Sportive Performance and Sports Genes A Brief Review

Oral O, Rezaee Z, Tatlibal P and Rashidlamir A

Published on: 2022-04-25


Background: After completing the human genome project, it has allowed us to investigate the structure and functions of the identified genes. The aim of this study is to investigate how sports genes may affect athletic performance.

Materials and Methods: In the search for scientific literature related to this review, the US National Library of Medicine (PubMed) used MEDLINE and Sport Discus data and the terms “genetics”, “sport genes”, “obesity”, and “sportive performance” were used. The relevant literature has also taken its source from the research of relevant articles from reference lists derived from data studies.

Results:  Especially in recent years, scientific developments in molecular genetics have brought significant innovations to our lives and the secrets of human life are being revealed. Consequently, the genetic structures that determine sportive performance have been discovered to optimize exercise training and injury prevention and to personalize nutrition prescription as well.

Conclusion: The relationship between sportive performance and sports genes is getting clearer each passing day. Strong pieces of evidence state that genetics is fundamental and influential in detecting sportive performance and adapting to training and it increases the applicability and necessity of sports genetics tests.


Sportive Performance; Sports Genes; Sports Genetics; Genetics; Athletic Performance


Sportive performance is defined as the physiological, biomechanical, and psychological efficiency of an athlete during the activity [1]. To achieve success, these parameters must be well trained and the factors affecting them must be considered. However, nowadays, in line with scientific developments, the relationship between genetic structures and sports success is becoming more and more valuable. The first steps of sports genetics started when Bouchard and his colleagues wrote a book in 1970s named "Genetics of Fitness and Physical Performance" but did not publish it till 1997. It was assumed that athletic traits are highly inheritable so there must be interactions between athletic performance and genes [2]. After advances in molecular genetics technology and the human genome project, there is a great opportunity to study genetic variables related to the physical, physiological, and psychological traits of elite athletes [3]. The determination of genetic parameters affecting athletic performance has led to more evident clarification of biological mechanisms, enabled new biological hypotheses to be formed, and relationships between predispositions to different sports and exercise types have been suggested [4]. Components such as strength, power, endurance, muscle fiber sizes, muscle fiber composition, flexibility, and neuromuscular coordination, which are essential for athletic performance, are directly related to genes and genetic variables. It is emphasized that sportive performance is related to genetics at the rate of 66%, while the rest is related to training, nutrition, equipment, motivation, sleep and non-genetic factors [5-7]. Genetic infrastructure in sports has a significant impact on strength, endurance, muscle mass, type, proportions of muscle fibers, and lung capacity [8].

Materials and Methods

In the search for scientific literature related to this review, the US National Library of Medicine (PubMed) used MEDLINE and Sport Discus data and the terms “genetics”, “sport genes”, “obesity”, and “sportive performance” were used. The relevant literature has also taken its source from the research of relevant articles from reference lists derived from data studies.


Many genes related to endurance, which are among the basic biomotor abilities, have been identified. Angiotensin-converting enzyme (ACE) gene is one of the most studied genes in sports genetics [9]. It is known that the ACE genotype has an essential role in the muscle strength of elite athletes [9-10], cardiovascular system morphology and left ventricular hypertrophy in long-distance runners [11]. There are three variations in the ACE gene; Homozygous insertion (I/I): “Increased endurance performance” is observed due to low ACE activity. Homozygous deletion (D/D): "Power performance" is observed due to high ACE activity. Compound heterozygous (D/I): Depending on the average ACE activity, partial advantage is provided for both traits [12]. Alvarez et al., (2000) determined that the ACE I allele had a significantly higher frequency in Spanish elite athletes (15 handball players, 20 long-distance runners and 25 cyclists) [13]. Studies have shown that individuals with ACE DD genotype respond better to muscle-strength training, have more type-II muscle fibers, and have a higher anaerobic capacity than individuals with ACE II genotype [14-15]. It has been reported that middle-distance runners with DD genotype have a high rate of fast contracting type-II muscle fiber types, which provides an advantage for athletes to show superior performance in terms of explosive power. However, it has been stated that individuals with the ID genotype are intermediate forms, and muscle fiber or physiological diversity can be achieved with different training techniques [16]. The erythropoietin gene (EPO) is known to increase oxygen transfer in tissues related to the regulation of athletic performance [16, 17]. The EPO gene increases long-term endurance by positively affecting aerobic capacity [18]. A-Actinin-3 R577X (ACTN 3) is a determinant gene for high-speed contractions and high-power production [19-21] found the rate of R allele as 72% in sprinters, 54% in endurance athletes and 56% in the control group in a study they conducted with athletes. The rate of I allele was 28% in sprinters, 46% in endurance athletes and 44% in the control group [22]. The completion of the human genome project has given us the opportunity to investigate the structure and functions of our genes, which are estimated to be between 20-25 thousand, and as a result of these studies, some of the genes that affect athletic performance have been identified [23]. While genetic and sports-related researches are increasing day by day, it is thought that the importance of genetic factors in achieving sports success is quite high. The collaboration of trainers and sports scientists with genetics and the matching of their evaluations to people with a genetic structure suitable for the sports branch will enable to raise psychologically healthy athletes in high performance, success and sports life. In this sense, it is thought that the evaluation of performance tests together with genetic analyses is important in many ways.


The Human Genome Project, which was announced in 2001 but whose deficiencies were completed in 2003, has accelerated the advances in the field of genetics. As in every branch of medicine, the world of Sports Science did not remain a spectator to these innovations. With the guidance of the Human Genome Project, which was updated as new information emerged in the course of time, genetic applications to solve the physiological secrets of sportive performance began to attract more and more attention in the world of Medicine and Sport Sciences. Based on the fact that genes can also determine how and in what way the athlete's body will respond to training, nutrition and other factors, the possibility of providing a prediction about the limits of sportive performance has arisen in line with the results obtained from sports gene tests in the subject of "Sports Genetics". Sports genetics or genomics is a novel and controversial field of science that is in dire need of more precise and continual studies in vast groups of athletes of all sports. Therefore, the perspective of this field of science is personalizing exercise training and nutrition prescriptions, injury susceptibility detection and prevention, sports-related chronic ailments prediction, and other medical care for elite athletes in order to maximize performance and safety in competitions. Sports genomics can also shed light on athletic talents identification methods and extend them to more scientific and accurate procedures. In order for sports genetics researchers to reach more positive results, it is necessary to evaluate the biochemical, functional and anatomical athletic structures affecting the physical, physiological and psychological behaviors of the human organism on a scientific basis so that future studies can elucidate more interactions between genes and athletic ingenuity.


We would like to express our special thanks of gratitude to Evangelia STAVROPOULOU for her very successful contribution to the literature research process and outstanding academic support in the publication during the process of this review article.

Conflict Of Interest

The authors certify that there is no conflict of interest with any financial organization regarding the material discussed in the manuscript.


The authors certify that there is no funding of any financial organization regarding the material discussed in the manuscript.


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