The association of ACTN3 R577X polymorphism with sports specificity in Japanese elite athletes

Nobuhiko Akazawa; Nao Ohiwa; Kazuhiro Shimizu; Natsumi Suzuki; Hiroshi Kumagai; Noriyuki Fuku; Yasuhiro Suzuki

doi:10.5114/biolsport.2022.108704

eISSN: 2083-1862
ISSN: 0860-021X

Biology of Sport

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4/2022
vol. 39

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abstract:

Original paper

The association of ACTN3 R577X polymorphism with sports specificity in Japanese elite athletes

Nobuhiko Akazawa

¹

,

Nao Ohiwa

¹

,

Kazuhiro Shimizu

¹

,

Natsumi Suzuki

²

,

Hiroshi Kumagai

³

,

Noriyuki Fuku

³

,

Yasuhiro Suzuki

^{1, 4}

Department of Sports Research, Japan Institute of Sports Sciences, Tokyo, Japan
Faculty of International Studies, Takushoku Univeristy, Tokyo, Japan
Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan
Center for General Education, Tokyo Keizai University, Tokyo, Japan

Biol Sport. 2022;39(4):905–911

DOI: https://doi.org/10.5114/biolsport.2022.108704

Online publish date: 2021/11/10

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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.

keywords:

The association of ACTN3 R577X polymorphism with sports specificity in Japanese elite athletes

Nobuhiko Akazawa 1 , Nao Ohiwa 1 , Kazuhiro Shimizu 1 , Natsumi Suzuki 2 , Hiroshi Kumagai 3 , Noriyuki Fuku 3 , Yasuhiro Suzuki 1, 4

elite athletes, ACTN3 R577X polymorphism, sports events

Nobuhiko Akazawa

¹

,

Nao Ohiwa

¹

,

Kazuhiro Shimizu

¹

,

Natsumi Suzuki

²

,

Hiroshi Kumagai

³

,

Noriyuki Fuku

³

,

Yasuhiro Suzuki

^{1, 4}