IBMS BoneKEy | BoneKEy Watch
GWAS at specific skeletal regions finds novel BMD-associated genes
DOI:10.1038/bonekey.2015.8
In order to investigate whether the genes underlying bone acquisition act in a site-specific manner, Kemp et al. performed a genome-wide association study (GWAS) looking at bone mineral density (BMD) at axial and appendicular skeletal sites.1 Total body dual-energy X-ray absorptiometry (DXA) scans from the 4,890 participants of the Avon Longitudinal Study of Parents and their Children (ALSPAC) were used to measure BMD at the upper limb, lower limb and the skull.
Variants at 13 loci reached genome-wide significance. In particular, the authors highlight the genes CPED1 and WNT16, located at the 7q.31.31 locus, which display different levels of association with BMD at different skeletal sites. The results also reveal a novel association between RIN3, a gene previously associated with Paget’s disease, and BMD.
The authors suggest that, since bones in different regions of the skeleton appear to be under varying and distinct genetic and environmental influences, refining GWAS to focus on separate skeletal regions may help provide further insights into the genetic basis of osteoporosis risk.
Editor’s comment: Although the authors also quantified the shared genetic and environmental correlation of BMD at different skeletal sites, they stopped short of the bivariate analysis to estimate whether the genetic loci they noted were indeed pleiotropic.
This work is licensed under a
Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.