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

Background and Objective. Based on the results of many studies, the angiotensin-converting enzyme (ACE) and the alpha-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 jump 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.