rs16950860
This variant is located in the P2RX7 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patientsAssociationN=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]).
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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