ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes.
OBJECTIVE
Recent meta-analyses of the literature confirmed the association between the RR+RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athletic status in Europeans but not in Asians and Africans, while the association between the R577X genotype and elite endurance athlete status is less convincing. The aim of the present study was to investigate the association between the ACTN3 R577X genotype and elite athlete status in a large Asian (Japanese) cohort of track and field athletes.


METHODS
One-thousand fifty-seven Japanese track and field athletes (627 sprint/power athletes and 430 endurance athletes) and 810 Japanese controls were genotyped for the ACTN3 R577X polymorphism (rs1815739) by using the TaqMan® SNP Genotyping Assay.


RESULTS
Elite sprint/power athletes had a higher frequency of the RR+RX genotype than the controls (OR: 1.59, 95% CI: 1.16-2.18; P = .003). A significant linear correlation was found between the RR + RX genotype and athlete status (i.e. regional < national < international) in sprint/power athletes (regional: 71%, national: 81%, international: 84%; P = .001 for trend) and long-distance runners (regional: 65%, national: 72%, international: 82%; P = .030 for trend).


CONCLUSIONS
The data obtained for this large Asian (Japanese) cohort of track and field athletes served to confirm the association between the RR + RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athlete status and also the association between the ACTN3 RR + RX genotype and long-distance running athletic status.
a Sports Training Center , Nippon Sport Science University , Tokyo , Japan.
Naoki
N
Kikuchi
b Faculty of Sport and Health Science , Ritsumeikan University , Shiga , Japan.|c Japan Society for the Promotion of Science , Tokyo , Japan.
Eri
E
Miyamoto-Mikami
d Department of Health Promotion and Exercise , National Institute of Health and Nutrition , Tokyo , Japan.
Haruka
H
Murakami
e Graduate School of Health and Sports Science , Juntendo University , Chiba , Japan.
Tomohiro
T
Nakamura
f Korea Institute of Sport Science , Seoul , South Korea.
Seok-Ki
SK
Min
g Department of Physical Education , Nippon Sport Science University , Tokyo , Japan.
Masuhiko
M
Mizuno
e Graduate School of Health and Sports Science , Juntendo University , Chiba , Japan.
Hisashi
H
Naito
d Department of Health Promotion and Exercise , National Institute of Health and Nutrition , Tokyo , Japan.
Motohiko
M
Miyachi
h Department of Health and Medicine , Nippon Sport Science University , Tokyo , Japan.
Koichi
K
Nakazato
e Graduate School of Health and Sports Science , Juntendo University , Chiba , Japan.
Noriyuki
N
Fuku
D000185:Actinin / Q000235:genetics*; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D056352:Athletes / Q000706:statistics & numerical data*; D054874:Athletic Performance / Q000706:statistics & numerical data*; D005838:Genotype; D006801:Humans; D007564:Japan; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014142:Track and Field
C118456:ACTN3 protein, human; D000185:Actinin
Asian; Sprint/power; endurance; physical performance; polymorphism