The ACTN3 R577X genotype has been found to associate with sprint/power phenotypes in all elite athlete cohorts investigated. This association has not been extensively studied in elite Asian athletes. The present study was undertaken to investigate the association between the ACTN3 R577X genotype and elite Japanese track and field athlete status. 299 elite Japanese track and field athletes (134 sprint/power athletes; 165 endurance/middle-power athletes) and 649 Japanese controls were genotyped for the ACTN3 R577X polymorphism. All athletes were of national or international level. Sprint/power athletes showed a higher frequency of RR+RX genotype than controls (111/134 [82.8%] vs. 478/649 [73.7%], P=0.025 under the R-dominant model), while there was no significant difference between endurance/middle-power athletes and controls (126/165 [76.4%] vs. 478/649 [73.7%], P=0.48 under the R-dominant model). Sprinters with the RR+RX genotype had significantly faster personal best times for the 100 m than those with XX genotype (10.42±0.05 s vs. 10.64±0.09 s, P=0.042); no such association was found in the 400 m sprinters (47.02±0.36 s vs. 47.56±0.99 s, P=0.62). ACTN3 R577X genotype is associated with sprint/power performance in elite Japanese track and field athletes, especially short sprint performance.
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