n International SportMed Journal - Genetic risk factors for Achilles tendon injuries : review article




Regular participation in physical activities is associated with the risk of developing musculoskeletal injuries, including soft tissue injuries to tendons. Although there is a high incidence of soft tissue injuries, the aetiology of these tendon and other musculoskeletal injuries are not fully understood. Both intrinsic and extrinsic factors have been shown to be associated with tendon injuries. More recently, studies have suggested that there is also, at least in part, a genetic component to sports injuries such as Achilles tendon, rotator cuff and anterior cruciate ligament injuries. <br>Recent research has shown that specific variants of the &lt;I&gt;COL5A1&lt;/I&gt; and &lt;I&gt;TNC&lt;/I&gt; genes are associated with Achilles tendon injuries in physically active individuals. Both genes encode for important structural components of tendons. The &lt;I&gt;COL5A1&lt;/I&gt; gene encodes for a component of type V collagen which forms heterotypic fibres with type I collagen. The protein is believed to play an important role in regulating fibre diameter and strength. The &lt;I&gt;TNC&lt;/I&gt; gene, on the other hand, encodes for the extracellular matrix protein tenascin C, which is believed to regulate the tissues response to mechanical load. <br>To date, only variants in two genes have been shown to be associated with Achilles tendon injuries. In future, specific genotypes that are associated with increased risk of tendon and other musculoskeletal injuries may result in prevention and treatment of injuries by identifying higher risk individuals.


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