rs12722051
This is a protein-altering variant in the HLA-DQA1 gene.
▶Research that mentions this SNP (1)
▶Association of HLA‐DQA1 gene polymorphisms with the risk of children primary nephrotic syndrome in Chinese populationAssociationN=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.
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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