Steering specific sports training programs – The genetics of exercise-induced injuries involving tendon and bone

David Hughes, Renae Domaschenz, Nicole Vlahovich, Nuala Byrne, Bon Gray, Maria A. Fiatarone Singh, Mark Brown, Lotti Tajouri

Research output: Contribution to journalMeeting AbstractResearchpeer-review


Introduction: Variations in gene expression during critical periods of exercise training and development through genetic and epigenetic mechanisms, may contribute to the explanation of why some individuals reach elite athletic excellence. Recognition of the potential role of genetics and epigenetics in sports development is gaining momentum. We know that athletic output is multifactorial and perhaps this combined input can provide the overall outlook necessary to decode the molecular foundation of physical excellence.

Aim: Funded by the Collaborative Research Network (CRN) for Advancing Exercise and Sport Science, this study will focus on the role of genetics in exercise-induced injuries. The aim is to identify genetic polymorphisms that contribute to increased risk of, or protection from tendon and bone injuries sustained through participation in physical activity. The proposed study will provide world-first evidence regarding the association between genetic polymorphisms and susceptibility to exercise-induced bony stress injuries.

Method: The sample size of the proposed study is 3000 recreational runners (with or without prior injury). This includes 1000 participants each from two types of exercise-induced injury cohorts, bone stress and tendon injuries, and 1000 controls. Recreational runners (15–60 km per week in 2–5 sessions per week) will be recruited online via running events, blogs, magazines, forums, and a network of imaging clinics, physicians and physical therapists. Participants will be questioned, through an online survey, on their running and injury history. After meeting the inclusion criteria, DNA will be extracted from saliva and the genetics of uninjured participants, participants with Achilles tendinopathy and participants with bone stress injury will be examined using genome-wide association studies (GWAS). Further confirmatory studies will be performed following the identification of candidate genes in the GWAS analysis. In addition, survey information will be used for epidemiological analysis independent of genetic analysis and will serve as a database of potential candidates for future studies on injury incidence and prevention.

Result/discussion: This study may reveal novel genetic polymorphisms which may have broader implications for general health. This will contribute to the rapidly evolving body of research on genetic factors related to exercise, fitness and athletic output – which may reveal implications for training of potential elite-level athletes. Identifying the genetic characteristics of potential injury related to athletic excellence or individual predisposition to types of sports with different demands may allow for greater specificity in steering of sports training programs.
Original languageEnglish
Article number28
Pages (from-to)e83
JournalJournal of Science and Medicine in Sport
Issue numberSupplement 1
Publication statusPublished - Dec 2014


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