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 |
Sample information of multiple sclerosis:
| Detected Sample | Peritoneal macrophages |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | N/A |
| Sample Size | Patients and controls Fifty unrelated patients (age: 19–71; M/F ratio: 1:2.1) with relapsing–remitting type of MS |
Literature information of multiple sclerosis :
| Pubmed ID | 27049563 |
| Year | 2016 |
| Title | Vitamin D receptor biochemical and genetic profiling and HLA-class II genotyping among Lebanese with multiple sclerosis — A pilot study |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | Healthy and non-MS groups had comparable parameters and were combined into one control group. No significant differences were found between MS and control groups for VDR genotypes. The frequency of HLADRB1*15 was significantly higher in MS patients (22%) compared to controls (8%) (p = 0.018). Odds ratio for MS in the presence of DRB1*15 allele was 3.21 (p = 0.018). Cosegregation with A (ApaI) and b (BsmI) alleles did not influence the risk for MS. 25OHD levels were significantly higher in MS patients compared to controls (p = 0.002), due to more frequent oral supplementation (p = 0.005). Vitamin A levels were comparable between the two groups. When all parameters were included in a logistic regression model adjusted for supplementation, only HLA-DRB1*15 (OR = 3.42; p = 0.027) contributed significantly to MS risk.There was no association between serum vitamin D or A or VDR genotypes and MS. HLA-DRB1*15 was the major factor imposing more than 3 folds greater risk for developing MS among Lebanese |
| Mechanism/Pathway | the presence of a VDR element (VDRE) in the proximal promoter region of the HLA-DRB1 gene. VDREs present a multitude of sequence variations and a spectrum of binding affinities for VDR; this variability enables VDREs to respond optimally to different concentrations of the VDR/1,25(OH)2D |
