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 | rs2228570 (Fok1) |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | TaqMan SNP genotyping assays |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS |
| Population | UK, Australia |
| Sample Size | 1153 trio families / 726 cases / 604 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 21816760 |
| Year | 2012 |
| Title | Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | 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. |
| Mechanism/Pathway | 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. |
