PT  - JOURNAL ARTICLE
AU  - Mikami, Eri
AU  - Fuku, Noriyuki
AU  - Takahashi, Hideyuki
AU  - Ohiwa, Nao
AU  - Scott, Robert A
AU  - Pitsiladis, Yannis P
AU  - Higuchi, Mitsuru
AU  - Kawahara, Takashi
AU  - Tanaka, Masashi
TI  - Mitochondrial haplogroups associated with elite Japanese athlete status
AID  - 10.1136/bjsm.2010.072371
DP  - 2011 Dec 01
TA  - British Journal of Sports Medicine
PG  - 1179--1183
VI  - 45
IP  - 15
4099  - http://bjsm.bmj.com/content/45/15/1179.short
4100  - http://bjsm.bmj.com/content/45/15/1179.full
SO  - Br J Sports Med2011 Dec 01; 45
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.