ACTN3 R577X genotype and performance of elite middle-long distance swimmers in China

Abstract

The ACTN3 gene is one of the genes that have a potential influence on physical performance. Studies have shown that the 577R genotype of ACTN3 is more prevalent in sprint athletes, while the 577X genotype is more prevalent in endurance athletes. In swimming, both power and endurance related phenotypes are equally needed for swimmers to excel at the elite level. Therefore, the ACTN3 R577X polymorphism may become a genetic marker for swimmers. The study aimed to examine the association of the ACTN3 R577X genotype with the performance of elite middle-long distance (MLD) swimmers. The distributions of the ACTN3 R577X (rs1815739) genotype and allele were examined in a general population (206) and a group of elite MLD swimmers (160) in China by using PCR-RFLP and TOF. Compared with the general population, the elite MLD swimmers, especially the females, had a higher frequency of the RR genotype. The swimmers had a higher frequency of the R allele than the general population. However, the difference was not statistically significant. After being stratified by performance, the difference of the R allele frequency between the international master athletes and the general population was statistically significant. The elite MLD swimmers had a higher frequency of the RR genotype than the RX+XX genotype compared with the general population. The ACTN3 R577X polymorphism was associated with the performance of elite MLD swimmers in China. The SNP R577X could be used as a biomarker for selecting elite MLD swimmers in China.

Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review

“…The results of the four studies that examined only individual disciplines or sports are as follows: Falahati and Arazi could not link any of the genotypes of the ACE variant to the cardiovascular fitness of Iranian footballers (Falahati and Arazi, 2019 ). Ginszt et al ( 2018 ) and Li et al ( 2017 ) investigated the ACTN3 R577X polymorphism in climbing, bouldering, and swimming and both found an overrepresentation of the RR genotype of the gene variant in their groups of athletes. Kikuchi et al ( 2017 ) also found the MCT1 T1470A rs1049434 polymorphism significantly higher in Japanese elite wrestlers and correlated it with their performance in two anaerobic tests.…”

“…In this case, this genotype was detected significantly more frequently in sprint and strength athletes and could be associated with their jumping performance. Li et al referred to both strength and endurance-related phenotypes in swimmers (Li et al, 2017 ). The results of their study showed that both the RR genotype and the RX+XX genotype of the ACTN3 polymorphism are significantly overrepresented in these athletes compared to a control group.…”

“…In addition, comparability of the studies is limited due to the different design in the structure, analysis, and evaluation. Some authors restricted their study population to a single type of exercise (Kikuchi et al, 2017 ; Li et al, 2017 ; Ginszt et al, 2018 ; Falahati and Arazi, 2019 ) while others formed heterogeneous cohorts of athletes from several disciplines (Guilherme and Lancha, 2017 ; Yang et al, 2017 ; Zarebska et al, 2017 ; Guilherme et al, 2019 ). Since the characteristics of endurance performance, muscle strength and injury susceptibility vary in children, adolescents, and seniors, these groups were excluded to increase the generalizability of the results by focusing on a normal adult age.…”

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

“…This indicates an enhanced capacity for fat/carbohydrate oxidation during repeated and moderate-intensity muscle contractions (Table 2). However, in humans, the potential advantage of the X allele or the XX genotype for endurance sports performance is less clear, with some investigations reporting no increased frequency of the XX genotype in endurance athletes (Grealy et al 2013;Guilherme et al 2018;Papadimitriou et al 2018;Ma et al 2013;Lucia et al 2006;Saunders et al 2007;Yang et al 2007) or even an under-representation of this genotype (Ahmetov et al 2010;Kikuchi et al 2016;Li et al 2017) respect to control/untrained populations. Thus, it can be assumed that perhaps lack of α-actinin-3 does not offer a major advantage for endurance performance, at least in athletic populations (Table 1).…”

Evaluation of ACTN3 R577X and ACE I/D polymorphisms in young Colombian athletes: An exploratory research

“…In this sense, using genetic models, Papadimitriou et al (Papadimitriou et al, 2016) established that the ACTN3 R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively, in a large, performance-homogenous cohort of elite Australian, Brazilian, Greek, Jamaican, Italian, Polish, Russian, Lithuanian, Spanish and US sprinters. Although some research have established that the genetic background of ACTN3 R577X and/or ACE I/D polymorphisms play an important role in sporting potential, which might explain why some individuals may be better adapted to specific physical training or performance (Chiu et al, 2019;Coelho et al, 2018;Del Coso et al, 2019;Kikuchi et al, 2015;Li et al, 2017;Massidda et al, 2019;R. Yang et al, 2017;Znazen et al, 2015), readers should note that other studies have reported no association between the ACTN3 R577X and/or ACE I/D polymorphism and athletic performance (Falahati & Arazi, 2019;Koku et al, 2019;Maciejewska-Skrendo, Cięszczyk, Chycki, Sawczuk, & Smółka, 2019;Massidda et al, 2015;Miyamoto, Miyamoto-Mikami, Hirata, Kimura, & Fuku, 2018;Moreno-Pérez, Machar, Sanz-Rivas, & Del Coso, 2020;Papadimitriou et al, 2018).…”