Impact of Sports Genetics on Athlete Performance


Sports performance is heavily dependent upon genetic trends. Athletic performance is a complex trait that is influenced by both genetic and environmental factors. Studies focused on similarities and differences in athletic performance within families, including between twins, suggest that genetic factors underlie 30 to 80 percent of the differences among individuals in traits related to athletic performance.
Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.In fact, sports performance is a complex multifactorial phenomenon governed by several intrinsic factors such as genetic polymorphism, psychomotor skills, and physical fitness that are greatly influenced by extrinsic factors such as diet, training and health status. Early detection of potential traits of practical utility will help in devising training plans during growth and development, thus enhancing the capabilities and skills for the attainment of peak performance.

Sports Genetics and its Scope:

Genetics has long played a role in the understanding of sports performance. Certain body types are well suited to types of athletic functions and movements.
The importance of genetics in the prediction of athletic performance is less pronounced when the sport requires the development of a specific set of technical skills, placing primary emphasis upon efficient technique and error-free execution.
Sports Genetics is a wide concept which has various applications such as talent identification, performance prediction, injury risks associated to the athletes and performance testing. It is crucial to apply the appropriate tool for identifying unique traits rather than making false assumptions about the role of genetics in athlete performance.

Examples of Genetic Sequence on Sports Performance

The variation of major human endurance-related traits depends probably to ≈50% on DNA sequence variation [i.e., genetics, implying that ≈50% is dependent on environmental factors such as endurance training and nutrition.
The association of the ACTN3 genotype with performance has also been studied in children. Boys with ACTN3 RR genotype tended to swim faster (25m and 100m) regardless of training status. The R allele was also associated with better 40m sprint performance in adolescent Greek boys. Late adolescent girls with the RR genotype performed better on sit up tests than girls with the RX genotype. However, the ACTN3 genotype was not associated with several other power or endurance phenotypes in adolescents of either sex.

Newer trends in Genetic testing and injury prevention through prediction

Genetic testing examines one’s DNA to gain an understanding of individual traits and characteristics including athleticism, susceptibility to diseases such as heart disease and different types of cancers, and predisposition to disabilities and mental illness.
Genetic testing of athletes is perceived to be particularly beneficial in high-impact sports that involve repetitive blows to the head such as boxing and rugby. Genetic testing can also be useful for general injury prevention and recovery, high priority areas for athletes, performance staff, and medical personnel. Research into genetic variation and its impact on tendon and ligament injuries has proven particularly fruitful, with a genetic contribution identified in certain musculoskeletal soft tissue injuries involving, for example, the Achilles tendon in the heel, the rotator cuff tendons in the shoulder, and the cruciate ligaments in the knee.

Genetic testing in sports – whether for the identification of disease, injury prevention, and recovery, performance enhancement, or talent identification – might be uncommon at present but it does occur in pockets, and it appears to have the potential to secure benefits to athletes and sporting organizations. It is anticipated that such benefits will increase with scientific advancements in the future. It is thus timely to consider the regulatory framework that such testing in sport occurs within.

Role of Sports Genetics in Talent identification

As the body of knowledge in Sports Genetics expands and is refined, the ability to apply it to athletic training in a valid and meaningful way will increase. Much work is being done to develop a valid methodology in the application of genetic knowledge to the prediction of multifactorial, polygenic diseases and traits
Testing the utility and efficacy of genetic testing in the talent identification process should be conducted to ascertain whether the information provided by genetic testing—and not obtained through other traditional non-genetic tests such as physical testing—is of relevance to increase the specificity of overall talent selection. Another issue is that the currently available markers appear to offer poor specificity and sensitivity as talent identification tools.
The provision of elite athlete status is a highly complex, polygenic trait, and we know very few of the genetic variations that contribute to such a trait. As a result, it appears a fundamental requirement that, if genetic testing is to be utilized for talent identification purposes, a far greater number of polymorphisms associated with elite athlete status needs to be uncovered and then combined into a complex TGS model.


Since sports performance is very complex and a result of a combination of many different traits and aspects, it is necessary to base analyses and conclusions of genetic profiles on more detailed phenotyping. Sex- and ethnicity-specific analyses will be required to refine sports genetics.
The future of genetic studies involving athletes is promising. In recent years, many polymorphisms have been associated with athletic phenotypes, but definitive confirmation of association and the underlying physiological mechanisms are proven difficult tasks. The challenges to progress in this novel area are enormous, but a variety of experimental approaches can be used.
Genetics is only one out of many contributing factors to the athletic performance, and sometimes it may play only secondary roles. It will be a long way until we know exactly what the role of genetics for each sport is and which are, at the molecular level, the variants accounting for this and how they work.

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