Genes’ Polymorphisms Related To Athletic Physical Performance

Abstract

Genetic predisposition has a substantial role in the development of athletic physical performance and is characterized by a large number of gene polymorphisms and the interaction of these variations. PURPOSE: (1) to examine the prevalence of genotypes of 6 genes related to physical performance (ACE I/D, ACTN3 R577X, PPARGC1A Gly482Ser,AGT Met235Thr, AMPD1 Gln12Ter, NOS3786C/T) in Estonian elite athletes; (2) to compare the distribution of gene variations between representatives of 2 sports groups (predominantly endurance-oriented and mostly for speed and/or power-oriented sports groups). METHODS: the study group consisted of 130 elite athletes (23 females and 107 males); current and former Estonian national team members; in age range 28.3±5.6 years; involved in 19 different sports disciplines. There were 77 representatives of endurance-oriented sports (17 females and 60 males) and 53 representatives of speed and power-oriented sports (6 females and 47 males). 26 athletes of the study group were medallists or finalists in the Olympic Games, World or European championships. Peripheral venous blood samples were collected for DNA extraction and genotyping (6 candidate genes) from all study subjects. For statistical analysis, a descriptive analysis and χ2 test were used to determine significant differences between the frequencies of gene variations. P-values of ≤ 0.05 were set as statistically significant. RESULTS: the higher prevalence of the RR genotype of the ACTN3 gene among athletes of endurance-oriented sports compared to athletes of speed and power-oriented sports was statistically significant (p=0.025). We did not find any significance in the distribution of other gene variations between the two sports groups. We observed the trend of a higher prevalence of the NOS3 TT genotype (p=0.076) and a lower prevalence of the AMPD1 TT genotype (p=0.09) in the endurance-oriented sports group compared to the speed and power-oriented sports group, but it was not statistically significant. CONCLUSIONS: our study results reveal a significantly higher prevalence of the ACTN3 RR genotype in athletes of the endurance-oriented sports group, which is in accordance with our previous study among young skiers and this may be an advantage for the explosive speed and power capacity in endurance sports.