Basic information of VDR :
| Official Symbol of Gene | VDR |
| Species | Homo sapiens |
| Entrez Gene ID | 7421 |
| Official Full Name | vitamin D receptor |
| Also known as | NR1I1; PPP1R163 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111424 MIM:601769; AllianceGenome:HGNC:12679 |
| Map Location | 12q13.11 |
| Variation Type | SNP |
| refSNP ID | rs731236 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood mononuclear cells (PBMC) |
| Sample Detail | N/A |
| Detected Method | flow-cytometry analysis |
| Disease | MS |
| Disease subtype | RRMS,PPMS |
| Population | Caucasian-Italians |
| Sample Size | 641 MS patients (187 -DRB1*15+ and 454 -DRB1*15) / 558 HC (197 -DRB1*15+ and 361 -DRB1*15) |
Literature information of multiple sclerosis :
| Pubmed ID | 21664963 |
| Year | 2011 |
| Title | Vitamin D receptor (VDR) gene SNPs influence VDR expression and modulate protection from multiple sclerosis in HLA-DRB1*15-positive individuals |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | 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. |
| Mechanism/Pathway | The lack of variants in the VDRE sequence of the HLADRB115 allele led to the speculation that the augmented risk of MS seen in HLA-DRB115 carriers could be secondary to its transcription regulation through the VDR/(1,25(OH)2D) complex. |
