Investigação da relação do polimorfismo rs1815739 do gene ACTN3 e sintomas osteomusculares em atletas da caminhada ecológica de Goiás

Abstract

The ACTN3 gene encodes the α-actinin-3 protein, which is present in type II fast muscle fibers and is associated with muscle power. The rs1815739 polymorphism may result in the functional absence of this protein in individuals with the TT genotype, favoring greater metabolic efficiency and resistance to fatigue, but with reduced explosive capacity. The CC genotype is associated with strength, speed, and power, whereas the CT genotype presents an intermediate profile, with adaptive characteristics of moderate strength and prolonged endurance. The present study aimed to investigate the association between the ACTN3 gene polymorphism rs1815739 and the predisposition to musculoskeletal symptoms in athletes participating in the 31st Ecological Walk of the State of Goiás, held in 2024. This is an analytical and quantitative study based on the assessment of athletes of both sexes, over 18 years of age, who passed the selective physical fitness tests. Sociodemographic, anthropometric, and clinical information were collected, in addition to the administration of the Nordic Musculoskeletal Questionnaire (NMQ) to assess discomfort in the last 12 months and 7 days. Genotyping was performed using peripheral blood samples, utilizing the real-time PCR technique for allele identification. Statistical analysis was performed using SPSS software, using the Chi-square test to verify Hardy-Weinberg equilibrium and genotypic associations, with a significance level of 5%. This research was approved by the Research Ethics Committee of the Pontifical Catholic University of Goiás under opinion No. 6.137.377. It was observed that the heterozygous genotype (CT) was predominant, representing 50% of the sample, followed by the homozygous CC with 34.62% and homozygous TT with 15.38%, with the population being in Hardy-Weinberg equilibrium (p = 0.98). The frequency of musculoskeletal symptoms was 30.8% in the last 12 months; however, there was no statistically significant association between ACTN3 genotypes and the presence of these symptoms (p = 0.65). Comparison with the ALFA database revealed similarity with the Latin American 1 population. It is concluded that the ACTN3 gene polymorphism rs1815739 showed no direct relationship with susceptibility to musculoskeletal symptoms in the evaluated athletes, indicating that this marker does not act in isolation in the predisposition to injuries.