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Post-GWAS Polygenic Risk Score: Utility and Challenges


Over the past decade, through genome-wide association studies, more than 300 genetic variants have been identified to be associated with either BMD or fracture risk. These genetic variants are common in the general population, but they exert small to modest effects on BMD, suggesting that the utility of any single variant is limited. However, a combination of effect sizes from multiple variants in the form of the polygenic risk score (PRS) can provide a useful indicator of fracture risk beyond that obtained by conventional clinical risk factors. In this perspective, we review the progress of genetics of osteoporosis and approaches for creating PRSs, their uses, and caveats. Recent studies support the idea that the PRS, when integrated into existing fracture prediction models, can help clinicians and patients alike to better assess the fracture risk for an individual, and raise the possibility of precision risk assessment. (c) 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Type Journal
ISBN 2473-4039 (Electronic) 2473-4039 (Linking)
Authors Nguyen, T. V.; Eisman, J. A.
Responsible Garvan Author Prof John Eisman
Published Date 2020-09-07
Published Volume 4
Published Issue 11
Published Pages e10411
Status Published in-print
DOI 10.1002/jbm4.10411
URL link to publisher's version
OpenAccess link to author's accepted manuscript version