To the best of our knowledge, this study included the largest number of Japanese athletes among similar studies performed to date and therefore provides useful insight into the role of the ACTN3 R577X genotype in trained individuals. Our major finding is that the ACTN3 R allele, especially when homozygous, influences the relative WAnT peak power of Japanese male athletes. We also showed by regression analysis that the ACTN3 R577X genotype accounts for approximately 4.6% of the variance in the relative peak power result of the WAnT in Japanese male athletes.
Two major energy sources are required during the WAnT. The first is the adenosine triphosphate-phosphocreatine system, which lasts only for 3–15 seconds during maximum effort. The second system is anaerobic glycolysis, which can be sustained for the remainder of the all-out effort. The peak power recorded is the maximal power output achieved for 5 seconds, usually the first 5 seconds, of the WAnT (27). We found that the ACTN3 R allele was associated with the relative peak power result of the WAnT in the male Japanese athletes. Because the peak power was observed within the first 5 seconds of the test in all subjects, this result suggests that athletes with the R allele may possess a higher-capacity phosphagen system, and we cannot exclude the possibility that the glycolytic system is also affected by the ACTN3 genotype.
We also found that 4.6% of the variability in the relative peak power result of the WAnT among the male Japanese athletes was attributable to the ACTN3 R577X genotype. A previous study on the general population reported that the ACTN3 R577X polymorphism is responsible for 1–2% of the variation in muscle strength (3,24). However, no association between the ACTN3 R577X genotype and the muscle power results of the WAnT was reported in individuals who were active but not athletes (9,22). On the other hand, Massidda et al. (15) reported that the ACTN3 R577X genotype accounted for 8.0% of the variation in squat-jump performance in elite soccer players. These results suggest that the contribution of the ACTN3 R577X genotype becomes more apparent in competitive athletes, as we had hypothesized. We propose that the contribution of the ACTN3 R allele manifests during strenuous sporting activities, as shown in this study.
In this study, we examined the relationship between a single genetic factor and anaerobic performance in Japanese athletes. We also recently showed a significant relationship between a combination of 2 polymorphisms (ACTN3 R577X and ACE I/D) and elite performance (11). However, a comprehensive understanding requires consideration of potential confounding factors such as other polymorphisms and environmental factors.
Therefore, individuals with the XX genotype, being completely deficient in the α-actinin-3 protein, exhibit inferior skeletal muscle function in terms of force generation from contraction or a poor ability to recover from high-intensity intermittent exercise. These factors might predict some aspects of response to training and thus provide useful information for strength and conditioning coaches.
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