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 | polymorphisms |
| refSNP ID | Fok I (rs2228570) |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | venous blood |
| Detected Method | Real-Time PCR |
| Disease | MS |
| Disease subtype | PPMS, SPMS, RRMS |
| Population | Turkish |
| Sample Size | 29 patients with a family history of MS and 120 healthy control subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 29416220 |
| Year | 2018 |
| Title | Analysis of Vitamin D Receptor Polymorphisms in Patients with Familial Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | There were no significant association for the Apa I and Fok I polymorphisms. |
| Mechanism/Pathway | Specific variants of the VDR gene are associated with alterations in vitamin D function and metabolism |
