Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

Abstract

The impact of genetics on physiology and sports performance is one of the most debated research aspects in sports sciences. Nearly 200 genetic polymorphisms have been found to influence sports performance traits, and over 20 polymorphisms may condition the status of the elite athlete. However, with the current evidence, it is certainly too early a stage to determine how to use genotyping as a tool for predicting exercise/sports performance or improving current methods of training. Research on this topic presents methodological limitations such as the lack of measurement of valid exercise performance phenotypes that make the study results difficult to interpret. Additionally, many studies present an insufficient cohort of athletes, or their classification as elite is dubious, which may introduce expectancy effects. Finally, the assessment of a progressively higher number of polymorphisms in the studies and the introduction of new analysis tools, such as the total genotype score (TGS) and genome-wide association studies (GWAS), have produced a considerable advance in the power of the analyses and a change from the study of single variants to determine pathways and systems associated with performance. The purpose of the present study was to comprehensively review evidence on the impact of genetics on endurance- and power-based exercise performance to clearly determine the potential utility of genotyping for detecting sports talent, enhancing training, or preventing exercise-related injuries, and to present an overview of recent research that has attempted to correct the methodological issues found in previous investigations.

Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

“…Identification of genetic markers associated with the regulation of energy metabolism in skeletal muscles can help sports physicians and coaches develop personalized strategies for talent selection for endurance, strength, and speed sports and to adapting the training protocols in function of the athletes' genetic profile. However, the multifactorial aspect of sport performances, including impact of genetics, epigenetics, environment (training ...), is important for personalized strategies for talent identification and for best express, in safety, the potential of each athlete [30].…”

Genetic profiles to identify talents in elite endurance athletes and professional football players

“…At the end of 2020, the total number of deoxyribonucleic acid (DNA) polymorphisms that are significant to athlete status was 97 (35 endurance-related, 24 powerrelated, and 38 strength-related) [6]. It should be borne in mind however, that hundreds and even thousands of polymorphisms are needed for the prediction of sports performance [7].…”

“…Although the true role of the ACTN3 c.1729C>T (rs1815739) and ACE I/D (rs4340) polymorphisms in skeletal muscle performance and strength traits remains controversial [15][16][17][18][19], in a systematic review the ACE II genotype was associated with physical performance, especially endurance performance, while the ACTN3 CC genotype was associated with speed and power performance [12,20]. Genetic information may represent a potentially useful tool for current procedures to identify future talent, enhance training or prevent sport-related injuries [7].…”

Epigenetic Alterations in Sports-Related Injuries

“…Sports and exercise researchers evaluate the adaptiveness of athletes’ responses to training as well as their performance levels using a variety of physiological, biochemical, and biomedical indicators. Since the late 1990s, it has been known that genetic backgrounds are highly important in the performance-related effects of sports training but also in the vulnerability and predisposition to injuries and recovery from injuries [ 14 , 15 , 16 , 17 , 18 ]. Research shows that there are over 200 genetic polymorphisms that affect endurance, power, and muscle performances, and may be even used in gene doping [ 17 , 18 ].…”

“…Since the late 1990s, it has been known that genetic backgrounds are highly important in the performance-related effects of sports training but also in the vulnerability and predisposition to injuries and recovery from injuries [ 14 , 15 , 16 , 17 , 18 ]. Research shows that there are over 200 genetic polymorphisms that affect endurance, power, and muscle performances, and may be even used in gene doping [ 17 , 18 ]. Sports genomics as a separate scientific discipline focuses on the organisation and functioning of the genome in elite athletes and aims to develop molecular methods that may be used for sports medical practices, personalised exercise training, nutrition prescription, and the prevention of exercise-related injuries and/or diseases [ 18 ].…”