ACE and ACTN3 genes polymorphisms among female Hungarian athletes in the aspect of sport disciplines

Abstract

The aim of the study was to determine the importance of two sport-associated gene polymorphisms, alpha-actinin-3 R577X (ACTN3) and angiotensin-converting enzyme I/D (ACE), among Hungarian athletes in different sports. The examination was carried out only on women (n = 100). Sport-specific groups were formed in order to guarantee the most homogeneous clusters. Human genomic DNA was isolated from blood, and genotyping was performed by polymerase chain reaction. To measure the differences between the participating groups, Chi-squared test was performed using Statistica 9.0 for Windows® (significance level: p < 0.05). In comparing the ACE I/D allele frequencies, significant difference was detected between water polo (I = 61.11%; D = 38.89%) and combat sports (I = 35.71%, D = 64.29%) athletes (p < 0.03). There was no statistical difference when ACE I/D alleles in combat sports and kayaking/rowing (p > 0.05) were compared. A similarity was detectable in the I allele frequencies of the water polo (61.11%) and kayaking/rowing (56.67%) groups. The ACTN3 R/X polymorphism showed no differences in comparison with the sport groups. R allele frequencies were higher in every group compared to the X allele. The potential significance of the ACE I allele in sports of an aerobic nature was not clearly confirmed among Hungarian athletes.Keywords: ACE, ACTN3, gene polymorphisms, elite athletes, physical performanceNowadays it is well recognized that apart from vigorous training and environmental factors, athletic performance highly depends on the athlete's genetic background. Regarding genetic background, the angiotensin-converting enzyme (ACE) and the α-actinin-3 (ACTN3) genes are two of the most widely studied performance-related genes, although their influence on physical performance has not been completely explored (5,17,22,23). The angiotensinconverting enzyme is an important member of the renin-angiotensin system, which converts angiotensin I to angiotensin II. The interaction between angiotensin II and AT1 receptors can cause vasoconstriction, which influences blood pressure. This reaction also generates the release of vasopressin and aldosterone, and water and renal tubular sodium reabsorption and decreases renin level in the blood (11). Furthermore, one polymorphism of the ACE gene supports the energy-depository, enabling the enhancement of metabolic efficiency (16). Due to the crucial role of ACE in cardiovascular homeostasis, this polymorphism can be one part of a possible explanation for the individual variability among the exercise-related phenotypes.

ACE and ACTN3 Gene Polymorphisms and Genetic Traits of Rowing Athletes in the Northern Han Chinese Population

“…A previous study found that there were significant differences in the peak heart rate of the RR genotype and RX genotype in the male group but no significant differences in the female group, and high values of all endurance indexes appeared in the female group with the XX homozygous genotype ( Deschamps et al, 2015 ). Similarly, in this study, the 577X allele was not significantly associated with any traits of female athletes, consistent with the results of excellent endurance-oriented athletes such as Italian rowers ( Paparini et al, 2007 ), Russian rowers ( Weyerstraß et al, 2018 ), and Hungarian rowers ( Bosnyák et al, 2015 ). This could be explained by the fact that rowing is a complex discipline with a vigorous power-start demanding starting anaerobic capacity, an immediately high aerobic steady state, and an extremely exhausting spurt.…”

Polymorphisms of Lower Limb Sports Injuries in Weightlifters: Meta-Analysis

“…the foregoing reflects that the risk of injury prevails over the individual who does not manifest it. This is how Miyamoto et al [45] infer that this polymorphism is responsible for changes in the sarcomeric cytoskeleton leading to muscle stiffness and prevalence of injury [46]. One of the limitations found in this study was the diversity of polymorphisms associated with sports injuries as well as the limited availability of research on a gene or a defined polymorphism.…”

Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics

“…The Hungarian endurance group also contained rowers ( n = 32 out of N = 110) that may have contributed to these results. Furthermore, the similarity of the Hungarian athletes's genetic background with the Polish population has already been described with other gene variants (Bosnyák et al., 2015). The higher representation of Ser allele (compared to Pro allele frequency and the alleles to the control group) was not discoverable in the power group, so this research cannot strengthen the association of the muscle activity and the Ser allele that was reported before (Ahmetov et al., 2008; Cięszczyk et al., 2011, 2012).…”