Gene: HLA-DQA1

Alternate names for this Gene: CELIAC1|DQ-A1|DQA1|HLA-DQA

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: major histocompatibility complex, class II, DQ alpha 1

Type of Gene: protein-coding

rs9272346 in HLA-DQA1 gene and Adult onset asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs146668528 in HLA-DQA1 gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs146668528 in HLA-DQA1 gene and Asthma PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 30578877 2019 Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults.

PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 27130862 2016 Identification of a new locus at 16q12 associated with time to asthma onset.

PMID 23181788 2012 Of these, a common polymorphism (rs9272346) localizing to within 1 Kb of HLA-DQA1 (chromosome 6p21.3) was associated with asthma in adults (P-value = 2.2E-08) with consistent evidence in the more heterogeneous group of adults and children (P-value = 1.0E-04).

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

rs200930495 in HLA-DQA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs9272143 in HLA-DQA1 gene and Cervix carcinoma PMID 28806749 2017 Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.

PMID 23482656 2013 Three independent loci in the major histocompatibility complex (MHC) region at 6p21.3 were associated with cervical cancer: the first is adjacent to the MHC class I polypeptide-related sequence A gene (MICA) (rs2516448; OR = 1.42, 95% CI = 1.31 to 1.54; P = 1.6×10(-18)); the second is between HLA-DRB1 and HLA-DQA1 (rs9272143; OR = 0.67, 95% CI = 0.62 to 0.72; P = 9.3×10(-24)); and the third is at HLA-DPB2 (rs3117027; OR=1.25, 95% CI = 1.15 to 1.35; P = 4.9×10(-8)).

rs115443066 in HLA-DQA1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs9272346 in HLA-DQA1 gene and Childhood asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs1391371 in HLA-DQA1 gene and Chronic sinusitis PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

rs9272219 in HLA-DQA1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs115151282 in HLA-DQA1 gene and Creatinine measurement, serum (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs17211510 in HLA-DQA1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

PMID 18978792 2008 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

PMID 17554300 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

rs3104369 in HLA-DQA1 gene and Epstein-Barr Virus Infections PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs116041786 in HLA-DQA1 gene and Immunoglobulin A deficiency (disorder) PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs2040406 in HLA-DQA1 gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

PMID 22807686 2012 GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.

rs9272219 in HLA-DQA1 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs2040406 in HLA-DQA1 gene and Multiple Sclerosis PMID 20453840 2010 Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

PMID 27386562 2016 Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs9272346 in HLA-DQA1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1391371 in HLA-DQA1 gene and Nasal Polyps PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

rs2040406 in HLA-DQA1 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 26272072 2016 An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 21653640 2011 Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways.

rs114549185 in HLA-DQA1 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

rs115443066 in HLA-DQA1 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

PMID 19571809 2009 Common variants on chromosome 6p22.1 are associated with schizophrenia.

rs116041786 in HLA-DQA1 gene and Selective immunoglobulin A deficiency PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs17211510 in HLA-DQA1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs13214992 in HLA-DQA1 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs9272143 in HLA-DQA1 gene and cervical cancer PMID 23482656 2013 Three independent loci in the major histocompatibility complex (MHC) region at 6p21.3 were associated with cervical cancer: the first is adjacent to the MHC class I polypeptide-related sequence A gene (MICA) (rs2516448; OR = 1.42, 95% CI = 1.31 to 1.54; P = 1.6×10(-18)); the second is between HLA-DRB1 and HLA-DQA1 (rs9272143; OR = 0.67, 95% CI = 0.62 to 0.72; P = 9.3×10(-24)); and the third is at HLA-DPB2 (rs3117027; OR=1.25, 95% CI = 1.15 to 1.35; P = 4.9×10(-8)).