The interactions of physical activity, exercise and genetics and their associations with bone mineral density: implications for injury risk in elite athletes

Herbert, A.J., Williams, A.G., Hennis, P.J. ORCID: 0000-0002-8216-998X, Erskine, R.M., Sale, C. ORCID: 0000-0002-5816-4169, Day, S.H. and Stebbings, G.K., 2019. The interactions of physical activity, exercise and genetics and their associations with bone mineral density: implications for injury risk in elite athletes. European Journal of Applied Physiology, 119 (1), pp. 29-47. ISSN 1439-6319

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Low bone mineral density (BMD) is established as a primary predictor of osteoporotic risk and can also have substantial implications for athlete health and injury risk in the elite sporting environment. BMD is a highly multi-factorial phenotype influenced by diet, hormonal characteristics and physical activity. The interrelationships between such factors, and a strong genetic component, suggested to be around 50–85% at various anatomical sites, determine skeletal health throughout life. Genome-wide association studies and case–control designs have revealed many loci associated with variation in BMD. However, a number of the candidate genes identified at these loci have no known associated biological function or have yet to be replicated in subsequent investigations. Furthermore, few investigations have considered gene–environment interactions—in particular, whether specific genes may be sensitive to mechanical loading from physical activity and the outcome of such an interaction for BMD and potential injury risk. Therefore, this review considers the importance of physical activity on BMD, genetic associations with BMD and how subsequent investigation requires consideration of the interaction between these determinants. Future research using well-defined independent cohorts such as elite athletes, who experience much greater mechanical stress than most, to study such phenotypes, can provide a greater understanding of these factors as well as the biological underpinnings of such a physiologically “extreme” population. Subsequently, modification of training, exercise or rehabilitation programmes based on genetic characteristics could have substantial implications in both the sporting and public health domains once the fundamental research has been conducted successfully.

Item Type: Journal article
Publication Title: European Journal of Applied Physiology
Creators: Herbert, A.J., Williams, A.G., Hennis, P.J., Erskine, R.M., Sale, C., Day, S.H. and Stebbings, G.K.
Publisher: Springer
Date: January 2019
Volume: 119
Number: 1
ISSN: 1439-6319
4007Publisher Item Identifier
Rights: Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Divisions: Schools > School of Science and Technology
Record created by: Linda Sullivan
Date Added: 12 Dec 2018 10:50
Last Modified: 23 Jan 2019 11:04

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