR3 region length 23428915 Details
High throughput Homo sapiens MS HBD The Role of Hemoglobin Subunit Delta in the Immunopathy of Multiple Sclerosis: Mitochondria Matters Based on WGCNA and DEGs analysis, HBD, HBM, SLC4A1, LILRA5, SLC25A37, SELENBP1, ALYREF, SNRNP40, and HINT3 are the identified common genes in the PMBCS 34504491 Details
High throughput Homo sapiens MS N/A Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms Using multiple functional genomic databases, we identified noncoding variants that disrupt TF binding for GABPA, CTCF, EGR1, YY1, SPI1, CLOCK, ARNTL, BACH1, and GFI1 31482761 Details
High throughput Homo sapiens MS N/A Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci we identified two independent genomic loci (lincRNA: RP11-326C3.13 and TNFSF14) with consistent genome-wide significant pleiotropic associations across different omics layers 33870794 Details
High throughput Homo sapiens MS POLD2 Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis Our study revealed the possible role of novel rare variants in FMS. Molecular dynamic simulation provided the initial evidence of the structural changes behind POLD2 mutant. 34116171 Details
High throughput Homo sapiens MS N/A Microarray analysis identifies an aberrant expression of apoptosis and DNA damage-regulatory genes in multiple sclerosis Among 1258 genes examined, 173 genes in T cells and 50 genes in non-T cells were expressed differentially between MS and CN groups 15755681 Details
High throughput Homo sapiens MS NA The activation of the type I interferon signaling pathway in multiple sclerosis patients treated with russian analogue of Î’-interferon-1b: transcriptome profiling data Thus, the transcriptome profiling analysis allows concluding that the mechanism of action of Infibeta immunomodulatory drug is equal to that described for the original Î’-IFN drugs. 24662360 Details
High throughput Homo sapiens MS TMEM66 Differential upregulation of the hypothetical transmembrane protein 66 (TMEM66) in multiple sclerosis patients with potential inflammatory response In conclusion, TMEM66 may be associated with the molecular events of MS and may be considered as an MS biomarker for future personalized medicine management approaches. 25469256 Details
High throughput Homo sapiens MS UBR2, DST Burden of rare coding variants in an Italian cohort of familial multiple sclerosis We identified 11 genes enriched with predicted damaging low-frequency and rare variants in MS compared to healthy individuals. Among them, UBR2 and DST were the two genes with the strongest enrichment; interestingly enough the association signal in UBR2 is driven by rs62414610, which was present in 25% of analysed families. 34922125 Details
High throughput Homo sapiens MS NA Neuronal methylome reveals CREB-associated neuro-axonal impairment in multiple sclerosis Our data demonstrate that investigating 5mC and 5hmC modifications separately allows the discovery of a substantial fraction of changes occurring in neurons, which can escape traditional bisulfite-based DNA methylation analysis. Collectively, our findings indicate that neurons of MS patients acquire sustained hypo-5mC and hyper-5hmC, which may impair CREB-mediated neuro-axonal integrity, in turn relating to clinical symptoms. 31146783 Details
High throughput Homo sapiens MS NA MS risk genes are transcriptionally regulated in CSF leukocytes at relapse DNA microarray analysis is useful in identifying differently expressed genes in CSF leukocytes, which may be important in MS in vivo. Our findings suggest that many of the risk genes for MS are differently expressed in the disease-mediating leukocytes that penetrate the blood-brain barrier. 22907940 Details
High throughput Homo sapiens PPMS/RRMS NA Global transcriptome profiling of mild relapsing remitting versus primary progressive Multiple Sclerosis 84 genes were significantly deregulated between the groups. Among those, nineteen had been previously reported to be deregulated in MS patients as compared to healthy controls, including major histocompatibility complex, interferon receptor 2, and interleukin 6 receptor. 29316044 Details
High throughput Homo sapiens RRMS NA Improvement of fatigue in multiple sclerosis by physical exercise is associated to modulation of systemic interferon response N/A 25773148 Details
High throughput Homo sapiens RRMS TBX21 The switch between relapse and remission in multiple sclerosis: Continuous inflammatory response balanced by Th1 suppression and neurotrophic factors Our findings suggest that the relapsing-remitting pattern of MS is an ongoing process where inflammation is persistently active in the background of a changing magnitude of processes associated with TBX21-mediated immune suppression and activation of BDNF-related neuroprotection. 22921736 Details
High throughput Homo sapiens RRMS IFN Pharmacogenomics of Interferon- Therapy in Multiple Sclerosis: Baseline IFN Signature Determines Pharmacological Differences between Patients These data imply that the expression levels of IFN response genes in the peripheral blood of MS patients prior to treatment could serve a role as biomarker for the differential clinical response to IFN. 18382694 Details
High throughput Homo sapiens RRMS NA RNA Sequencing of CD4+ T Cells in Relapsing–Remitting Multiple Sclerosis Patients at Relapse: Deciphering the Involvement of Novel genes and Pathways By applying global transcriptome profiling of CD4+ T cells, we deciphered the involvement of several novel genes and pathways in MS pathogenesis. The present results must be confirmed by in vivo and in vitro studies 34286457 Details
High throughput Homo sapiens MS NA Transcriptome analysis of normal-appearing white matter reveals cortisol- and disease-associated gene expression profiles in multiple sclerosis Overall, the data suggest that HPA-axis activity strongly impacts on molecular mechanisms in NAWM of MS patients, but partly also independently of disease severity 31023360 Details
High throughput Homo sapiens MS NA Laquinimod suppress antigen presentation in relapsing–remitting multiple sclerosis:In-vitro high-throughput gene expression study We demonstrated that LAQ induced suppression of genes related to antigen presentation and corresponding inflammatory pathways. These findings were demonstrated mainly via the NFkB pathway. 20347159 Details
High throughput Homo sapiens MS NA Transcriptomic Analysis of Peripheral Monocytes upon Fingolimod Treatment in Relapsing Remitting Multiple Sclerosis Patients Our data support the evidence that FTY induces major transcriptional changes in monocytes, mainly regarding genes involved in cell trafficking and immune cell activation. 34181235 Details
High throughput Homo sapiens MS tgf - β- r2 Molecular signature of different lesion types in the brain white matter of patients with progressive multiple sclerosis The signature of the normal-appearing white matter (NAWM) was more similar to control WM than to lesions: only 465 DEGs differentiated NAWM from controls, and 16 were unique. The upregulated marker CD26/DPP4 was expressed by microglia in the NAWM but by mononuclear cells in active lesions, which may indicate a special subset of microglia before the lesion develops, but also emphasizes that omics related to MS lesions should be interpreted in the context of different lesions types. 31829262 Details
High throughput Homo sapiens MS LGALS9,TCIR1G Gene expression analysis of interferon-β treatment in multiple sclerosis In addition, the study identified the induction of LGALS9 and TCIR1G, involved in negative regulation of T helper type I immunity and T-cell activation, as novel effects of IFN-β therapy in MS. 18408020 Details
High throughput Homo sapiens MS IFNβ Microarray analysis identifies a set of CXCR3 and CCR2 ligand chemokines as early IFNβ-responsive genes in peripheral blood lymphocytes in vitro: an implication for IFNβ-related adverse effects in multiple sclerosis Among 1,258 genes on the array, IFNβ elevated the expression of 107 and 87 genes, while it reduced the expression of 22 and 23 genes at 3 and 24 hours, respectively. Upregulated IRGs were categorized into conventional IFN-response markers, components of IFN-signaling pathways,chemokines, cytokines, growth factors, and their receptors, regulators of apoptosis, DNA damage,and cell cycle, heat shock proteins, and costimulatory and adhesion molecules. IFNβ markedly upregulated CXCR3 ligand chemokines (SCYB11, SCYB10 and SCYB9) chiefly active on effector T helper type 1 (Th1) T cells, and CCR2 ligand chemokines (SCYA8 and SCYA2) effective on monocytes, whereas it downregulated CXCR2 ligand chemokines (SCYB2, SCYB1 and IL8)primarily active on neutrophils. 16709257 Details
High throughput Homo sapiens MS D6S265, D12S1064, TNFa, D7S1824, D14S1426, D14S605 and D21S2051 Genetic analysis of multiple sclerosis in Europeans: French data The most promising 117 markers were then followed up in a two-step validation process. In the first step, additional PCR of the DNA pools was performed in order to refine the ranking order. In the second step, markers were genotyped in individual cases and parents from the trio families. Seven markers showing nominally significant allele frequency differences between affected and unaffected emerged-D6S265, D12S1064, TNFa, D7S1824, D14S1426, D14S605 and D21S2051. These potential associations will require confirmation in further studies. 14575918 Details
High throughput Homo sapiens MS NA Expression profiling identifies responder and non-responder phenotypes to interferon-b in multiple sclerosis by cDNA microarrays and demon-strate that non-responder and responder phenotypes to IFN-b as assessed by longitudinal gadolinium-enhanced MRI scans and clinical disease activity differ in their ex vivo gene expression profile. 12764062 Details
High throughput Homo sapiens MS NA Impaired Expression of Peripheral Blood Apoptotic-Related Gene Transcripts in Acute Multiple Sclerosis Relapse The 1578 gene transcripts that significantly differentiated acute relapse from re-mission were enriched by 55 apoptotic-related genes in that reflected dif-ferent operating pathways during the acute phase of the disease. 17804543 Details
High throughput Homo sapiens PPMS/SPMS/RRMS FAM119B,CD40 The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis Overall, these data indicate dysregulation of T cells can be detected in the whole blood of untreated MS patients, and sup-ports targeting of activated T cells in therapy for all forms of MS. 20190274 Details
High throughput Homo sapiens MS HSPs Transcriptional Profiling of Microdissected Areas of Active Multiple Sclerosis Lesions Reveals Activation of Heat Shock Protein Genes This is the first global analysis of transcriptional changes in HSPs in the central nervous system during MS. The results support a relationship between HSP activation and lesion activity. 22715030 Details
High throughput Homo sapiens RRMS PGAP3 The circular RNA landscape in multiple sclerosis: Disease-specific associated variants and exon methylation shape circular RNA expression profile We described the circRNA expression profile of PBMCs in MS patients, suggesting that MS-associated variants may tune the expression levels of circRNAs acting as “circ-QTLs”, and proposing a role for exon-based DNA methylation in regulating circRNA expression. 36446168 Details
High throughput Homo sapiens MS N/A Skin and gut imprinted helper T cell subsets exhibit distinct functional phenotypes in central nervous system autoimmunity By site-specific in vivo labeling of antigen-specific T cells in inguinal (i) or gut draining mesenteric (m) lymph nodes, we show that i-T cells and m-T cells isolated from the inflamed central nervous system in a model of multiple sclerosis are distinct. i-T cells were Cxcr6 and m-T cells expressed P2rx8. Notably, m-T cells infiltrated white matter while i-T cells were also recruited to grey matter. 34099917 Details
High throughput Homo sapiens MS 572 Upregulation of immunoglobulin-related genes in cortical sections from multiple sclerosis patients Of these, 296 probes were downregulated and 276 probes were upregulated in MS, representing 279 and 253 unique genes, respectively. 19919606 Details
High throughput Homo sapiens MS 3669 A whole genome association study in Finnish multiple sclerosis patients with 3669 markers Usable data were obtained from 3669 markers, 1863 markers being excluded due to failed PCR or excess signal intensity exceeding the linear range of the 3700 detection system. Repeat analysis was performed in the 472 markers showing the greatest differences between case and control pools in this initial data. 14575917 Details
High throughput Homo sapiens MS 39 ISGs Novel interferon-beta-induced gene expression in peripheral blood cells PBMC were prepared, and RNA was extracted, reverse-transcribed, and hybridized to cDNA microarrays, and microarray analysis identified 39 ISGs and 20 IFN-repressed genes (IRGs). 17709400 Details
High throughput Homo sapiens MS N/A A subtype of multiple sclerosis defined by an activated immune defense program We conclude that the transcriptional signature of the PB cells reflects the heterogeneity of MS and defines a sub-population of RRMS patients, who exhibit an activated immune defense program that resembles a virus response program, which is supportive for a link between viruses and MS. 16837931 Details
High throughput Homo sapiens MS 230 genes Matrix metalloproteinase 9 is decreased in natalizumab-treated multiple sclerosis patients at risk for progressive multifocal leukoencephalopathy At baseline, a total of 230 genes were differentially expressed with adjusted p-values <0.05 between the pre-PML and NTZ-ctr groups. 28681388 Details
High throughput Homo sapiens MS 95 genes MicroRNA expression changes during interferon-beta treatment in the peripheral blood of multiple sclerosis patients In total, 95 genes were identified as up-regulated (n = 75) or down-regulated (n = 20) in the early course of the therapy. 23921681 Details
High throughput Homo sapiens MS six SNP–gene pairs Genetic risk variants for multiple sclerosis are linked to differences in alternative pre-mRNA splicing Signal intensities (in log2 scale) and group means (black lines) are depicted for the ASEs of the six SNP–gene pairs for which we found significant associations with the genotype. 36405756 Details
High throughput Homo sapiens MS 14 markers A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population After refining analysis of the most promising 14 markers to emerge from this screening process, only marker D2S367 retained evidence for association. 14575923 Details
High throughput Homo sapiens MS 582 Peripheral T-Cells, B-Cells, and Monocytes from Multiple Sclerosis Patients Supplemented with High-Dose Vitamin D Show Distinct Changes in Gene Expression Profiles Within CD19 cell type, 564 genes were differentially expressed before and after vitamin D treatments (304 genes up-regulated and 260 genes down-regulated after the treatment; >1.2×-fold change, p value < 0.05; +Figure 2A). Similarly, 200 and 435 genes were differentially expressed within CD14 and CD4 cells, respectively. 36432424 Details
High throughput Homo sapiens MS N/A LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients Data from discovery and replications cohorts showed a generalized dysregulation of lncRNA levels in MS patients compared with controls. MALAT1, MEG9, NRON, ANRIL, TUG1, XIST, SOX2OT, GOMAFU, HULC, BACE-1AS were significantly downregulated in MS patients in comparison with controls. 30170791 Details
High throughput Homo sapiens MS N/A Genetic contribution to multiple sclerosis risk among Ashkenazi Jews These results suggest that genetic susceptibility to MS in Ashkenazi Jews has not been as well established as that of non-Ashkenazi Europeans. 26212423 Details
High throughput Homo sapiens MS 3 SNP Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene We conducted a GWAS of 68 distantly related cases and 136 controls from a high-risk internal isolate of Finland with increased prevalence and familial occurrence of MS. 20159113 Details
High throughput Homo sapiens MS 8300 genes Gene expression profiles in Finnish twins with multiple sclerosis It appeared that 25 genes were at least two-fold up-regulated and 15 genes down-regulated in 25% (2/8) of twins with MS when compared to their healthy siblings. 16504146 Details
High throughput Homo sapiens MS 183 Age-related blood transcriptional regulators affect disease progression in pediatric multiple sclerosis The POMS MRI correlated DEGs (n = 183) and their upstream regulators (n = 718) has overlapped with age related DEGs obtained from healthy subjects (n = 497). This evaluated common DEGs (n = 29) defined as POMS age-related regulators, suggesting to promote effect on disease severity. 36493973 Details
High throughput Homo sapiens MS 83 Discovery of Novel Biomarkers for Diagnosing and Predicting the Progression of Multiple Sclerosis Using TMT-Based Quantitative Proteomics Compared to NINCs, we identified 83 CSF-specific DEPs out of a total of 343 proteins in MS patients. 34489947 Details
High throughput Homo sapiens MS 149 differentially expressed (DE) genes Non-parametric combination analysis of multiple data types enables detection of novel regulatory mechanisms in T cells of multiple sclerosis patients By integrating the output of a differential expression test with a permutation-based non-parametric combination methodology, we identified 149 differentially expressed (DE) genes in both CD4 and CD8 cells collected from MS patients. 31427643 Details
High throughput Homo sapiens multiple sclerosis-to-be and multiple sclerosis-free 1051 highly variable genes Microarray analysis identifies altered regulation of nuclear receptor family members in the pre-disease state of multiple sclerosis Within the 1051 highly variable genes that differentiated between multiple sclerosis-to-be and multiple sclerosis-free subjects, we identified activation of TCR signaling that triggered the Cbl and MAPK cascade in concert with downstream synergic over-expression of NFAT and MEF2B, but failed to augment the expression of the nuclear receptor gene family members NR4A1, NR2F1, VDR and MEF2B, that further resulted in impaired apoptotic machinery. 20079437 Details
High throughput Homo sapiens MS 69 genes Quantitative and qualitative changes in gene expression patterns characterize the activity of plaques in multiple sclerosis In this study, RNA from MS chronic active and MS acute lesions was extracted, and compared with patient matched normal white matter by fluorescent cDNA microarray hybridization analysis. This resulted in the identification of 139 genes that were differentially regulated in MS plaque tissue compared to normal tissue. 14625084 Details
High throughput Homo sapiens MS N/A Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families We found: (i) a variant (43181034 T > G) in the splicing region on exon 27 of CUL9; (ii) a variant (50245517 A > C) in the splicing region on exon 16 of ATP9A; (iii) a non-synonymous variant (43223539 A > C), on exon 9 of TTBK1; (iv) a non-synonymous variant (42976917 A > C) on exon 9 of PPP2R5D; and v) a variant (109859349-109859354) in 3'UTR of MYO16. 34889895 Details
High throughput Homo sapiens MS 43 Transcript specific regulation of expression influences susceptibility to multiple sclerosis Our data thus indicate that some of the MS-associated SNVs identified by GWAS likely exert their effects on risk by distorting the balance of alternate transcripts rather than by changing the overall level of gene expression. 31932686 Details
High throughput Homo sapiens MS TCF2 Microarray analysis in B cells among siblings with/without MS - role for transcription factor TCF2 No study has linked TCF2 to MS and to better understand the role of TCF2 in MS, studies in larger cohorts are required 18237449 Details
High throughput Homo sapiens MS N/A Prediction of acute multiple sclerosis relapses by transcription levels of peripheral blood cells We conclude that gene expression analysis is a valuable tool that can be used in clinical practice to predict future MS disease activity. Similar approach can be also useful for dealing with other autoimmune diseases that characterized by relapsing-remitting nature 19624813 Details
High throughput Homo sapiens MS N/A Endogenous retroviruses and human disease Convincing evidence has been found that the HERV-W family has a physiological role in early pregnancy and a role in multiple sclerosis as a cofactor and predictor of disease progression. Data available for HERVs and other diseases are attractive, but further studies are required 20477095 Details
High throughput Homo sapiens MS TCR V gene T Cell Receptor Va-VB Repertoire and Cytokine Gene Expression in Active Multiple Sclerosis Lesions autoreactive T cells thought to be critical in the initiation of the inflammatory process probably represent a minor fraction of T cells in active MS plaques and may use a limited number of TCR V gene segments for recognition of the autoantigen 1348083 Details
High throughput Homo sapiens MS VEGF Molecular Changes in Normal Appearing White Matter in Multiple Sclerosis are Characteristic of Neuroprotective Mechanisms Against Hypoxic Insult An increased understanding of the underlying mechanisms may lead to the development of new more specific treatment to protect resident cells and thus minimize progressive oligondendrocyte and axonal loss 14655760 Details
High throughput Homo sapiens MS SCYA4 Understanding Autoimmune Mechanisms in Multiple Sclerosis Using Gene Expression Microarrays: Treatment Effect and Cytokine-related Pathways Our results indicate that cytokine-associated genes are involved in various pathogenic pathways in MS and also related to immunomodulatory treatment effects 15559377 Details
High throughput Homo sapiens MS HLA-DRB1 Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients Associations were neither found when stratifying the material for the HLA-DRB1*1501, DQB1*0602 haplotype, gender, age at onset, disease course nor familial aggregation. In conclusion, this study could not confirm association with the CD28/CTLA4/ICOS gene region. 16005527 Details
High throughput Homo sapiens MS IFN-b Gene expression profiles reveal homeostatic dynamics during interferon-b therapy in multiple sclerosis gene expression changes became less pronounced after 3 months of therapy, suggesting a homeostatic response to IFN-b. This may be of use for the design of new treatment schedules 17364493 Details
High throughput Homo sapiens MS N/A Zinc-ion binding and cytokine activity regulation pathways predicts outcome in relapsing–remitting multiple sclerosis An optimal set of 29 genes was depicted as a clinical outcome predictive gene expression signature and classified appropriately 88·9% of patients. This predictive signature was enriched by genes related biologically to zinc-ion binding and cytokine activity regulation pathways involved in inflammation and apoptosis. Our findings provide a basis for monitoring patients by prediction of disease outcome and can be incorporated into clinical decisionmaking in relapsing–remitting MS 17488294 Details
High throughput Homo sapiens MS MOG Variation of the Myelin Oligodendrocyte Glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population After re-sequencing the MOG gene in 21 healthy parents of MS patients we detected 134 variants, 33 of which were novel. A set of 40 informative SNPs was then selected and assessed for disease association together with 1 intragenic microsatellite in an initial data set of 239 MS families. 17509152 Details
High throughput Homo sapiens MS MCS SNPs in Multi-Species Conserved Sequences (MCS) as useful markers in association studies: a practical approach Analysis of our MCS-SNP genotypes from the 1q43 region and comparison to HapMap data confirmed that annotated SNPs in MCS regions are frequently polymorphic and show subtle signatures of selective pressure, consistent with previous reports of genome-wide variation in conserved regions. We also present an online tool that allows MCS data to be directly exportedto the UCSC genome browser so that MCS-SNPs can be easily identified within genomic regions of interest. 17683615 Details
High throughput Homo sapiens MS NDUFS2 Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility These results add to the evidence suggesting that variation in mtDNA and nuclear encoded mitochondrial genes may contribute to disease susceptibility in multiple sclerosis 18682780 Details
High throughput Homo sapiens MS SCZ Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci our findings demonstrate genetic pleiotropy between SCZ and MS and suggest that the MHC signals may differentiate SCZ from BD susceptibility 24468824 Details
High throughput Homo sapiens MS HLA Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array The effect of nine SNPs in the HLA region remained (P < 105) after adjustment for other significant SNPs in the HLA region. All of these findings have been reported before or are driven by known risk loci. In summary, findings from previous GWAS for MS could be successfully replicated. We conclude that the regions identified in previous GWAS are also associated in the German population. This reassures the need for detailed investigations of the functional mechanisms underlying the replicated associations 26497834 Details
High throughput Homo sapiens MS SGK1 Identifying Causal Genes at the Multiple Sclerosis Associated Region 6q23 Using Capture Hi-C These results suggest that the four 6q23 variants, independently associated with MS, are involved in the regulation of several genes, including immune genes. These findings could help understand mechanisms of disease and suggest potential novel therapeutic targets 27861577 Details
High throughput Homo sapiens MS LRP2 Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis The finding of a genetic locus that has extensive effects on neuronal development and repair is of interest as a potential modulator of MS disease course 28739605 Details
High throughput Homo sapiens MS N/A Cerebrospinal fuid cells immune landscape in multiple sclerosis Our study identifed the change in the CNS immune microenvironment of MS cases by analysis of the in silico data using CIBERSORT. Our data may assist in providing directions for further research as to the molecular mechanisms of MS and provide future potential therapeutic targets in treatment 33766068 Details
High throughput Homo sapiens MS HML6 Development of real-time PCRs for detection and quantitation of human MMTV-like (HML) sequences HML expression in human tissues Betaretrovirus-like RNA was studied in normal human tissues and of HML6 in brains of multiple sclerosis (MS) patients. Brain, adrenal gland and testis had a high betaretrovirus-like expression. Multiple sclerosis plaques contained the same HML6 RNA concentration as control tissue. These assays are expected to enhance studies on involvement of betaretroviruses in physiology and disease 16713632 Details
High throughput Homo sapiens MS CTLA-4 The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children lower percentages of CD4 + (P = 0·002) and CD4 + CD25high (P = 0·002) cells expressing CTLA-4 were observed in children positive for HLA DQA1*0501–DQB1*0201 and DQA1*0301–DQB1*0302 (P = 0·04 for CD4 + and P = 0·02 for CD4 + CD25high) risk haplotypes when compared to children without these alleles. The percentage of CD25high cells among CD4 + cells was correlated inversely with CTLA-4 mRNA expression in PBMC (r = –0·56, P = 0·03). Decreased levels of CTLA-4 in CD4 + and CD4 + CD25high cells in individuals with CTLA-4 and HLA class II alleles associated with T1D may contribute to the initiation and/or progression of autoimmune response 16792673 Details
High throughput Homo sapiens MS GFAP Expression profiling identifies a molecular signature of reactive astrocytes stimulated by cyclic AMP or proinflammatory cytokines this pattern of differential gene expression is not observed in hyperproliferating or neoplastic glia 18054918 Details
High throughput Homo sapiens MS CD41 Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing we show in CD41 T cells from a further individual that high-throughput sequencing of genomic DNA and RNA-seq following enrichment for targeted gene sequences by sequence capture methods offers an unbiased means to increase the read depth for transcripts of interest, and therefore a method to investigate the regulatory role of many disease-associated genetic variants 19825846 Details
High throughput Homo sapiens MS、MDD、NEU、OCD、AD、ALS、PD ATP1B1、CLTC、GNB1、NSF、NDUFS3、PHGDH、SLC25A12 Distinct effect of prenatal and postnatal brain expression across 20 brain disorders and anthropometric social traits: a systematic study of spatiotemporal modularity were supported and corroborated prior knowledge in specific brain disorders, such as clathrin-mediated endocytosis in AD, myelin sheath in multiple sclerosis and regulation of synaptic plasticity in both college completion and education. Our study provides a landscape view of the spatiotemporal features in a myriad of brain-related disorders and traits 34086851 Details
High throughput Homo sapiens MS N/A MicroRNA Expression Profiling of Oligodendrocyte Differentiation from Human Embryonic Stem Cells we have shown that our analyses of miRNA profiling can be used to distinguish between different stages of oligodendrocyte differentiation. Specifically, we have identified a number of miRNAs which may potentially regulate or mark key steps in OL differentiation from human ES cells, along with their potential protein targets. These interactions may have significant roles in oligodendrocyte differentiation and myelin production. 20463920 Details
High throughput Homo sapiens MS NFATC2 TNF-a Contributes to Caspase-3 Independent Apoptosis in Neuroblastoma Cells: Role of NFAT These data demonstrate that TNF-a promotes FasL expression through NFAT activation in neuroblastoma cells and this event leads to increased apoptosis through independent caspase-3 activation. 21298033 Details
High throughput Homo sapiens MS ESR1 Integrating multiple oestrogen receptor alpha ChIP studies: overlap with disease susceptibility regions, DNase I hypersensitivity peaks and gene expression We found that binding sites present in multiple datasets were enriched for classical ESR1 binding motifs, DNase I hypersensitivity peaks and differentially expressed genes after estradiol treatment compared with those present in only few datasets. There was significant enrichment of ESR1 binding present in multiple datasets near genomic regions associated with breast cancer (7.45-fold, p = 0.001), height (2.45-fold, p = 0.002), multiple sclerosis (5.97-fold, p < 0.0002) and prostate cancer (4.47-fold, p = 0.0008), and suggestive evidence of ESR1 enrichment for regions associated with coronary artery disease, ovarian cancer, Parkinson’s disease, polycystic ovarian syndrome and testicular cancer. Integration of multiple cell line ESR1 ChIP datasets also increases overlap with ESR1 ChIP-seq peaks from primary cancer samples, further supporting this approach as helpful in identifying true positive ESR1 binding sites in cell line systems. 24171864 Details
High throughput Homo sapiens MS、PD PNGRC Identification of a novel Parkinson’s disease locus via stratified genome-wide association study We discovered and replicated a new locus for Sporadic-PD which had escaped detection in un-stratified GWAS. This demonstrates that by stratifying on a key variable the power gained due to diminished heterogeneity can sometimes outweigh the power lost to reduced sample size. We also detected distinct patterns of disease associations for previously established PD susceptibility genes, which gives an insight to the genetic architecture of the disease and could aid in the selection of appropriate study population for future studies. 24511991 Details
High throughput Homo sapiens MS、NMOSD HLA-DRB1 Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg HLA alleles were also determined and patients who developed CNS IDD shared a common signature with diseases such as Multiple sclerosis (MS) and Neuromyelitis Optica Spectrum Disorders (NMOSD). When these genes were included in Gene Ontology analyses, pathways associated with CNS IDD syndromes were retrieved, suggesting that CHIKV-induced CNS outcomes may share a genetic background with other neurological disorders. To our knowledge, this study was the first genome-wide investigation of genetic risk factors for CNS phenotypes in CHIKV infection. Our data suggest that HLA-DRB1 alleles associated with demyelinating diseases may also confer risk of CNS IDD outcomes in patients with CHIKV infection. 33815474 Details
High throughput Homo sapiens NMOSD USP18 Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants Most clinical characteristics of familial NMOSD were indistinguishable from sporadic NMOSD except for the worst episodes severity. USP18 with impaired intronic regulatory function contributed to the pathogenesis of NMOSD 36376024 Details
High throughput Homo sapiens MS、progressive multifocal leukoencephalopathy, periventricular leukomalacia, and several leukodystrophies GANT61 Temporal and partial inhibition of GLI1 in neural stem cells (NSCs) results in the early maturation of NSC derived oligodendrocytes in vitro This is a small molecule-based in vitro protocol that leads to the faster generation of functional oligodendrocytes. The development of protocols that lead to efficient and faster differentiation of oligodendrocytes from progenitors provides important advances toward the development of autologous neural stem cell-based therapies using human iPSCs. 31455382 Details
High throughput Homo sapiens breast cancer、heart attack, Alzheimer’s and multiple sclerosis QSER1 The plasma peptides of breast versus ovarian cancer Peptides and/or phosphopeptides of common plasma proteins such as APOE, C4A, C4B, C3, APOA1, APOC2, APOC4, ITIH3 and ITIH4 showed increased observation frequency and/or precursor intensity in breast cancer. Many cellular proteins also showed large changes in frequency by Chi Square (χ2>100, p<0.0001) in the breast cancer samples such as CPEB1, LTBP4, HIF-1A, IGHE, RAB44, NEFM, C19orf82, SLC35B1, 1D12A, C8orf34, HIF1A, OCLN, EYA1, HLA-DRB1, LARS, PTPDC1, WWC1, ZNF562, PTMA, MGAT1, NDUFA1, NOGOC, OR1E1, OR1E2, CFI, HSA12, GCSH, ELTD1, TBX15, NR2C2, FLJ00045, PDLIM1, GALNT9, ASH2L, PPFIBP1, LRRC4B, SLCO3A1, BHMT2, CS, FAM188B2, LGALS7, SAT2, SFRS8, SLC22A12, WNT9B, SLC2A4, ZNF101, WT1, CCDC47, ERLIN1, SPFH1, EID2, THOC1, DDX47, MREG, PTPRE, EMI LIN1, DKFZp779G1236 and MAP3K8 among others. The protein gene symbols with large Chi Square values were signifcantly enriched in proteins that showed a complex set of previously established functional and structural relationships by STRING analysis. An increase in mean precursor intensity of peptides was observed for QSER1 as well 31889940 Details
High throughput Homo sapiens breast cancer、heart attack, Alzheimer’s and multiple sclerosis N/A The plasma peptides of sepsis Peptides and/or phosphopeptides of common plasma proteins such as ITIH3, SAA2, SAA1, and FN1 showed increased observation frequency by Chi square (χ2>9, p<0.003) and/or precursor intensity in sepsis. Cellular gene symbols with large Chi square values from tryptic peptides included POTEB, CTNNA1, U2SURP, KIF24, NLGN2, KSR1, GTF2H1, KIT, RPS6KL1, VAV2, HSPA7, SMC2, TCEB3B, ZNF300, SUPV3L1, ADAMTS20, LAMB4, MCCC1, SUPT6H, SCN9A, SBNO1, EPHA1, ABLIM2, cB5E3.2, EPHA10, GRIN2B, HIVEP2, CCL16, TKT, LRP2 and TMF1 amongst others showed increased observation frequency. Similarly, increased frequency of tryptic phosphopeptides were observed from POM121C, SCN8A, TMED8, NSUN7, SLX4, MADD, DNLZ, PDE3B, UTY, DEPDC7, MTX1, MYO1E, RXRB, SYDE1, FN1, PUS7L, FYCO1, USP26, ACAP2, AHI1, KSR2, LMAN1, ZNF280D and SLC8A2 amongst others. Increases in mean precursor intensity in peptides from common plasma proteins such as ITIH3, SAA2, SAA1, and FN1 as well as cellular proteins such as COL24A1, POTEB, KANK1, SDCBP2, DNAH11, ADAMTS7, MLLT1, TTC21A, TSHR, SLX4, MTCH1, and PUS7L among others were associated with sepsis. The processing of SAA1 included the cleavage of the terminal peptide D/PNHFRPAGLPEKY from the most hydrophilic point of SAA1 on the COOH side of the cystatin C binding that was most apparent in ICU-Sepsis patients compared to all other diseases and controls. Additional cleavage of SAA1 on the NH2 terminus side of the cystatin binding site were observed in ICU-Sepsis. Thus there was disease associated variation in the processing of SAA1 in ICU-Sepsis versus ICU controls or other diseases and controls. 32636717 Details
High throughput Homo sapiens MS NF-κB GRP78 Antibodies Are Associated With Blood-Brain Barrier Breakdown in Anti–Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disorder GRP78 antibodies may be associated with BBB dysfunction in MOG-Ab–associated disorder.RNA-seq and pathway analysis revealed that NF-κB signaling and oxidative stress (NQO1) play key roles. The NQO1 and Nrf2 protein amounts were significantly decreased after exposure to IgG in the acute MOG group. The rate of GRP78 antibody positivity in the acute MOG group (10/15, 67% [95% confidence interval, 38%–88%]) was significantly higher than that in the stable MOG group (5/14, 36% [13%–65%]), multiple sclerosis group (4/29, 14% [4%–32%]), the DCs (3/27, 11% [2%–29%]), or HCs (0/9, 0%). Removal of GRP78 antibodies from MOG-IgG reduced the effect on NF-κB nuclear translocation and increased permeability 34725263 Details
High throughput Homo sapiens、samples of fresh frozen brain lesions obtained at early autopsy (1.5–4.0 h post mortem) from four MS patients immune-mediated injury HOG、MO3.13 Characterization of three human oligodendroglial cell lines as a model to study oligodendrocyte injury: Morphology and oligodendrocyte-specific gene expression In conclusion, our data show that the oligodendroglial cell lines HOG and MO3.13 can be used as a model of human oligodendrocytes ‘arrested’ in an immature developmental stage. Culturing in appropriate medium can induce further differentiation of these cells. These cell lines can therefore be applied as a model to study immune-mediated injury of oligodendrocytes in relation to disease. 14618099 Details
High throughput Homo sapiens、samples of fresh frozen brain lesions obtained at early autopsy (1.5–4.0 h post mortem) from four MS patients MS N/A Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans Our findings indicate that three large, geographically distinct subregions of Sardinia show no significant evidence of inter-region genetic heterogeneity by any of the established measures of population differentiation. In particular, sub-populations from the Sardinian coastal regions (the Campidano and Gallura areas), which suffered cultural and political dominations over many years do not significantly differ from the most internal and isolated part of the island (Barbagia area), which was never under foreign control. This is in agreement with other studies that analysed different chromosomes and independent samples 18183308 Details
High throughput Homo sapiens MS N/A Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data The results are consistent with the polygenic model of inheritance. The cumulative genetic risk established using currently available genome-wide association data provides important insights into disease heterogeneity and completeness of current knowledge in MS genetics 21244703 Details
High throughput Homo sapiens HAM/TSP N/A Systems Biology Approaches Reveal a Specific Interferon-Inducible Signature in HTLV-1 Associated Myelopathy We conclude that over-expression of a subset of IFNstimulated genes in chronic HTLV-1 infection does not constitute an efficient host response but instead contributes to the development of HAM/TSP. 22291590 Details
High throughput Homo sapiens glioma, schwannoma, MS, or nontumor disorders N/A Soluble protein tyrosine phosphatase receptor type Z (PTPRZ) in cerebrospinal fluid is a potential diagnostic marker for glioma sPTPRZ in CSF is a promising diagnostic biomarker for glioma and could reduce the need for a surgical biopsy 32642707 Details
High throughput Homo sapiens autoimmune diseases N/A A Mendelian randomization study of genetic predisposition to autoimmune diseases and COVID19 Genetic liability to the autoimmune diseases examined was largely not related to susceptibility to or severity of COVID-19. Further investigations of the relation of immunosuppressive treatments and other autoimmune diseases with susceptibility to and severity of COVID-19 is warranted. Whether COVID-19 infection induces autoimmune disease requires further studies 36271292 Details
High throughput Homo sapiens chronic inflammatory conditions,such as Alzheimer’s disease, Hashimoto’s thyroiditis, multiple sclerosis, and intestinal inflammation N/A Systems biology reveals anatabine to be an NRF2 activator we experimentally verified our key computational predictions. Using an appropriate luciferase reporter cell system, we were able to demonstrate that anatabine treatment results in NRF2 (nuclear factor-erythroid factor 2-related factor 2) translocation, and our systematic phosphoproteomic assays showed that anatabine treatment results in activation of MAPK signaling. While there are certain areas to be explored in deciphering the exact anti-inflammatory mechanisms of action of anatabine and other NRF2 activators, we believe that anatabine constitutes an interesting molecule for its therapeutic potential in NRF2-related diseases 36467029 Details
High throughput Homo sapiens demyelinating disorder,such as MS N/A Human oligodendrocyte myelination potential; relation to age and differentiation We demonstrate that pediatric progenitor and mature cells ensheathed nanofibers more robustly than did adult progenitor and mature cells respectively. Within both age groups, the percentage of fibers ensheathed and ensheathment length per fiber were greater for A2B5+ progenitors. Gene expression of oligodendrocyte progenitor markers PDGFRA and PTPRZ1 were higher in A2B5+ vs A2B5- cells and in pediatric A2B5+ vs adult A2B5+ cells. p38 MAP kinases and actin cytoskeleton-associated pathways were upregulated in pediatric cells; both have been shown to regulate OL process outgrowth. Significant upregulation of “cell senescence” genes was detected in pediatric samples; this could reflect their role in development and the increased susceptibility of pediatric oligodendrocytes to activating cell death responses to stress 34952986 Details
High throughput Homo sapiens MS G511525、D6S1666 Mapping of a susceptibility gene for multiple sclerosis to the 51 kb interval between G511525 and D6S1666 using a new method of haplotype sharing analysis Within this region, HSS, which is largely independent of association and TDT, indicated the interval of 51 kb between G511525 and D6S1666 as that most likely to contain a susceptibility gene for MS. As DQB1 is the sole gene known in this interval at present, the results of our analysis suggest that this gene plays a role in the pathogenesis of MS 11714103 Details
High throughput Homo sapiens MS MOG Myelin oligodendrocyte glycoprotein ( MOG) gene polymorphisms and multiple scl.erosis: no evidence of disease association with MOG This is not in favour of the implication of (he MOG gene in the genetic component of multiple sclerosis, unless different independent mutations have occurred within this gene 7593547 Details
High throughput Homo sapiens MS HLA DR2 Analysis of IL4R haplotypes in predisposition to multiple sclerosis These findings suggest a potentially important role for the IL4R gene in predisposition to MS, and provide further evidence of its relevance as a candidate gene for immune-related diseases. 14712310 Details
High throughput Homo sapiens MS ISGF3-γ Suppression of immune system genes by methylprednisolone in exacerbations of multiple sclerosis Preliminary results The suppression of expression of genes associated with T-cell differentiation and antigenspecific T-cell activation detected in this study may contribute to the beneficial effect of MP in relapses of MS 15503100 Details
High throughput Homo sapiens MS BCL2, lifeguard, IGFBP3 and VEGF Unique gene expression patterns in human T-cell lines generated from multiple sclerosis patients by stimulation with a synthetic MOG peptide Our results indicate that activation in MS that promotes T-cell survival and expansion, has its own state and that the unique gene expression pattern that characterize autoreactive Tcells in MS represent a constellation of factors in which the chronicity, timing and accumulation of damage make the difference between health and disease 16295526 Details
High throughput Homo sapiens MS TNFRSF1A Late-Onset Tumor Necrosis Factor Receptor–Associated Periodic Syndrome in Multiple Sclerosis Patients Carrying the TNFRSF1A R92Q Mutation Autoinflammatory syndromes and especially late-onset TRAPS should be considered in MS patients who report symptoms such as arthralgias/ arthritis, myalgias, urticarial rash, and severe fatigue 17665448 Details
High throughput Homo sapiens MS NOS2A Preliminary evidences of a NOS2A protective effect from Relapsing–Remitting Multiple Sclerosis we found that the NOS2A (CCTTT)14 allele was detected more frequently in the control group than in the RRMS patients, thus confirming the scientific interest on this marker 17854833 Details
High throughput Homo sapiens MS N/A Gene expression profiling in multiple sclerosis: A disease of the central nervous system, but with relapses triggered in the periphery? In the CSF, 939 probe sets detected differential expression in MS patients compared to controls, but none in PBMCs, confirming that CSF cells might mirror the disease processes. The regulation of selected transcripts in CSF of MS patients was confirmed by quantitative PCR. Unexpectedly however, when comparing MS patients in relapse to those in remission, 266 probe sets detected differential expression in PBMCs, but not in CSF cells, indicating the importance of events outside of the CNS in the triggering of relapse 19944761 Details
High throughput Homo sapiens MS N/A Developing a genomic-based point-of-care diagnostic system for rheumatoid arthritis and multiple sclerosis The microfluidic LOC device supplies the diagnostic component of the platform with a set of SNPs associated with the diseases and the ruled-based decision support system combines this genomic information with the clinical data of the patient to outcome the final diagnostic result. 19964246 Details
High throughput Homo sapiens MS CNR1 The cannabinoid receptor 1 gene (CNR1) and multiple sclerosis: an association study in two case-control groups from Spain Disease severity and progression was unrelated to AAT repeat variations. In conclusion, long (AAT) 13 CNR1 genotypes could behave as risk factors for PPMS 20007426 Details
High throughput Homo sapiens MS N/A MicroRNAs miR-17 and miR-20a Inhibit T Cell Activation Genes and Are Under-Expressed in MS Whole Blood We demonstrate that these miRNAs modulate T cell activation genes in a knock-in and knock-down T cell model. The same T cell activation genes are also up-regulated in MS whole blood mRNA, suggesting these miRNAs or their analogues may provide useful targets for new therapeutic approaches 20711463 Details
High throughput Homo sapiens MS HLA-DRB1 Aggregation of MS genetic risk variants in multiple and single case families MSGB analysis demonstrated a higher aggregation of susceptibility variants in multicase, compared to sporadic MS families. In addition, the aggregation of non-MHC SNPs depended neither on gender nor on the presence or absence of HLA-DRB1*15:01 alleles. Interestingly, while a greater MSGB in siblings of MS patients was associated with an increased risk of MS (OR=2.1, p=0.001), ROC curves of MSGB differences between probands and sibs (AUROC 0.57 [0.53; 0.61]) show that case-control status prediction of MS cannot be achieved with the currently available genetic data 21280076 Details
High throughput Homo sapiens MS CCR7 High-Resolution Expression Profiling of Peripheral Blood CD8+ Cells in Patients with Multiple Sclerosis Displays Fingolimod-Induced Immune Cell Redistribution Differentially expressed genes in response to therapy were identified by t test and fold change and analyzed for their functions and molecular interactions. No gene was expressed at significantly higher or lower levels 24 h after the first administration of fingolimod compared to baseline. However, after 3 months of therapy, 861 transcripts were found to be differentially expressed, including interleukin and chemokine receptors. Some of the genes are associated to the S1P pathway, such as the receptor S1P5 and the kinase MAPK1, which were significantly increased in expression. The fingolimodinduced transcriptome changes reflect a shift in the proportions of CD8+ T cell subsets, with CCR7- effector memory T cells being relatively increased in frequency in the blood of fingolimod-treated patients. In consequence, CCR7 mRNA levels were reduced by >80 % and genes involved in T cell activation and lymphocyte cytotoxicity were increased in expression. Gene regulatory programs caused by downstream S1P signaling had only minor effects. 27631876 Details
High throughput Homo sapiens MS ITGA2B, ITGB3, CD177, IGJ, IL5RA, MMP8, P2RY12, and S100β Identification of a gene expression signature in peripheral blood of multiple sclerosis patients treated with disease-modifying therapies Thus, we identified a peripheral gene signature associated with positive response in RR-MS which may also explain drug immunomodulatory effects. The usefulness of this signature as a biomarker needs confirmation on larger series of patients 27720845 Details
High throughput Homo sapiens MS VSE The Association Between Vitamin D and Multiple Sclerosis Risk: 1,25(OH)2D3 Induces Super-Enhancers Bound by VDR It is the first time that VSEs have been analyzed, and we directly connect the genetic risk factors for MS risk with Vitamin D based on VSEs. 30941131 Details
High throughput Homo sapiens MS N/A Early adaptive immune activation detected in monozygotic twins with prodromal multiple sclerosis In contrast to nonexpanded T cells, clonally expanded T cells showed characteristics of activated tissue-resident memory T (TRM) cells. The TRM-like phenotype was detectable already in cells from SCNI subjects but more pronounced in cells from patients with definite MS. Expanded plasmablast clones were detected only in MS and SCNI subjects with OCBs. Our data provide evidence for very early concomitant activation of 3 components of the adaptive immune system in MS, with a notable contribution of clonally expanded TRM-like CD8+ cells 31566584 Details
High throughput Homo sapiens MS PSMA1, MYC, SRPK1, YBX1, HNRNPM, NF-κB2, IKBKE, RAC1, FN1, ARRB2, ESR1, HSP90AB1, and PPP1CA Identification of common key genes and pathways between type 1 diabetes and multiple sclerosis using transcriptome and interactome analysis This study represented novel key genes and pathways shared between T1D and MS, which may facilitate the identification of potential therapeutic targets in these diseases 31912409 Details
High throughput Homo sapiens MS B-1a The novel multiple sclerosis susceptibility gene ATXN1 regulates B cell receptor signaling in B-1a cells we show that in this sub-population Atxn1 regulates immunoglobulin gene transcription and signaling through the B cell receptor (BCR) 33478569 Details
High throughput Homo sapiens MS WNT9B Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis Our findings imply that genetic variation within the Wnt signaling and vitamin D pathways contributes to differences in relapse occurrence. The present study highlights these cross-talking pathways as potential modulators of MS disease activity 33704824 Details
High throughput Homo sapiens MS、RIS DEGs Global transcriptome profiling in peripheral blood mononuclear cells identifies dysregulation of immune processes in individuals with radiologically isolated syndrome analyzing the global transcriptome we demonstrated the dysregulation of immune processes in PBMCs of RIS patients, confirming the current assumption that RIS represents the preclinical stage and/or subclinical form of MS 34954650 Details
High throughput Homo sapiens、samples of fresh frozen brain lesions obtained at early autopsy (1.5–4.0 h post mortem) from four MS patients MS N/A Gene-microarray analysis of multiple sclerosis lesions yields new targets validated in autoimmune encephalomyelitis Our investigation of MS brain tissue revealed several new targets for potential therapy. Modulating these targets can lead to amelioration of EAE 11984595 Details
High throughput Homo sapiens MS N/A Microsatellite Polymorphism in Haem Oxygenase 1 Gene Promoter in Multiple Sclerosis The observed absence of effect of the HMOX1 promoter (GT)n polymorphism could be attributed to its known dualistic role in the pathogenesis of autoimmune disorders. As a secondary outcome, we have seen that disease-modifying drugs have the potential to delay disability progression in patients with multiple sclerosis. 22578957 Details
High throughput Homo sapiens MS N/A Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation In line with this, score distributions among afected and unafected family members within individual families showed that known susceptibility alleles can explain disease development in some high-risk multiplex families, while in others, additional genetic contributors increase MS risk. 36216875 Details
High throughput Homo sapiens、Mus musculus EAE N/A Gene expression in oligodendrocytes during remyelination reveals cholesterol homeostasis as a therapeutic target in multiple sclerosis Olig1-RiboTag mice were used to determine the translatome of OLCs in vivo in corpus callosum during the remyelination phase of a chronic cuprizone model with axonal damage 31040210 Details
High throughput Homo sapiens MS N/A FAMILr AND POPULATION ANALYSIS OF MULTIPLE SCLEROSIS Relative risk estimates were obtained keeping in mind that these data are from multiplex families. None of the A locus alleles had significant positive relative risks though there is a statistically significant negative risk for the combined A antigens 34, 43, 66, 68, 69, and X which were not present in theaffected sibships 3471670 Details
High throughput Homo sapiens MS N/A A screen of candidates from peaks of linkage: evidence for the involvement of myeloperoxidase in multiple sclerosis In total, 41 alleles were tested, but only the 192 bp allele of the MPO marker showed evidence of statistically significant excess transmission. This result remains statistically significant after correcting for the tests performed but fails to reach a level indicating genomewide significance 10430054 Details
High throughput Homo sapiens MS N/A mtDNA haplogroup J: a contributing factor of optic neuritis In conclusion, we propose that mitochondrial haplotype may influence the phenotypic expression of the multiple sclerosis but not the occurrence of the disease itself. Our finding could reconcile the apparently contradictory results previously published on putative implication of mitochondrial DNA in MS. Indeed, ocular expression of LHON and MS could be influenced by the same mitochondrial genetics factors. We are now evaluating this hypothesis in a larger study, in order to confirm its statistical significance 10234520 Details
High throughput Homo sapiens MS N/A A Goodness-of-Fit Test for the Polygenic Threshold Model: Application to Multiple Sclerosis A total of 23 (“possible” = “normal”) or 27 (“possible” = “affected”) families of the 364 sibships contained at least two affected individuals. Table I11 lists the probability of observing this many or more families with multiple affected sibships under the polygenic threshold model for the selected values of II and h2. When the heritability value of 0.65 is used, the multifactorial model is rejected for all values of II irrespective of the clinical definition of the “possible” cases. All lower values for heritability are likewise rejected. 7234906 Details
High throughput Homo sapiens MS D11S4195 A genome-wide German screen for linkage disequilibrium in multiple sclerosis In conclusion, we have identified nine novel markers showing potential association with multiple sclerosis, including five from regions previously identified in linkage studies. 14575919 Details
High throughput Homo sapiens MS N/A HLA Haplotypes in Families With High Frequency of Multiple Sclerosis Healthy relatives of MS patients were often found to carry the same haplotype as the affected members, which makes an estimate of the degree of penetrance of disease in individuals carrying the MS\x=req-\ predisposing MHS-linked gene possible. 999543 Details
High throughput Homo sapiens MS N/A Cis acting expression loci in multiple sclerosi In conclusion, we have found no evidence that the variants we have tested from these functionally important and immunologically relevant loci influence susceptibility to multiple sclerosis. However, we cannot confidently exclude these genes as potential candidate susceptibility genes as it is possible that other variants within or near to these genes might influence susceptibility to multiple sclerosis. 15833354 Details