rs1140343

This is a synonymous variant in the HLA-DQB1 gene — it does not change the protein's amino acid sequence.

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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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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

About HLA-DQB1

HLA-DQB1 belongs to the HLA class II beta chain paralogs. This 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 beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

View all HLA-DQB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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