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 | rs2225870 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS, SPMS, PPMS |
| Population | Turkish |
| Sample Size | 271 MS patients / 203 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 36880035 |
| Year | 2023 |
| Title | Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Distribution of Fok-I polymorphisms in the MS and control groups differ significantly in dominant, heterozygote, and homozygote inheritance models.There were significant differences of Fok-I polymorphism allele frequencies across MS/MS subtype group and the control group. |
| Mechanism/Pathway | Variants in the vitamin D receptor (VDR) gene affect MS susceptibility by the way of changing the interaction of VDRE on the MHC regulatory region. Several studies indicate that the VDR gene polymorphisms are associated with susceptibility to MS. Furthermore, these polymorphisms in the VDR gene may change the vitamin D serum levels, vitamin D structure, and function as such with an immune modulatory effect; these are the mechanisms of the vitamin D and VDR complex. |
