rs9277378

This variant is located in the HLA-DPA1 gene.

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GWAS Catalog Trait Associations (1)

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

extranodal nasal NK/T cell lymphoma

Li Z et al. “Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study.” The Lancet. Oncology 17(9):1240-7 (2016)
Allele A
OR 1.84
p 4.0e-19
N 1,146
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Different patterns of associations with anti–citrullinated protein antibody–positive and anti–citrullinated protein antibody–negative rheumatoid arthritis in the extended major histocompatibility complex region
AssociationN=4,284Bo Ding et al.(2009)· Arthritis &amp; Rheumatism

This genome-wide association study (GWAS) of the major histocompatibility complex (MHC) region identified 299 SNPs reaching locus-wide significance (P < 2.3 × 10⁻⁵) for anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis (RA). After adjusting for HLA-DRB1 shared epitope alleles, HLA-DPB1 emerged as an independent risk locus with rs3117213 showing the strongest association (odds ratio 1.42, 95% CI 1.17–1.73, P = 0.0003). No significant MHC associations were found for ACPA-negative RA, indicating distinct genetic patterns between the two disease subsets.

Traits studied:Anti-citrullinated protein antibodiesRheumatoid arthritis (ACPA-negative)Rheumatoid arthritis (ACPA-positive)
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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