ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes

Abstract

Aim: 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.