Mitochondrial haplogroups associated with elite Japanese athlete status

Eri Mikami, Noriyuki Fuku, Hideyuki Takahashi, Nao Ohiwa, Robert A. Scott, Yannis P. Pitsiladis, Mitsuru Higuchi, Takashi Kawahara, Masashi Tanaka

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Purpose It has been hypothesised that certain mitochondrial haplogroups, which are defi ned 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 classifi ed 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.

Original languageEnglish
Pages (from-to)1179-1183
Number of pages5
JournalBritish Journal of Sports Medicine
Volume45
Issue number15
DOIs
Publication statusPublished - 2011 Dec

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Athletes
Mitochondrial DNA
NADH Dehydrogenase

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation

Cite this

Mikami, E., Fuku, N., Takahashi, H., Ohiwa, N., Scott, R. A., Pitsiladis, Y. P., ... Tanaka, M. (2011). Mitochondrial haplogroups associated with elite Japanese athlete status. British Journal of Sports Medicine, 45(15), 1179-1183. https://doi.org/10.1136/bjsm.2010.072371

Mitochondrial haplogroups associated with elite Japanese athlete status. / Mikami, Eri; Fuku, Noriyuki; Takahashi, Hideyuki; Ohiwa, Nao; Scott, Robert A.; Pitsiladis, Yannis P.; Higuchi, Mitsuru; Kawahara, Takashi; Tanaka, Masashi.

In: British Journal of Sports Medicine, Vol. 45, No. 15, 12.2011, p. 1179-1183.

Research output: Contribution to journalArticle

Mikami, E, Fuku, N, Takahashi, H, Ohiwa, N, Scott, RA, Pitsiladis, YP, Higuchi, M, Kawahara, T & Tanaka, M 2011, 'Mitochondrial haplogroups associated with elite Japanese athlete status', British Journal of Sports Medicine, vol. 45, no. 15, pp. 1179-1183. https://doi.org/10.1136/bjsm.2010.072371
Mikami E, Fuku N, Takahashi H, Ohiwa N, Scott RA, Pitsiladis YP et al. Mitochondrial haplogroups associated with elite Japanese athlete status. British Journal of Sports Medicine. 2011 Dec;45(15):1179-1183. https://doi.org/10.1136/bjsm.2010.072371
Mikami, Eri ; Fuku, Noriyuki ; Takahashi, Hideyuki ; Ohiwa, Nao ; Scott, Robert A. ; Pitsiladis, Yannis P. ; Higuchi, Mitsuru ; Kawahara, Takashi ; Tanaka, Masashi. / Mitochondrial haplogroups associated with elite Japanese athlete status. In: British Journal of Sports Medicine. 2011 ; Vol. 45, No. 15. pp. 1179-1183.
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abstract = "Purpose It has been hypothesised that certain mitochondrial haplogroups, which are defi ned 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 classifi ed 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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AU - Scott, Robert A.

AU - Pitsiladis, Yannis P.

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N2 - Purpose It has been hypothesised that certain mitochondrial haplogroups, which are defi ned 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 classifi ed 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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