Bıçakçı Barkın, Cięszczyk Paweł, Humińska-Lisowska Kinga
Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdańsk, Poland.
Int J Mol Sci. 2024 Dec 4;25(23):13041. doi: 10.3390/ijms252313041.
This narrative review explores the relationship between genetics and elite endurance athletes, summarizes the current literature, highlights some novel findings, and provides a physiological basis for understanding the mechanistic effects of genetics in sport. Key genetic markers include R577X (muscle fiber composition), I/D (cardiovascular efficiency), and polymorphisms in , , and , influencing energy metabolism, angiogenesis, and cardiovascular function. This review underscores the benefits of a multi-omics approach to better understand the complex interactions between genetic polymorphisms and physiological traits. It also addresses long-standing issues such as small sample sizes in studies and the heterogeneity in heritability estimates influenced by factors like sex. Understanding the mechanistic relationship between genetics and endurance performance can lead to personalized training strategies, injury prevention, and improved health outcomes. Future studies should focus on standardized classification of sports, replication studies involving diverse populations, and establishing solid physiological associations between polymorphisms and endurance traits to advance the field of sports genetics.
本叙述性综述探讨了遗传学与优秀耐力运动员之间的关系，总结了当前的文献，突出了一些新发现，并为理解遗传学在运动中的作用机制提供了生理学基础。关键的遗传标记包括R577X（肌肉纤维组成）、I/D（心血管效率）以及影响能量代谢、血管生成和心血管功能的基因、基因和基因的多态性。本综述强调了采用多组学方法来更好地理解遗传多态性与生理特征之间复杂相互作用的益处。它还解决了一些长期存在的问题，如研究中的样本量小以及受性别等因素影响的遗传力估计的异质性。理解遗传学与耐力表现之间的作用机制可以带来个性化的训练策略、预防损伤并改善健康结果。未来的研究应专注于运动的标准化分类、涉及不同人群的重复研究，以及在多态性与耐力特征之间建立坚实的生理学关联，以推动运动遗传学领域的发展。
