Genetic Variation of the Human ACE and ACTN3 Genes and Their Association With Functional Muscle Properties in Lithuanian Elite Athletes

Abstract

Background and Objective. Based on the results of many studies, the angiotensinconverting enzyme (ACE) and the α-actinin-3 (ACTN3) genes are considered strong candidate genes associated with human physical performance. On the other hand, the data regarding the association of the ACE I/D and ACTN3 R/X polymorphisms with human physical performance in different populations have been conflicting. The objective of our research was to evaluate the significance of these genetic variants on muscle performance phenotype in Lithuanian athletes. Material and Methods. The study involved 193 Lithuanian elite athletes and 250 controls from the general Lithuanian population. Genotyping was performed by polymerase chain reaction and/ or restriction fragment length polymorphism analysis. Anthropometric measurements and muscle strength (grip strength and vertical jump) were measured. Results. It was determined that ACE I/I and I/D genotypes were more frequent in the athlete group compared with the general Lithuanian population. The results of grip strength and vertical jum p were better in the athletes with the ACE I/I and ACTN3 X/X genotype compared with the athletes with ACE D/D and ACTN3 R/R, respectively. Conclusions. The ACE I and ACTN3 X alleles determine speed and power for Lithuanian athletes. In line with other researchers, it can be confirmed that the absence of a functional ACTN3 in fast-twitch muscle fibers is compensated. Lithuanian athletes who are carriers of the ACE I/I and I/D as well as ACTN3 X/X and R/X genotypes have the potential to achieve better results in power-requiring sports; therefore, the analyzed polymorphisms of these genes might be used as the criteria for the sport type selection.

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

“…In the water polo group, the ID genotype (62.96%) was conclusively higher than the other two genotypes. Similar results were found in a study with Lithuanian athletes (6). With regard to the "mixed athletes" group (both anaerobic and aerobic energy production), the percentage of ID genotype was 47.70%.…”

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

“…However, once we explored this association in a relatively large cohort of team-sport athletes (n = 205), all European Caucasians, we found no association between the ACTN3 R577X polymorphism and team-sport athletic status. We assume that the inconsistent results provided by some previous reports [12][13][14] can be attributed to the relatively small sample size of the studied cohorts, and consequently low statistical power. This supports the need for larger cohorts with clearly defined phenotypes to reach more solid conclusion in human association studies.…”

“…Santiago et al 11 showed higher proportions of the 577RR genotype in world-class professional soccer players (n = 60) compared with non-athletic controls and elite endurance athletes. In contrast, no association was found between the ACTN3 R577X polymorphism and athletic performance in a mixed group of elite Lithuanian athletes, 12 in Welsh rugby union players (n = 102), 13 or in Italian team-sport athletes (i.e., football, basketball, and hockey players; n = 65). 14 The inconsistent results in the aforementioned studies performed with elite team-sports athletes may be due to an insufficient sample size, associated with the low number of elite athletes available for analysis.…”

Current Progress in Sports Genomics

“…It should be noted that several studies have demonstrated no association between the ACE I/D polymorphism and endurance athlete status [28][29][30][31][32][33][34][35] or prevalence of the D allele (or low proportion of the II genotype) in endurance-oriented athletes in comparison with controls [19,[36][37][38]. Furthermore, Tobina et al [29] have shown that average running speed was significantly higher for those Japanese endurance runners with the combined DD/ID genotypes than for those with the II genotype.…”