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Genetic risk factors for soft-tissue injuries 101: a practical summary to help clinicians understand the role of genetics and ‘personalised medicine’
  1. M Collins
  1. Correspondence to Professor M Collins, UCT/MRC Research Unit for Exercise Science and Sports Medicine, PO Box 115, Newlands, 7725, South Africa; malcolm.collins{at}

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Acute and chronic (overuse) musculoskeletal soft-tissue injuries are common as a result of sports and occupationally related physical activities. These injuries have no single cause—instead, they result from a complex interaction of intrinsic and extrinsic factors which include genetic factors.1 2 Specific genetic elements have been identified for certain soft-tissue injuries,3,,7 and I will summarise those in this editorial. I also explore the possible clinical implications of including genetic risk factors in multifactorial models developed to understand the molecular mechanisms of musculoskeletal soft-tissue injuries.

For which conditions have genetic factors been identified?

A familial predisposition and/or an association of specific genetic sequence variants have been proposed for conditions affecting the Achilles and rotator cuff tendons, as well as for shoulder dislocation and cruciate ligament ruptures.3 6 As summarised in table 1, initial investigations using genetic association (case–control) study designs showed that sequence variants (or polymorphisms) within several genes that encode for extracellular matrix proteins are likely associated with some of the previously mentioned injuries.3,,8

View this table:
Table 1

Genes associated with soft-tissue injuries

What is the clinical relevance of these discoveries?

The results of these pioneering sports medicine genetics studies suggest that soft-tissue injuries, like other more extensively investigated complex disorders (eg, obesity, type 2 diabetes), are caused by the interaction of multiple genetic and environmental factors. They also suggest that there might be similarities and differences with respect to the genetic sequence variants associated with (1) tendon and ligament injuries, (2) acute and chronic injuries and (3) injuries within males and females. Further work is required to better understand these …

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  • Competing interests None.

  • Provenance and peer review Commissioned; not externally peer reviewed.