R577X OF THE ACTN3 GENE AS PREDICTOR OF PHYSICAL PERFORMANCE IN ULTRAMARATHON RUNNERS

Marcelo Romanovitch Ribas,Hiago Augusto Zonatto,Danieli Isabel Romanovitch Ribas,Julio Cesar Bassan

doi:10.1590/1517-869220202606221667

Marcelo Romanovitch Ribas, Hiago Augusto Zonatto + Show 2 more

Open Access

https://doi.org/10.1590/1517-869220202606221667

Copy DOI

Abstract

ABSTRACT Introduction: Genetic factors appear to explain why some athletes perform better in competition and training than their peers. Objective: To determine the occurrence of R577X polymorphism of the ACTN3 gene in mountain runners. Methods: The sample consisted of 19 female mountain runners with a mean age of 41.2 ± 6.1 years. Genotyping of R577X polymorphism of the ACTN3 gene was performed by the polymerase chain reaction (PCR) method with DNA extracted from saliva. The genotypic and allelic frequencies of the athletes were evaluated and compared with data from the literature. Hardy-Weinberg equilibrium and Chi-square with Yates correction were used, with a significance level of p<0.05. Results: The genotypic distributions did not show any significant differences between the athletes and the control group, with RR = 15.8%, RX = 57.9%, XX = 26.3%. In regard to allelic distribution, the nonfunctional allele was higher in the study group than in the control group, with R = 44.7%, X = 55.3% for p = 0.0350. Conclusion: The data revealed a possible relationship between the ACTN3 X allele and athletic performance in Brazilian female mountain runners. Level of evidence II; Development of diagnostic criteria in consecutive patients (with “gold” reference standard applied).

Highlights

Genetic factors appear to explain why some athletes perform better in competition and training than their peers
Genotyping of R577X polymorphism of the actinin 3 gene (ACTN3) gene was performed by the polymerase chain reaction (PCR) method with DNA extracted from saliva
Our research aims at better understanding the interaction of ACTN3 R577X polymorphism with the physical performance of female mountain runners in Brazil, since such genetic variation can improve their physical fitness

Summary

Introduction

Genetic factors appear to explain why some athletes perform better in competition and training than their peers. The study of genetic polymorphisms can be a prognosis of physical performance.[4] when dealing with studies that consider ethnicity and race of the population studied, we must remember that the phenotypic effects of some polymorphisms may be expressed in multiple ways in different communities.[3] For Ahmetov et al.[1] and Yang et al.[5], genetic polymorphisms associated with sportive success are those that bring benefits, especially related to endurance, sprint and muscle power In this sense, we highlight R577X polymorphism of the alpha-actinin 3 gene (ACTN3), investigated here because of its association with activities that require muscle strength, sprint, and endurance.[6,7]

Objectives

Methods

Results

Discussion

Conclusion