rs1071630

This is a variant in the HLA-DQA1 gene that changes a phenylalanine to an serine.

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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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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (2)

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Association of HLA‐DQA1 gene polymorphisms with the risk of children primary nephrotic syndrome in Chinese population
AssociationN=1,033Bingbing Zhu et al.(2019)· Journal of Clinical Laboratory Analysis

A case-control study of 501 children with primary nephrotic syndrome (PNS) and 532 healthy controls from the Chinese Han population identified two HLA-DQA1 missense SNPs significantly associated with PNS risk: rs1129740 (GG vs AA, OR=1.987, 95% CI=1.468-2.652, P=0.00177) and rs1047992 (AA vs GG, OR=1.857, 95% CI=1.325-2.391, P=1.11E-10). The results suggest HLA-DQA1 polymorphisms contribute to PNS susceptibility in Chinese children through an immune-mediated mechanism.

Traits studied:Childhood-onset steroid-sensitive nephrotic syndrome (SSNS)Primary nephrotic syndrome (PNS)
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-DQA1

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), 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. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]

View all HLA-DQA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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