TY - JOUR
T1 - Association of P2Y(2) receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients
AU - Wesselius, Anke
AU - Bours, Martijn J L
AU - Henriksen, Zanne
AU - Syberg, Susanne
AU - Petersen, Solveig
AU - Schwarz, Peter
AU - Jørgensen, Niklas R
AU - van Helden, Svenhjalmar
AU - Dagnelie, Pieter C
PY - 2013/3
Y1 - 2013/3
N2 - 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.
AB - 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.
U2 - 10.1007/s11302-012-9326-3
DO - 10.1007/s11302-012-9326-3
M3 - Journal article
C2 - 22773251
SN - 1573-9538
VL - 9
SP - 41
EP - 49
JO - Purinergic Signalling
JF - Purinergic Signalling
IS - 1
ER -