To be a sportsman is a highly difficult and demanding job that not only demands determination, dedication, nutrition, supportive environment and intensive training but the ‘intrinsic ability’ coined by genetic traits. The finding that sport performance has a genetic background became a promising area of research in sports genetics since late 1990s when the first discoveries highlighted hereditary involvement in achieving elite sports status were published. Since then, numerous studies have been conducted to elucidate the gene-gene and gene-environment interactions that contribute to sport-related phenotypes contributing to elite performance status. In fact, sports performance is a complex multifactorial phenomenon governed by many intrinsic factors such as genetic polymorphism, psychomotor skills, physical fitness that are greatly influenced by extrinsic factors such as diet, training and health status.
Performance-enhancing gene polymorphisms
From the last two decades, several studies have provided compelling evidences that both endurance and power performances are influenced by genetic factors that collectively are called performance-enhancing gene polymorphisms (PEPs). Surprisingly, PEPs are common in general population and more than 200 PEPs have been seen so far. But, only 20 out of 200 were specifically found in athletes and only 10 could be replicated in association studies. Since then approaches such as twin studies, familial aggregation studies, genome wide linkage and association analyses have revealed structural variants in genes having great influence on sport performance indicators like aerobic endurance, muscular strength and power.
Genetic variants linked with injury risk
Further, the underlying risks for getting injury during sports and training is another important aspect to consider during talent identification. Like other performance associated polymorphisms resistance to injuries and capability to recover is conferred by genetic variants as well. Athletes often suffer from concussion (mild traumatic brain injury) and tendinopathies.
- Genetic plays a critical role in development of sports phenotype and exercise response.
- However to get positive benefits, training regimes and healthy lifestyle habits are of utmost importance. In other words, genetic coupled with a fitness and training regime can lead to development of an elite performance phenotype.
- Consequently, one of the most interesting application of sports genetic is development of tests for predicting performance and devise training regime.
- Furthermore, the potential for genetic testing to predict injury predisposition, may help in ensuring health and safety of athletes during sports training.
- An excellent example of this is one of the Australian Rugby team which claimed that it has utilized genetic testing to develop training programs for its team members to gain a competitive edge over other teams. The team got tested 18 of its 24 players for 11 exercise-related genes. Subsequently their training programs were redesigned according to their genetic profile. In addition to this some professional sports teams are using the genetic test results for direct training recommendations.
Inclusion of genetic tests in talent hunt would revolutionize the field of sport. Genetic tests to elucidate the inherent capabilities of youth with respect to sport performance will not only help them in selecting the right sports career but also the exercise and training regime that would complement their genetic background. 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 attainment of peak performance.
References :
- Adapted from : Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; on behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13:e000067. doi: 10.1161/HCG.0000000000000067
- Adapted from : Naureen Z, Perrone M, Paolacci S, Maltese PE, Dhuli K, Kurti D, Dautaj A, Miotto R, Casadei A, Fioretti B, Beccari T, Romeo F, Bertelli M. Genetic test for the personalization of sport training. Acta Biomed. 2020 Nov 9;91(13-S):e2020012. doi: 10.23750/abm.v91i13-S.10593. PMID: 33170162; PMCID: PMC8023127.
Genetic testing is informative and useful for the clinical management of various inherited cardiovascular diseases such as cardiomyopathies, arrhythmic disorders, thoracic aortic aneurysms and dissections, and familial hypercholesterolemia (FH).
A Scientific Statement From the American Heart Association
Implications of Genetic Testing Beyond the Original Patient
Once a patient has tested positive for a pathogenic or likely pathogenic variant in a cardiovascular disease gene, the implications of that variant extend beyond the 1 patient.
Genetic counselors have expertise in how to provide this information to patients and, ultimately, their family members
Table 1. Genetics-Guided Diagnosis and Management of Cardiovascular Conditions*
ARVC indicates arrhythmogenic right ventricular cardiomyopathy; DCM, dilated cardiomyopathy; FH, familial hypercholesterolemia; HCM, hypertrophic cardiomyopathy; ICD, implantable cardioverter-defibrillator; and LDL-C, low-density lipoprotein cholesterol. *This is not intended to be a definitive list.
References :
- Adapted from : Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; on behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13:e000067. doi: 10.1161/HCG.0000000000000067