Current Osteoporosis Reports

, Volume 10, Issue 3, pp 236–244 | Cite as

Genetics and the Individualized Prediction of Fracture

Bone Genetics (S Ferrari, Section Editor)


Recent genome-wide association studies have identified many genetic variants associated with fracture risk. These genetic variants are common in the general population but have very modest effect sizes. A remaining challenge is to translate these genetic variant discoveries to better predict the risk of fracture based on an individual’s genetic profile (ie, individualized risk assessment). Empirical and simulation studies have shown that 1) the utility of a single genetic variant for fracture risk assessment is very limited; but 2) a profile of 50 genetic variants, each with odds ratio ranging from 1.02 to 1.15, can improve the accuracy of fracture prediction and classification beyond that obtained by conventional clinical risk factors. These results are consistent with the view that genetic profiling, when integrated in existing risk assessment models, can inform a more accurate prediction of fracture risk in an individual.


Genetics Individualized prediction Fracture Osteoporosis Genome-wide association studies GWAS Single nucleotide polymorphism SNP Genes Bone mineral density BMD 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Osteoporosis and Bone Biology ProgramGarvan Institute of Medical ResearchSydneyAustralia

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