rs378352

This is a synonymous variant in the HLA-DOA gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

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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-DOA

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]

View all HLA-DOA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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