rs9272535

This is a regulatory region variant variant in the HLA-DQA1 gene.

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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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Search for schizophrenia susceptibility variants at the HLA-DRB1 locus among a British population
AssociationN=487Lorna Halley et al.(2013)· Immunogenetics

A candidate gene association study of HLA-DRB1 tagging SNPs in schizophrenia among 332 British cases (219 male, 113 female; mean age 32-36 years) and 155 controls (mean age 40-42 years) recruited through family-based (132 trios, 92 duos) and case-control designs. The DRB1*1303 allele showed marginal protective association (OR=0.42, 95% CI 0.27-0.66, χ²=4.138, P=0.042), and rs424232 showed significant protective association with schizophrenia (OR=0.69, 95% CI 0.54-0.88, χ²=9.404, P=0.002). The authors failed to confirm association of candidate DRB1 risk alleles but noted the association signal may extend beyond the HLA locus toward the NOTCH4 gene.

Traits studied:Schizophrenia
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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