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 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | real-time PCR using TaqMan probes |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Caucasian origin from southern Spain |
| Sample Size | 209 patients/836 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 33044390 |
| Year | 2021 |
| Title | Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | TT genotype for VDR FokI (rs2228570) polymorphism was associated with higher risk of MS (P = 0.0150; OR = 1.82; 95% CI = 1.12-2.94; TT vs. CT + CC). |
| Mechanism/Pathway | Vitamin D metabolism |
