ACTN3 Research Articles

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes.

The performance of professional strength and power athletes is influenced, at least partly, by genetic components. The main aim of this study was to investigate individually and in combination the association of ACE (I/D), ACTN3 (R577X) and PPARGC1A (Gly482Ser) gene polymorphisms with strength/power-oriented athletes’ status in two cohorts of European athletes. A cohort of European Caucasians from Russia and Lithuania (161 athletes: by groups – weightlifters (87), powerlifters (60), throwers (14); by elite status – ‘elite’ (104), ‘sub-elite’ (57); and 1,202 controls) were genotyped for ACE, ACTN3 and PPARGC1A polymorphisms. Genotyping was performed by polymerase chain reaction and/or restriction fragment length polymorphism analysis. Statistically significant differences in ACTN3 (R577X) allele/genotype distribution were not observed in the whole cohort of athletes or between analysed groups separately when compared with controls. The odds ratio for athletes compared to controls of the ACE I/I genotype was 1.71 (95% CI 1.01-2.92) in the Russian cohort and for the ACE I/D genotype it was 2.35 (95% CI 1.10-5.06) in the Lithuanian cohort. The odds ratio of being a powerlifter in PPARGC1A Ser/Ser genotype carriers was 2.11 (95% CI: 1.09-4.09, P = 0.026). The ACTN3 (R577X) polymorphism is not associated with strength/power athletic status in two cohorts of European athletes. The ACE I/I genotype is probably the ‘preferable genotype’ for Russian athletes and the ACE I/D genotype for Lithuanian strength/power athletes. We found that the PPARGC1A (Gly482Ser) polymorphism is associated with strength/power athlete status. Specifically, the PPARGC1A Ser/Ser genotype is more favourable for powerlifters compared to controls.

ACTN3 Genotype Affects Change in Muscle Fiber Cross-Sectional Area from Adolescence to Adulthood

INTRODUCTION: Alpha-actinin-3 is a Z-disc protein that is expressed only in type II muscle fibers. Common null polymorphism in the ACTN3 gene (R577X) results in lack of this protein in XX-genotypes. In sprint/power oriented elite athletes the prevalence of the X-allele is much lower than in control populations. That implies that lack of alpha-actinin-3 is detrimental for these athletes but a mechanistic link is not fully established. We have previously shown that ACTN3 genotype modulates skeletal muscle hypertrophy signaling in response to sprint exercise in moderately trained subjects. PURPOSE: To examine the impact of ACTN3 genotype on changes in fiber dimensions from adolescence to adulthood. METHODS: 63 male and female subjects (13 XX, 29 RX, 21 RR) from the general Swedish population were studied at 16 and 27 years of age. Their physical activity level was estimated by a questionnaire. Muscle samples were obtained from vastus lateralis muscle by needle biopsy technique. The samples were analyzed histochemically for fiber types (I, IIA, IIB). Cross-sectional area (CSA) of the different fiber types was measured from histological sections by planimetry. DNA was extracted from muscle samples and the genotyping was performed by allelic discrimination. Statistical analyses of the effect of ACTN3 and sex on changes in CSA with age were performed by ANOVA and multiple regression analysis. RESULTS: A significant difference in the relative change of CSA with age, across ACTN3 genotypes was observed in type IIA fibers (ANOVA P=0.02) but not in type I fibers and type IIB fibers. The change, expressed as 27-16 years/16-years value, was in type IIA fibers -4.2%, -2.5% and 7.7% in XX, RX and RR respectively and in type IIB -3.0%, -3.4%, and 9.9% in XX, RX and RR respectively. Multiple regression analysis showed that the change in CSA of type IIA fibers was dependent on ACTN3 genotype, while the change in CSA of type IIB was equally dependent on ACTN3 genotype and sex. No ACTN3 genotype effect was observed for the CSA change in type I fibers where alpha-actinin-3 is not expressed. No significant differences in CSA were detected across ACTN3 genotypes either at 16 or 27 years. CONCLUSION: ACTN3 genotype is strongly suggested to be a determinant of dimensions of type II skeletal muscle fibers in humans which supports the findings in ACNT3 knock out mice.

Progressive Resistance Training Modulates the Expression of ACTN2 and ACTN3 Genes and Proteins in the Skeletal Muscles

Purpose: Mammalian skeletal muscle has the two isoforms of actin binding protein, α-Actinin-2 and α-Actinin-3, which are located in the skeletal muscle Z-line where they cross-link the actin thin filaments. There is a common stop codon polymorphism R577X in the ACTN3 gene. Several association studies have demonstrated that the ACTN3 R577X genotype influences athletic performance. The response of α-Actinins to resistance exercise training is little understood. Methods: Female Sprague-Dawley rats were assigned to control (C; n = 10) and resistance training (T; n = 12) groups. Training consisted of climbing a ladder carrying a load suspended from the tail. After training, fast (Flexor halluces longus, FHL) and slow (Soleus) hind limb muscles from each group was examine to study the effect of resistance training on muscle mass. Gene expression and protein levels of both Actn3, Actn2 were examined. Results: The resistance trained group had a significantly greater absolute muscle mass in FHL (P=0.011). We also found that Actn3 and Actn2 gene expression levels increased significantly in FHL and Soleus muscles by mean factors of 2.16, and 2.91, respectively. α-Actinin-2 protein expression increased significantly in training group (P=0.025) while, α-actinin-3 protein expression remained similar in training & control groups (P=0.130). The most important finding of this study showed that both α-actinin-3 and α-actinin-2 mRNA levels were up-regulated after 8wk of resistance training (P≤0.05). Conclusion: Our results provide a new insight into the impact of progressive resistance training and evaluating the role of α-actinins responsiveness.

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.

α-Actinin-3 is primarily expressed in fast (Type II) fibers in the human skeletal muscle. Over 70% of the global population has at least one copy of a loss of function allele because of a premature stop codon in the ACTN3 gene (R577X). Homozygosity for this variant (577XX) occurs in approximately 16% of humans worldwide and results in complete α-actinin-3 deficiency, which is detrimental to sprint/power performance and alters adaptation to changing physical demands. The functional implications of α-actinin-3 deficiency have been the subject of over 90 studies; however, the effect of heterozygosity for the ACTN3 null allele is not well documented or understood. We reviewed the literature to focus on the most common ACTN3 genotype (577RX) and its effect on human muscle performance. Specifically, we aimed to determine whether the ACTN3 X allele exerts its effect on human performance only when two copies are present (i.e., in an autosomal recessive fashion). Across a spectrum of conditions, three genotype models (additive, dominant, and recessive) were reported. Most studies assessing healthy adults demonstrated that 577RX heterozygotes performed intermediately (additive model) and/or similarly to the RR genotypes (recessive model). Other studies, (aging, disease/injury, elite sprint performance) showed no definitive genetic model. Assessment of the biological link between dosage, regulation, and function for each ACTN3 genotype is required to improve our understanding of its functional effect and biological penetrance in healthy, aging, and disease populations.

The ACTN3 R577X polymorphism affects the lipid profile and the prognosis of nutritional intervention in HIV-positive patients

The hypothesis of the present study is that the polymorphisms in the APOC3, CEPT, ACE, and ACTN3 genes can affect the outcome of nutritional intervention and the plasma lipid profile of HIV+ patients. To test the hypothesis, genetic material was collected from buccal cells, and serum was collected for biochemical analysis. Sixty-five patients were analyzed. The incorporation of protease inhibitor (PI) was more frequent in women (77% vs 33% in men). Nutritional intervention improved anthropometric parameters independent of the genotype. Patients with the RR genotype for the ACTN3 R577X polymorphism had lower glycemia (RR = 95.4 ± 6.5 mg/dL, RX = 102.6 ± 10.6 mg/dL, XX = 110.1 ± 16.3 mg/dL; P = .03) and a greater reduction in low-density lipoproteins (LDL) after intervention (LDL: RR = −23.7 ± 15.8 mg/dL, RX = 1.32 ± 5.13 mg/dL, XX = 30.21 ± 24.4 mg/dL; P = .01). Patients using PI had a negative response to dietary intervention regarding the levels of high-density lipoprotein (−2.4 ± 1.70 with PI, 2.56 ± 1.60 mg/dL without PI; P = .02), very low density lipoprotein (0.84 ± 2.73 with IP, −5.46 ± 3.37 mg/dL without PI; P = .03), and triglycerides (1.79 ± 13.22 with PI, −34.00 ± 17.67 mg/dL without PI; P = .052). This response was also independent of the genotype (P > 0.05) and suggested the need for oral lipid-lowering drugs in all HIV+ patients using PI. Our results indicate that the ACTN3 R577X polymorphism is a good predictor of both the lipid profile and the prognosis of nutritional intervention in reducing LDL in HIV+ patients.

Prospects of Molecular Genetics in Sports Medicine

During the last two decades, sports medicine is increased and experienced a stage of rapid development, especially in such areas as the study of strength, endurance, sports injuries and psychology. Study of ongoing changes when performing exercises at the cellular and molecular levels led to the development of new areas in the sports science as known as genetic medicine that deals with the genetic basis of athletic phenotype. Around 66 % of the variance in athlete status is explained by genetic factors, the remaining variance is due to other factors such as training, nutrition, equipment, motivation, sleeping and epigenetics. Over the last two decades, at least 155 genetic markers (located in almost all chromosomes and mtDNA) were associated with elite athlete status (93 genetic markers with endurance and 62 markers with power/force). The number of identified genetic markers associated with sports activity, grew at a rate exponentially: in 1997 – 5 genes; in 2000 – 24 genes; in 2004 – 101 genes. During the last 19 years, found that at least 120 of genetic markers associated with elite athlete status (77 genetic markers related to endurance and 43 genetic marker settings capacity/power). Of the polymorphisms associated with sports endurance, the angiotensin-converting enzyme (ACE) and alpha actinin-3 (ACTN3) polymorphisms have been the most frequently studied, and meta-analyses have confirmed the associations. ACTN3 is absent in approximately 18% of European population, 25-29% of Japanese population and overall about 1.5 billion people in all countries. Therefore, to date, available genetic tests based on small sample sizes and the selected analytical methodology can lead to erroneous associations and to reassess the size of the effect, and of course, the use of such limited data does not allow us to predict athletic ability with high accuracy.

Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women.

[Purpose] Association of ACTN3 polymorphism with bone mineral density and the physical fitness of elderly women is still unclear. Therefore, this study investigated the association between ACTN3 genotype and bone mineral density, and the physical fitness of elderly women. [Subjects and Methods] Sixty-eight elderly women (67.38 ± 3.68 years) were recruited at a Seongbuk-Gu (Seoul, Korea) Medical Service Public Health Center. Measurements of physical fitness included muscle strength, muscle endurance, flexibility, agility, balance and VO2max. Bone mineral density (BMD), upper limb muscle mass, lower limb muscle mass, percent body fat and body fat mass for the entire body were measured by dual-energy X-ray absorptiometry and an analyzer. Genotyping for the ACTN3 R577X (rs1815739) polymorphism was performed using the TaqMan approach. [Results] ACTN3 gene distribution of subjects were in the Hardy-Weinberg equilibrium (p=0.694). The relative bone mineral density trunk, pelvis and spine differed significantly among the ACTN3 genotypes. There were no significant differences among bone mineral densities of the head, arms, legs, ribs and total, but the RR genotype tended to be higher than other genotypes. Physical fitness was not significantly different among the ACTN3 genotypes. [Conclusion] These results suggest that ACTN3 gene polymorphisms could be used as one of the genetic determinants of bone mass in elderly women, and in particular, they indicate that individuals with the RR genotype have higher BMD and bone mineral composition.

ACE and ACTN3 genes polymorphisms among female Hungarian athletes in the aspect of sport disciplines.

The aim of the study was to determine the importance of two sport-associated gene polymorphisms, alpha-actinin-3 R577X (ACTN3) and angiotensin-converting enzyme I/D (ACE), among Hungarian athletes in different sports. The examination was carried out only on women (n = 100). Sport-specific groups were formed in order to guarantee the most homogeneous clusters. Human genomic DNA was isolated from blood, and genotyping was performed by polymerase chain reaction. To measure the differences between the participating groups, Chi-squared test was performed using Statistica 9.0 for Windows® (significance level: p < 0.05). In comparing the ACE I/D allele frequencies, significant difference was detected between water polo (I = 61.11%; D = 38.89%) and combat sports (I = 35.71%, D = 64.29%) athletes (p < 0.03). There was no statistical difference when ACE I/D alleles in combat sports and kayaking/rowing (p > 0.05) were compared. A similarity was detectable in the I allele frequencies of the water polo (61.11%) and kayaking/rowing (56.67%) groups. The ACTN3 R/X polymorphism showed no differences in comparison with the sport groups. R allele frequencies were higher in every group compared to the X allele. The potential significance of the ACE I allele in sports of an aerobic nature was not clearly confirmed among Hungarian athletes.

Association of angiotensin-converting enzyme I/D and α-actinin-3 R577X genotypes with metabolic syndrome risk factors in Korean children

This study analysed the risk factors associated with metabolic syndrome through the interaction between ACTN3 and ACE gene polymorphism in Korean children. The subjects of the study consisted of elementary school students (n=788, age 10.10±0.07 yr). The anthropometric parameters, blood lipid profiles, and metabolic markers were compared among groups of the ACE I/D or the ACTN3 R577X polymorphisms. The subjects with the DD genotype showed significantly higher systolic blood pressure than the subjects with the II and ID genotype of the ACE gene polymorphism. XX genotype had significantly lower waist-hip ratio than those with RR genotype of the ACTN3 gene polymorphism. Also, the subjects with XX genotype exhibited significantly higher blood HDL cholesterol level than those with RR or RX genotype. The interaction of ACTN3 and ACE gene polymorphism in subjects having both ACE DD and ACTN3 RR genotypes demonstrated a significantly higher metabolic syndrome score than any other groups. The children having both ACTN3 RR or RX genotype and ACE DD genotype showed high systolic blood pressure and low blood HDL cholesterol level, which may be considered a high-risk in metabolic syndrome.

The Occurence of R577X Polymorphism of ACTN3 Gene in a Selected Group of Elite Fencers

The Occurence of R577X Polymorphism of ACTN3 Gene in a Selected Group of Elite Fencers

The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.

Homozygosity for a premature stop codon (X) in the ACTN3 “sprinter” gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2 years) from our Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study. Both males and females with the RR vs XX genotype achieved higher mean VO2 peak scores (47.8 ± 1.5 vs 43.2 ±1.8 ml/O2/min, p = 0.002) and exhibited higher resting systolic (115 ± 2 vs 105 ± mmHg, p = 0.027) and diastolic (69 ± 3 vs 59 ± 3 mmHg, p = 0.005) blood pressure suggesting a role for ACTN3 in the maintenance of vascular tone. We subsequently identified the expression of alpha-actinin 3 protein in pulmonary artery smooth muscle, which may explain the genotype-specific differences in cardiovascular adaptation to acute exercise. In addition, we utilized targeted serum metabolomics to distinguish between RR and XX genotypes, suggesting an additional role for the ACTN3 R577X polymorphism in human metabolism. Taken together, these results identify significant cardiometabolic effects associated with possessing one or more functional copies of the ACTN3 gene.

ACTN3 Polymorphism: Comparison Between Elite Swimmers and Runners.

BackgroundThe human ACTN3 gene encodes α-actinin-3, an actin-binding protein with a pivotal role in muscle structure and metabolism. A common genetic single nucleotide polymorphism (SNP) at codon 577 of the ACTN3 results in the replacement of an arginine (R) with a stop codon (X). The R allele is a normal functional version of the gene, whereas the X allele contains a sequence change that completely stops production of functional α-actinin-3 protein. The ACTN3 R577X polymorphism was found to be associated with power athletic performance especially among track and field athletes. The aim of the current study was to compare allelic and genotype frequencies of the ACTN3 R577X polymorphism among runners and swimmers specializing in different distances, and >non-athletic controls.MethodsOne hundred and thirty-seven runners, 91 swimmers and 217 controls, participated in the study. Runners were assigned to two subgroups according to their event specialty—long-distance runners (LDR) and short-distance runners (SDR). Swimmers were also assigned to two subgroups according to their main swimming event—long-distance swimmers (LDS) and short-distance swimmers (SDS). Genomic DNA was extracted from peripheral EDTA-treated anti-coagulated blood using a standard protocol. Genotypes were determined using the Taqman allelic discrimination assay.ResultsRunners’ genotype and allele differed significantly between LDR, SDR, and controls, with the lowest prevalence of RR genotype and R allele among LDR. XX genotype and X allele prevalence was significantly higher among LDR compared to the other groups (p < 0.01 for all). On the other hand, swimmers’ genotype and allele frequencies did not differ significantly between subgroups (LDS and SDS). Yet, LDS had significantly higher RR genotype and R allele frequencies compared to LDR.ConclusionsThe findings suggest that while ACTN3 R577X polymorphism is a genetic polymorphism that may distinguish between SDR and LDR, it cannot differentiate significantly between SDS and LDS.Trial RegistrationClinicalTrials.gov: NCT01319032Key PointsACTN3 R577X polymorphism is largely associated with running events specialization, with high prevalence of RR genotype and R allele frequency among short-distance runners compare to long-distance runners.Unlike in running, ACTN3 R577X polymorphism is not associated with swimming specialization.The inability of the ACTN3 R577X polymorphism to distinguish between swimmers specializing in different events, presumably since other factors such as body physique, technique, tactics, etc., are more likely to determine such a distinction.

ACE and ACTN3 Genes Polymorphisms and Endurance Performance

ACE I/D and ACTN3 R577X polymorphisms are the most extensively studied genes in recent years in association with human physical performance. VO2max is recognized as one of the major quantitative traits in sports physiology and the most common method to demonstrate cardiorespiratory endurance. The heritability for the VO2max in several studies has been observed up to 51%. PURPOSE: (1) To assess ACE gene ACTN3 genotype frequencies in young male skiers compared to the control group and (2) to analyze the relationships between VO2peak and ACE I/D and ACTN3 R577X polymorphisms in young male skiers. METHODS: Male skiers (n=56; 14 to 21 yrs), 52% of them are current or former junior national team members of Estonia. A standardized exercise test on a treadmill with determination VO2peak was performed. Anthropometric measurements and training characteristics were obtained. The male control group (n=145, 20 to 37 yrs) consisted of healthy sedentary subjects without previous athletic status. Venous blood samples for DNA extraction were collected. Genotyping of rs4343 (ACE, C_11942562_20) and rs1815739 (ACTN3, C_590093_1) was carried out by using the TaqMan SNP 5’ allelic discrimination assay. For statistical analysis, descriptive analysis, χ2-test was used. RESULTS: Frequency of ACE ID and ACTN3 RR genotypes in male skiers was statistically higher (p<0.05) and frequency of RX genotype of ACTN3 was lower (p<0.05) compared with controls. There were no significant differences in distribution of ACE I/D and ACTN3 R577X polymorphisms between the groups with different competing levels. We did not observe significant differences in mean VO2peak between ACE I/D, as well between ACTN3 R577X genotypes in male skiers. CONCLUSIONS: Our study results revealed a statistically higher prevalence of ACE ID and ACTN3 RR genotypes in young male skiers (64% and 40%, respectively) compared with male controls (47% and 18%, respectively). Mean VO2peak did not show significant differences between ACE I/D as well between ACTN3 R577X genotypes in male young skiers.

The ACTN3 Gene and Differences between Playing Positions in Bone Mineral Content, Fat Mass and Lean Tissue Mass in the Arms, Legs and Trunk Of Rugby Union Football Players

This article was published open access in Journal of Exercise, Sports & Orthopedics on 03 April 2015, available at http://dx.doi.org/10.15226/2374-6904/

ACTN3 R577X polymorphism is not associated with team sport athletic status in Italians.

BackgroundThe ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes.MethodsWe compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy. Genomic DNA was collected using a buccal swab. Extraction was performed according to the manufacturer’s directions provided with a commercially available kit (Qiagen S.r.l., Milan, Italy).ResultsTeam sport athletes showed a lower frequency of the 577RR genotype compared to the 577XX genotype than sprint/power athletes (p = 0.044). However, the ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.ConclusionsOur results agree with a recent large-scale study involving athletes from Spain, Poland, and Russia. The ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.

The association between the ACTN3 R577X polymorphism and noncontact acute ankle sprains

Ankle sprains are one of the most severe musculoskeletal soft tissue injuries during physical activity. Although many risk factors have been offered, it is unclear why some individuals develop noncontact ankle sprains when participating in comparable levels of physical exertion under identical environmental conditions and others do not. The ACTN3 gene that encodes the α-actinin-3 protein, which is, only expressed in the Z line of fast glycolytic muscle fibres was found to associate with power/strength performance. The aim of this study was therefore to investigate whether the ACTN3 gene polymorphism is associated with noncontact acute ankle sprains. One hundred and forty-two participants with clinically diagnosed noncontact acute ankle sprains as well as 280 physically active controls participants without any history of ankle sprains were included in this case–control genetic association study. The RR genotype (odds ratio (OR) = 0.56; 95% confidence interval (CI), 0.32–0.65, P = 0.011) and R allele (OR = 0.64; 95% CI, 0.37–0.68, P = 0.002) of the ACTN3 were significantly low-represented in the acute ankle sprains group compared with the control group. The ACTN3 R577X is associated with acute ankle sprains in Chinese participants in this study. This is the first study to suggest that an individual with a RR genotype is at a decreased risk of acute ankle sprains.

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution.

Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the ACTN3 gene. α-Actinin-3 deficiency is detrimental to sprint performance in elite athletes and beneficial to endurance activities. In the human genome, it is very difficult to find single-gene loss-of-function variants that bear signatures of positive selection, yet intriguingly, the ACTN3 null variant has undergone strong positive selection during recent evolution, appearing to provide a survival advantage where food resources are scarce and climate is cold. We have previously demonstrated that α-actinin-3 deficiency in the Actn3 KO mouse results in a shift in fast-twitch fibres towards oxidative metabolism, which would be more “energy efficient” in famine, and beneficial to endurance performance. Prolonged exposure to cold can also induce changes in skeletal muscle similar to those observed with endurance training, and changes in Ca2+ handling by the sarcoplasmic reticulum (SR) are a key factor underlying these adaptations. On this basis, we explored the effects of α-actinin-3 deficiency on Ca2+ kinetics in single flexor digitorum brevis muscle fibres from Actn3 KO mice, using the Ca2+-sensitive dye fura-2. Compared to wild-type, fibres of Actn3 KO mice showed: (i) an increased rate of decay of the twitch transient; (ii) a fourfold increase in the rate of SR Ca2+ leak; (iii) a threefold increase in the rate of SR Ca2+ pumping; and (iv) enhanced maintenance of tetanic Ca2+ during fatigue. The SR Ca2+ pump, SERCA1, and the Ca2+-binding proteins, calsequestrin and sarcalumenin, showed markedly increased expression in muscles of KO mice. Together, these changes in Ca2+ handling in the absence of α-actinin-3 are consistent with cold acclimatisation and thermogenesis, and offer an additional explanation for the positive selection of the ACTN3 577X null allele in populations living in cold environments during recent evolution.

Association of Angiotensin Converting Enzyme I/D and α-actinin-3 R577X Genotypes with Growth Factors and Physical Fitness in Korean Children.

This study analyzed the differences in aerobic and anaerobic exercise ability and growth-related indicators, depending on the polymorphism of the ACE and the ACTN3 genes, to understand the genetic influence of exercise ability in the growth process of children. The subjects of the study consisted of elementary school students (n=856, age 10.32±0.07 yr). The anthropometric parameters, physical fitness and growth factors were compared among groups of the ACE I/D or the ACTN3 R577X polymorphisms. There were no significant differences between the anthropometric parameters, physical fitness and growth factors for the ACE gene ID or the ACTN3 gene R577X polymorphism. However, the DD type of ACE gene was highest in the side step test (p<0.05), and the DD type was significantly higher than the II+ID type (p<0.05) in the early bone age. The combined group of the ACE gene II+ID and the ACTN3 gene XX type significantly showed lower early bone age (p< 0.05). This study did not find any individual or compounding effects of the polymorphism in the ACE I/D or the ACTN3 R577X polymorphisms on the anthropometric parameters, physical fitness and growth factors of Korean children. However, the exercise experience and the DD type of the ACE gene may affect the early maturity of the bones.

The ACTN3 Gene is a Potential Biomarker for the Risk of Non-Contact Sports Injury in Female Athletes

Sports injuries can become serious impairments for all athletes. Most notably, female athletes are at higher risk than men for sports injury, for example, anterior cruciate ligament (ACL) disorder. However, there is currently no genetic marker to determine if a female athlete harbors a predisposition for muscle trauma. Hence, we performed single nucleotide polymorphism genotyping of the α-actinin-3 (ACTN3), angiotensin-converting enzyme (ACE), and uncoupling proteins (UCP1, UCP2, and UCP3) in 99 young female athletes who had been injured during a sports activity, and we compared the occurrence of muscle traumas with the genotypes using the chi-square test. For the ACTN3 577R allele, the subjects who had non-contact muscle injury had a marked increase in frequency (p-value=0.0015; odds ratio=2.52). The significant increase in non-contact muscle injury related to ACTN3 577R alleles suggests that ACTN3 is likely to be involved in muscle strain and that non-contact muscle injury might occur due to the presence of this allele. It is crucially important for young female athletes to understand their risk for injury, as they might be able to modify their training program to avoid injury, depending on their specific genetic markers.

Bone Health, ACE Gene I/D and ACTN3 Gene R577X Polymorphisms in Spanish And Different Asian Populations

Bone Health, ACE Gene I/D and ACTN3 Gene R577X Polymorphisms in Spanish And Different Asian Populations