RT Journal Article SR Electronic T1 Mitochondrial haplogroups associated with elite Japanese athlete status JF British Journal of Sports Medicine JO Br J Sports Med FD BMJ Publishing Group Ltd and British Association of Sport and Exercise Medicine SP 1179 OP 1183 DO 10.1136/bjsm.2010.072371 VO 45 IS 15 A1 Eri Mikami A1 Noriyuki Fuku A1 Hideyuki Takahashi A1 Nao Ohiwa A1 Robert A Scott A1 Yannis P Pitsiladis A1 Mitsuru Higuchi A1 Takashi Kawahara A1 Masashi Tanaka YR 2011 UL http://bjsm.bmj.com/content/45/15/1179.abstract AB 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.