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.
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.
Authors: Stephen M Roth; Tuomo Rankinen; James M Hagberg; Ruth J F Loos; Louis Pérusse; Mark A Sarzynski; Bernd Wolfarth; Claude Bouchard Journal: Med Sci Sports Exerc Date: 2012-05 Impact factor: 5.411
Authors: C G M Santos; N G Rolim-Filho; C A Domingues; M Dornelas-Ribeiro; J L King; B Budowle; R S Moura-Neto; R Silva Journal: Braz J Med Biol Res Date: 2021-04-26 Impact factor: 2.590
Authors: Tuomo Rankinen; Noriyuki Fuku; Bernd Wolfarth; Guan Wang; Mark A Sarzynski; Dmitry G Alexeev; Ildus I Ahmetov; Marcel R Boulay; Pawel Cieszczyk; Nir Eynon; Maxim L Filipenko; Fleur C Garton; Edward V Generozov; Vadim M Govorun; Peter J Houweling; Takashi Kawahara; Elena S Kostryukova; Nickolay A Kulemin; Andrey K Larin; Agnieszka Maciejewska-Karłowska; Motohiko Miyachi; Carlos A Muniesa; Haruka Murakami; Elena A Ospanova; Sandosh Padmanabhan; Alexander V Pavlenko; Olga N Pyankova; Catalina Santiago; Marek Sawczuk; Robert A Scott; Vladimir V Uyba; Thomas Yvert; Louis Perusse; Sujoy Ghosh; Rainer Rauramaa; Kathryn N North; Alejandro Lucia; Yannis Pitsiladis; Claude Bouchard Journal: PLoS One Date: 2016-01-29 Impact factor: 3.240