@Article{Akazawa2022,
journal="Biology of Sport",
issn="0860-021X",
volume="39",
number="4",
year="2022",
title="The association of ACTN3 R577X polymorphism with sports specificity in Japanese elite athletes",
abstract="The α-actinin-3 proteins regulate muscle function and are located in the Z-line of the fast skeletal muscle. A common null polymorphism of R577X in α-actinin-3 gene (ACTN3) results in its complete absence in fast-twitch muscles. The ACTN3 R577X polymorphism is associated with sprint/power performance in athletes. However, little is known about how this polymorphism impacts sports other than sprint/power-oriented sports in Japanese elite athletes. The aim of our study was to examine the association between ACTN3 R577X polymorphism and elite athlete status in various sports categorized as power/sprint, endurance, artistic, martial arts, and ball game sports. The subjects included 906 Japanese elite athletes and 649 Japanese controls. We analysed the genotype frequency of the ACTN3 R577X polymorphism in sprint/power (n = 120), endurance (n = 150), artistic (n = 45), martial arts (n = 94), and ball game (n = 497) sports athletes. A higher number of sprint/power athletes were R allele carriers compared to the controls, and the endurance and artistic athletes (OR = 1.69, 1.83, and 2.36, 95% CI: 1.02–2.79, 1.02–3.31, and 1.08–5.13, respectively). The frequency of RR genotype was higher in sprint/power, martial arts, and ball game sports athletes (OR = 1.61, 1.84, and 1.39, 95% CI: 1.04–2.50, 1.11–2.95, and 1.05–1.83, respectively) compared to control. Furthermore, there is a significant linear trend with increasing R allele according to athletic status (P for trend < 0.05). The ACTN3 R allele is positively associated with sports performance requiring explosive power such as sprint/power, martial arts, and ball game sports categories.",
author="Akazawa, Nobuhiko
and Ohiwa, Nao
and Shimizu, Kazuhiro
and Suzuki, Natsumi
and Kumagai, Hiroshi
and Fuku, Noriyuki
and Suzuki, Yasuhiro",
pages="905--911",
doi="10.5114/biolsport.2022.108704",
url="http://dx.doi.org/10.5114/biolsport.2022.108704"
}