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 | real-time PCR |
| 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 | 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. |
| 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. |
