rs3781913

This is a downstream gene variant variant in the PDE2A gene.

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GWAS Catalog Trait Associations (1)

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

rheumatoid arthritis

Okada Y et al. “Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.” Nature Genetics 44(5):511-6 (2012)
Allele T
OR 1.12
p 6.0e-10
N 20,965
Meta-analysisLarge GWAS
East Asian
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Research that mentions this SNP (1)

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PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population
AssociationN=1,141Chikashi Terao et al.(2013)· Arthritis &amp; Rheumatism

This case-control study identified PLD4 as a novel susceptibility gene for systemic sclerosis (SSc) in a Japanese population, with rs2841277 showing significant association (P=0.00017, OR=1.25). The study also confirmed associations between SSc and rs6932056 in TNFAIP3 (P=0.0000095, OR=1.50) and rs2280381 in IRF8 (P=0.0030, OR=1.26). rs2841280 in PLD4 exon 2 was found in strong linkage disequilibrium with rs2841277 and introduces an amino acid change (E27Q).

Traits studied:Diffuse cutaneous systemic sclerosis (dcSSc)Limited cutaneous systemic sclerosis (lcSSc)Systemic sclerosis
PubMedDOIMetascience Observatory

About PDE2A

Enables several functions, including 3',5'-cyclic-nucleotide phosphodiesterase activity; anion binding activity; and metal ion binding activity. Involved in several processes, including cellular response to cytokine stimulus; regulation of signal transduction; and regulation of vascular permeability. Located in several cellular components, including cytosol; mitochondrial membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PDE2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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