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 | rs7975232 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | N/A |
| Population | Iranian |
| Sample Size | 113 MS patients,122 unrelated healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 25685788 |
| Year | 2015 |
| Title | Positive association of vitamin D receptor gene variations with multiple sclerosis in South East Iranian population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | 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. |
| Mechanism/Pathway | Although we could not yet definitely emphasize the role of polymorphisms on VDR function, consider that the variation in vitamin D receptor may affect the ligandreceptor affinity or signaling pathway or gene expression and so indirectly affect the function of vitamin D. |
