Sports genetics

Even before the start of the implementation of the international project “ Human Genome ”, it was known that many human qualities, such as physique, strength, speed, endurance, properties of the nervous system and so on, are genetically determined and inherited. At that time, knowledge about the heritability of traits was obtained on the basis of observation methods and twin methods. For example, it was found that in 50% of cases the children of outstanding athletes have pronounced athletic abilities and in 70% of cases if both parents were athletes. In addition, the ethnic nature of the inheritance of outstanding physical abilities was discovered: in the sprint there are still no equal to American blacks , and in the run for medium and long distances - to Kenyans and Ethiopians . In connection with the latest fact, a Center for the study of the phenomenon of Kenyan and Ethiopian runners was created at the University of Glasgow ( Glasgow , Scotland ).

More clearly the heritability of physical qualities was shown using twin methods. For this, we used data on various traits in large samples of monozygotic and dizygotic twins . As a result, heritability coefficients were identified for each of these characters. It should be borne in mind that heritability rates can vary in different populations.

Speaking about the heritability of traits, it is necessary to take into account that the development and manifestation of the physical qualities of a person depends in a different ratio, both on genetic and environmental factors. The more genetic factors affect certain physical qualities (high heritability), the less these qualities are trainable, and vice versa. In this regard, at an early stage of sports specialization, it is important to identify in children a genetic predisposition to those sports in which success will depend, first of all, on qualities with a high degree of heritability (explosive strength, speed, flexibility, etc.).

At the end of the 80s with the active introduction of gene mapping methods, as well as within the framework of the Human Genome project, data began to appear on genes associated with the manifestation and development of human physical qualities. In 1995, the American (previously working in Canada ) scientist Claude Bouchard launched the grandiose international project “HERITAGE” (short for HEalth, RIsk Factors, Exercise Training And GEnetics), which involved several research centers, and studied the relationship between genotypic and phenotypic data from over 800 people after several weeks of various physical activities.

Bouchard and his colleagues searched for polymorphic loci associated with human physical activity in two directions. One of them suggested scanning the entire genome using a set of genetic markers with known chromosome localization for associations of certain loci with various quantitative traits. In the future, targeted sequencing (determination of the nucleotide sequence) of the sites located around the found loci and the identification of polymorphisms in them linked to known genetic markers were assumed. This method, referred to as QTL mapping (mapping of quantitative trait loci (Quantitative Trait Loci)), is quite time-consuming and should be applied to close relatives (for example, monozygotic and dizygotic twins).

Despite the high efficiency of the QTL mapping method, the analysis of associations of polymorphisms of candidate genes with various physical qualities of a person is considered the most common method for detecting informative polymorphic loci. The search for polymorphic candidate genes and their use in studying the genetic predisposition to perform various physical activities is based on knowledge of the molecular mechanisms of muscle or any other activity and the assumption that the polymorphism of this gene can affect the level of metabolic processes in the body.

The progress in understanding the heritability of the physical qualities of a person as a result of HERITAGE studies has been significant. C. Bouchard and his colleagues published hundreds of works in various physiological and genetic journals, and summarized all the achievements in this area in several issues of the journal Medicine & Science in Sports and Exercise in the form of a genetic map of human physical activity (2000-2009).

Nevertheless, from the point of view of popularity, the young British scientist Hugh Montgomery can be called the most successful in the field of genetics of human physical activity. In 1998, he managed to publish in the most prestigious journal Nature, which guaranteed the close attention of the entire scientific, and generally global community [Montgomery, 1998]. The headlines of world information publications included the discovery of the “gene of sport”, by examining which it was possible to reveal a predisposition to this or that sport or physical activity for anyone. The gene in question is called the “angiotensin-converting enzyme gene” (ACE).

Earlier, H. Montgomery et al. Have already published data on insertion - deletion polymorphism of this gene, and its connection with myocardial growth in army recruits during physical exercises [Montgomery, 1997]. Conclusions of H. Montgomery were as follows: the carriage of a mutant variant of the ACE gene (carriage of the D allele ) favors the manifestation of speed-strength qualities and at the same time increases the risk of developing excessive myocardial hypertrophy ; on the other hand, the normal allele I gives an advantage during a stay in the highlands and in endurance sports.

In addition to the ACE gene, later, other significant genes were discovered whose polymorphisms are associated with physical activity in athletes, such as the alpha-actinin-3 gene (ACTN3), the AMP-deaminase gene (AMPD1), and the alpha receptor gene activated by peroxisome proliferators ( PPARA), a gamma receptor 1-alpha activator gene activated by peroxisome proliferators (PPARGC1A) and a vascular endothelial growth factor gene (VEGF). By mid- 2015, 120 genetic markers associated with sports activity were discovered ^[1] .

Long before the official development of sports genetics, the Laboratory of Sports Anthropology (subsequently called the “Laboratory of Sports Anthropology, Morphology and Genetics”) was founded on the initiative of E. G. Martirosov at the VNIIFC in 1972, and he headed it for the next 20 years. He founded the school and created a school of sports anthropology. The main areas of laboratory research have traditionally been associated with the development of biomedical criteria and methods for diagnosing giftedness in the selection and training system of promising athletes.

In recent years, dermatoglyphic studies have been widely conducted in this laboratory in the search for genetic markers of functional status [Abramova, 1995].

In general, the country developed the genetics of physical activity without the use of molecular methods, and blood groups, body type, body type, dermatoglyphs, muscle fiber composition, type of sensorimotor reactions and other phenotypic signs were considered as genetic markers of physical activity [Nikityuk, 1978; Moskatova, 1992; Sergienko; 1990; Abramova; 1995]. The heritability of physical qualities has also been actively studied using twin methods [Schwartz, 1991].

The end of the 90s , when the opportunity arose to use molecular genetic methods in revealing a genetic predisposition to physical exercises of various durations and directions, appeared to be a completely new era in the Russian history of the genetics of physical activity. In 1999, St. Petersburg scientists from the Institute of Cytology of the Russian Academy of Sciences (providing laboratory activities) and St. Petersburg Research Institute of Physical Culture (providing the studied samples) began joint research to identify the association of ACE gene polymorphism with physical performance in highly qualified athletes.

In 2001, in the sports biochemistry sector, SPbNIIFC under the leadership of prof. V. A. Rogozkin organized the first in Russia specialized laboratory for sports genetics using molecular methods, and in 2003 the official formation of the sports genetics group took place.

In Russia, sports genetics are also involved in the molecular genetics laboratory of Kazan State Medical University (Kazan; the head is I. Akhmetov), ​​at the Scientific-Clinical Center for Physical and Chemical Medicine of the FMBA of Russia, at the Department of Genetics of the Bashkir State Pedagogical University (Ufa; Gorbunova V. Yu.), At the Research Institute of Olympic Sports of the Ural State University of Physical Culture (Chelyabinsk; supervisor - Lekontsev E.V.), at the Buryat State University in Lab Rathore sports Genetics of the Faculty of Physical Culture, Sports and Tourism (Ulan-Ude, the head - Aksenov MO).

• Review “Molecular genetics of sports: state and prospects”

• Genetics of Fitness and Physical Performance. Bouchard C., Malina RM, Perusse L. 1997. 408 pp.
• Sports genetics. Tutorial. Sologub E. B., Taymazov V. A. 2000. 127 p.
• The basics of sports genetics. Tutorial. Sergienko L.P. 2004.631 p.
• Genetics Primer for Exercise Science and Health. Roth SM 2007.192 pp.
• Molecular genetics of sports. Monograph. Akhmetov I.I.M .: Soviet Sport, 2009.268 p.
• Genetic and Molecular Aspects of Sports Performance. Bouchard C. & Hoffman EP 2011.442 pp.
• Exercise Genomics. Pescatello LS & Roth SM 2011.267 pp.