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 | haplotype |
| refSNP ID | HLA-DRB1*15:01 haplotype |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | Real Time PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Basque, Spaniards |
| Sample Size | 364 MS patients / 513 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 22127897 |
| Year | 2012 |
| Title | HLA-DRB1*15:01 and multiple sclerosis: a female association? |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Our data confirms that the *15:01 haplotype confers a higher risk of suffering from MS. Sex confers a much stronger modulation and the *15:01-MS association seems to be female specific. |
| Mechanism/Pathway | The pathogenic mechanisms of the disease are not yet clearly identified; however, one proposal is an activation of the lymphocytes that cross the blood–brain barrier (BBB) directly into the interstitial matrix. T cells are then reactivated by fragments of the myelin antigens exposed in the context of human leukocyte antigen (HLA) molecules of the surface of the antigen presenting cells. |
