Association of P2Y2 receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patientsReport as inadecuate

Association of P2Y2 receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients - Download this document for free, or read online. Document in PDF available to download.

Purinergic Signalling

, Volume 9, Issue 1, pp 41–49

First Online: 08 July 2012Received: 10 April 2012Accepted: 21 June 2012DOI: 10.1007-s11302-012-9326-3

Cite this article as: Wesselius, A., Bours, M.J.L., Henriksen, Z. et al. Purinergic Signalling 2013 9: 41. doi:10.1007-s11302-012-9326-3


The P2Y2 receptor is a G-protein-coupled receptor with adenosine 5′-triphosphate and UTP as natural ligands. It is thought to be involved in bone physiology in an anti-osteogenic manner. As several non-synonymous single nucleotide polymorphisms SNPs have been identified within the P2Y2 receptor gene in humans, we examined associations between genetic variations in the P2Y2 receptor gene and bone mineral density BMD i.e., osteoporosis risk, in a cohort of fracture patients. Six hundred and ninety women and 231 men aged ≥50 years, visiting an osteoporosis outpatient clinic at Maastricht University Medical Centre for standard medical follow-up after a recent fracture, were genotyped for three non-synonymous P2Y2 receptor gene SNPs. BMD was measured at three locations total hip, lumbar spine, and femoral neck using dual-energy X-ray absorptiometry. Differences in BMD between different genotypes were tested using analysis of covariance. In women, BMD values at all sites were significantly different between the genotypes for the Leu46Pro polymorphism, with women homozygous for the variant allele showing the highest BMD values 0.05 > p > 0.01. The Arg312Ser and Arg334Cys polymorphisms showed no differences in BMD values between the different genotypes. This is the first report that describes the association between the Leu46Pro polymorphism of the human P2Y2 receptor and the risk of osteoporosis.

KeywordsP2Y2 receptor Osteoporosis Bone mineral density Polymorphisms  Download fulltext PDF

Author: Anke Wesselius - Martijn J. L. Bours - Zanne Henriksen - Susanne Syberg - Solveig Petersen - Peter Schwarz - Niklas R. J


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