1] Graduate School of Sport Sciences, Waseda University, Saitama, Japan [2] Japan Society for the Promotion of Science, Tokyo, Japan [3] Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
J Hum Genet. 2013 Dec;58(12):780-7. doi: 10.1038/jhg.2013.102. Epub 2013 Oct 10.
The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The entire mtDNA sequences (16 569 bp) were analyzed by direct sequencing. Nucleotide variants were detected at 1488 sites in the 857 entire mtDNA sequences. A total of 311 variants were polymorphisms (minor allele frequency 1% in CON), and the frequencies of these polymorphisms were compared among the three groups. The EMA displayed excess of seven polymorphisms, including subhaplogroup D4e2- and D4g-specific polymorphisms, compared with CON (P<0.05), whereas SPA displayed excess of three polymorphisms and dearth of nine polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, compared with CON (P<0.05). The frequencies of 10 polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, were different between EMA and SPA (P<0.05): although none of these polymorphisms differed significantly between groups after correcting for multiple comparison (false discovery rate q-value 0.05). The number of rare variants in the 12S ribosomal RNA and NADH dehydrogenase subunit I genes were also higher in SPA than in CON (P<0.05). Analysis of the entire mtDNA of elite Japanese athletes revealed several haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.
本研究的目的是鉴定与日本精英运动员身份相关的线粒体 DNA（mtDNA）多态性和罕见变异。研究对象包括 185 名曾代表日本参加国际比赛的日本精英运动员（即 100 名耐力/中功率运动员：EMA；85 名短跑/力量运动员：SPA）和 672 名日本对照（CON）。通过直接测序分析了整个 mtDNA 序列（16569bp）。在 857 个整个 mtDNA 序列中检测到 1488 个核苷酸变异。共有 311 个变异为多态性（CON 中的杂合子频率为 1%），并比较了这三个组之间的这些多态性的频率。与 CON 相比，EMA 显示出七个多态性的过剩，包括亚单倍群 D4e2-和 D4g 特异性多态性（P<0.05），而 SPA 显示出三个多态性的过剩和九个多态性的缺乏，包括单倍群 G-和亚单倍群 G2a 特异性多态性（P<0.05）。包括单倍群 G-和亚单倍群 G2a 特异性多态性在内的 10 个多态性的频率在 EMA 和 SPA 之间存在差异（P<0.05）：尽管在进行多次比较校正后（错误发现率 q 值为 0.05），这些多态性在组间没有显著差异。在 12S 核糖体 RNA 和 NADH 脱氢酶亚单位 I 基因中的稀有变异的数量也在 SPA 中比 CON 中更高（P<0.05）。对日本精英运动员的整个 mtDNA 进行分析发现，几个单倍群和亚单倍群特异性多态性可能与日本精英运动员的身份相关。
