Sports genomics

This relatively new scientific discipline is focusing on understanding and mapping human genome, its role in human-biology, physiological processes, diseases, and physical performance.

It tries to reveal the organization and functions of athletes’ genome. Due to the latest data analysis DNA profiling athletics and sports performance are developing into a tool for the examination of athletic activity, sport selection, individualized trainings plans, and sport-related injuries and traumas.

The model of humans’ physical activity was determined by natural selection throughout evolution. This process along with environmental contexts affected human genome and individuals’ physical capacity. Thus sport performance is a complex phenotype. Genes associated with sport abilities and competences have various variants. These genetic variations have impact on metabolic processes in human organism, performance, stamina, muscles, and components of muscle-fibres, neuromuscular coordination, and oxygen uptake abilities. All these can be measured. Experts concluded that these features and qualities can be inherited only with 50-60%. The data of the first analysis based on the statistical outcomes of structural traits of phenotypes. The examinations of families and twins revealed that there is a significant heritability of genetic factors which determine individual traits. The comparative analysis of both monozygotic and dizygotic twins’ (e.g. HERITAGE) physical performance proved the significant hereditary. The focus was to examine the maximum oxygen uptake (VO2max), skeletal muscle, motor activity and sub-maximum aerobic performance.  It has also been stated that the performance variant can be found in the differences of life styles, environmental contexts, eating habits, motivation, sports equipment and training programmes.

The growth of capacity due to physical activities and humans’ endurance are affected by genes.

The first genome marker that defines physical performance became known in 1998 by the development of biological technologies and decoding the human DNS-code.

The gene polymorphisms of angiotensin-converting enzyme (ACE) were related to the regulation of blood circulation and endurance by the theory of Montgomery and co-workers. The latest methods have allowed to carry out genome wide association studies (GWAS). Although these methods also have their barriers. It can be stated that until recently researchers have identified 239 genes, and quantitative trait locus; (QTL) whose variants can be related to physical performance, achievement and sports results. Out of this 214 are autosomal dominant linked to 7 X chromosome, and 18 are mitochondrial gene. The genes that significantly affect genetic changes resulting high physical performance are called performance enhancing polymorphisms; (PEP).

Sport performance shows individual variance being in connection with the tasks. In case of a complex task the selection criterion is accompanied with higher achievement and this growth may inhibit others’ performance. This hypothesis is backed up by a series of studies where world class athletes were examined. The outcomes of the athletes’ performance in 100-meter sprint (characterized with the quick, exhaustibility fibres), long jump, shot-putting negatively correlated with that of the 110 meter-hurdling which relates to strengthening endurance, fitness and slow fibre activity. In other words, athletes’ high achievement (sprint, strength) overshadows, for example, endurance and stamina.

It has already been proved that physical fitness has powerful genetic background (hopefully this study will make it clear). It is a challenging task to identify this background of DNS. The genes related to fitness, stamina and strength have several categories: (a) relevant, (b) prevalent, (c) modifiable and (d) measurable.

The following chapter describes and details the genes and their polymorphisms which affect individuals’ achievement.