rs1042151
This is a protein-altering variant in the HLA-DPA1 gene.
▶Research that mentions this SNP (1)
▶Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean populationAssociationN=1,940Byung Lae Park et al.(2013)· Human Genetics
Genome-wide association study identifying HLA-DPB1 rs1042151 (Met105Val) as the most significant genetic variant associated with aspirin-exacerbated respiratory disease (AERD) in Korean asthmatics (p = 5.11 × 10−7; OR = 2.40). The variant also showed significant gene-dose effects on FEV1 decline following aspirin challenge (p = 2.82 × 10−7), confirming HLA-DPB1 as a key susceptibility locus for AERD.
About HLA-DPA1
HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, 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 and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
View all HLA-DPA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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