rs2071349

This variant is located in the HLA-DPA1 gene.

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Research that mentions this SNP (2)

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Relationship between HLA‐DPA1 genetic polymorphism and anembryonic pregnancy
AssociationN=190Zhendong Wang et al.(2020)· Molecular Genetics & 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
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MHC region and risk of systemic lupus erythematosus in African American women
AssociationN=1,145Ruiz-Narvaez EA et al.(2011)· Human Genetics

Case-control study in 380 African-American SLE cases and 765 controls identified four independent SNPs in the MHC region associated with systemic lupus erythematosus. The strongest signal was rs9271366 (OR=1.70, p=5.6×10⁻⁵) near HLA-DRB1, with conditional analysis revealing three additional independent variants: rs204890 (OR=1.86, p=1.2×10⁻⁴) in ATF6B, rs2071349 (OR=1.53, p=1.0×10⁻³) in HLA-DPB1, and rs2844580 (OR=1.43, p=1.3×10⁻³) near HLA-B/MICA. A combined genotype score showed additive risk with OR=1.67 per high-risk allele (p<0.0001).

Traits studied:SLE with abnormal antinuclear antibody titersSLE with arthritisSLE with hematologic disorderSLE with immunologic disorderSLE with renal disorderSLE with serositisSLE with skin manifestationsSystemic lupus erythematosus
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.

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