Silva Hugo-Henrique, Silva Maria-Raquel G, Cerqueira Fátima, Tavares Valéria, Medeiros Rui
Institute of Biomedical Sciences of the University of Porto (ICBAS), Porto, Portugal -
Senior Rink-Hockey Team, União Sportiva Oliveirense, Oliveira de Azeméis, Portugal -
J Sports Med Phys Fitness. 2022 Mar;62(3):418-434. doi: 10.23736/S0022-4707.21.12020-1. Epub 2021 Mar 5.
In the last few years, some inherited determinants have been associated with elite athletic performance, but its polygenic trait character has limited the correct definition of elite athlete's genomic profile. This qualitative descriptive study aims to summarize the current understanding about genetic and epigenetic factors in elite athletes, as well as their genomic profile in association with sport-type, sex, ethnicity, psychological traits and sport injuries. A narrative review of the literature across a broad cross-section of the elite athletes' genomic profile was undertaken. Elite performance relies on rare gene variants within a great interface between molecular, cellular and behavioral sport-related phenotypes and the environment, which is still poorly understood. ACTN3 rs1815739 and ACE I/D polymorphisms appear to be associated to specific sprint phenotypes and influence the athletic status, i.e., the rs1815739 variant is more influential to 200-m performance and the ACE ID polymorphism is more involved in the longer, 400-m sprint performance. Generally, athletes show endurance-based sports characteristics or power-based sports characteristics, but some studies have reported some genes associations to both sports-based characteristics. Furthermore, genetic studies with larger cohorts of single-sport athletes might be preferable than studies combining athletes of different sports, given the existence of distinct athlete profiles and sport demands. Athletic performance may be influenced by the serotonergic pathway and the potential injury risk (namely stress fracture) might be associated to a genetic predisposition associated to the mechanical loading from the intense physical exercise. The study of gene variants associated to sex and ethnicity-related to athletic performance needs further investigation. The combination of genome-wide association studies addressing the genetic architecture of athletes and the subsequent replication and validation studies might for additional genetic data is mandatory.
在过去几年中，一些遗传决定因素已与精英运动员的表现相关联，但其多基因性状特征限制了对精英运动员基因组概况的准确定义。这项定性描述性研究旨在总结目前对精英运动员遗传和表观遗传因素的理解，以及他们与运动类型、性别、种族、心理特征和运动损伤相关的基因组概况。对广泛的精英运动员基因组概况进行了文献综述。精英表现依赖于分子、细胞和行为运动相关表型与环境之间巨大界面内的罕见基因变异，而对此仍知之甚少。ACTN3 rs1815739和ACE I/D多态性似乎与特定的短跑表型相关，并影响运动状态，即rs1815739变异对200米成绩影响更大，而ACE ID多态性与更长距离的400米短跑成绩关系更大。一般来说，运动员表现出耐力型运动特征或力量型运动特征，但一些研究报告了某些基因与这两种运动特征都有关联。此外，鉴于存在不同的运动员概况和运动需求，对单一运动项目运动员的更大队列进行基因研究可能比将不同运动项目的运动员结合起来的研究更可取。运动表现可能受血清素能途径影响，潜在的受伤风险（即应力性骨折）可能与与高强度体育锻炼的机械负荷相关的遗传易感性有关。与运动表现相关的性别和种族相关基因变异的研究需要进一步调查。解决运动员遗传结构的全基因组关联研究与后续的复制和验证研究相结合以获取更多遗传数据是必不可少的。
