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 | SNP |
| refSNP ID | HLA-DRB1*1501, DRB1*04, DQB1*02,DQB1*0302, DQB1*0602 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR-SSOP |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | Sicilian,US,Barcelona/Menorca,France |
| Sample Size | 1392 cases |
Literature information of multiple sclerosis :
| Pubmed ID | 15668443 |
| Year | 2005 |
| Title | The HLA locus and multiple sclerosis in Sicily |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Evidence for excess transmission to affected individuals was observed for HLA-DRB1*1501, DRB1*04, DQB1*02, and DQB1*0302 alleles, but not for DQB1*0602 using PDT or TRANSMIT.When HLA alleles were analyzed as haplotypes, we observed an excess transmission for the DRB1*0400, DQB1*0302 haplotype. The DR2 haplotype (DRB1*1501, DQB1*0602) was borderline significant. DRB1*1501, X and DRB1*04, X haplotypes were also examined, where X was not DQB1*0602 or *0302.Both haplotypes displayed suggestive evidence for over-transmission, providing additional support for a primary DRB1 effect. However, these results were not significant. The DR3 haplotype was negative. As observed in other populations,HLA-DR3 confers low relative risk.The effect of HLA on age at onset, initial symptom, disease course, and endpoints of clinical severity was evaluated in patients stratified by the presence or absence of DRB1*1501 or DRB1*04. No significant effect of DRB1 was present. |
| Mechanism/Pathway | N/A |
