ACTN3 R577X Gene Variant Is Associated With Muscle-Related Phenotypes in Elite Chinese Sprint/Power Athletes

Abstract

Yang, R, Shen, X, Wang, Y, Voisin, S, Cai, G, Fu, Y, Xu, W, Eynon, N, Bishop, DJ, and Yan, X. ACTN3 R577X gene variant is associated with muscle-related phenotypes in elite Chinese sprint/power athletes. J Strength Cond Res 31(4): 1107-1115, 2017-The ACTN3 R577X polymorphism (rs1815739) has been shown to influence athletic performance. The aim of this study was to investigate the prevalence of this polymorphism in elite Chinese track and field athletes, and to explore its effects on athletes' level of competition and lower-extremity power. We compared the ACTN3 R577X genotypes and allele frequencies in 59 elite sprint/power athletes, 44 elite endurance athletes, and 50 healthy controls from Chinese Han origin. We then subcategorized the athletes into international level and national level and investigated the effects of ACTN3 genotype on lower-extremity power. Genotype distribution of the sprint/power athletes was significantly different from endurance athletes (p = 0.001) and controls (p < 0.001). The frequency of the RR genotype was significantly higher in international-level than that in the national-level sprint/power athletes (p = 0.004), with no international-level sprint/power athletes with XX genotype. The best standing long jump and standing vertical jump results of sprint/power athletes were better in the RR than those in the RX + XX genotypes (p = 0.004 and p = 0.001, respectively). In conclusion, the ACTN3 R577X polymorphism influences the level of competition and lower-extremity power of elite Chinese sprint/power athletes. Including relevant phenotypes such as muscle performance in future studies is important to further understand the effects of gene variants on elite athletic performance.

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

“…A subsequent analysis of sprint/power cohorts also found that the ACTN3 RR genotype has a stronger association with sprinters compared with other track and field events such as jumpers, pole-vaulters, decathletes, and throwers (Papadimitriou et al, 2016b;Papadimitriou et al, 2008) and no Olympic-finalist sprinter has yet been identified with the 577XX genotype (Eynon et al, 2013). Similarly, four Asian sprint/power cohorts from Taiwan (Chiu et al, 2011), Japan (Kikuchi et al, 2016;Mikami et al, 2014), Korea (Hong & Jin, 2013;Kim, Song, & Kim, 2014), and China (Yang et al, 2017) have also confirmed the lower ACTN3 XX frequency in elite sprinters compared with population controls (Table 2a).…”

Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters

“…By Nan's study, it indicates heterozygote RX distribution was higher in female than male sprinters (57% vs. 39%) [2]. Yang et al [25] also found that no female subjects with XX (TT) in their genotype sequence in sprint/power events. Other studies reported a higher ratio of XX (TT) in female compared to male weightlifters (16% vs. 14%).…”

“…Furthermore, different genotype combinations of OR for RR, RR + XX and RR + RX, XX [RR/XX = 3.08 (χ 2 = 7.646; df = 1; P = 0.006)] indicates the ACTN3 RR genotype as the decisive factor in sprint/power events, which is also consistent with previous studies [3,17,19,20]. Yang et al [25] found ACTN3 rs1815739 polymorphism was highly correlated with Chinese sprint/power athletes and lower-extremity power and more elite athletes possess RR genotype. Other similar research conducted in Japan also suggested sprinters who have faster anticipated 100 m sprint results possessed higher distribution of RR + RX genotype than those with XX [9].…”

“…Walsh and Clarkson et al reported females with RR and RX genotype had better capacity in muscle contraction velocity than XX [1,20]. Other studies suggested that the RR genotype of ACTN3 rs1815739 polymorphism could be potentially used for talent identification in sprint/power athletes [22,25].…”

“…Though studies concerning the association between ACTN3 rs1815739 polymorphism and sprint/power athletes have been conducted, the subjects were of Caucasian race [25], or competed in event like athletics (mixture of sprinting, jumping, throwing) [15], volleyball [17], swimming [6], gymnastic [8], weightlifting [10]. Few studies regarding the association between sprinters' athletic abilities and ACTN3 rs1815739 polymorphism have been conducted.…”