Abstract
The aim of this study was to examine a polygenic profile related to endurance performance, based on current knowledge, in the Japanese population. We analyzed 21 genetic polymorphisms that have been reported to be associated with endurance performance and its related phenotypes in 175 endurance runners (60 international‐, 94 national‐, and 21 regional‐level) and 649 controls in the Japanese population. Then, we calculated the total genotype score (TGS) (maximum value of 100 for the theoretically optimum polygenic score) for endurance performance. There was no association between the TGS and endurance athlete status (Control: 49.0 ± 7.6, Regional: 47.3 ± 7.6, National: 49.1 ± 5.7, and International: 48.2 ± 7.0, P = 0.626). These results suggested that TGSs based on the 21 previously published endurance performance‐associated polymorphisms do not influence endurance running performance in the Japanese population. Nevertheless, some marginal tendencies have to be noted: the frequencies of the ACTN3 R577X rs1815739 RR+RX genotype and the GNB3 rs5443 CC+CT genotype were higher in international athletes than in controls (85% vs. 73.6%, P = 0.042 and 90% vs. 76%, P = 0.007, respectively), but not significantly different after Bonferroni correction.
Highlights
Elite athletic status is a complex trait resulting from the interaction of numerous factors including training methods, socio-economic aspects, psychology, technology, injury history or diet, and genetic endowment is one of the many factors that affect athletic endurance performance
All the polymorphisms were in HWE, excepted PPARGC1B rs7732671 polymorphism, which was excluded from further analysis
The polymorphisms ACTN3 rs1815739 and GNB3 rs5443 have been shown to be linked with international athlete status (Table 2)
Summary
Elite athletic status is a complex trait resulting from the interaction of numerous factors including training methods, socio-economic aspects, psychology, technology, injury history or diet, and genetic endowment is one of the many factors that affect athletic endurance performance. Multiple Genetic Polymorphisms and Japanese Endurance Athlete Status polymorphisms associated with elite endurance athlete status and physical performance traits such as maximum oxygen uptake, energetic metabolism, and muscle strength or mass (Ahmetov and Fedotovskaya 2015; Loos et al 2015). The number of these potential polymorphisms is increasing each year, and it is accepted that physical performance is highly polygenic (Miyamoto-Mikami et al 2016). The purpose of this study was to examine the association between a polygenic profile based on current knowledge and endurance athlete status in the Japanese population
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