rs208290

This is a intron variant variant in the P2RX7 gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4
Meta-analysisN=41,996Ma RC et al.(2013)· Diabetologia

A genome-wide association study meta-analysis of 684 type 2 diabetes cases and 955 controls in Southern Han Chinese identified rs10229583 at 7q32 near PAX4 as a novel susceptibility locus. The risk allele (G) showed genome-wide significance in a combined analysis of 11,067 cases and 7,929 controls (p=2.6×10⁻⁸; OR [95% CI] 1.18 [1.11, 1.25]) and was consistently associated across East Asian populations (p=2.3×10⁻¹⁰; OR 1.14 [1.09, 1.19]) with evidence of replication in European descent populations (p=8.6×10⁻³). The variant was associated with elevated fasting plasma glucose, impaired beta cell function, and earlier age at diabetes diagnosis.

Traits studied:Age at diagnosisBeta cell functionFasting plasma glucoseType 2 diabetes
PubMedDOIMetascience Observatory

About P2RX7

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]

View all P2RX7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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