ACTN3 R577X Research Articles

Influence of genetic polymorphism on sports talent performance versus non-athletes: a systematic review and meta-analysis

BackgroundTalented athletes exhibit remarkable skills and performance in their respective sports, setting them apart from their peers. It has been observed that genetic polymorphisms can influence variations in sports performance, leading to numerous studies aimed at validating genetic markers for identifying sports talents. This study aims to evaluate the potential contribution of genetic factors associated with athletic performance predisposition in identifying sports talents.MethodsA systematic review was conducted following the PRISMA framework, utilizing the PICO methodology to develop the research question. The search was limited to case-control studies published between 2003 and June 2024, and databases such as Medline, LILACS, WPRIM, IBECS, CUMED, VETINDEX, Web of Science, Science Direct, Scopus and Scielo were utilized. The STREGA tool was employed to assess the quality of the selected studies.ResultsA total of 1,132 articles were initially identified, of which 119 studies were included in the review. Within these studies, 50 genes and 94 polymorphisms were identified, showing associations with sports talent characteristics such as endurance, strength, power, and speed. The most frequently mentioned genes were ACTN3 (27.0%) and ACE (11.3%).ConclusionThe ACE I/D and ACTN3 R577X polymorphisms are frequently discussed in the literature. Although athletic performance may be influenced by different genetic polymorphisms, limitations exist in associating them with athletic performance across certain genotypes and phenotypes. Future research is suggested to investigate the influence of polymorphisms in elite athletes from diverse backgrounds and sports disciplines.

Relative Age Effect and ACTN3 R577X and ACE I/D Polymorphisms in Brazilian Football Players: An Association Genetic Study

ABSTRACT The Relative Age Effect (RAE) suggests older athletes within an annual cohort have advantages over their younger peers. We hypothesized that younger athletes could overcome these disadvantages through favorable α-actinin-3 (ACTN3) and angiotensin converting enzyme (ACE) polymorphisms. This study aimed to: 1) examine RAE prevalence among Brazilian football players; 2) investigate the distribution of the ACTN3 and ACE polymorphisms; and 3) explore the association between polymorphisms and RAE across competitive levels and positions. The sample included 627 male players from first-division Brazilian teams in four age categories: U15 (n = 172), U17 (n = 166), U20 (n = 161), and Professionals (n = 128). A control group was established using data from the general Brazilian population documented in previous studies Results showed RAE presence across all competitive levels and positions. Players with the ACTN3 R allele, especially the RR genotype, had the strongest associations with football players, particularly among defenders. On the other hand, the distribution of ACE polymorphism was not significantly different between controls and players, except in the U17 category, where the I/I genotype was more common. Relatively older players had higher total genotype scores than younger counterparts in the overall sample and defender subgroups. In conclusion, RAE is prevalent among Brazilian football players, with older athletes benefiting from favorable ACTN3 and ACE polymorphisms, contrary to our initial hypothesis.

Effect of the ACTN3 R577X Polymorphism on Serum Creatine Kinase and Interleukin-6 Levels after Maximal Eccentric Exercise.

This study explored the interaction among ACTN3 R577X polymorphism, muscle damage, and post-exercise inflammatory response by assessing changes over time in serum creatine kinase and interleukin-6 levels. Ninety-five active Japanese participants (50 men and 45 women: 22.2 ± 2.3 years) who did not perform daily upper limb strength exercises were enrolled. Participants executed five sets of six maximal eccentric elbow flexion exercises. The exercise duration was 9 min, including rest between sets (90 s). Maximum voluntary isometric contraction, range of motion, muscle soreness, and serum creatine kinase and interleukin-6 levels were assessed pre and post and 1, 2, 3, and 5 d after exercise. Genotype groups were classified as RR + RX and XX based on the absence of ACTN3 expression. A significant time and group interaction (p = 0.045) on creatine kinase levels was observed between the groups, indicating that the absence of ACTN3 significantly affects creatine kinase changes. Conversely, no significant interaction on change in interleukin-6, maximum voluntary isometric contraction, range of motion, and muscle soreness was observed between groups. The results highlight an interaction on creatine kinase activity post-exercise by ACTN3 R577X polymorphism, with elevated activity in the XX genotype.

The ACTN3 p.Arg577Ter Genetic Variants Biomarker of the Fitness Performance, in Oaxaca Amerindian Population

Backgrond. ACTN3 is primarily expressed in fast skeletal muscle fibres. A common nonsense polymorphism in this gene is ACTN3 R577X (rs1815739:C>T) results in replacement of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle protein α-actinin-3, which causes an absolute deficiency of α-actinin-3 protein and alterations in muscle metabolism. A common null polymorphism in the ACTN3 gene The ACTN3 p.Arg577Ter allele (p.R577* or R577X) has undergone positive selection, with an increase in the X allele frequency as modern humans migrated out of Africa into the colder, less species-rich Eurasian climates Aim. Analized the frequency of allele or genotypes from ACTN3 p.Arg577Ter genetic variants biomarker of the fitness performance, in Oaxaca Amerindian population. Methods. From people of different ethnic groups the State of Oaxaca, DNA was extracted from peripheral blood to extract DNA using the geneKatcher kit (invitrogene), to amplify the polymorphism p.Arg577Ter was realized by qRT_PCR, using tqman probes by determined by allelic discrimination. Results. The more frequency allele is wild type R in all populations, more tan 50%. The Genotype more prevalent is heterocygote RX. In afromexican population Genotype XX o ter-X/ter-X is a allelic variant. Distribution allelic and genotype is verry heterogenus in the populations. In conclusión the ACTN3 R577X gene variant can be used as a clinical marker for the selection of sports talents in the state of Oaxaca, considering that it has already been validated at the population level, with the R allele being more frequent in the state, which is the one associated with a greater selective advantage in sports that require muscular strength and greater physical performance.

Influence of ACTN3 R577X Polymorphism on Blood Creatine Kinase Levels Relative to Number of Sprints in Brazilian Professional Soccer Players.

This study sought to assess how post-game creatine kinase (CK) levels correlate with the number of sprints and the impact of the ACTN3 polymorphism on this response. This research constituted a descriptive/observational, retrospective cross-sectional study. DNA was extracted from blood samples for ACTN3 polymorphism genotyping. CK was measured 48 h after official matches, and the number of sprints (>19 km/h) was tracked using Global Positioning System (GPS) technology. The main cohort included 23 professional soccer players from the top tier of the Brazilian Championship. We analyzed 115 GPS + CK data sets. The replication cohort comprised 18 professional soccer players from the First Division of the Championship, had the same methodology applied, and featured a total of 90 GPS (sprints > 25.2 km/h) + CK data sets. For the main cohort, a significant positive correlation was seen between the number of sprints and the CK levels (p = 0.009). Athletes with the ACTN3 RR genotype had higher CK levels as more sprints were performed during the match (p = 0.017). However, the relationship was not found for X allele carriers (p > 0.05). For the replication cohort, there was a near-significant correlation between CK levels and the number of sprints (p = 0.05), and RR individuals showed a significant association (p = 0.01), whereas X allele carriers did not (p = 0.06). A greater number of sprints during matches is linked to higher CK levels, primarily among players with the ACTN3 RR genotype, which is potentially due to an increased presence of type II muscle fibers. These findings were replicated for both cohorts of elite Brazilian soccer players, emphasizing the importance of genetic factors in injury prevention.

The roles of ACE I/D and ACTN3 R577X gene variants in heat acclimation

Roles of genes in heat acclimation (HA, repeated exercise-heat exposures) had not been explored. ACE I/D and ACTN3 R577X genetic polymorphisms are closely associated with outstanding exercise performances. This study investigated whether the two polymorphisms influenced the response to HA. Fifty young Han nationality male subjects were selected and conducted HA for 2 weeks. Exercise indicators (5-km run, push-up and 100-m run) were tested and rest aural thermometry (RTau) was measured before and after HA. ACE gene was grouped by I homozygote and D carrier, and ACTN3 gene was grouped by R homozygote and X carrier. Results showed that there were no differences between groups in age, body mass index, exercise indicators and RTau before HA. After HA, RTau of ACE I homozygote was lower than that of D carrier [F(1, 48) = 9.12, p = 0.004, η = 0.40]. Compared with RTau before HA, that of I homozygote decreased after HA (Δ = −0.26 °C, 95 % CI -0.34–0.18, p < 0.001), while that of D carrier did not change. There was a ACE gene × HA interaction in RTau [F(1, 48) = 14.26, p < 0.001, η = 0.48]. No effect of ACTN3 gene on RTau was observed. For exercise indicators, there were no differences between groups after HA, and no gene × HA interactions were observed. There may be a strong interaction of ACE gene and HA in the change of rest core temperature. I homozygote may have an advantage on improving heat tolerance.

Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension.

To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 T(-107)C) genes and chronic diseases (diabetes and hypertension) in women. Genomic DNA was extracted from saliva samples of 78 women between 18 and 59 years old used for genetic polymorphism screening. Biochemical data were collected from the medical records in Basic Health Units from Southern Brazil. Questionnaires about food consumption, physical activity level and socioeconomic status were applied. The XX genotype of ACTN3 was associated with low HDL levels and high triglycerides, total cholesterol and glucose levels. Additionally, high triglycerides and LDL levels were observed in carriers of the TT genotype of PON1, and lower total cholesterol levels were associated to the CC genotype. As expected, women with diabetes/hypertense had increased body weight, BMI (p = 0.02), waist circumference (p = 0.01), body fat percentage, blood pressure (p = 0.02), cholesterol, triglycerides (p = 0.02), and blood glucose (p = 0.01), when compared to the control group. Both ACTN3 R577X and PON1 T(-107)C polymorphisms are associated with nutritional status and blood glucose and lipid levels in women with diabetes/hypertense. These results contribute to genetic knowledge about predisposition to obesity-related diseases.

Genetic Polymorphisms and Their Impact on Body Composition and Performance of Brazilians in a 105 Km Mountain Ultramarathon.

Although the studied polymorphisms affect muscular proteins, aerobic adaptations, and recovery, their influence on the anthropometric variables and performance in ultramarathon runners is still poorly understood. This study aimed to determine the influence of ACTN3 R577X, ACE I/D, and CK MM A/G NcoI polymorphisms on the changes in the anthropometric variables and running time of 105 km mountain runners, in which 22 male Brazilian elite athletes (35.9 ± 6.5 years) were evaluated. Genotyping of the R577X (RR, RX, and XX), ACE I/D (DD, ID, and II), and CK MM A/G Ncol (AA, AG, and GG) polymorphisms was performed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique with DNA extracted from saliva. Body composition was determined via bioimpedance. Pre- and post-race weight differences were observed on athletes with the AA genotype (77.1 ± 5.9 kg; 74.6 ± 5.6 kg) compared with those with the AG genotype (74.5 ± 8.0 kg; 68 ± 5.1 kg) (p = 0.02; p = 0.02). The RR genotype showed a correlation between BMI and running time (R = 0.97; p = 0.004). The genotype II showed a correlation with % fat and fat mass concerning running time (R = 0.91; p = 0.003; R = 0.99; p < 0.0001). The AA genotype was associated with post-race weight and lean mass loss, while the RR genotype correlated with BMI, and the genotype II correlated with % body fat and fat mass in relation to times in the 105 km mountain ultramarathon.

Association of ACTN3 R577X Genotype with Physical Fitness in Japanese Male College Students

Association of ACTN3 R577X Genotype with Physical Fitness in Japanese Male College Students

Differences in ACTN3, ACE, and ADBR3 polymorphisms between Croatian National Team and non-national team elite soccer players

Introduction: This study investigated the differences in ACTN3, ACE and ADRB3 variants in top-level soccer players who entered the Croatian National Team and the ones who did not but played for two best Croatian teams. Material and Methods: The buccal swabs were collected from 56 soccer players playing for the Croatian National Team (N = 31) and/or for one of the two most prestigious Croatian soccer clubs (N = 25). Each participant’s genotype was determined by analyzing the single-nucleotide polymorphism. The ACTN3 gene (rs1815739) on chromosome 11 and the ACE (rs1799752) gene on chromosome 17 were determined. Results: No significant differences between the players who entered the national team and the ones who did not were found in ACTN3 R577X (p = 0.437) and ADRB3 (p = 0.202) polymorphism distribution, while the differences existed in ACE (p = 0.044). The significant differences were determined in the “Athletic index” between the national-team and non-national-team players (p = 0.023). Regarding the position, the “Athletic index” was significantly higher only in national team midfielders (2.50 ±1.08 points vs. 1.38 ±1.06; p = 0.034). Conclusion: It seems that the soccer players with a favorable genetic combination on the ACTN3 gene and ACE gene might have had a better chance to enter the National Team.

The Relationship among the Performance and the ACE I/D and ACTN3 R577X Polymorphisms and some Anthropometric Factors in Arm Wrestlers.

Sport genetics has become increasingly important in recent years. The concept of performance includes genetic and anthropometric factors. These factors have not been adequately examined when the current literature is examined. One of the aims of this study is to identify a possible interaction between the ACE ID and ACTN3 R577X polymorphisms and the sedentary, national arm wrestlers and amateur arm wrestlers, while another aim is to reveal some physical differences between the same persons. The research included 24 arm wrestlers who were members of the Turkish national team, 23 amateur arm wrestlers with club licenses, and 34 sedentary, all of the wrestlers participated voluntarily in the research. The genotype distribution of the ACE gene and ACTN gene and the statistical significance of the R, X, I, and D allele frequencies were compared by the Chi-Square test. The Anova one-way variance analysis was used to assess the difference among the palm circumference, wrist circumference, and forearm width among the groups, the significance was tested at p<.05 level. After the data was evaluated, significant differences were not found statistically in ACE nor ACTN3 polymorphisms in terms of the three groups (p>0.05). In addition, statistically significant differences were found in the palm, wrist, and forearm circumferences of the arm wrestlers who were the members of the Turkish national team compared especially to the sedentary (p<0.05). From the conducted research it was concluded that the success of the athlete in arm wrestling could not be directly explained by the ACE and ACTN3 genotypic characteristics. Another result revealed by this study was that the success of the athlete in arm wrestling was more related to palm, wrist, and forearm circumferences.

Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses.

The α-actinin-3 (ACTN3) gene rs1815739 (C/T, R577X) polymorphism is a variant frequently associated with athletic performance among different populations. However, there is limited research on the impact of this variant on athlete status and physical performance in basketball players. Therefore, the aim of this study was twofold: (1) to determine the association of ACTN3 rs1815739 polymorphism with changes in physical performance in response to six weeks of training in elite basketball players using 30 m sprint and Yo-Yo Intermittent Recovery Test Level 2 (IR 2) tests, and (2) to compare ACTN3 genotype and allelic frequencies between elite basketball players and controls. The study included a total of 363 individuals, comprising 101 elite basketball players and 262 sedentary individuals. Genomic DNA was isolated from oral epithelial cells or leukocytes, and genotyping was performed by real-time PCR using KASP genotyping method or by microarray analysis. We found that the frequency of the ACTN3 rs1815739 XX genotype was significantly lower in basketball players compared to controls (10.9 vs. 21.4%, p = 0.023), suggesting that RR/RX genotypes were more favorable for playing basketball. Statistically significant (p = 0.045) changes were observed in Yo-Yo IRT 2 performance measurement tests in basketball players with the RR genotype only. In conclusion, our findings suggest that the carriage of the ACTN3 rs1815739 R allele may confer an advantage in basketball.

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis.

The R577X polymorphism in the α-actinin-3 gene (ACTN3) is associated with muscle strength and power; there is an association between ACTN3 R577X polymorphism and range of motion (ROM). We examined the effect of the ACTN3 R577X polymorphism on ROM through meta-analysis and systematic review. Relevant studies published before April 14, 2022 were identified from the PubMed database using the following keywords and Boolean operators: ("flexibility" or "Joint Range of Motion" or "Joint Flexibility" or "Range of motion") and ("ACTN3" or "alpha-actinin 3"). Studies that met the following criteria were included: (1) published in English, (2) included human subjects, (3) provided ROM measurements, and (4) analyzed the ACTN3 R577X genotype. A total of 2908 participants from seven studies were included in the meta-analysis. The additive genetic model was assessed using a meta-regression model, and dominant and recessive models were analyzed using a random effects model. The ROM in the XX+RX genotype was significantly higher than that in the RR genotype (recessive model: p<0.001), and it increased additively in the order XX>RX>RR (additive model: p=0.029). However, no significant association was observed in the dominant model. These findings further elucidate the association between flexibility and the ACTN3 R577X genotype.

Association between ACE and ACTN3 genes polymorphisms and athletic performance in elite and sub-elite Chinese youth male football players.

Previous studies have shown controversial relationships between ACE I/D and ACTN3 R577x polymorphisms and athletic performance. Therefore, the aim of this study was to assess athletic performance indicators of Chinese youth male football players with different ACE and ACTN3 gene profiles. This study recruited 73 elite (26 13-year-olds, 28 14-year-olds, and 19 15-year-olds) and 69 sub-elite (37 13-year-olds, 19 14-year-olds, and 13 15-year-olds) and 107 controls (63 13-year-olds, and 44 14-year olds aged 13-15 years, all participants were of Chinese Han origin. We measured height, body mass, thigh circumference, speed, explosive power, repeat sprints ability, and aerobic endurance in elite and sub-elite players. We used single nucleotide polymorphism technology to detect controls elite and sub-elite players' ACE and ACTN3 genotypes, Chi-squared (χ 2) tests were employed to test for Hardy-Weinberg equilibrium. χ 2 tests were also used to observe the association between the genotype distribution and allele frequencies between controls and elite and sub-elite players. The differences in parameters between the groups were analyzed using one-way analysis of variance and a Bonferroni's post-hoc test, with statistical significance set at p≤0.05. (1) The genotype distribution of the ACE I/D and ACTN3 R577x polymorphisms in controls, elite and sub-elite football players were consistent with Hardy-Weinberg equilibrium, except for the ACE genotype distribution of sub-elite players. (2) The RR and DD genotypes were significantly different between elite and sub-elite players (p = 0.024 and p = 0.02, respectively). (3) Elite players were more likely to have the RR genotype and less likely to have the DD genotype compared with sub-elite players. (4) Both elite and sub-elite RR players' Yo-yo intermittent recovery level 1 (YYIR1) running distance was significantly longer than that of RX players (p = 0.05 and p = 0.025, respectively). However, there was no significantly different in YYIR1 running distance between elite and sub-elite RR players. (5) Elite XX players' VO2 max was significantly higher than that of RX and sub-elite players. These results indicate that ACE I/D and ACTN3 R577x polymorphisms are not associated with muscle power in Chinese elite and sub-elite players. The XX genotype of ACTN3 is associated with the aerobic endurance of elite players.

Association between ACTN3 R577x and the physical performance of Chinese 13 to 15-year-old elite and sub-elite football players at different positions.

The purpose of this study was to investigate the prevalence of ACTN3 polymorphisms in Chinese elite and sub-elite football players aged 13-15years at different positions. Specifically we explored whether ACTN3 genotypes were linked with athletic performance of elite and sub-elite players at different positions. The RR genotype frequency of elite defenders (p = 0.018) and midfielders (p = 0.008) was significantly higher than that of sub-elite XX genotype in elite players. Furthermore, the R allele frequency of elite defenders (p = 0.003) and midfielders (p = 0.008) was significantly higher than that of sub-elite players. In all subjects, RR players performed faster and exhibited more explosive power than RX or XX players. RR, RX and XX elite players' 20m/30m sprint, 5 × 25-m repeated sprint ability (5 × 25m RSA), and standing long jump were stronger than sub-elite players, but there was no significant different in aerobic endurance between elite and sub-elite players at different positions. In conclusion, there were significant differences in ACTN3 genotypes and alleles between elite and sub-elite players at different positions, and the RR genotype was significantly associated with power-related athletic performance in Chinese youth football players.

Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes

CrossFit is known as a functional fitness training high-intensity exercise to improve physical performance. The most studied polymorphisms are the ACTN3 R577X gene, known for speed, power, and strength, and ACE I/D, related to endurance and strength. The present investigation analyzed the effects of training on ACTN3 and ACE gene expression in CrossFit athletes for 12 weeks. the studies included 18 athletes from the Rx category, where ACTN3 (RR, RX, XX) and ACE (II, ID, DD) characterization of genotypes and tests of maximum strength (NSCA), power (T-Force), and aerobic endurance (Course Navette) were performed. The technique used was the reverse transcription-quantitative PCR real-time polymerase chain reaction (RT-qPCR) for the relative expression analysis. the relative quantification (RQ) values for the ACTN3 gene increased their levels 2.3 times (p = 0.035), and for ACE, they increased 3.0 times (p = 0.049). there is an overexpression of the ACTN3 and ACE genes due to the effect of training for 12 weeks. Additionally, the correlation of the expression of the ACTN3 (p = 0.040) and ACE (p = 0.030) genes with power was verified.

Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League

IntroductionGenetic-association studies have shown that some polymorphisms are associated with different aspects of athletic performance, including very specific features, such as players’ position in team sports, like soccer, rugby, and Australian football. However, this type of association has not been investigated in Basketball yet. The present study analyzed the association of ACTN3 R577X, AGT M268T, ACE I/D and BDKRB2+9/−9 polymorphisms with the position of basketball players. MethodsOne hundred fifty-two male athletes from 11 teams of the first division of Brazilian Basketball League and 154 male Brazilian controls were genotyped. The analyses of the ACTN3 R577X and AGT M268T were performed by the allelic discrimination method, while ACE I/D and BDKRB2+9/−9 by conventional PCR followed by electrophorese in agarose gel. ResultsThe results showed a significant effect of height on all positions and an association between the genetic polymorphisms analyzed and basketball positions. In addition, a significantly higher frequency of ACTN3 577XX genotype was observed in Point Guards. Also, compared to Point Guard, ACTN3 RR and RX were more prevalent in the Shooting Guard and Small Forward group and RR genotype was also more prevalent in the Power Forward and Center group. ConclusionThe main finding of our study was the positive association of ACTN3 R577X polymorphism and basketball playing position, and a suggestion of genotypes related to strength/power performance with post players and genotypes related to endurance performance with point guard players.

The role of ACTN3 R/X and ACE I/D in the development of endurance in athletes

Annotation. Endurance – one of the most important sports components, which allows you to overcome the workload for a given time without significant losses in strength and speed. It is most manifested in such sports as swimming, skiing, marathon, cycling, gymnastics. Since the endurance development is mostly influenced not only by epigenomic factors, but also by the genotype of the athlete, so the purpose of this review article is to study the effects of ACTN3 and ACE genes on this physical component. In order to do so, we used basic databases to process information that is known to date on the effects of these genes and their variations. The search was conducted up to and including January 2022 in accordance with PRISMA recommendations. Genes under our study affects endurance in different ways, for example, ACTN3 R577X polymorphism increases the number of slow muscle fibers, and the presence of wild allele “I” of the ACE gene slows down the bradykinin decomposition which mitigates the workload impact on the cardiovascular system, thereby facilitating its adaptation, although there is evidence of an increased risk of injury. The purpose of the review results is to help each athlete in selection of training tactics, which could help him in sports achievements.

Genotype Distribution of the ACTN3 p.R577X Polymorphism in Elite Badminton Players: A Preliminary Study.

α-Actinin-3 is a protein with a structural role at the sarcomeric Z-line in skeletal muscle. As it is only present in fast-type muscle fibers, α-actinin-3 is considered a key mechanical component to produce high-intensity muscle contractions and to withstand external tension applied to the skeletal muscle. α-Actinin-3 is encoded by the gene ACTN3, which has a single-nucleotide polymorphism (p.R577X; rs1815739) that affects the expression of α-actinin-3 due to the presence of a stop codon. Individuals homozygous for the 577R allele (i.e., RR genotype) and RX heterozygotes express functional α-actinin-3, while those homozygous for the 577X (i.e., XX genotype) express a non-functional protein. There is ample evidence to support the associations between the ACTN3 genotype and athletic performance, with higher frequencies of the 577R allele in elite and professional sprint and power athletes than in control populations. This suggests a beneficial influence of possessing functional α-actinin-3 to become an elite athlete in power-based disciplines. However, no previous investigation has determined the frequency of the ACTN3 genotypes in elite badminton players, despite this sport being characterized by high-intensity actions of intermittent nature such as changes of direction, accelerations, jumps and smashes. The purpose of this study was to analyze ACTN3 R577X genotype frequencies in professional badminton players to establish whether this polymorphism is associated with elite athlete status. A total of 53 European Caucasian professional badminton players competing in the 2018 European Badminton Championships volunteered to participate in the study. Thirty-one were men (26.2 ± 4.4 years) and twenty-two were women (23.4 ± 4.5 years). Chi-squared tests were used to analyze the differences in the distribution of ACTN3 genotypes (RR, RX and XX) between categories and sexes. The ACTN3 RR genotype was the most frequent in the sample of professional badminton players (RR = 49.1%, RX = 22.6% and XX = 28.3%). None of the badminton players ranked in the world's top ten possessed the XX genotype (RX = 60%, RR = 40%). The distribution of the ACTN3 genotypes was similar between male and female professional badminton players (men: RR = 45.2%, RX = 25.8% and XX = 29.0%; women: RR = 54.5%, RX = 18.2% and XX = 27.3%; χ2 = 0.58; p = 0.750). The distribution of the ACTN3 genotypes in badminton players was different from the 1000 genome database for the European population (χ2 = 15.5; p &lt; 0.001), with an overrepresentation of the RR genotype (p &lt; 0.05) and an underrepresentation of the RX genotype (p &lt; 0.01). In conclusion, the expression of functional α-actinin-3, associated with RR and RX genotypes in the ACTN3 gene may confer an advantage for reaching the status of elite athlete in badminton, and especially the world's top-ten ranking. Large-scale studies with different ethnic backgrounds are needed to confirm the association of the R allele of ACTN3 with badminton performance.

Influence of Alpha-Actinin-3 R577X Polymorphism on Muscle Damage and the Inflammatory Response after an Acute Strength Training Session.

The objective of this study was to verify the influence of the ACTN3 R577X polymorphism on muscle damage and the inflammatory response after an acute strength training (ST) session. Twenty-seven healthy male individuals (age: 25 ± 4.3 years) participated in the study, including 18 RR/RX and 9 XX individuals. The participants were divided into two groups (RR/RX and XX groups) and subjected to an acute ST session, which consisted of a series of leg press, leg extension machine, and seated leg curl machine. The volunteers were instructed to perform the greatest volume of work until concentric muscle failure. Each volunteer's performance was analyzed as the load and total volume of training, and the blood concentrations of C-C motif chemokine ligand 2 (CCL2), interleukin-8 (IL-8), creatine kinase (CK), lactate dehydrogenase (LDH), myoglobin, testosterone, and cortisol were measured before the ST session and 30 min and 24 h postsession. The ACTN3 R577X polymorphism effect was observed, with increased concentrations of CCL2 (p < 0.01), IL-8 (p < 0.01), and LDH (p < 0.001) in XX individuals. There was an increase in the concentration of CK in the RR/RX group compared to XX at 24 h after training (p > 0.01). The testosterone/cortisol ratio increased more markedly in the XX group (p < 0.001). Regarding performance, the RR/RX group presented higher load and total volume values in the training exercises when compared to the XX group (p < 0.05). However, the XX group presented higher values of delayed onset muscle soreness (DOMS) than the RR/RX group (p < 0.05). The influence of ACTN3 R577X polymorphism on muscle damage and the inflammatory response was observed after an acute ST session, indicating that the RR/RX genotype shows more muscle damage and a catabolic profile due to a better performance in this activity, while the XX genotype shows more DOMS.