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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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@article{47a9f379e6304ea7ada2dfe0ba19588e,
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.",
keywords = "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",
author = "Anke Wesselius and Bours, {Martijn J L} and Zanne Henriksen and Susanne Syberg and Solveig Petersen and Peter Schwarz and J{\o}rgensen, {Niklas R} and {van Helden}, Svenhjalmar and Dagnelie, {Pieter C}",
year = "2013",
month = "3",
doi = "10.1007/s11302-012-9326-3",
language = "English",
volume = "9",
pages = "41--9",
journal = "Purinergic Signalling",
issn = "1573-9538",
publisher = "Springer Netherlands",
number = "1",

}

RIS

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 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.

AB - 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.

KW - Absorptiometry, Photon

KW - Aged

KW - Bone Density

KW - Cohort Studies

KW - DNA

KW - Female

KW - Fractures, Bone

KW - Gene Frequency

KW - Genetic Variation

KW - Genotype

KW - Haplotypes

KW - Humans

KW - Male

KW - Middle Aged

KW - Netherlands

KW - Osteoporosis

KW - Polymorphism, Single Nucleotide

KW - Receptors, Purinergic P2Y2

KW - Risk Assessment

KW - Saliva

U2 - 10.1007/s11302-012-9326-3

DO - 10.1007/s11302-012-9326-3

M3 - Journal article

VL - 9

SP - 41

EP - 49

JO - Purinergic Signalling

JF - Purinergic Signalling

SN - 1573-9538

IS - 1

ER -

ID: 43549841