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Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
Osteoporos Int. 2013 Apr; 24(4):1235-46.OI

Abstract

The P2X7 receptor is thought to be involved in bone physiology in a pro-osteogenic manner. Therefore, we examined associations between genetic variations in the P2X7 receptor gene and bone mineral density (BMD). We found an association between four non-synonymous polymorphism of the human P2X7 receptor and the risk of osteoporosis.

INTRODUCTION

The purpose of this study was to determine whether genetic variation in the P2X7 receptor gene (P2RX7) is associated with decreased BMD and risk of osteoporosis in fracture patients.

METHODS

Six hundred ninety women and 231 men aged≥50 years were genotyped for 15 non-synonymous P2RX7 SNPs. BMD was measured at the total hip, lumbar spine and femoral neck.

RESULTS

Four non-synonymous SNPs were associated with BMD. The Ala348Thr gain-of-function polymorphism was associated with increased BMD values at the lumbar spine (p=0.012). Decreased hip BMD values were associated with two loss-of-function SNPs in the P2RX7, i.e., in subjects homozygous for the Glu496Ala polymorphism as well as in subjects carrying at least one variant allele of the Gly150Arg polymorphism (p=0.018 and p=0.011; respectively). In men, we showed that subjects either heterozygous or homozygous for the Gln460Arg gain-of-function polymorphism in the P2RX7 had a significantly 40% decrease in risk of a lower T-score value (OR=0.58 [95%CI, 0.33-1.00]).

CONCLUSION

Thus, genetic aberrations of P2X7R function are associated with lower BMD and increased osteoporosis risk. Therefore, detection of non-synonymous SNPs within the P2RX7 might be useful for osteoporosis risk estimation at an early stage, potentially enabling better osteoporosis prevention and treatment.

Authors+Show Affiliations

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.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22776862

Citation

Wesselius, A, et al. "Association of P2X7 Receptor Polymorphisms With Bone Mineral Density and Osteoporosis Risk in a Cohort of Dutch Fracture Patients." Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, vol. 24, no. 4, 2013, pp. 1235-46.
Wesselius A, Bours MJ, Henriksen Z, et al. Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients. Osteoporos Int. 2013;24(4):1235-46.
Wesselius, A., Bours, M. J., Henriksen, Z., Syberg, S., Petersen, S., Schwarz, P., Jørgensen, N. R., van Helden, S., & Dagnelie, P. C. (2013). Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 24(4), 1235-46. https://doi.org/10.1007/s00198-012-2059-x
Wesselius A, et al. Association of P2X7 Receptor Polymorphisms With Bone Mineral Density and Osteoporosis Risk in a Cohort of Dutch Fracture Patients. Osteoporos Int. 2013;24(4):1235-46. PubMed PMID: 22776862.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients. AU - Wesselius,A, AU - Bours,M J L, AU - Henriksen,Z, AU - Syberg,S, AU - Petersen,S, AU - Schwarz,P, AU - Jørgensen,N R, AU - van Helden,S, AU - Dagnelie,P C, Y1 - 2012/07/10/ PY - 2012/04/20/received PY - 2012/06/13/accepted PY - 2012/7/11/entrez PY - 2012/7/11/pubmed PY - 2013/9/26/medline SP - 1235 EP - 46 JF - Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA JO - Osteoporos Int VL - 24 IS - 4 N2 - UNLABELLED: The P2X7 receptor is thought to be involved in bone physiology in a pro-osteogenic manner. Therefore, we examined associations between genetic variations in the P2X7 receptor gene and bone mineral density (BMD). We found an association between four non-synonymous polymorphism of the human P2X7 receptor and the risk of osteoporosis. INTRODUCTION: The purpose of this study was to determine whether genetic variation in the P2X7 receptor gene (P2RX7) is associated with decreased BMD and risk of osteoporosis in fracture patients. METHODS: Six hundred ninety women and 231 men aged≥50 years were genotyped for 15 non-synonymous P2RX7 SNPs. BMD was measured at the total hip, lumbar spine and femoral neck. RESULTS: Four non-synonymous SNPs were associated with BMD. The Ala348Thr gain-of-function polymorphism was associated with increased BMD values at the lumbar spine (p=0.012). Decreased hip BMD values were associated with two loss-of-function SNPs in the P2RX7, i.e., in subjects homozygous for the Glu496Ala polymorphism as well as in subjects carrying at least one variant allele of the Gly150Arg polymorphism (p=0.018 and p=0.011; respectively). In men, we showed that subjects either heterozygous or homozygous for the Gln460Arg gain-of-function polymorphism in the P2RX7 had a significantly 40% decrease in risk of a lower T-score value (OR=0.58 [95%CI, 0.33-1.00]). CONCLUSION: Thus, genetic aberrations of P2X7R function are associated with lower BMD and increased osteoporosis risk. Therefore, detection of non-synonymous SNPs within the P2RX7 might be useful for osteoporosis risk estimation at an early stage, potentially enabling better osteoporosis prevention and treatment. SN - 1433-2965 UR - https://www.unboundmedicine.com/medline/citation/22776862/Association_of_P2X7_receptor_polymorphisms_with_bone_mineral_density_and_osteoporosis_risk_in_a_cohort_of_Dutch_fracture_patients_ L2 - https://doi.org/10.1007/s00198-012-2059-x DB - PRIME DP - Unbound Medicine ER -