rs7453920

This variant is located in the HLA-DQB2 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chronic hepatitis B virus infection

Jiang DK et al. “Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B” Hepatology (2015)
Allele A
OR 2.00
p 1.0e-60
N 3,644
Large GWAS
East Asian
Chang SW et al. “A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Taiwanese.” Plos One 9(6):e99724 (2014)
Allele A
OR 2.31
p 7.0e-15
N 625
Small GWAS
East Asian

hepatitis B virus infection

Hu Z et al. “New loci associated with chronic hepatitis B virus infection in Han Chinese.” Nature Genetics 45(12):1499-503 (2013)
Allele G
OR 1.89
p 5.0e-37
N 1,888
Large GWAS
East Asian
Mbarek H et al. “A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.” Human Molecular Genetics 20(19):3884-92 (2011)
Allele G
OR 1.81
p 6.0e-28
N 2,514
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Cancer risk in chronic hepatitis B: Do genome-wide association studies hit the mark?
ReviewMarkus Casper et al.(2011)· Hepatology

This review synthesizes genome-wide association studies (GWAS) identifying host genetic factors affecting hepatitis B virus (HBV) infection outcomes. HBV persistence is predominantly associated with HLA genes (HLA-DP, HLA-DQ, HLA-C with OR 0.46-2.31) and immune-related genes including CFB, NOTCH4, CD40, UBE2L3, TCF19, and EHMT2. HBV persistence and hepatitis B vaccine nonresponse share overlapping genetic bases with HLA variants, while genetic risk factors for advanced liver diseases (cirrhosis, hepatocellular carcinoma) are largely distinct.

Traits studied:Chronic hepatitis B infectionHBV-related advanced liver diseaseHepatitis B vaccine nonresponseHepatitis B vaccine responseHepatitis B virus persistenceHepatocellular carcinomaLiver cirrhosis
PubMedDOIMetascience Observatory

About HLA-DQB2

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]

View all HLA-DQB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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