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Non-synonymous polymorphisms in the P2RX ( 4 ) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.


ABSTRACT: In the present study we investigated whether single nucleotide polymorphisms (SNPs) in the P2RX ( 4 ), which alter the P2X ( 4 ) R function, are associated with the development of osteoporosis and whether an interaction between the P2X ( 4 ) R and P2X ( 7 ) R confer a synergistic effect of these two receptors on osteoporosis risk. Patients with fracture (690 females and 231 males, aged ?50 years) were genotyped for three non-synonymous P2X ( 4 ) R SNPs. Bone mineral density (BMD) was measured at the total hip, lumbar spine, and femoral neck. Subject carrying the variant allele of the Tyr315Cys polymorphism showed a 2.68-fold (95 % CI, 1.20-6.02) higher risk of osteoporosis compared with wild-type subject. Furthermore, significant lower lumbar spine BMD values were observed in subjects carrying the Cys315 allele as compared with wild-type (0.85?±?0.17 and 0.93?±?0.17 g/cm(2), respectively; p?

SUBMITTER: Wesselius A 

PROVIDER: S-EPMC3568421 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Non-synonymous polymorphisms in the P2RX ( 4 ) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Wesselius Anke A   Bours Martijn Jl MJ   Jørgensen Niklas R NR   Wiley James J   Gu Ben B   van Helden Svenjhalmar S   van Rhijn Lodewijk L   Dagnelie Pieter C PC  

Purinergic signalling 20121110 1


In the present study we investigated whether single nucleotide polymorphisms (SNPs) in the P2RX ( 4 ), which alter the P2X ( 4 ) R function, are associated with the development of osteoporosis and whether an interaction between the P2X ( 4 ) R and P2X ( 7 )  ...[more]

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