单倍群
线粒体DNA
人线粒体DNA单倍型
遗传学
线粒体dna控制区
生物
运动员
等位基因频率
单倍型
等位基因
医学
基因
物理疗法
作者
Eri Miyamoto‐Mikami,Noriyuki Fuku,Hideyuki Takahashi,Nao Ohiwa,Yannis P. Pitsiladis,Mitsuru Higuchi,Takashi Kawahara,Masashi Tanaka
标识
DOI:10.1249/01.mss.0000402824.28806.d5
摘要
Mitochondrial haplogroups G1 and F derived from the analysis of haplogroup-specific polymorphisms in the control region (hypervariable sequence I) of mitochondrial DNA (mtDNA) were found to associate with elite Japanese athlete status (Mikami et al, Br J Sports Med, 2010 [Epub ahead of print]). The mitochondrial DNA control region contains various non-haplogroup-specific polymorphisms that have previously been found to associate with trainability in VO2max, metabolic syndrome and type 2 diabetes mellitus; all closely related to mitochondrial function. PURPOSE: To identify the polymorphisms in the control region of mtDNA that may significantly association with elite Japanese athlete status. METHODS: Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (i.e. 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON) (http://mtsnp.tmig.or.jp/mtsnp/index.shtml). The mtDNA control region (m.16024-576) was analyzed by direct sequencing and polymorphisms were identified by comparison with the revised Cambridge Reference Sequence. Frequency differences of polymorphisms between athletes and controls were examined by Chi-square tests. RESULTS: When the frequencies of common polymorphisms (minor allele frequency >1%) in the mtDNA control region were compared between athletes and controls, the frequencies of 4 polymorphisms were significantly different between EMA and CON (m.16140T>C, m.152T>C, m.514delCA and poly-C stretch at m.568-573) and another 4 polymorphisms between SPA and CON (m.16278C>T, m.151C>T, m.203G>A and m.204T>C). Two of these polymorphisms, namely m.151C>T (EMA-related polymorphism) and m.152T>C (SPA-related polymorphism), are located near the second heavy-strand replication origin, and m.151C>T has been associated with increased mtDNA content in patients with type 2 diabetes mellitus. CONCLUSIONS: These findings suggest that several polymorphisms detected in the control region of mtDNA may influence physical performance due to changes in transcription and replication of mtDNA.
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