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.

Análisis de los polimorfismos ECA y ACTN3 con la agilidad en seleccionados nacionales de deportes de conjunto de Costa Rica. Estudio piloto / ACE and ACTN3 polymorphisms analysis on agility test in national players in team sports of Costa Rica. Pilot study / Análise dos polimorfismos ECA e ACTN3 com agilidade em jogadores esportivos selecionados da seleção costarriquenha. Estudo piloto

Resumen: Objetivo: Analizar las diferencias de los polimorfismos de los genes ECA y ACTN3 en el rendimiento de una prueba de agilidad en jugadores élite de deportes colectivos pertenecientes a selecciones nacionales de Costa Rica. Metodología: Se contó con una muestra de 33 jugadores hombres, de deportes colectivos (fútbol sala, rugby, voleibol y balonmano). Para la evaluación de la agilidad se utilizó el test de Illinois. Se realizaron dos visitas, en la primera se obtuvo muestras de células por medio de un enjuague y en la segunda se aplicó la prueba de agilidad. Se utilizó la prueba de Chi-cuadrado (X2) para conocer las diferencias entre las frecuencias de los polimorfismos de los genes ECA y ACTN3 y el tipo de deporte. Resultados: La mayor distribución de los polimorfismos del gen ECA, de jugadores de selecciones nacionales de deportes de conjunto, se encuentra en el ID (X2= 6.87, p= .334) y en ACTN3 el RX (X2= 6.33, p= .388). Además, tampoco se encontraron diferencias significativas entre el tiempo efectuado en el test de Illinois y los polimorfismos del gen ECA (F= 2.150, p= .134), de igual forma para los polimorfismos del gen ACTN3 (F= .950, p= .339). Conclusiones: Los polimorfismos de los genes ECA y ACTN3 no se relacionaron estadísticamente con el tipo de deporte colectivo. La agilidad no se ve asociada por un tipo de polimorfismo, lo que indica que, de forma independiente al gen, esta cualidad física se puede entrenar y generar buenos resultados en la población en general.

Abstract: Objective: To analyze the differences in the polymorphisms of the ACE and ACTN3 genes on agility test performance in elite players of collective sports from National teams of Costa Rica. Methods: a sample of 33 male team sports players (futsal, rugby, volleyball, and handball). All subjects were tested with the Illinois Agility Test. Two days of measurements were made; on the first day, cell samples were obtained and on the second day, the agility test was applied. The Chi-square test (x2) was used to determine the differences between the frequencies of the polymorphisms of the ACE and ACTN3 genes and the type of sport. Results: The highest distribution of polymorphisms of the ECA gene of players from national teams of collective sports was found in the ACE ID (X2 = 6.87, p = .334), and in ACTN3 the RX (X2 = 6.33, p =. 388). Furthermore, no significant relationship was found between the Illinois test performance and the polymorphisms of the ECA gene (F = 2,150, p = .134). Conclusions: The ACE and ACTN3 genes polymorphisms were not statistically related to the type of team sport. Agility is not associated with the type of polymorphism, which indicates that regardless of the gene, this physical quality can be trained and generate good results in the general population.

Resumo: Objetivo: analisar as diferenças dos polimorfismos dos genes ECA e ACTN3 na realização de um teste de agilidade em jogadores de elite de equipes esportivas pertencentes a equipes nacionais costarriquenhas. Metodologia: foi utilizada uma amostra de 33 jogadores de futebol masculino (futsal, rúgbi, vôlei e handebol). O teste de Illinois foi usado para avaliar a agilidade. Foram feitas duas visitas; na primeira foram obtidas amostras de uma célula por lavagem e na segunda foi aplicado o teste de agilidade. O teste qui-quadrado (X2) foi usado para determinar as diferenças entre as frequências dos polimorfismos dos genes ECA e ACTN3 e o tipo de esporte. Resultados: A maior distribuição de polimorfismos do gene ECA em jogadores de equipes nacionais de esportes coletivos é encontrada no ID (X2= 6,87, p= 0,334) e no ACTN3 no RX (X2= 6,33, p= 0,388). Além disso, não foram encontradas diferenças significativas entre o tempo gasto no teste de Illinois e os polimorfismos do gene ECA (F= 2,150, p= 0,134), assim como para os polimorfismos do gene ACTN3 (F= 0,950, p= 0,339). Conclusões: Os polimorfismos dos genes ECA e ACTN3 não estavam estatisticamente relacionados com o tipo de esporte coletivo. A agilidade não está associada pelo tipo de polimorfismo, indicando que, independentemente do gene, essa qualidade física pode ser treinada e gerar bons resultados na população em geral.

Natación artística en niñas: antropometría, genotipo y rendimiento deportivo / Artistic Swimming in Girls: Anthropometrics, Genotype and Athletic Performance

En cada deporte es importante optimizar peso y composición corporal y la genética y los datos antropométricos pueden influir en rendimiento deportivo y salud, sobre todo en deportistas menores. Este estudio analiza 60 nadadoras artísticas entre 9 y 17 años, divididas en tres grupos de edad: ≤12, 13-15 y 16-17 años. Se realizó un análisis de medidas antropométricas, edad de menarquia, genotipo relacionado con rendimiento (gen ACTN3) y resultados deportivos, con objetivo de relacionar estos parámetros entre sí en los grupos de edad. Las nadadoras de mayor edad mostraron tendencia a portar el genotipo heterocigoto RX de ACTN3. En este estudio, la práctica de este deporte podría tener impacto en índice de masa corporal, pliegue tricipital, peso y edad de menarquia. La mayor prevalencia del genotipo heterocigoto ACTN3 R577X podría ofrecer una ventaja, pero el rendimiento en competición de las nadadoras artísticas tuvo poca relación con sus medidas antropométricas. (AU)

In sport, optimizing weight and body composition is important for performance although an excessive drive for thinness can lead to diminished performance and health problems. This is especially important in the youngest athletes. This study examines 60 national competition-level Spanish artistic swimmers aged 9-17 years. Participants were divided into 3 categories: 12 years and under, 13-15 and 16-17 years. The data analysed were anthropometric measures, menarche age, genotype related to performance (gene ACTN3) and athletic performance. Relationships between athletic performance and anthropometric or genetic data were compared among the three age groups. Swimmers showed a tendency to carry the heterozygous genotype RX of the ACTN3 gene in the older age group. In this study, this sport could have an impact on body mass index, triceps skinfold, weight, menarche age, and selection of one genotype, but the performance in competition of the artistic swimmers had little linking to anthropometric measures. (AU)

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

BACKGROUND AND AIMS: 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. METHODS: We designed a cross-sectional study among the patients aged ≥ 65 years 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. RESULTS: 197 participants were included [mean age: 76.3 ± 6.1 years, 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. CONCLUSION: 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.

Association between ACTN3 gene R577X polymorphism and blood lipid levels in an elderly Chinese Han population in Rugao,China / 复旦学报（医学版）

Objective To explore the association between ACTN3 gene R577X polymorphism and serum lipid levels in an elderly Chinese Han population.Methods This study was based on the ageing arm of The Rugao Longevity and Ageing Study (RtLAS).Genotyping was performed by Taqman MGB method.Lipids includedtotal cholesterol (TC),triglyceride (TG),high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C).Cut points of dyslipidemia were based on that reported in the NCEP ATPIII.We explored the associations between R577X polymorphism loci and dyslipidemia by using analysis of covariance and logistic regression analysis.Results Overall 1 618 samples was included (741 males and 877 females) in this study.Covariance analysis found that TC level of RR,XX and RX genotype in the general population were 1.34,1.37,1.43 mmol/L with an increasing trend (P =0.024);TC and LDL-C levels of RR,XX and RX genotype (TC:5.13,5.29,5.43 mmol/L,P =0.004;LDL-C:2.76,2.88,3.00 mmol/L,P =0.004) were significantly different in females.Logistic regression analysis showed that the increased copies of X allele were significantly associated with increased TC and LDL-C levels in the general population and females.For the general population,TC:OR=1.184,95％CI:1.030-1.361,P =0.018;LDL-C:OR =1.334,95％CI:1.101-1.588,P=0.003;For females,TC:OR=1.332,95％ CI:1.102-1.616,P =0.003;LDL-C:OR =1.549,95 ％CI:1.208-1.986,P =0.001.After adjusting for other covariates,the above associations remained significant.Conclusions ACTN3 gcnc R577X polymorphism is associated with plasma TC and LDL-C levels in elderly woman of Han populations in Rugao,China.

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

OBJECTIVE: This study analysed the risk factors associated with metabolic syndrome through the interaction between ACTN3 and ACE gene polymorphism in Korean children. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

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

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

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

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

Relationship between ACTN3 R577X polymorphism and maximal power output in elite Polish athletes.

BACKGROUND AND OBJECTIVE: The main purpose of this study was to examine the association between ACTN3 R577X polymorphism and the ability to produce peak power in young male athletes from various sports. Our hypothesis was that the ACTN3 R577X polymorphism is associated with jumping performance and athletes with RR genotype have better scores in tests than athletes with XX or RX genotype independently of the sport discipline. MATERIALS AND METHODS: Two hundred young Polish male participants representing different disciplines were recruited for this study. Genotyping for ACTN3 gene was performed using polymerase chain reaction. The power output of lower extremities and the height of rise of the body mass center during vertical jumps were measured on a force plate. RESULTS: The genotype distribution of the ACTN3 gene did not differ significantly between groups of athletes. The significant difference in height of counter-movement jump was found between athletes with RR and XX genotype (0.446±0.049m vs. 0.421±0.036m, respectively, P=0.026). The ACTN3 RR genotype was associated with greater muscle power and height of jump in young male athletes. CONCLUSIONS: These results suggest that the ACTN3 gene may play a significant role in determining muscle phenotypes. However, this gene is only one of many factors which could contribute to athletes' performance and muscle phenotypes.