rs1048372

This is a protein-altering variant in the HLA-DQA1 gene.

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GWAS Catalog Trait Associations (2)

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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Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open‐angle glaucoma
AssociationN=2,500Mohd Hussain Shah et al.(2017)· Molecular Genetics &amp; Genomic Medicine

This study examined SIX6 genetic variants in South Indian POAG patients and identified two known common variants (rs33912345: c.421A>C, OR=0.919, p=0.3888; rs10483727/rs1048372, p=0.5879) and a novel 4 bp deletion in the SIX6 retinal enhancer (Chr14:60974427-60974430). While the SNPs showed no significant disease association in the South Indian cohort, patients carrying the risk alleles exhibited dose-dependent reductions in retinal nerve fiber layer thickness and increased vertical cup-disc ratio (p=0.012 and p=0.009 respectively). Functional studies via zebrafish transgenesis and luciferase assays demonstrated that the 4 bp deletion impaired enhancer activity, suggesting SIX6 haploinsufficiency may contribute to POAG pathogenesis.

Traits studied:Primary open-angle glaucomaRetinal nerve fiber layer thicknessVertical cup-disc ratio
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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