International Journal of Sports Medicine (accepted)
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ABSTRACT: Mitochondrial DNA (mtDNA) variation has recently been suggested to have an association with athletic performance or physical endurance. Since mtDNA is haploid and lacks recombination, specific mutations in the mtDNA genome associated with human exercise tolerance or intolerance arise and remain in particular genetic backgrounds referred to as haplogroups. To assess the possible contribution of mtDNA haplogroup-specific variants to diff erences in elite athletic performance, we performed a population-based study of 152 Korean elite athletes [77 sprint/power athletes (SPA) and 75 endurance/middle-power athletes (EMA)] and 265 non-athletic controls (CON). The overall haplogroup distribution of EMA differed significantly from CON ( p < 0.01), but that of SPA did not. The EMA have an excess of haplogroups M * (OR 4.38, 95 % CI 1.63–11.79, p = 0.003) and N9 (OR 2.32, 95 % CI 0.92–5.81, p = 0.042), but a
dearth of haplogroup B (OR 0.26, 95 % CI 0.09–0.75, p = 0.003) compared with the CON. Thus, our data imply that specific mtDNA lineages may provide a significant eff ect on elite Korean endurance status, although functional studies with larger sample sizes are necessary to further substantiate these findings.
ABSTRACT: The aim of this study is to assess the possible contribution of the ratio of the length of second-to-fourth digits (2D:4D) and angiotensin-converting enzyme (ACE) gene variants to differences in elite athletic performance. We have therefore examined a population-based association study in 151 Korean elite athletes and 183 controls with the digit ratio (2D:4D) and I/D polymorphism of ACE gene. Genotype distribution of the ACE gene showed no significant deviation from Hardy-Weinberg equilibrium in both groups of elite athletes and controls. No statistically significant difference in the distribution of the ACEgenotype frequency was observed between the elite athletes and control groups. In contrast, the digit ratio (2D:4D) appeared to be statistically significant difference between the elite athletes and control groups (p<0.001), although there was no genotype effect of the ACE gene on the digit ratio (2D:4D) in this survey. Thus, our data are consistent with hypothesis that digit ratios, as markers for prenatal testosterone action may provide a significant effect on elite athlete status, although larger sample sizes functional studies are necessary to further substantiate these findings.
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