Tendons and ligaments within the upper and lower limbs are some of the more common sites of musculoskeletal injuries during physical activity. Several extrinsic and intrinsic factors have been shown to be associated with these injuries. More recently, studies have suggested that there is also, at least in part, a genetic component to the Achilles tendon, rotator cuff and anterior cruciate ligament injuries. Specific genes however have not been suggested to be associated with rotator cuff or anterior cruciate ligament injuries. Sequence variants of the TNC gene, on the other hand, have been shown to be associated with Achilles tendinopathies and Achilles tendon ruptures, while a variant of the COL5A1 gene has also been shown to be associated with Achilles tendinopathies. Both genes encode for important structural components of tendons and ligaments. The COL5A1 gene encodes for a component of type V collagen which has an important role in regulating collagen fibre assembly and diameters. The TNC gene, on the other hand, encodes for tenascin C, which regulates the tissue's response to mechanical load. To date, only variants in two genes have been shown to be associated with Achilles tendon injuries. In addition, although specific genes have not been identified, investigators have suggested that there is also a genetic component to both rotator cuff and anterior cruciate ligament injuries. In future, specific genotypes that are associated with increased risk of injury to specific tendons and ligaments may result in prevention of these injuries by identifying higher-risk individuals.
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