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 | N/A |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | N/A |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 214 MS patients / 428 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 20007432 |
| Year | 2010 |
| Title | Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | VDR genotypes were not associated with MS risk. |
| Mechanism/Pathway | The metabolism of vitamin D is carried out through a series of hydroxylation reactions in the liver and kidneys catalyzed by members of the cytochrome p450 family. The primary bioactive metabolite 1,25(OH)2D exerts its effect through association with the vitamin D receptor (VDR), which is found on a variety of cell types, including cells in the immune system.It is plausible that genes that are involved in vitamin D metabolism, transport or activity may be related to risk of MS or modify the association between environmental or dietary exposure to MS. |
