Details

Home Details


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 allele
refSNP ID *1501,*0301,*0701,*1104,*0102

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS,PPMS,SPMS
Population Caucasian
Sample Size 252 patients/

Literature information of multiple sclerosis :

Pubmed ID 20884011
Year 2011
Title Spinal cord involvement in multiple sclerosis: a correlative MRI and high-resolution HLA-DRB1 genotyping study

Results of multiple sclerosis :

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.