Yvert Thomas, Miyamoto-Mikami Eri, Murakami Haruka, Miyachi Motohiko, Kawahara Takashi, Fuku Noriyuki
Graduate School of Health and Sports Science, Juntendo University, Inzai-city, Chiba, Japan.
Japan Society for the Promotion of Science, Chiyoda-ku, Tokyo, Japan.
Physiol Rep. 2016 Oct;4(20). doi: 10.14814/phy2.13003. Epub 2016 Oct 24.
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.
本研究的目的是基于现有知识，在日本人群中研究与耐力表现相关的多基因特征。我们分析了21种基因多态性，这些多态性据报道与耐力表现及其相关表型有关，研究对象为175名耐力跑运动员（60名国际水平、94名国家水平和21名地区水平）以及649名日本人群中的对照者。然后，我们计算了耐力表现的总基因型评分（TGS）（理论上最优多基因评分的最大值为100）。TGS与耐力运动员状态之间无关联（对照组：49.0±7.6，地区组：47.3±7.6，国家组：49.1±5.7，国际组：48.2±7.0，P = 0.626）。这些结果表明，基于先前公布的21种与耐力表现相关的多态性得出的TGS不会影响日本人群的耐力跑表现。然而，一些边缘趋势值得注意：ACTN3 R577X rs1815739 RR + RX基因型和GNB3 rs5443 CC + CT基因型在国际运动员中的频率高于对照组（分别为85%对73.6%，P = 0.042和90%对76%，P = 0.007），但在Bonferroni校正后无显著差异。
