ACE and ACTN3 Genes Polymorphisms and Endurance Performance

Abstract

ACE I/D and ACTN3 R577X polymorphisms are the most extensively studied genes in recent years in association with human physical performance. VO2max is recognized as one of the major quantitative traits in sports physiology and the most common method to demonstrate cardiorespiratory endurance. The heritability for the VO2max in several studies has been observed up to 51%. PURPOSE: (1) To assess ACE gene ACTN3 genotype frequencies in young male skiers compared to the control group and (2) to analyze the relationships between VO2peak and ACE I/D and ACTN3 R577X polymorphisms in young male skiers. METHODS: Male skiers (n=56; 14 to 21 yrs), 52% of them are current or former junior national team members of Estonia. A standardized exercise test on a treadmill with determination VO2peak was performed. Anthropometric measurements and training characteristics were obtained. The male control group (n=145, 20 to 37 yrs) consisted of healthy sedentary subjects without previous athletic status. Venous blood samples for DNA extraction were collected. Genotyping of rs4343 (ACE, C_11942562_20) and rs1815739 (ACTN3, C_590093_1) was carried out by using the TaqMan SNP 5’ allelic discrimination assay. For statistical analysis, descriptive analysis, χ2-test was used. RESULTS: Frequency of ACE ID and ACTN3 RR genotypes in male skiers was statistically higher (p<0.05) and frequency of RX genotype of ACTN3 was lower (p<0.05) compared with controls. There were no significant differences in distribution of ACE I/D and ACTN3 R577X polymorphisms between the groups with different competing levels. We did not observe significant differences in mean VO2peak between ACE I/D, as well between ACTN3 R577X genotypes in male skiers. CONCLUSIONS: Our study results revealed a statistically higher prevalence of ACE ID and ACTN3 RR genotypes in young male skiers (64% and 40%, respectively) compared with male controls (47% and 18%, respectively). Mean VO2peak did not show significant differences between ACE I/D as well between ACTN3 R577X genotypes in male young skiers.