title: Association of P2Y(2) receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
abstract: 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.
authors: Department of Epidemiology, School for Public Health and Primary Care (CAPHRI), Maastricht University, Peter Debyeplein 1, P.O. Box 616, 6200 MD, Maastricht, The Netherlands. anke.wesselius@maastrichtuniversity.nl
authors: Anke
authors: A
authors: Wesselius
authors: Martijn J L
authors: MJ
authors: Bours
authors: Zanne
authors: Z
authors: Henriksen
authors: Susanne
authors: S
authors: Syberg
authors: Solveig
authors: S
authors: Petersen
authors: Peter
authors: P
authors: Schwarz
authors: Niklas R
authors: NR
authors: Jørgensen
authors: Svenhjalmar
authors: S
authors: van Helden
authors: Pieter C
authors: PC
authors: Dagnelie
mesh_terms: D015502:Absorptiometry, Photon; D000368:Aged; D015519:Bone Density / Q000235:genetics*; D015331:Cohort Studies; D004247:DNA / Q000097:blood / Q000737:chemistry; D005260:Female; D050723:Fractures, Bone / Q000453:epidemiology* / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D010024:Osteoporosis / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D058473:Receptors, Purinergic P2Y2 / Q000235:genetics*; D018570:Risk Assessment; D012463:Saliva / Q000737:chemistry
chemical_list: D058473:Receptors, Purinergic P2Y2; D004247:DNA