ACTN3 Genotype Research Articles

281P Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: findings from an Argentine patient cohort

281P Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: findings from an Argentine patient cohort

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.

ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players.

The aim of this study was to investigate the association of the ACTN3 rs1815739 polymorphism with match running performance and injury incidence in top-level professional football players. A total of 315 top-level professional football players from the first division of Spanish football (i.e., LaLiga) participated in this prospective and descriptive study. The ACTN3 rs1815739 genotype was identified for each player using genomic DNA samples. During LaLiga 2021-2022, players' performance was obtained through a validated camera system in all official matches. Additionally, the incidence of non-contact injuries was obtained by each team's medical staff according to the International Olympic Committee (IOC) statement. From the study sample, 116 (36.8%) players had the RR genotype, 156 (49.5%) had the RX genotype, and 43 (13.7%) had the XX genotype. The anthropometric characteristics of the players were similar across genotypes. However, the total running distance (p = 0.046), the distance at 21.0-23.9 km/h (p = 0.042), and the number of sprints (p = 0.042) were associated with the ACTN3 genotype. In all these variables, XX players had lower match performance values than RR players. Additionally, total and match injury incidences were higher in XX players than in RR players (p = 0.026 and 0.009, respectively). The rate of muscle injuries was also higher in XX players (p = 0.016). LaLiga football players with the ACTN3 XX genotype had lower match running performance and a higher incidence of non-contact injuries over the season.

The relationships between ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms and athletic performance characteristics in professional soccer players

BackgroundCurrent research on athletic performance focuses on genetic variants that contribute significantly to individuals’ performance. ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms are variants frequently associated with athletic performance among different populations. However, there is limited research examining the pre-and post-test results of some variants of athletic performance in soccer players. Therefore, the presented research is to examine the relationships between the ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms and athletic performance improvement rates in adaptations to six weeks of training in elite soccer players using some athletic performance tests.MethodologyTwenty-two soccer players between the ages of 18 and 35 voluntarily participated in the study. All participants were actively engaged in a rigorous six-day-a-week training program during the pre-season preparation period. Preceding and following the training program, a battery of diverse athletic performance tests was administered to the participants. Moreover, Genomic DNA was extracted from oral epithelial cells using the Invitrogen DNA isolation kit (Invitrogen, USA), following the manufacturer’s protocol. Genotyping was conducted using real-time PCR. To assess the pre- and post-test performance differences of soccer players, the Wilcoxon Signed Rank test was employed.ResultsUpon analyzing the results of the soccer players based on the ACTN3 genotype variable, it was observed that there were no statistically significant differences in the SJ (Squat Jump), 30m sprint, CMJ (Counter Movement Jump), and DJ (Drop Jump) performance tests (p > 0.05). However, a statistically significant difference was identified in the YOYO IRT 2 (Yo-Yo Intermittent Recovery Test Level 2) and 1RM (One Repetition Maximum) test outcomes (YOYO IRT 2: CC, CT, and TT, p = 0.028, 0.028, 0.008, 0.000, respectively; 1RM: CC, CT, and TT, p = 0.010, 0.34, 0.001, respectively). Regarding the PPARA-α genotype variable, the statistical analysis revealed no significant differences in the SJ, 30m sprint, CMJ, and DJ performance tests (p > 0.05). Nevertheless, a statistically significant difference was observed in the YOYO IRT 2 and 1RM test results (YOYO IRT 2: CC, CG p = 0.001, 0.020; 1RM: CC, p = 0.000)ConclusionsThe current study demonstrated significant enhancements in only YOYO INT 2 and 1RM test outcomes across nearly all gene variants following the six-day-a-week training program. Other performance tests, such as the 30m sprint, SJ, CMJ, and DJ tests did not exhibit statistically significant differences. These findings contribute novel insights into the molecular processes involving PPARA-α rs4253778 and ACTN3 rs1815739 that underpin enhancements in endurance (YOYO INT 2) and maximal strength (1RM) aspects of athletic performance. However, to comprehensively elucidate the mechanisms responsible for the association between these polymorphisms and athletic performance, further investigations are warranted. It is thought that the use of field and genetic analyses together to support each other will be an important detail for athletes to reach high performance.

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.

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.

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 < 0.001), with an overrepresentation of the RR genotype (p < 0.05) and an underrepresentation of the RX genotype (p < 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.

Associations of the Alpha-Actinin Three Genotype with Bone and Muscle Mass Loss among Middle-Aged and Older Adults.

Bone and muscle mass loss are known to occur simultaneously. The alpha-actinin three (ACTN3) genotype has been shown to potentially affect bone and muscle mass. In this study, we investigated the association between the ACTN3 genotype and bone and muscle mass loss in community-dwelling adults aged ≥ 60 years. This study was a cross-sectional analysis of data from 295 participants who participated in a community health checkup. The ACTN3 genotypes were classified as RR, RX, or XX types. Bone mass loss was defined as a calcaneal speed of sound T-score of <−1.32 and <−1.37, and muscle mass loss was defined as an appendicular skeletal muscle index of <7.0 kg/m2 and <5.7 kg/m2 in men and women, respectively. The percentages of XX, RX, and RR in the combined bone and muscle mass loss group were 33.8%, 30.8%, and 16.7%, respectively, with a significantly higher trend for XX. Multinomial logistic regression analysis showed that XX had an odds ratio of 3.00 (95% confidence interval 1.05–8.54) of being in the combined bone and muscle mass loss group compared to the RR group (covariates: age, sex, grip strength, and medications). The ACTN3 genotype of XX is associated with a higher rate of comorbid bone and muscle mass loss. Therefore, ACTN3 genotyping should be considered for preventing combined bone and muscle mass loss.

Moderate exercise reveals the influence of ACTN3 R577X and ACE I/D polymorphisms on physical performance in non-athlete active subjects

Genome variations contribute to the vast majority of interindividual differences and may decisively influence sports capability. This study was conceived as a means of finding out when exactly polymorphisms start being physically discriminative. The polymorphisms we studied were two of the best characterized ones: ACE I/D and ACTN3 R577X. These germline variants were determined in a cohort of 200 healthy volunteers from the university environment who underwent a series of physical evaluations that included a Cooper test, a 20-meter sprint test and a vertical jump test. Initially, no statistical association was found because the genetic effect was masked by those subjects with sedentary lifestyles. But when only physically active volunteers were considered, the ACE and ACTN3 genotypes were found to have an impact on heart rate after the Cooper test (p-value = 0.033 and 0.032 respectively) and ACTN3 was found to correlate with the total distance covered in the same test (p-value = 0.051). This can therefore be considered a paradigmatic example in which the environment might hide the genetic effect, with genotypic differences arising only upon training.

Association of Gene Variants for Mechanical and Metabolic Muscle Quality with Cardiorespiratory and Muscular Variables Related to Performance in Skiing Athletes.

Background: Skiing is a popular outdoor sport posing different requirements on musculoskeletal and cardiorespiratory function to excel in competition. The extent to which genotypic features contribute to the development of performance with years of ski-specific training remains to be elucidated. We therefore tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE-I/D, rs1799752), tenascin-C (TNC, rs2104772), actinin-3 (ACTN3, rs1815739) and PTK2 (rs7460 and rs7843014) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level skiers. Material & Methods: Forty-three skiers of a world-leading national ski team performed exhaustive cardiopulmonary exercise testing as well as isokinetic strength testing for single contractions, whereby 230 cardiopulmonary measurements were performed in the period from 2015–2018. A total of 168 and 62 data measurements were from the Alpine and Nordic skiing squads, respectively. Ninety-five and one hundred thirty-five measurements, respectively, were from male and female athletes. The average (±SD) age was 21.5 ± 3.0 years, height 174.0 ± 8.7 cm, and weight 71.0 ± 10.9 kg for the analysed skiers. Furthermore, all skiers were analysed concerning their genotype ACE-I/D, Tenascin C, ACTN3, PTK2. Results: The genotype distribution deviated from Hardy–Weinberg equilibrium for the ACTN3 genotype, where rs1815739-TT genotypes (corresponding to the nonsense mutation) were overrepresented in world-class skiers, indicating a slow muscle fibre phenotype. Furthermore, the heterozygous rs2104772-AT genotypes of TNC also demonstrated the best scaled peak power output values during ramp exercise to exhaustion. The highest values under maximum performance for heart rate were associated with the rs1799752-II and rs1815739-CC genotypes. The lowest values for peak power of single contractions were achieved for rs1815739-CC, rs1799752-II and rs7843014-CT genotypes. The skiing discipline demonstrated a main influence on cardiorespiratory parameters but did not further interact with genotype-associated variability in performance. Discussion: Classically, it is pointed out that muscles of, for example, alpine skiers do not possess a distinct fibre type composition, but that skiers tend to have a preponderance of slow-twitch fibres. Consequently, our findings of an overrepresentation of ACTN3-TT genotypes in a highly selective sample of elite world class skiers support the potential superiority of a slow fibre type distribution. Conclusions: We suggest that one competitive advantage that results from a slow, typically fatigue-resistant fibre type distribution might be that performance during intense training days is better preserved, whereby simply a higher technical training volume can be performed, yielding to a competitive advantage.

Association of the ACTN3 rs1815739 Polymorphism with Physical Performance and Injury Incidence in Professional Women Football Players.

The p.R577X polymorphism (rs1815739) in the ACTN3 gene causes individuals with the XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries, in comparison with RR and RX athletes who produce a functional α-actinin-3 in their fast-twitch fibers. This investigation aimed to determine the influence of the ACTN3 R577X polymorphism on physical performance and injury incidence of players competing in the women’s Spanish first division of football (soccer). Using a cross-sectional experiment, football-specific performance and epidemiology of non-contact football-related injuries were recorded in a group of 191 professional football players. ACTN3 R577X genotype was obtained for each player using genomic DNA samples obtained through buccal swabs. A battery of physical tests, including a countermovement jump, a 20 m sprint test, the sit-and-reach test and ankle dorsiflexion, were performed during the preseason. Injury incidence and characteristics of non-contact injuries were obtained according to the International Olympic Committee (IOC) statement for one season. From the study sample, 28.3% of players had the RR genotype, 52.9% had the RX genotype, and 18.8% had the XX genotype. Differences among genotypes were identified with one-way analysis of variance (numerical variables) or chi-square tests (categorical variables). Jump height (p = 0.087), sprint time (p = 0.210), sit-and-reach distance (p = 0.361), and dorsiflexion in the right (p = 0.550) and left ankle (p = 0.992) were similar in RR, RX, and XX football players. A total of 356 non-contact injuries were recorded in 144 football players while the remaining 47 did not sustain any non-contact injuries during the season. Injury incidence was 10.4 ± 8.6, 8.2 ± 5.7, and 8.9 ± 5.3 injuries per/1000 h of football exposure, without differences among genotypes (p = 0.222). Injury rates during training (from 3.6 ± 3.7 to 4.8 ± 2.1 injuries per/1000 h of training exposure, p = 0.100) and match (from 47.8 ± 9.5 to 54.1 ± 6.3 injuries per/1000 h of match exposure, p = 0.209) were also similar in RR, RX, and XX football players. The ACTN3 genotype did not affect the mode of onset, the time needed to return to play, the type of injury, or the distribution of body locations of the injuries. In summary, women football players with different genotypes of the p.R577X ACTN3 polymorphism had similar values of football-specific performance and injury incidence. From a practical perspective, the ACTN3 genotyping may not be useful to predict performance or injury incidence in professional women football players.

Genetics and Sport Injuries: New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players.

Several genes are involved in sport performance, especially in injuries incidence. The aim of this study was to investigate the association of ACE, ACTN3, COL1A1, and MCT1 genotypes and injuries in rugby players in order to find a genotype/phenotype correlation and provide useful information improving athletic performance. One-hundred male professional and semiprofessional rugby players were selected. Analysis was performed genotyping the genes ACE, ACTN3, COL1A1, and MCT1 as candidate gene of interest involved in athletic performance. A control group of non-athletic Italian male participants was analyzed to compare the results. We found statistical significance of MCT1 rs1049434 AA for total injuries (χ2 = 0.115; p = 0.003) and bone injuries (χ2 = 0.603; p = 0.007) in the rugby athlete population. No statistical significance was found between injury incidence and ACE, ACTN3, COL1A1 genotypes. The MCT1 AA genotype is associated with the incidence of total and bone injuries in the rugby player population. Although environmental factors such as lifestyle, diet, training, and stress can influence athletic performance, our data demonstrated the importance of genetic study in sport aimed at developing personalized training and achieving the best possible athletic excellence.

Serum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Becker muscular dystrophies.

Serum cardiac troponin I (cTnI), its relation to cardiomyopathy, and the contribution of the ACTN3 genotype to serum levels of cTnI in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) remain unknown. In this study we aimed to reveal the characteristics of cTnI, assess whether cTnI is a biomarker for cardiomyopathy in these dystrophinopathies, and evaluate the contribution of the ACTN3 genotype to the serum levels of cTnI in DMD patients. Serum cTnI values obtained from 127 DMD and 47 BMD patients were analyzed retrospectively. The relationship between cTnI and echocardiography data or the ACTN3 XX genotype was assessed. The cTnI levels and proportion of patients with abnormal cTnI levels were significantly higher among DMD patients than BMD, especially in the second decade of life. In DMD, the cTnI level reached a maximum at 13 years, and left ventricular ejection fraction (LVEF) became abnormal approximately 1year subsequently. In BMD, the cTnI level peaked at the age of 14 years, and LVEF became abnormal 3 years later. Decreased LVEF was observed after cTnI elevation in both populations. cTnI levels by age in DMD patients with the ACTN3 XX genotype tended to increase significantly and early. Myocardial injury indicated by cTnI elevation was more common and severe in DMD patients. cTnI elevation preceding cardiac dysfunction may represent an early phase of cardiomyopathy progression and may be a biomarker for early detection of cardiomyopathy in these dystrophinopathies. The ACTN3 XX genotype may be a risk factor for early myocardial injury.

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&gt;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.

ACTN3 genotype influences masseter muscle characteristics and self-reported bruxism.

Main aim of the study was to explore the association between genetic polymorphisms in ACTN3 and bruxism. Secondary objectives included masseter muscle phenotypes assessment between bruxers and non-bruxers and according to genetic polymorphisms in ACTN3. Fifty-four patients undergoing orthognathic surgery for correction of their malocclusion were enrolled. Self-reported bruxism and temporomandibular disorders status were preoperatively recorded. Saliva samples were used for ACTN3 genotyping. Masseter muscle samples were collected bilaterally at the time of orthognathic surgery to explore the muscle fiber characteristics. There were significant differences in genotypes for rs1815739 (R577X nonsense) (p=0.001), rs1671064 (Q523R missense) (p=0.005), and rs678397 (intronic variant) (p=0.001) between bruxers and non-bruxers. Patients with self-reported bruxism presented a larger mean fiber area for types IIA (p=0.035). The mean fiber areas in individuals with the wild-type CC genotype for rs1815739 (R577X) were significantly larger for type IIA fibers (1394.33μm2 [572.77μm2 ]) than in those with the TC and TT genotypes (832.61μm2 [602.43μm2 ] and 526.58μm2 [432.21μm2 ] [p=0.014]). Similar results for Q523R missense and intronic variants. ACTN3 genotypes influence self-reported bruxism in patients with dentofacial deformity through specific masseter muscle fiber characteristics.

Is there a relationship between ACTN3 R577X gene polymorphism and sarcopenia?

The alpha-actinin (ACTN) genes are important structural components of the sarcomere. Sarcopenia is a common geriatric syndrome characterized by morbidity and mortality. Our study aimed to examine the relationship between the ACTN3 R577X gene and sarcopenia in community-dwelling Turkish adults. We designed a cross-sectional study among the patients aged ≥ 65years admitted to the geriatric outpatient clinic. We recorded the general characteristics of the patients. We used the Jamar hand dynamometer to evaluate handgrip strength. Body composition was estimated using bioimpedance analysis. Sarcopenia was diagnosed according to the European Working Group on Sarcopenia in Older People2 criteria with population-specific cutoffs. We performed analyses of low muscle mass (LMM) with skeletal muscle mass index adjusted for body mass index [SMMI(BMI)]. We further categorized the SMMI(BMI) cutoffs into tenths. The analyzes were performed according to the 90th percentile SMMI(BMI) cutoffs. Peripheral blood samples were collected to determine the ACTN3 genotypes. 197 participants were included [mean age: 76.3 ± 6.1years, 151 (76.6%) women]. The proportions of the ACTN3 genotypes were as follows: RX (45.1%) > RR (31%) > XX (23.9%). The significant difference between genotypes was found only for low SMMI(BMI) according to the 90th percentile (p = 0.025). In multivariate analysis, only gender (female) was independently associated with LMM. We did not find any association between ACTN3 R577X gene polymorphism and probable sarcopenia, confirmed sarcopenia and LMM. Besides, much more research is needed to reveal how ethnicity affects the muscles of older adults with ACTN3 R577X gene polymorphism.

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.

ACTN3 Genotypes and Their Relationship with Muscle Mass and Function of Kosovan Adults.

Maintaining muscle mass and function is important throughout the lifestyle. While environmental factors such as physical activity and healthy nutrition are well investigated, the contribution of genetic factors is still controversial. Therefore, we aimed to investigate the impact of a common ACTN3 polymorphism (rs1815739) on body composition, handgrip strength, knee extensor peak torque, and physical performance (gait speed, 30-s arm curl, 30-s chair stand) in Kosovan adults. In total, 308 participants (160 females and 148 males, age range from 40 to 91 years) took part in this cross-sectional study. Genomic DNA was extracted from saliva and assessed for ACTN3 genotype distribution (41.5% of RR, 53.9% of RX and 4.6% of XX). Genotype allocation did not account for differences in any of the variables. Interestingly, female XX carriers were taller (p = 0.025) and had a higher isokinetic knee extension peak torque (p = 0.024) than the RX+RR group. In males, XX carriers were also taller (p = 0.049) and had a lower BMI (p = 0.026), but did not differ in any of the strength and performance parameters. These results indicate that the ACTN3 R577X polymorphism might exert a sex-specific impact on knee extensor peak torque and BMI.

Associations of alpha-actinin-3 genotype with thigh muscle volume and physical performance in older adults with sarcopenia or pre-sarcopenia

BackgroundThis cross-sectional study aimed to investigate the relationship of the ACTN3 genotype with thigh muscle volume and physical performance in older adults with sarcopenia or pre-sarcopenia. MethodsData from 64 older Japanese adults (mean age 74.4 ± 6.9 years, women 71.9%) with sarcopenia or pre-sarcopenia were analyzed. Sarcopenia and pre-sarcopenia were defined using the Asian Working Group for Sarcopenia. We collected oral mucosa samples to determine the ACTN3 genotype. Thigh muscle volumes were measured using magnetic resonance imaging. Physical performance was assessed using the usual and maximum gait speed, timed up and go test, and five-repetition sit-to-stand test. Muscle strength was assessed using grip strength. ResultThe ACTN3 genotype proportions were 20.3% for RR, 51.6% for RX, and 28.1% for XX. Participants with the RR genotype showed greater thigh muscle volume/ht2 compared to those with the RX and XX ACTN3 genotypes (p < 0.05). The multiple linear regression analysis revealed that RX (p < 0.01) and XX (p < 0.01) ACTN3 genotypes, compared to RR, were associated with lower thigh muscle volume/ht2 and with age, sex (reference; men), weight and maximum walking speed. There was no significant difference between physical performance and muscle strength between the ACTN3 genotypes. ConclusionThe ACTN3 genotype of the X allele was associated with decreased thigh muscle volume compared to the ACTN3 genotype of RR in older adults with sarcopenia or pre-sarcopenia.