Polymorphisms in ACE and ACTN3 Genes and Blood Pressure Response to Acute Exercise in Elite Male Athletes from Serbia.

Physiological adaptations to various types of prolonged and intensive physical activity, as seen in elite athletes from different sports, include changes in blood pressure (BP) response to acute exercise. Also, functional polymorphisms of the angiotensin I converting enzyme (ACE) and alfa-actinin-3 (ACTN3) genes are shown to be associated with BP parameters changes, both in athletes and sedentary population. In this study, an Alu insertion (I)/deletion (D) polymorphism in ACE gene, as well as nonsense mutation in the gene encoding ACTN3 have been scored in 107 elite Serbian athletes classified according to their sporting discipline to power/sprint (short distance runners/swimmers), endurance (rowers, footballers, middle-distance swimmers) or mixed sports (water polo, handball, volleyball players). Presence of nonfunctional allele in ACTN3 is associated with significantly increased maximal systolic BP (SBPmax, p = 0.04). Athletes with Alu insertion in ACE had significantly (p = 0.006) larger decline of systolic BP after 3 minutes of recovery (SBPR3), calculated as the percentage of maximal SBP response during exercise stress testing. Concomitant presence of non-functional variant in ACTN3 gene decreased this beneficiary effect of ACE mutation on SBPR3. Long term enrollment in power/sprint sports significantly increased resting diastolic BP (DBPrest: 74 mmHg) and SBPmax (197 mmHg) and improved SBPR3 (74.8%) compared to enrolment in endurance (72 mmHg; 178 mmHg; 81.1%) and mixed sports (69 mmHg; 185 mmHg; 80.0%). Lack of the effect of genotype by sport interaction on BP parameters suggests that the long-term effects of different disciplines on BP are not mediated by these two genes.

Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.

BACKGROUND: Present article aims at clarifying the association of ACE and ACTN3 polymorphisms with adaptive heart changes in elite athletes from power, endurance and mixed sport disciplines using the principal component analysis (PCA). METHODS: Overall, 281 elite male athletes are divided into three groups: strength-type sports, endurance and mixed sports. After anthropometric measurements, physical and ultrasound examination of the heart, the athletes were exposed to a physical load test. All groups were analyzed for functional ACE and ACTN3 polymorphisms. In order to convert a set of examined, possibly correlated adaptive cardiovascular changes into a set of values of linearly uncorrelated variables we used principal component analysis (PCA). RESULTS: The type of sport significantly affects not only the athlete's anthropometric characteristics, but also on the scope and specificity of the investigated adaptive cardiovascular changes. Athletes from the mixed group of sports showed the best working efficiency of the heart. PCA showed that the type of sport, but not genetic predisposition affects the co-adaptation of complex traits. CONCLUSIONS: Effect of genotype, type of sport and their interaction on observed variability in morpho-functional cardiovascular adaptive changes in elite athletes can be used for a better understanding of the clinical phenomenon of athlete's heart and sudden cardiac death syndrome.