Purpose 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.
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Funding This work was supported in part by a Grant-in-Aid for Young Scientists (A-21680050 and B-18700541 to NF), a Grant-in-Aid for Exploratory Research (20650113 to NF), a Grant-in-Aid for Scientific Research (A-15200051 to MT), and a Grant-in-Aid for the Global COE (Sport Sciences for the Promotion of Active Life to Waseda University) from the Ministry of Education, Culture, Sports, Science and Technology; by a research project in Japan Institute of Sports Sciences (to TK); and by grants for scientific research from The Uehara Memorial Foundation (to NF) and from The Takeda Science Foundation (to MT).
Competing interests None.
Ethics approval This study was conducted with the approval of the Japan Institute of Sports Sciences and Tokyo Metropolitan Institute of Gerontology.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.