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 | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | Sardinians |
| Sample Size | 44patients/112 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 22848563 |
| Year | 2012 |
| Title | Vitamin D Responsive Elements within the HLA-DRB1 Promoter Region in Sardinian Multiple Sclerosis Associated Alleles |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | 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. |
| Mechanism/Pathway | Vitamin D response elements (VDREs) have been found in the promoter region of the MS-associated allele HLA-DRB1*15:01,suggesting that with low vitamin D availability VDREs are incapable of inducing *15:01 expression allowing in early life autoreactive T-cells to escape central thymic deletion. |
