The effect of the ACTN3 gene variation on physically active individuals' susceptibility to muscle injury

Agata Leońska-Duniec, Faculty of Physical Education, Gdansk University of Physical Education and SportFollow
Piotr Kabelis, Faculty of Physical Education, Gdansk University of Physical Education and SportFollow
Agata Rzeszutko-Bełzowska, Faculty of Physical Culture Sciences, University of RzeszowFollow

Abstract

Background: The R577X polymorphism (rs1815739) in the ACTN3 gene, which encodes α-actinin-3, results in deficiency of the functional protein in the muscles of the XX carriers, what could potentially impair muscle fiber function and increase susceptibility to injuries. Thus, this study aimed to assess the relationship between the ACTN3 R577X polymorphism and non-contact muscle injury risk in a physically active Caucasians cohort. Mate-rials and Methods: The study included 142 physically active individuals (26 females and 116 males) who experienced either single (n = 26) or multiple (n = 116) non-contact muscle injuries. The control group included 163 participants (47 females and 86 males) with a comparable level of physical activity who had not sustained such injuries. Genetic analyses were conducted using TaqMan real-time polymerase chain reaction (real-time PCR). Results: Although the association between the study and control status was assessed using various genetic models (i.e., codominant, dominant, recessive, over dominant, and log-additive), there were no significant associations (p = 0.927). Additionally, no statistically significant differences were found when analyzing genotype frequencies concerning single and multiple injuries compared to the control group (p = 0.469, p = 0.862, respectively). Conclusions: We were unable to confirm the association between the ACTN3 R577X polymorphism and predisposition to muscle injuries in physically active Caucasians; how-ever, more replication studies are needed to confirm these findings.

Recommended Citation

Leonska-Duniec A, Kabelis P, Rzeszutko-Belzowska A. The effect of the ACTN3 gene variation on physi-cally active individuals' susceptibility to muscle injury. Balt J Health Phys Act. 2025;17(3):Article9. DOI: 10.29359/BJHPA.17.3.09