Background: The relationship between bone metabolism-related gene polymorphisms and low bone mineral density (BMD) risk factors in female athletes is unclear. This study aimed at investigating whether the sensitivity of low BMD risk factors to BMD depends on estrogen receptor α (ERα) gene polymorphisms in Japanese female athletes. Materials and Methods: This study included 280 collegiate female athletes from 12 competitive sports (age, 19.2 ± 1.3 years). Data on sports participation, age at menarche, menstrual cycles, prior stress fractures, and prior eating disorders were obtained through a questionnaire-type survey. Sports types were classified into endurance, esthetic, aquatic, ball, and high load in consideration of exercise load characteristics. ERα gene Pvu II (rs2234693) and Xba I (rs9340799) polymorphisms were analyzed by TaqMan ® assay. The total body BMD was measured by dual-energy X-ray absorptiometry. Results: On multiple regression analysis, sports types, body mass index (BMI), menarche, and Xba I polymorphism remained robust independent predictors of BMD. However, prior stress fractures and menstrual cycles were excluded. In athletes carrying the XX+Xx genotype of Xba I polymorphism, sports types and BMI were associated with BMD. However, in athletes carrying the xx genotype of Xba I polymorphism, sports types, BMI, and menarche were associated with BMD. These results indicated that athletes carrying the xx genotype with delayed menarche had low BMD. Conclusions: In collegiate female athletes, participation in endurance, esthetic, and aquatic sports types and a low BMI are associated with low BMD. In addition, delayed menarche may negatively affect BMD in athletes carrying the xx type of ERα gene Xba I polymorphism.
The aim of this study was to clarify the relationships between muscle power and bone mineral density (BMD) and the α-actinin-3 (ACTN3) R577X polymorphism in Japanese female collegiate athletes participating in sports with various mechanical-load characteristics. This study included 260 female collegiate athletes involved in 10 competitive sports and 26 controls (mean ages, 19.2 ± 1.2 and 19.7 ± 1.3 years, respectively). The sports were classified into 3 categories (low-impact, multidirectional, and high-impact) based on the exercise load characteristics. Data on sports participation and competition experience were obtained through a questionnaire-type survey. The maximum anaerobic power (MAnP) test was performed to measure muscle power. The total body BMD was measured using dual-energy X-ray absorptiometry. The ACTN3 R577X polymorphism (rs1815739) was analyzed using a TaqMan® assay. The multidirectional sports participants with the RR genotype of the ACTN3 R577X polymorphism had a higher BMD than those with the RX and RX + XX genotypes (P = .018 and P = .003, respectively). The RR genotype was also associated with a higher MAnP than those with the RX + XX genotypes (P = .035). No other variables related to BMD and MAnP were significantly different. Our results suggests that the RR genotype may confer high trainability for BMD and muscle power in Japanese female collegiate athletes participating in multidirectional sport types. However, these associations were not found in the athletes participating in the low-and high-impact sport types.Abbreviations: ACTN3 = α-actinin-3, BMD = bone mineral density, BMI = body mass index, DEXA = dual-energy X-ray absorptiometry, MAnP = maximum anaerobic power, PCR = polymerase chain reaction.
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...
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