Home Details
| 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 | allele |
| refSNP ID | *1501,*0301,*0701,*1104,*0102 |
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | Caucasian |
| Sample Size | 252 patients/ |
| Pubmed ID | 20884011 |
| Year | 2011 |
| Title | Spinal cord involvement in multiple sclerosis: a correlative MRI and high-resolution HLA-DRB1 genotyping study |
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | DRB1*1501 is associated with diffuse lesions.DRB1*1501 homozygosity was significantly more likely in cases with diffuse lesions than non-carriage of DRB1*1501 or DRB1*1501 heterozygosity and the proportion of cases with diffuse lesions was higher amongst heterozygous DRB1*1501 carriers.Among those with focal lesions carriage of DRB1*1104 was associated with higher total numbers of lesions.In multivariable analysis DRB1*0701 and DRB1*1104mwere independently associated with higher total lesion numbers compared with carriage of other alleles.DRB1*1501 and DRB1*1101 were significantly associated with greater lesion length.When combined to the 2 digit DRB1*11, there was a significant association between this allele group and lesion length .DRB1*0102,DRB1*0103 and DRB1*1104 were separately associated with numbers of thoracic cord lesions,DRB1*0103 with reduced numbers and the other alleles with increased numbers. DRB1*1104 was positively associated with thoracic cord lesion numbers and DRB1*0103 negatively correlated. |
| Mechanism/Pathway | The biological mechanisms which underlie these effects remain speculative but may be due to regional differences in the levels of expression of MHC Class II antigens and the presentation of myelin antigens to the immune system. |

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