Lack of replication of associations between multiple genetic polymorphisms and endurance athlete status in Japanese population

Thomas Yvert, Eri Miyamoto-Mikami, Haruka Murakami, Motohiko Miyachi, Takashi Kawahara, Noriyuki Fuku*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

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.

Original languageEnglish
Article numbere13003
JournalPhysiological Reports
Volume4
Issue number20
DOIs
Publication statusPublished - 2016 Oct 1
Externally publishedYes

Keywords

  • Endurance runner
  • genotype score
  • physical performance
  • polymorphism

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)

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