ACTN3 Gene Polymorphism Research Articles

Differences in ACTN3 Genotype in Professional Ssireum Players Between Weight Classes and Elite/Non-Elite Status

PURPOSE This study aimed to identify ACTN3 gene polymorphisms amongprofessional ssireum players by weight class and between elite and non-elite players,and to select genotype that matches the characteristics of the sport. METHODS The subjects of this study were 148 male athletes currently working as professionalssireum players. Chi-square test cross-tabulation analysis was conducted to examinethe differences in ACTN3 genotypes between weight classes and between elite andnon-elite players. RESULTS There were no significant differences in allele or genotypebetween ssireum players, but there were significant differences in R-allele and XXgenotype. CONCLUSIONS Players with the R-allele type of the ACTN3 gene weremore often classified as elite. Using this marker as a basis for organizing a playerselection and training programs would be more effective in training those that matchthe characteristics of elite players of the game.

Effect of the ACTN-3 gene polymorphism on functional fitness and executive function of elderly.

During aging, physical integrity and cognitive abilities, especially executive function, become compromised, directly influencing the quality of life of the elderly. One good strategy to ensure healthy aging is the practice of physical exercise. Activities to improve aerobic capacity and muscle strength are extremely important in old age. However, some genetic factors can interfere both positively and negatively with these gains. In this context, the polymorphism rs1815739 (R577X) of the α-actinin 3 gene (ACTN-3) is commonly studied and related to muscle phenotype. Thus, the present study aimed to investigate the effect of the ACTN-3 gene polymorphism on the functional fitness (measured by the Senior Fit test) and cognitive capacity (evaluated by the Stroop test) of the elderly (n = 347), both men and women. We did not find the effect of genotype on functional fitness, but we did observed a positive effect of the ACTN-3 gene polymorphism on executive function. The presence of the X allele of the ACTN3 gene in the elderly was related to a better performance in the Stroop test (shorter answer time). Our results showed that ACTN-3 gene polymorphism affects the executive function of the elderly but not their functional fitness.

Influence of ACE and ACTN3 genes polymorphisms on cardiovascular adaptation in female football players

The aim of study was to investigate distribution of ACE and ACTN3 gene polymorphisms in young female footballers and to test association of common gene polymorphisms with body composition, arterial blood pressure and ECG screening variables. A group of 45 white, healthy, adolescent female elite footballers (FG) and 60 sedentary female controls (CG) enrolled in this study. HRM method has been developed to differentiate between variant alleles of ACE and ACTN3 genes. No significant difference was found in the ACE and ACTN3 genotypes or allele frequencies distribution between FG and CG (p>0.05). Also, neither insertion in the ACE gene, nor nonsense mutation in the ACTN3 gene had a significant effect on resting BP and ECG parameters. Cardiovascular adaptation to intensive physical activity in FG is manifested as lowered resting systolic and diastolic blood pressure (lower 18 and 11 percentiles, respectively). Footballers with ACE DD and ACTN3 XX polymorphisms had higher values of Sokolow-Lyon voltage for LV hypertrophy, but without statistically significance (p=0.61 and 0.2, respectively). Interpretation of the effect of specific genes with presumed large effect on sport performance, should be cautious, especially in team sports with a mixed type of physical activity, such as football.

The Impact of ACTN3 Gene Polymorphisms on Susceptibility to Exercise-Induced Muscle Damage and Changes in Running Economy Following Downhill Running.

This study aimed to investigate if ACTN3 gene polymorphism impacts the susceptibility to exercise-induced muscle damage (EIMD) and changes in running economy (RE) following downhill running. Thirty-five healthy men were allocated to the two groups based on their ACTN3 gene variants: RR and X allele carriers. Neuromuscular function [knee extensor isometric peak torque (IPT), rate of torque development (RTD), and countermovement, and squat jump height], indirect markers of EIMD [muscle soreness, mid-thigh circumference, knee joint range of motion, and serum creatine kinase (CK) activity], and RE (oxygen uptake, minute ventilation, blood lactate concentration, and perceived exertion) for 5-min of running at a speed equivalent to 80% of individual maximal oxygen uptake speed were assessed before, immediately after, and 1–4 days after a 30-min downhill run (−15%). Neuromuscular function was compromised (P < 0.05) following downhill running with no differences between the groups, except for IPT, which was more affected in the RR individuals compared with the X allele carriers immediately (−24.9 ± 6.9% vs. −16.3 ± 6.5%, respectively) and 4 days (−16.6 ± 14.9% vs. −4.2 ± 9.5%, respectively) post-downhill running. EIMD manifested similarly for both the groups except for serum CK activity, which was greater for RR (398 ± 120 and 452 ± 126 U L–1 at 2 and 4 days following downhill running, respectively) compared with the X allele carriers (273 ± 121 and 352 ± 114 U L–1 at the same time points). RE was compromised following downhill running (16.7 ± 8.3% and 11 ± 7.5% increases in oxygen uptake immediately following downhill running for the RR and X allele carriers, respectively) with no difference between the groups. We conclude that although RR individuals appear to be more susceptible to EIMD following downhill running, this does not extend to the changes in RE.

ACE and ACTN3 Gene Polymorphisms and Genetic Traits of Rowing Athletes in the Northern Han Chinese Population.

This investigation aimed to explore the effects of ACE I/D and ACTN3 R577X gene polymorphisms on specific quantitative variables, including height, weight, arm span, biacromial breadth, forced vital capacity (FVC), FVC/weight, maximal oxygen uptake (VO2max), prone bench pull (PBP), loaded barbell squat (LBS), and 3,000-m run, in 243 Chinese rowing athletes. The ACE and ACTN3 genotypes were obtained for each athlete via polymerase chain reaction on saliva samples, and the genotype frequency was analyzed. The ACE genotype frequency of rowing athletes were 45.8% II, 42.2% ID, and 12% DD for males and 33.6% II, 48% ID, and 18.4% DD for females. There were significant differences in weight in male athletes, PBP in female athletes, and ACE genotypes. A linear regression analysis using PBP and LBS as different dependent variables and ACE genotypes as independent variables based on the ACE I allele additive genetic effect showed a statistical significance in female athletes (p < 0.05). There was a significant difference in the distribution of the three genotypes among male athletes (36.7% XX, 38.5% RX, and 24.8% RR, χ2 = 5.191, df = 2, p = 0.022 < 0.05). There were no significant differences in the distribution of the three genotypes among female athletes (23.8% XX, 47.8% RX, 28.4% RR, χ 2 = 0.24, df = 2, p = 0.619 > 0.05). The ACTN3 gene polymorphism of male rowing athletes was dominated by the ACTN3 577X allele. There were significant differences in the χ 2 test between groups of male athletes. The ACTN3 R577 allele was dominant in female athletes. There were significant differences between PBP and FVC/body weight and ACTN3 genotypes in male athletes by ANOVA, respectively (p < 0.05). A linear regression analysis using FVC and FVC/body weight as dependent variables and ACTN3 genotypes as independent variables based on the ACTN3 577X allele recessive genetic effect showed statistical significance in male athletes (p < 0.05). These results suggested that ACE and ACTN3 gene polymorphisms may be used as biomarkers of genetic traits in Chinese rowing athletes.

Effect of ACTN3 gene polymorphism on the pathogenic phenotype of related diseases and its treatment prospect

Effect of ACTN3 gene polymorphism on the pathogenic phenotype of related diseases and its treatment prospect

Frequency analysis of the ACTN3 gene polymorphism in children with isolated or combined orthodontic pathology with allergic rhinitis

Purpose. Determination and frequency analysis of the ACTN3 gene (actinin, alpha 3) rs1815739 polymorphism, responsible for metabolism, strength and speed of muscle movement, including the maxillofacial apparatus, in children with distal occlusion and allergic rhinitis.Materials and Methods. To study the ACTN3 gene (rs1815739) polymorphism, the molecular and genetic study was conducted in 100 children aged 6 to 18 years. The 26 patients with distal bite and allergic rhinitis were included in the first study group; the second group consisted of 23 children with a distal bite; the third group included 30 children with allergic rhinitis and the fourth group was made up of 21 almost healthy children. All children did not have a statistically significant difference in sex and age. The molecular and genetic study was carried out in the Department of Molecular and Genetic Research of theTrainingMedicalLaboratoryCenter in the Department of Microbiology of theZaporizhiaStateMedicalUniversity, Zaporizhia. The obtained study results were analyzed using non-parametric methods of statistical analysis of the licensed software package «Statistica 6.1. RU». The population genetic analysis with the distribution of alleles and genotypes of the ACTN3 gene frequency is presented in accordance with the Hardy-Weinberg principle.Results. Studying the distribution of allelic genes and genotypes of the ACN3 polymorphism (actinin, alpha 3) rs1815739 showed that among all examined children, the alpha actinin-3 protein was synthesized sufficiently in 36% of children with the homozygous C / C genotype, while in case of European population it was equal to 31%; and insufficiently - in 11% of those examined with the homozygous T / T genotype (in the European population - in 17.9%); in a smaller amount - in 53% of children with the heterozygous C / T genotype, which frequency corresponded to the European population (51.1%). The genotypes had the following distribution in the study groups: in children with a combination of allergic and orthodontic pathology; with distal bite; with allergic rhinitis and in healthy children, respectively: homozygous C / C genotype - 38.46%; 56.52%; 33.33%; 14.3%; homozygous T / T genotype - 11.5%; 8.7%; 6.67%; 19.05%; heterozygous C / T genotype – 50%; 34.78%; 60%; 66.67%. In children with distal bite, the homozygous C / C genotype (rs1815739) of the gene coding alpha-actinin-3 protein synthesis was associated with the odds ratio OR = 7.80, CI [1.79 - 34.07], while in children with heterozygous genotype C / T the odds of being healthy was OR = 3.75, СІ [1.08 – 13.07].Conclusions. The dominant observation of the C / C genotype (rs1815739) of the gene coding alpha-actinin-3 protein synthesis in children with distal bite may indicate the role of muscle strength and their pressure on the dentition in the process of formation of children tooth-maxillary anomalies, which shall be taken into account when selecting individual treatment-and-preventive myogymnastics and apparatus treatment for such patients.

Frequency analysis of the ACTN3 gene polymorphism in children with isolated or combined orthodontic pathology with allergic rhinitis

Frequency analysis of the ACTN3 gene polymorphism in children with isolated or combined orthodontic pathology with allergic rhinitis

The Influence of ACTN3 Gene Polymorphism on VO2max and Sprint Speed Based on Sprint Interval Training Intervention

It is known that one of the physical fitness factors is a non-modifiable genetic factor, one of which is the ACTN3 gene. The influence of this gene polymorphism on physical fitness response, both aerobic and anaerobic, to intervention is still limited. Sprint Interval Training (SIT) as one intervention factor enhances physical fitness, both aerobic and anaerobic. The research aims at observing whether ACTN3 gene polymorphism influences VO2max and Sprint Speed with SIT intervention. VO2max is a parameter of aerobic physical fitness, while sprint speed is a parameter of anaerobic physical fitness. Twenty-eight male students of 18-25 years old were taken as the research’s subjects from the Student Activity Unit of Sports of Jenderal Soedirman University using the consecutive sampling method. The subjects were divided by genotypes identified using a PCR-RFLP method into three groups, namely RR, RX, and XX. All samples undertake three sessions of SIT per week for five weeks with work to rest ratio (W:R) = (1:8). Before and after undertaking SIT regimen, the subjects were examined for VO2max using a Multi-Stage Fitness Test method and for speed using a Sprint 30 m method. The analysis was conducted using a One-Way ANOVA test at a significance level of 0.05. There was a significant difference at mean value VO2MAX (p=0.033) and speed (p=0.048) with each genotype group, and the highest change takes place with the genotype group RR. Study concluded that ACTN3 gene polymorphism influences a change in VO2MAX and speed after Sprint Interval Training intervention.

Повреждение мышц, вызванное физическими упражнениями: роль полиморфизма гена ACTN3

Even the most experienced athletes are not safe from various types of muscle damage (cramp, contracture, sprain, tear and tear of the muscle). Nowadays, certain gene variations or polymorphisms associated with muscle damage caused by exercise are known. This review focuses on the polymorphism of the ACTN3 gene (Alpha-actinin-3 R577X, rs1815739), which plays an important role in the initial phase of muscle damage caused by exercises. Knowledge about how someone can respond to a specific type of exercises can help coaches individualize their athletes’ training exercises and thereby reduce the risk of injuries associated with overexertion. The purpose of this review is to provide a critical analysis of the literature on ACTN3 gene polymorphism associated with exercise-induced muscle damage both in young and old people, and the review highlights the potential mechanisms underlying these associations, which will provide a better understanding of exercise-induced muscle damage.

The relationship between ACTN3 gene polymorphism with VO2 max and flexibility

Maximum oxygen consumption (VO2 max) and flexibility are essential biomotoric components for football athletes. The influence of genetics on the biomotoric element has not been widely studied. The ACTN3 gene probably affects VO2 max and flexibility. This study aims to determine the relationship between ACTN3 gene polymorphism to VO2 max and flexibility in students of UKM Olahraga Jenderal Soedirman University. This was an observational analytic study with a cross-sectional approach. Seventy-eight subjects chosen by consecutive sampling underwent the protocol study. Venous blood samples were taken for ACTN3 gene polymorphism examination. The respondents were also tested for VO2 max with the multi-stage fitness test and flexibility tests using sit and reach method. Data were analyzed by a one way ANOVA test with a significance level of p=0.05.The results of this study showed that there was no significant relationship between ACTN3 gene polymorphism with VO2 max (p=0.763) and flexibility (p=0.912). The highest mean VO2 max was in the RR genotype (35.25±7.15 ml/kg.min), while the highest mean of flexibility was in the XX genotype (37.02±7.89 cm). There was no relationship between ACTN3 gene polymorphism with VO2 max and flexibility, in students of Jenderal Soedirman University.

Association of ACTN3 Polymorphism with Body Somatotype and Cardiorespiratory Fitness in Young Healthy Adults.

ACTN3 encodes the protein α-actinin-3, which affects the muscle phenotype. In the present study, we examined the association of ACTN3 R577X polymorphism with body somatotype and cardiorespiratory fitness in young, healthy adults. The study group included 304 young adults, in whom cardiorespiratory fitness was evaluated and the maximum oxygen uptake was determined directly. The somatotype components were calculated according to the Heath-Carter method. Genotyping for the ACTN3 gene was performed using a polymerase chain reaction followed by high-resolution melting analysis. In the female group, a lower maximal heart rate (HRmax) was more strongly associated with the RR genotype (p = 0.0216) than with the RX and XX genotypes. In the male group, the ACTN3 RX genotype, as compared with other genotypes, tended to be associated with a lower percentage of adipose tissue (p = 0.0683), as also reflected by the body mass index (p = 0.0816). ACTN3 gene polymorphism may affect cardiorespiratory fitness. Our analysis of ACTN3 gene polymorphism does not clearly illustrate the relationships among genotype, body composition, and somatotype in young, healthy adults.

ACE/ACTN3 GENETIC POLYMORPHISMS AND ATHLETIC PERFORMANCE OF FEMALE SOCCER PLAYERS`

ABSTRACT Objective: Previous studies have shown controversial relationships between ACE and ACTN3 gene polymorphisms and sports performance. Thus, the aim of our study was to assess anaerobic and aerobic performance indicators of young female soccer players with different ACE/ACTN3 gene profiles. Methods: Twenty-seven female soccer players aged 16-18 underwent acceleration, speed, strength, anaerobic power and aerobic endurance tests and had their ACE and ACTN3 polymorphisms determined. Results: Based on genetic analysis, they were divided into the following groups: ACE II (n=2), ACE ID (n=11), ACE DD (n=14), ACTN3 XX (n=5), ACTN3 RR (n=7) and ACTN3 RX (n=15). ACE DD and ACE ID groups differed significantly in terms of results achieved on the 5 m sprint test (1.15±0.05 s vs 1.10±0.05 s, P=0.42). ACTN3 RR and RX achieved better results than the ACTN3 XX group in seven continuous vertical jumps (26.57±1.59 cm vs 25.77±2.51 cm vs 22.86±1.16 cm, respectively; P=0.007 for RR vs XX and P=0.021 for RX vs XX). Conclusion: High prevalence of ACE DD and ACTN3 RX genotypes in our subjects may suggest that faster and more powerful young females tend to perform better in soccer. Nevertheless, the absence of differences in most of the physical test results indicates that different genotypes are compatible with high-level soccer performance, meaning that it is the phenotype-genotype interaction that makes a successful female soccer player. Level of Evidence I, Prognostic studies — Investigating the effect of a patient characteristic on disease outcome.

Changes in Body Composition and Physical Fitness According to ACTN-3 Gene Polymorphism in Male Air Force Cadets During 8 Weeks of G-tolerance Exercise Program

Changes in Body Composition and Physical Fitness According to ACTN-3 Gene Polymorphism in Male Air Force Cadets During 8 Weeks of G-tolerance Exercise Program

Analysis of Equine ACTN3 Gene Polymorphisms in Yili Horses

The sarcomeric protein α-actinin-3, which is encoded by the ACTN3 gene, interacts with multiple proteins involved in structure, muscle metabolism, and signaling. α-Actinin-3 deficiency caused by a knockout or mutation of the terminator sequence of the ACTN3 gene leads to a change in muscle phenotype from fast-twitch fibers to slow-twitch fibers, resulting in enhanced aerobic metabolic energy, decreased calcium sensitivity, and degraded sprint and power performance. In this study, the single-nucleotide polymorphisms (SNPs) in the equine ACTN3 gene in Yili horses (n = 38) were detected and sequenced. Comparison of the obtained equine ACTN3 sequences with those in GenBank identified 15 SNPs, with one located in the promoter, eight located in exons, and six located in introns. All eight exonic SNPs, except for the missense mutation g.9059T>G, were synonymous. The g.9059T>G mutation lead to an increase in the free energy of the thermodynamic ensemble of the equine ACTN3 mRNA from −1157.84 to −1157.35 kcal/mol and changed the secondary structure of α-actinin-3, which may affect its function. We hypothesized that g.9059T>G might affect athletic performance and may be a candidate SNP for racehorse breeding.

Differences in muscle strength, muscle soreness, and blood CK activity after eccentric exercise for ACTN3 gene polymorphism

[Purpose] The purpose of this study was to examine the change of muscle damage markers after maximal eccentric exercise and to verify the difference of recovery according to ACTN3 gene polymorphism. [Methods] Fifty healthy males participated in this study. Subjects performed 25 times/1 set (total 2 set) maximal eccentric contractions of the elbow flexor muscles on a modified preacher curl machine with a between-sets rest time of 5 min. Maximal isometric contraction (MIC) was measured 6 times (pre, post, after 24 h, 48 h, 72 h and 96 h). Muscle soreness (SOR) was measured 5 times (pre, after 24 h, 48 h, 72 h and 96 h). Blood samples were collected 5 times (pre, after 24 h, 48 h, 72 h and 96 h). ACTN3 gene polymorphisms were identified using polymerase chain reaction (PCR). Data were analyzed using a 2-way repeated measure ANOVA and post hoc Bonferroni test. [Results] Analysis of ACTN3 gene polymorphism revealed the following distribution: 22% RR (n=11), 50% RX (n=25), and 28% XX (n=14). Individuals were classified into the RR homozygote group (n=11) and the X-allele group (n=39). MIC showed a significant difference between groups and interaction (p&lt;.05). The groups differed significantly in MIC at 48 h, 72 h, and 96 h after exercise and the X-allele group decreased more than the RR homozygote group. The groups differed significantly in muscle soreness and interaction (p&lt;.05). SOR in the X-allele group was significantly higher than in the RR homozygote group at 24 h after exercise. Although blood CK activity was lower in the RR homozygote group than in the X-allele group, but there was no significant difference between the groups (p&gt;.05). [Conclusion] The RR homozygote group showed lower muscle strength reduction rate, muscle soreness and blood CK activity than the X-allele group. This indicates that RR individuals have a lower risk of exercise-induced muscle damage than those with an X-allele.

Interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency in combat sports athletes

[Purpose]The purpose of this study was to determine the interaction of ACTN3 gene polymorphism and muscle imbalance effects on kinematic efficiency changes in combat sports athletes.[Methods]Six types of combat sports athletes (Judo, Taekwondo, boxing, kendo, wrestling, and Korean Ssi-reum) participated in the study. ATCN3 gene polymorphism and muscle imbalance in lower extremity were evaluated followed by analysis of differences of moment in hip, knee, and ankle joint during V-cut jumping and stop. To examine the moment difference due to an interaction of ATCN3 polymorphism and muscle imbalance, all participants were divided into 4 groups (R+MB, R+MIB, X+MB, and X+MIB).[Results]There was no significant difference of hip, knee, and ankle joint moment in R allele and X allele during V-cut jumping and stop based on ACTN3 gene polymorphism. Otherwise, muscle imbalance of knee moment in X-axis and ground reaction force of knee in Z-axis showed a higher significance in muscle imbalance during V-cut jumping and stop compared to muscle balance (p<0.05). In addition, joint analysis showed that muscle imbalance in X allele group had significantly higher knee moment of V-cut ground reaction force in X-axis and higher ankle moment of jumping ground reaction force in X and Z-axis compared to muscle balance with R and/or X group (p <0.05).[Conclusion]This study confirmed that muscle imbalance in lower extremity of combat athletes might induce higher risk factors of sports injury incidence than genetic factor and training might reduce the ratio of sports injury risk incidence.

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.

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.

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.