In this study, we investigated whether the ACTN3 R577X polymorphism is associated with muscular power in Japanese collegiate athletes by analyzing the mean and peak power results of a 30-second Wingate anaerobic test (WAnT) with respect to the ACTN3 R577X genotype in 253 Japanese athletes (144 men and 109 women). Each athlete performed a 30-second WAnT with a resistance equal to 7.5% of his or her body weight. Genotyping for the ACTN3 R577X (rs1815739) polymorphism was performed using the TaqMan approach. The ACTN3 R577X genotypes exhibited a Hardy-Weinberg equilibrium distribution in our population. The relative and absolute mean power results of the 30-second WAnT did not differ significantly among the genotypes. However, the relative peak power result of the WAnT was significantly higher in the R-allele-dominant model groups than in the XX group in male but not female athletes. These results suggest that the ACTN3 R allele is associated with the relative peak power during the WAnT in male Japanese collegiate athletes.

Purpose:To examine the relationship between ACTN3 polymorphisms and level of athletic performance in Japanese wrestlers.Methods:The control group consisted of 243 healthy Japanese individuals. The authors divided 135 wrestlers into 3 groups based on their results in national or international competitions. They classified as elite 24 wrestlers who had placed in the top 8 in a world championship or participated in Olympic games, 28 wrestlers who had participated in world championships or become champions in Japan’s national championships were classified as subelite, and 83 wrestlers were classified as national (N-W, ie, national-level wrestler). In addition, the authors combined the elite and subelite to form the classification international-level wrestlers (I-W).Results:The frequency of the null X allele and the XX genotype were significantly lower in the I-W group than in the control group. However, there was no significant difference in ACTN3 genotype or allele frequency between the N-W and control groups. The frequency of the ACTN3 XX genotype in the elite groups was lower than that of all groups, and a linear tendency was observed between ACTN3 XX genotype and athletic status.Conclusions:In conclusion, the data indicated that ACTN3 polymorphisms were related to athletic performance in Japanese wrestlers.

In this study, the authors investigated the association between the ACTN3 and angiotensin-converting enzyme (ACE) genotypes and the performance of 135 Japanese elite male wrestlers. Fifty-two wrestlers had participated in world championships, including the Olympic Games, or had placed first in Japanese national championships and were classified as "international." The remaining 83 wrestlers were classified as "national." The control group consisted of 333 healthy Japanese college students majoring in physical education. In the ACTN3 genotype distribution, a significant difference between the international and control groups was observed (p < 0.05). The ACE genotype distribution and allele frequency of all wrestlers significantly differed from those of the control subjects (p < 0.001). As compared with the control group, the odds ratio of the ACTN3 R allele + ACE DD genotype being international or national was 3.85 (95% confidence interval [CI], 2.10-7.03) or 1.37 (95% CI, 0.79-2.36), respectively. Our data suggest that the combination of ACTN3 and ACE gene polymorphisms is associated with the athletic status of Japanese elite wrestlers.

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CONCLUSIONS:The GEAR study represents an effective approach for training multi-ethnic sedentary employees to engage in regular exercise and results in overall improvements in fitness. However, observed variation in exercise response within this cohort suggests that genetic factors may modify the effectiveness of such an exercise intervention. (No relationships reported)Mitochondrial haplogroups G1 and F derived from the analysis of haplogroup-specific polymorphisms in the control region (hypervariable sequence I) of mitochondrial DNA (mtDNA) were found to associate with elite Japanese athlete status (Mikami et al, Br J Sports Med, 2010 [Epub ahead of print]). The mitochondrial DNA control region contains various non-haplogroup-specific polymorphisms that have previously been found to associate with trainability in VO2max, metabolic syndrome and type 2 diabetes mellitus; all closely related to mitochondrial function. PURPOSE:To identify the polymorphisms in the control region of mtDNA that may significantly association with elite Japanese athlete status. METHODS:Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (i.e. 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON) (http://mtsnp.tmig.or.jp/mtsnp/index.shtml). The mtDNA control region (m.16024-576) was analyzed by direct sequencing and polymorphisms were identified by comparison with the revised Cambridge Reference Sequence. Frequency differences of polymorphisms between athletes and controls were examined by Chi-square tests. RESULTS:When the frequencies of common polymorphisms (minor allele frequency >1%) in the mtDNA control region were compared between athletes and controls, the frequencies of 4 polymorphisms were significantly different between EMA and CON (m.16140T>C, m.152T>C, m.514delCA and poly-C stretch at m.568-573) and another 4 polymorphisms between SPA and CON (m.16278C>T, m.151C>T, m.203G>A and m.204T>C). Two of these polymorphisms, namely m.151C>T (EMA-related polymorphism) and m.152T>C (SPA-related polymorphism), are located near the second heavy-strand replication origin, and m.151C>T has been associated with increased mtDNA content in patients with type 2 diabetes mellitus. CONCLUSIONS:These findings suggest that several polymorphisms detected in the control region of mtDNA may influence physical performance due to changes in transcription and replication of mtDNA.(No relationships reported) BACKGROUND: Little is known about subcutaneous body fat patterns (SBFP) of children and adolescents from developing countries living in adverse conditions. In addition, the magnitudes of genetic and environmental factors are not very well known. PURPOSE:To describe SBFP and its genetic and environmental factors in siblings from an African rural area.METHODS:Siblings belonging to 131 families were sampled (total sample=330; girls, 10.71±2.62 years of age; boys, 11.56±3.13 years of age) from Calanga, a rural area of Mozambique. Six skinfolds (triceps, su...