rs987870

This is a regulatory region variant variant in the HLA-DPA1 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

asthma

Noguchi E et al. “Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations.” Plos Genetics 7(7):e1002170 (2011)
Allele C
OR 1.40
p 2.0e-10
N 3,314
Large GWAS
East Asian
▶

Research that mentions this SNP (2)

▶
Relationship between HLA‐DPA1 genetic polymorphism and anembryonic pregnancy
AssociationN=190Zhendong Wang et al.(2020)· Molecular Genetics &amp; Genomic Medicine

A case-control association study in a Chinese Han population (68 cases, 122 controls) identified HLA-DPA1 rs1431403 as a risk factor for anembryonic pregnancy. Homozygous genotypes (CC and TT) significantly increased anembryonic pregnancy risk (ORCC=3.13, 95% CI: 1.50-6.53; ORTT=2.96, 95% CI: 1.31-6.66; ORCC+TT=3.06, 95% CI: 1.62-5.78, p<0.01), and were associated with elevated HLA-DPA1 protein expression levels.

Traits studied:Anembryonic pregnancyBlighted ovumEarly pregnancy loss
PubMedDOIMetascience Observatory
▶
Association of Granulomatosis With Polyangiitis (Wegener's) With HLA–DPB1*04 and SEMA6A Gene Variants: Evidence From Genome‐Wide Analysis
AssociationN=3,293Xie G. et al.(2013)· Arthritis &amp; Rheumatism

This genome-wide association study identified genetic determinants of granulomatosis with polyangiitis (GPA/Wegener's) in 987 cases and 2,731 controls. HLA-DPB1*04 and HLA-DPA1 variants accounted for 32 significant SNP associations in the HLA region, with peak signals at rs9277554 (HLA-DPB1) and rs9277341 (HLA-DPA1). An independent association was found at rs26595 near SEMA6A on chromosome 5, confirming the critical role of immunogenetic factors in GPA susceptibility.

Traits studied:ANCA-associated vasculitisEosinophilic granulomatosis with polyangiitisGranulomatosis with Polyangiitis (GPA)Microscopic polyangiitisWegener's granulomatosis
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…