title: Mitochondrial haplogroups associated with elite Japanese athlete status.
abstract: OBJECTIVE
  It has been hypothesised that certain mitochondrial haplogroups, which are defined by the presence of a characteristic cluster of tightly linked mitochondrial DNA polymorphisms, would be associated with elite Japanese athlete status. To examine this hypothesis, the frequencies of mitochondrial haplogroups found in elite Japanese athletes were compared with those in the general Japanese population.
  
  
  METHODS
  Subjects comprised 139 Olympic athletes (79 endurance/middle-power athletes (EMA), 60 sprint/power athletes (SPA)) and 672 controls (CON). Two mitochondrial DNA fragments containing the hypervariable sequence I (m16024-m16383) of the major non-coding region and the polymorphic site at m.5178C>A within the NADH dehydrogenase subunit 2 gene were sequenced, and subjects were classified into 12 major mitochondrial haplogroups (ie, F, B, A, N9a, N9b, M7a, M7b, M*, G2, G1, D5 or D4). The mitochondrial haplogroup frequency differences among EMA, SPA and CON were then examined.
  
  
  RESULTS
  EMA showed an excess of haplogroup G1 (OR 2.52, 95% CI 1.05 to 6.02, p=0.032), with 8.9% compared with 3.7% in CON, whereas SPA displayed a greater proportion of haplogroup F (OR 2.79, 95% CI 1.28 to 6.07, p=0.007), with 15.0% compared with 6.0% in CON.
  
  
  CONCLUSIONS
  The results suggest that mitochondrial haplogroups G1 and F are associated with elite EMA and SPA status in Japanese athletes, respectively.
authors.affiliation: Graduate School of Sport Sciences, Waseda University, Saitama, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Mikami
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Takahashi
authors.forename: Nao
authors.initials: N
authors.lastname: Ohiwa
authors.forename: Robert A
authors.initials: RA
authors.lastname: Scott
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Higuchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Kawahara
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
mesh_terms: D044466:Asian People / Q000235:genetics*; D054874:Athletic Performance / Q000502:physiology*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics; D009245:NADH Dehydrogenase / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; C521326:NADH dehydrogenase subunit 2, human