Frequência e distribuição do gene da α-actinina-3 e sua associação em atletas brasileiras de voleibol / Frequency and distribution of the α -actinin-3 gene and its association in brazilian volleyball athletes

Introduction: The ACTN3 gene encodes the α-actinin-3 protein in the Z lines of the sarcomere, which anchors the actin protein in the contractile apparatus, present exclusively in type II muscle fibers, presenting greater glycolytic capacity, which is essential for sports with high-energy actions. intensity and short duration as is the case with Volleyball. Objective: To verify the frequency and distribution of the ACTN3 gene, RR and RX genotypes that express α-actinin-3 (EX α-actinin-3), and XX genotype that do not express α-actinin-3 (NE α-actinin-3) and its association with Brazilian volleyball athletes. Materials and Methods: Nine-seven (97) athletes from the women's volleyball super league took part in the study. Body mass, height and age were evaluated to characterize the sample. Salivary samples were analyzed using (PCR) in real time, to determine the genotypes, and, to verify the association of the genotype with the status of volleyball athlete in the three categories (National Teams, Brazilian National Team and Brazilian Olympic Team), the test was carried out Chi-square of independence (χ²). To obtain the odds ratio of the outcome, a log linear regression analysis was performed. All tests were carried out using the JAMOVI 2.4 (2023) statistical software. Results: Among the athletes in the sample competing in the National Teams competition, 91.8% have the EX-α-actinin-3 genotype. When we consider Brazilian National Team competitions, 93.7% have the EX-α-actinin-3 genotype. Athletes who play for the Brazilian Olimpic Team, 100% of the sample have the EX-α-actinin-3 genotype. Considering that in the world population, the frequency is 80%, it is possible to verify that as you approach the athletes who participate in the women's team there is a greater participation of athletes with the EX-α-actinin-3 genotype. Furthermore, there was an association between the genotypes that EX α-actinin-3 and the National category, with the status of elite athlete, where (χ²) obtained the p value (0.023) and the rate ratio (2.71) for the outcome of the genotypes (EX α-actinin-3) being elite athletes. Conclusion: The athlete's genetic characteristics, environment, nutrition, physical, technical and tactical preparation are some of the factors that contribute to sports performance. However, the results of the present study suggest that athletes with RR and RX genotypes that express α-actinin-3, present in type II muscle fibers, seem to confer an advantage when playing high-performance volleyball.

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.

Can a genetic profile be related to performance in young talent track and field athletes? A pilot study

Abstract Aim: This study analyzed the influences of ACE and ACTN3 gene variants in sprinters, jumpers, and endurance young athletes of track and field. Methods: 36 school-level competitors of both sex (15 girls and 21 boys; aged 16.4 ± 1.2 years; training experience 4 ± 1.2 years) practitioners of different sport disciplines (i.e., sprint, jump, and endurance athletes) participated in the study. The deoxyribonucleic acid (DNA) was extracted from peripheral blood using a standard protocol. Anthropometric measurements, 30 m sprint, squat jump (SJ), and maximal oxygen uptake (VO2max) tests were measured. Results: Genotype distribution of the ACE and ACTN3 genes did not differ between groups. In ACE DD and ACTN3 RX genotypes, the SJ test was bigger in sprinters and jumpers than in the endurance runners. In contrast, when analyzing the ACE ID genotype, sprinters had higher SJ than endurance athletes. Moreover, in the ACE DD genotype, the sprinters and jumpers' athletes had lower time in 30 m tests compared to endurance runners. However, the ACE ID and ACTN3 RX genotypes was greater aerobic fitness in endurance runners than in jumpers' athletes. Conclusion: Although the genetic profile is not a unique factor for determining athletic performance, the ACE DD and ACTN3 RX genotypes seem to favor athletic performance in power and sprint versus endurance sports. Thus, this study evidenced that assessing genetic variants could be used as an auxiliary way to predict a favorable profile for the identification of young talents of track and field.

Meta-Analysis of association between single nucleotide polymorphisms with sports injuries in soccer / Metaanálisis de asociación entre polimorfismos de nucleótido único y lesiones deportivas en fútbol

Abstract Introduction: The high incidence of sports injuries in elite athletes is a concern in sports medicine. A broad vision of sport injuries in Colombia and its pathophysiology can be achieved in the scope of genomics, which could respond to numerous sports injuries from the Identification of single nucleotide polymorphism that lead to disabilities that affect the health of athletes and often distance them from the field of play. Objective: To determine the association of single nucleotide polymorphisms in various genes with sports injuries in soccer. Material and methods: We searched in the databases PubMed, ScienceDirect and EBSCO for studies published in the last 6 years to January 2020, including studies in English and Portuguese, corresponding to case-control clinical studies, where the experimental group were soccer practitioners and controls were supposedly healthy people. The final papers were assessed for quality and bias using the Jadad scoring scale or Oxford quality scoring system. From the data obtained, heterogeneity was identified with the I2 test and the Q statistic, for the estimation of the effect in the cohort studies the odds ratio and p value <0.05 were used, obtaining the forest plots of each gen. Results: 10 out of 1928 studies were selected, finding a degree of heterogeneity in all studies, such as the risk of injury to ACNT3 SNP (OR = 0.98, 95% CI 0.64-1.50), MMP (OR = 1.16, 95% CI 0.86 - 1.58, p = 0.33), TIMP2 (OR 1.03 95% CI 0.65-1.63), VEFGA (OR 0.98 95% CI 0.70-1.37). Conclusion: The studies showed moderate heterogeneity with statistical significance for the ACTN3 and TIM SNPs, providing a pathway for future studies that relate to sports injuries. MÉD.UIS.2021;34(3): 9-18.

Resumen Introducción: La alta incidencia de lesiones deportivas en atletas de élite es una preocupación en medicina deportiva. Se puede lograr una visión amplia sobre las lesiones deportivas en Colombia y sobre su fisiopatología desde el ámbito de la genómica, la cual podría responder a numerosas lesiones deportivas a partir de la Identificación de polimorfismos de nucleótido único que conducen a discapacidades que afectan la salud de los deportistas y frecuentemente los distancian del campo de juego. Objetivo: Determinar la asociación entre polimorfismos de nucleótido único en varios genes con lesiones deportivas en el fútbol. Materiales y métodos: Se realizó búsqueda en las bases de datos PubMed, ScienceDirect y EBSCO de estudios publicados en los últimos 6 años hasta enero de 2020, incluyendo estudios en inglés y portugués, correspondientes a estudios clínicos de casos y controles, donde el grupo experimental fueran practicantes de fútbol y los controles fueran personas presumiblemente saludables. Se evaluó la calidad y el sesgo de los artículos finales mediante la escala de puntuación de Jadad o el sistema de puntuación de calidad de Oxford. A partir de los datos obtenidos se identificó la heterogeneidad con la prueba de I2 y el estadístico Q, para la estimación del efecto en los estudios de cohorte se utilizaron odds ratio y valor p <0.05, obteniendo los forest plot de cada gen. Resultados. 10 de los 1928 estudios fueron seleccionados, se encontró un grado de heterogeneidad en todos los estudios, como el riesgo de lesión de los polimorfismos de nucleótido único para ACNT3 (OR = 0,98; IC del 95%: 0.64-1.50), MMP (OR = 1.16; IC del 95%: 0.86-1.58, p = 0.33), TIMP2 (OR = 1,03; IC del 95%: 0,65-1,63), VEFGA (OR = 0,98; IC del 95%: 0,70-1,37). Conclusión. Los estudios mostraron una heterogeneidad moderada con significancia estadística para los polimorfismos de nucleótido único de ACTN3 y TIM, lo que proporciona una vía para futuros estudios en relación con lesiones deportivas. MÉD.UIS.2021;34(3): 9-18.

Polimorfismo genético ACTN3 R577X en deportistas universitarios chilenos / ACTN3 R577X gene polymorphism in Chilean college athletes

Uno de los principales factores genéticos que influenciarían el rendimiento muscular humano es el gen ACTN3, que codifica la proteína estructural del sarcómero α-actinina-3. El polimorfismo R577X (rs1815739) del gen ACTN3 ha sido asociado con varios indicadores de rendimiento muscular y físico en deportistas y población general, pero este fenómeno ha sido escasamente descrito en poblaciones de Latinoamérica y Chile. Por lo tanto, el objetivo del presente estudio fue describir la frecuencia genotípica y distribución alélica de los genotipos de ACTN3 R577X en deportistas universitarios chilenos. 129 deportistas universitarios chilenos representantes de diferentes selecciones deportivas (halterofilia, balonmano, voleibol, rugby, basquetbol, futbol y futsal) participaron como voluntarios. Los análisis moleculares del polimorfismo R577X del gen ACTN3 fueron realizados mediante reacción en cadena de la polimerasa (PCR) y restricción enzimática (RFLP). La distribución de genotipos del polimorfismo ACTN3 R577X fue RR: 34,8 % (n=45), RX: 50,4 % (n=65), XX: 14,7 % (n=19), y la frecuencia relativa de alelos fue R: 0,601 y X: 0,399. Además, se encontró asociación entre distribución de genotipos (c2= 12,26; 2 gl; p=0,002) y frecuencia relativa de alelos (c2= 11.02; 1 gl; p=0.0009) con el sexo de los participantes. Sin embargo, no hubo asociación al realizar análisis por tipo de deporte practicado. Los hallazgos de la presente investigación sugieren que el polimorfismo R577X del gen ACTN3 está asociado con el sexo en deportistas universitarios chilenos. Además, estos resultados describen de forma inédita la distribución genotípica y frecuencia alélica de esta variante genética en población chilena, mostrando una distribución similar a otros estudios realizados en poblaciones de deportistas en Brasil, Rusia, Estados Unidos y Turquía. No obstante, también muestra diferencias con otras poblaciones generales y de deportistas.

One of the main genetic factors that influence the muscular performance is the gene that encodes the structural protein α-actinin-3 (ACTN3). The R577X polymorphism (rs1815739) of ACTN3 has been associated with indicators of muscle and physical performance in athletes and general population, but this has been scarcely described in the Latin American and Chilean population. Thus, the aim of the present study was to describe the genotypic frequency and allelic distribution of ACTN3 R577X genotypes in college athletes. A total of 129 unrelated Chilean college athletes representing various sport disciplines (weightlifting, handball, volleyball, rugby, basketball, soccer and futsal) were volunteered for the study. ACTN3 R577X gene polymorphism was analysed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). For the total sample the genotypes distribution for R577X polymorphism was RR: 34.8 % (n=45), RX: 50.4 % (n=65), XX: 14.7 % (n=19), and the relative frequency of alleles was R: 0,601 and X: 0,399. Moreover, an association was found between genotype distribution (c2= 12.26; 2 df; p=0.002) and allele frequencies (c2= 11.02; 1 df; p=0.0009) with the sex of the participants. However, there were no associations when performing analysis by type of sports. These findings suggest that the R577X polymorphism of the ACTN3 gene is associated with sex in Chilean college athletes. Furthermore, these results describe in an unprecedented manner, the genotypic distribution and allelic frequency of this genetic variant in Chilean population, showing a similar distribution to other studies conducted in populations of athletes in Brazil, Russia, the United States and Turkey. However, it also shows differences with other general and athletes populations.

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 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.

ACtn3 e desempenho esportivo: um gene candidato ao sucesso em provas de curta e longa duração / ACTN3 gene and sports performance: a candidate gene to success in short and long duration events

O presente estudo revisou evidências acerca da relação entre o polimorfismo R577X do gene ACTN3 e o desempenho esportivo. Foram acessados estudos na base Pubmed através das palavras-chave: ACTN3 gene e sports performance. O gene ACTN3 codifica para uma proteína presente nas fibras musculares esqueléticas tipo II, a α-actinina-3. A maioria dos estudos demonstra uma relação entre a presença da α-actinina-3 e a capacidade de geração de força muscular. Porém, estudos recentes apontam que a ausência da forma funcional dessa proteína pode regular a utilização de substratos durante o exercício, priorizando o metabolismo oxidativo, poupando glicogênio muscular e favorecendo o desempenho em atividades de longa duração. Porém, ainda são necessários mais estudos envolvendo humanos para elucidar melhor esse papel metabólico.

The aim of the present study was to review the evidence on the relationship between the R577X polymorphism of the ACTN3 gene and sports performance. The Pubmed database was searched using ACTN3 gene AND sports performance as keywords. The ACTN3 gene encodes a muscle-specific protein, called α-actinin-3, which is only present in type II fibers. Most studies have demonstrated a relationship between the presence of α-actinin-3 and the ability of muscle to generate force. However, recent studies suggest that the absence of the functional form of this protein may regulate substrate utilization during exercise, giving priority to oxidative metabolism, sparing muscle glycogen, and improving performance in long-duration events. Nevertheless, further studies involving humans are needed to better understand the metabolic role of this protein.

THE <i>ACTN3</i> R577X NONSENSE ALLELE IS UNDER-REPRESENTED IN ELITE-LEVEL JAPANESE ENDURANCE RUNNERS / 体力科学

<b>Background:</b> Although previous reports have shown a lower proportion of the ACTN3 XX genotype (R577X nonsense polymorphism) in sprint/power athletes compared with controls, possibly attributed to the importance of skeletal muscle function associated with alpha-actinin-3 deficiency, the findings on association between endurance athlete status and R577X genotype are equivocal. <b>Purpose:</b> The present study was undertaken to examine association of <i>ACTN3</i> R577X genotype with elite Japanese endurance athlete status. <b>Subjects and Methods:</b> Subjects comprised 79 elite Japanese endurance runners (E) who participated in competition at national level and 96 Japanese controls (C). We divided endurance runners into two groups, i.e., 42 national level runners (E-N) and 37 international level runners (E-I) who had represented Japan in international competition. R577X genotype (rs1815739) was analyzed by direct sequencing. Frequency differences of polymorphisms between athletes and controls were examined by Chi-square tests. <b>Result:</b> The R allele frequency tended to be higher in E group than in C group (P=0.066). When we divided E into two groups, the R allele frequency in E-I group was significantly higher than that in C group (P=0.046); whereas there were no significant differences between E-N and C groups (p=0.316). Then, the three genetic models were tested. In the additive genetic model (RR>RX>XX), there were significantly differences between E-I and C (P=0.038), but not the dominant (RR vs. RX+XX) and the recessive (RR+RX vs. XX) genetic models. <b>Conclusion:</b> R allele of the R577X genotype in the <i>ACTN3</i> gene was associated with elite Japanese endurance athlete status.