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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 methylation-mediated SNP
refSNP ID rs9267649

Sample information of multiple sclerosis:

Detected Sample PBMC
Sample Detail N/A
Detected Method MSRE-qPCR
Disease MS
Disease subtype N/A
Population Scandinavian
Sample Size 8172 cases / 13263 controls

Literature information of multiple sclerosis :

Pubmed ID 29921915
Year 2018
Title DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result rs9267649 displayed a genome-wide significant association with MS with a similar protective effect in all cohorts .
Mechanism/Pathway Genetic variants in the loci encoding epigenetic machinery genes have been associated with MS suggesting a role for epigenetic mechanisms in disease pathology.