Application of genomics in the prevention, treatment and management of Achilles tendinopathy and anterior cruciate ligament ruptures.

A V September, M Posthumus, M Collins
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引用次数: 51

Abstract

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.

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基因组学在跟腱病和前交叉韧带断裂预防、治疗和管理中的应用。
肌肉骨骼软组织损伤,如跟腱病和前十字韧带断裂是常见的精英运动员,休闲运动员和体力活动的个人。受伤的后果可能是毁灭性的,并阻止娱乐或竞技运动员发挥他们的潜力或导致他们的职业生涯过早结束。尽管这些损伤已经在临床水平上得到了很好的描述,但引起这些损伤的生物学机制却知之甚少。进一步了解损伤的生物学机制将有助于这些损伤的治疗和管理。此外,了解生物学是开发模型的重要前提,这些模型可用于有效识别风险,以及实施个性化的预防、治疗和康复计划。内在的,包括遗传变异,以及外在的危险因素都与这些损伤的病因有关。到目前为止,已经申请了几项专利,涉及使用特定基因中的特定多态性和区域,用于肌腱或韧带损伤风险的基因检测。本文的目的是回顾软组织损伤的遗传易感性的证据,以及这些数据在肌肉骨骼软组织损伤的预防、治疗和管理中的应用。
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