Basic information of HLA-DRB1 :
| Official Symbol of Gene | HLA-DRB1 |
| Species | Homo sapiens |
| Entrez Gene ID | 3123 |
| Official Full Name | major histocompatibility complex, class II, DR beta 1 |
| Also known as | SS1; DRB1; HLA-DRB; HLA-DR1B |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000196126 MIM:142857; AllianceGenome:HGNC:4948 |
| Map Location | 6p21.32 |
| Variation Type | HLA-DRB1 * 04 / * 07 |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | N/A |
| Sample Size | 466 MS cases and 498 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 22786591 |
| Year | 2012 |
| Title | Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | Incorporating these results in an analysis of MS risk, we identified a strong protective effect of HLA-DRB1*04, *07, and *09 (DR53) alleles (p = 10(-12)) and elevated risk associated with DRB1*15 and *16 (DR51) and *08 (DR8) alleles (p < 10(-18)). |
| Mechanism/Pathway | An independent contribution of VDRE motif variation to increase MS risk was not discernible, although vitamin D-dependent regulation of HLA-DR expression may still play an important role given that HLA-DRB1*04/*07/*09 (DR53) alleles that express the "nonresponsive" VDRE motif were associated with significantly reduced risk of MS. |
