A study published in the European Journal of Human Genetics has detailed how women with a faulty gene demonstrate lower bone mass and nine-fold bone loss over women who have a correct copy of the gene.
Researchers from the University of Sheffield genotyped 506 postmenopausal women from the Aberdeen Prospective Osteoporosis Screening Study for loss-of-function (LOF) or gain-of-function single-nucleotide polymorphisms (SNPs) within the P2X7 receptor gene, then measured bone mineral density (BMD) in each woman’s lumbar spine at baseline and a 6-year to 7-year follow-up.
According to the study abstract, the researchers found the LOF SNP was associated with lower lumbar spine BMD both at baseline and at follow-up. The researchers also found a combined group of 48 patients with LOF SNPs demonstrated a nearly nine-fold greater annual change in lumbar spine BMD percentage than those patients without LOF SNPs.
The authors concluded that women at greater risk of osteoporosis development may be identified through certain polymorphic variants of the P2X7 receptor.
“This research is really important as it may help identify women who are at more risk of developing bone diseases such as osteoporosis,” study author Alison Gartland, BSc, PhD, stated in a University of Sheffield release.
- Gartland A, Skarratt KK, Hocking LJ, et al. Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women. Eur J Hum Genet. 2012. doi: 10.1038/ejhg.2011.245