rs3077

This is a 3 prime utr variant variant in the HLA-DPA1 gene.

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GWAS Catalog Trait Associations (3)

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

hepatitis B virus infection

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 1.87
p 2.0e-61
N 2,514
Large GWAS
East Asian
Nishida N et al. “Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.” Plos One 7(6):e39175 (2012)
Allele G
OR 1.67
p 1.0e-9
N 550
Small GWAS
East Asian
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Research that mentions this SNP (4)

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Relationship between HLA‐DPA1 genetic polymorphism and anembryonic pregnancy
AssociationN=190Zhendong Wang et al.(2020)· Molecular Genetics &amp; Genomic Medicine

A case-control association study in a Chinese Han population (68 cases, 122 controls) identified HLA-DPA1 rs1431403 as a risk factor for anembryonic pregnancy. Homozygous genotypes (CC and TT) significantly increased anembryonic pregnancy risk (ORCC=3.13, 95% CI: 1.50-6.53; ORTT=2.96, 95% CI: 1.31-6.66; ORCC+TT=3.06, 95% CI: 1.62-5.78, p<0.01), and were associated with elevated HLA-DPA1 protein expression levels.

Traits studied:Anembryonic pregnancyBlighted ovumEarly pregnancy loss
PubMedDOIMetascience Observatory
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Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis
AssociationN=3,293Xie G. et al.(2013)· Arthritis &amp; Rheumatism

This genome-wide association study identified genetic determinants of granulomatosis with polyangiitis (GPA/Wegener's) in 987 cases and 2,731 controls. HLA-DPB1*04 and HLA-DPA1 variants accounted for 32 significant SNP associations in the HLA region, with peak signals at rs9277554 (HLA-DPB1) and rs9277341 (HLA-DPA1). An independent association was found at rs26595 near SEMA6A on chromosome 5, confirming the critical role of immunogenetic factors in GPA susceptibility.

Traits studied:ANCA-associated vasculitisEosinophilic granulomatosis with polyangiitisGranulomatosis with Polyangiitis (GPA)Microscopic polyangiitisWegener's granulomatosis
PubMedDOIMetascience Observatory
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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
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Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
PubMedDOIMetascience Observatory

About HLA-DPA1

HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays 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). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

View all HLA-DPA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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