Non-synonymous polymorphisms in the P2RX (4) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients
AuthorWesselius, A; Bours, MJL; Jorgensen, NR; Wiley, J; Gu, B; van Helden, S; van Rhijn, L; Dagnelie, PC
Source TitlePurinergic Signalling
AffiliationFlorey Department Of Neuroscience And Mental Health
Document TypeJournal Article
CitationsWesselius, A., Bours, M. J. L., Jorgensen, N. R., Wiley, J., Gu, B., van Helden, S., van Rhijn, L. & Dagnelie, P. C. (2013). Non-synonymous polymorphisms in the P2RX (4) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients. PURINERGIC SIGNALLING, 9 (1), pp.123-130. https://doi.org/10.1007/s11302-012-9337-0.
Access StatusAccess this item via the Open Access location
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568421
C1 - Journal Articles Refereed
In the present study we investigated whether single nucleotide polymorphisms (SNPs) in the P2RX ( 4 ), which alter the P2X ( 4 ) R function, are associated with the development of osteoporosis and whether an interaction between the P2X ( 4 ) R and P2X ( 7 ) R confer a synergistic effect of these two receptors on osteoporosis risk. Patients with fracture (690 females and 231 males, aged ≥50 years) were genotyped for three non-synonymous P2X ( 4 ) R SNPs. Bone mineral density (BMD) was measured at the total hip, lumbar spine, and femoral neck. Subject carrying the variant allele of the Tyr315Cys polymorphism showed a 2.68-fold (95 % CI, 1.20-6.02) higher risk of osteoporosis compared with wild-type subject. Furthermore, significant lower lumbar spine BMD values were observed in subjects carrying the Cys315 allele as compared with wild-type (0.85 ± 0.17 and 0.93 ± 0.17 g/cm(2), respectively; p < 0.001). Assuming a recessive model, carriers of the variant allele of the Ser242Gly polymorphism showed increased BMD values at the lumbar spine compare to wild-type subject (1.11 ± 0.35 and 0.92 ± 0.17 g/cm(2), respectively; p = 0.0045). This is the first study demonstrating an association of non-synonymous polymorphisms in the P2RX ( 4 ) and the risk of osteoporosis, suggesting a role of the P2X ( 4 ) R in the regulation of bone mass.
KeywordsNeurosciences not elsewhere classified; Biochemistry and Cell Biology not elsewhere classified; Clinical Health (Organs; Diseases and Abnormal Conditions) not elsewhere classified; Skeletal System and Disorders (incl. Arthritis); Expanding Knowledge in the Medical and Health Sciences
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