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Rigshospitalet - a part of Copenhagen University Hospital
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Association of P2Y(2) receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients

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The P2Y(2) 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 P2Y(2) receptor gene in humans, we examined associations between genetic variations in the P2Y(2) 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 P2Y(2) 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 P2Y(2) receptor and the risk of osteoporosis.

Original languageEnglish
JournalPurinergic Signalling
Volume9
Issue number1
Pages (from-to)41-9
Number of pages9
ISSN1573-9538
DOIs
Publication statusPublished - Mar 2013

    Research areas

  • Absorptiometry, Photon, Aged, Bone Density, Cohort Studies, DNA, Female, Fractures, Bone, Gene Frequency, Genetic Variation, Genotype, Haplotypes, Humans, Male, Middle Aged, Netherlands, Osteoporosis, Polymorphism, Single Nucleotide, Receptors, Purinergic P2Y2, Risk Assessment, Saliva

ID: 43549841