rs2230911

This is a protein-altering variant in the P2RX7 gene.

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Research that mentions this SNP (2)

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Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population
AssociationN=749Ying Ying et al.(2017)· Rheumatology International

Association study of P2RX7 gene polymorphisms in a Chinese Han male population revealed that rs2230911 is associated with primary gout risk, with allele G conferring increased susceptibility (OR=1.755, 95% CI 1.278-2.410, P<0.001). The study examined 293 primary gout patients, 187 hyperuricemia patients, and 269 healthy controls using SNaPshot genotyping of seven P2RX7 SNPs, finding that rs2230911-G variant carriers also showed higher blood glucose and uric acid levels.

Traits studied:Blood glucose levelsHyperuricemiaPrimary goutUric acid levels
PubMedDOIMetascience Observatory
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Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients
AssociationN=921Wesselius A. et al.(2013)· Osteoporosis International

Association study of 15 non-synonymous P2X7 receptor polymorphisms in 921 Dutch fracture patients (690 women, 231 men) found that the Ala348Thr gain-of-function variant was associated with increased lumbar spine BMD (p=0.012), while loss-of-function variants Glu496Ala and Gly150Arg were associated with decreased hip and lumbar spine BMD (p=0.018, p=0.011 respectively), and in men, Gln460Arg was associated with 40% decreased osteoporosis risk (OR=0.58 [95%CI, 0.33-1.00]).

Traits studied:Bone mineral densityOsteopeniaOsteoporosis
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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