title: 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.
authors.affiliation: 1School of Kinesiology, Shanghai University of Sport, Shanghai, China; 2Huangpu Guidance Centre of Sport Developing (Research Station of Sport Science), Shanghai, China; 3Shanghai Research Institute of Sport Science, Shanghai, China; 4Shanghai East Hospital, Shanghai, China; 5Developmental Biology and Reproduction Unit (BDR), French National Institute for Agricultural Research (INRA), Jouy-en-Josas, France; 6Dongdong Institute of Medical Research, Shanghai, China; and 7Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia.
authors.forename: Ruoyu
authors.initials: R
authors.lastname: Yang
authors.forename: Xunzhang
authors.initials: X
authors.lastname: Shen
authors.forename: Yubin
authors.initials: Y
authors.lastname: Wang
authors.forename: Sarah
authors.initials: S
authors.lastname: Voisin
authors.forename: Guang
authors.initials: G
authors.lastname: Cai
authors.forename: Yongnan
authors.initials: Y
authors.lastname: Fu
authors.forename: Wangyu
authors.initials: W
authors.lastname: Xu
authors.forename: Nir
authors.initials: N
authors.lastname: Eynon
authors.forename: David J
authors.initials: DJ
authors.lastname: Bishop
authors.forename: Xu
authors.initials: X
authors.lastname: Yan
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D056352:Athletes; D054874:Athletic Performance / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D035002:Lower Extremity / Q000502:physiology; D008297:Male; D018482:Muscle, Skeletal / Q000502:physiology*; D010641:Phenotype; D011110:Polymorphism, Genetic; D014142:Track and Field; D055815:Young Adult
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin