September A V, Posthumus M, Collins M
UCT/MRC Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, University of Cape Town, South Africa.
Recent Pat DNA Gene Seq. 2012 Dec;6(3):216-23. doi: 10.2174/187221512802717358.
Musculoskeletal soft tissue injuries such as Achilles tendinopathy and anterior cruciate ligament ruptures are common among elite athletes, recreational athletes and physically active individuals. The consequences of injury may be devastating and prevent the recreational or competitive athlete from reaching their potential or lead to a premature end to their careers. Although these injuries have been well described at a clinical level, the biological mechanisms causing these injuries are poorly understood. A further understanding of the biological mechanisms underlying the injury will assist the treatment and management of these injuries. In addition, understanding the biology is an important prerequisite in developing models that can be used to effectively identify risk, as well as, implement personalized prevention, treatment and rehabilitation programmes. Both intrinsic, including genetic variants, and extrinsic risk factors have nevertheless been implicated in the aetiology of these injuries. To date, several patents have been filed which involve the use of specific polymorphisms and regions within specific genes to be used in a genetic test for either tendon or ligament injury risk. The objective of this manuscript will be to review the evidence for the genetic predisposition to soft tissue injury, as well as the application of this data in the prevention, treatment and management of musculoskeletal soft tissue injuries.
跟腱病和前交叉韧带断裂等肌肉骨骼软组织损伤在精英运动员、业余运动员和体育活动活跃的人群中很常见。损伤的后果可能是毁灭性的，会使业余或竞技运动员无法发挥其潜力，或导致他们过早结束职业生涯。虽然这些损伤在临床层面已有充分描述，但导致这些损伤的生物学机制却知之甚少。进一步了解损伤背后的生物学机制将有助于这些损伤的治疗和管理。此外，了解生物学是开发可用于有效识别风险以及实施个性化预防、治疗和康复方案的模型的重要前提。然而，内在因素（包括基因变异）和外在风险因素都与这些损伤的病因有关。迄今为止，已经提交了几项专利，涉及使用特定基因内的特定多态性和区域进行肌腱或韧带损伤风险的基因检测。本文的目的是综述软组织损伤遗传易感性的证据，以及这些数据在肌肉骨骼软组织损伤预防、治疗和管理中的应用。
