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非接触性软组织损伤的遗传学基础——遗传学知识有实际应用吗?

The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge?

机构信息

Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.

Faculty of Physical Education, Gdansk University of Physical Education and Sport, Górskiego 1 Street, 80-336 Gdansk, Poland.

出版信息

Cells. 2024 Nov 5;13(22):1828. doi: 10.3390/cells13221828.

Abstract

Physical activity increases the risk of non-contact injuries, mainly affecting muscles, tendons, and ligaments. Genetic factors are recognized as contributing to susceptibility to different types of soft tissue injuries, making this broad condition a complicated multifactorial entity. Understanding genetic predisposition seems to offer the potential for personalized injury prevention and improved recovery strategies. The candidate gene analysis approach used so far, has often yielded inconclusive results. This manuscript reviews the most commonly studied genetic variants in genes involved in the musculoskeletal system's structure and recovery processes (, , , , , , , , , , , , and ). Referring to the literature, it was highlighted that single-gene analyses provide limited insight. On the other hand, novel genetic testing methods identify numerous variants of uncertain physiological relevance. Distinguishing between functionally important variants, modifying variants, and the thousands of irrelevant variants requires advanced bioinformatics methods and basic multiomics research to identify the key biological pathways contributing to injury susceptibility. Tools like the Total Genotype Score (TGS) and Polygenic Risk Score (PRS) offer a more holistic view by assessing the combined effect of multiple variants. However, these methods, while useful in research, lack clinical applicability. In conclusion, it is too early to determine the clinical implications of genetic variability as a tool for improving well-established training and injury prevention methods, as the predictive power of genetic testing for injury predisposition is currently low.

摘要

体力活动会增加非接触性损伤的风险,主要影响肌肉、肌腱和韧带。遗传因素被认为是导致不同类型软组织损伤易感性的原因,使这种广泛的疾病成为一种复杂的多因素实体。了解遗传易感性似乎为个性化的损伤预防和改善康复策略提供了潜力。迄今为止,所使用的候选基因分析方法往往得出的结果不一致。本文综述了目前在骨骼肌肉系统结构和恢复过程中涉及的基因中研究最多的遗传变异(、、、、、、、、、、、和)。参考文献,强调单基因分析提供的见解有限。另一方面,新的遗传测试方法确定了许多具有不确定生理相关性的变体。区分功能重要的变体、修饰变体和数千个不相关的变体需要先进的生物信息学方法和基础多组学研究来确定导致损伤易感性的关键生物学途径。总基因型评分(TGS)和多基因风险评分(PRS)等工具通过评估多个变体的综合效应提供了更全面的观点。然而,这些方法在研究中很有用,但缺乏临床适用性。总之,作为改进成熟的训练和损伤预防方法的工具,遗传变异性的临床意义还为时过早,因为遗传测试对损伤易感性的预测能力目前较低。

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