BoneKEy Reports | BoneKEy Watch

The genetic basis of osteoporosis—future challenges



DOI:10.1038/bonekey.2013.218

In this study, the authors review recent progress in genome-wide studies of osteoporosis, beginning with genome-wide linkage and then looking at genome-wide association, gene expression microarray and proteomics, right up to epigenetics.

Genetic factors are suspected to have a very strong influence on bone mineral density and the development of osteoporosis. However, although in excess of 80 genetic loci have been associated with osteoporosis risk in genome-wide association studies (GWAS), many more remain to be discovered. The authors stress that once individual genes are identified, it is important to perform molecular biology studies in vitro and in vivo to elucidate their functional relevance.

They also highlight that many of the studies done to date have produced results that have not yet been replicated. The challenge for the future, they comment, is to reduce inconsistencies by ensuring that studies have sufficient statistical power, include population stratification and participants with adequate genetic heterogeneity, and attempt to cover only limited regions of the genome.

Editor’s comment: An efficient way to improve the statistical power of GWAS is by carrying out a meta-analysis of multiple individual studies. The authors recently performed a series of theoretical analyses by simulation of GWAS meta-analyses (Liu et al.). Based on these numerical data, they address the usefulness and limitations of combining multiple individual GWAS.


Creative Commons License This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.