Association between ACTN3 R577X genotype and risk of non-contact injury in trained athletes: A systematic review

Hassane Zouhal (1) , Juan Del Coso (2) , Ayyappan Jayavel (3) , Claire Tourny (4) , Guillaume Ravé (5) , Nidhal Jebabli (6, 7) , Cain C T Clark (8) , Benjamin Barthélémy (5) , Anthony C Hackney (9) , Abderraouf Ben Abderrahman (6, 7)

1 M2S - Laboratoire Mouvement Sport Santé
2 URJC - Universidad Rey Juan Carlos [Madrid]
3 SRM - SRM Institute of Science and Technology
4 CETAPS - Centre d’études des transformations des activités physiques et sportives
5 Toulouse Football Club
6 ISSEP Ksar Saïd
7 UMA - Université de la Manouba [Tunisie]
8 Coventry University
9 UNC - University of North Carolina [Chapel Hill]

BACKGROUND: The aim of this study was to review, systematically, evidence concerning the link between the ACTN3 R577X polymorphism and the rates and severity of non-contact injuries and exercise-induced muscle damage in athletes and individuals enrolled in exercise training programs. METHODS: A computerized literature search was performed in the electronic databases PubMed, Web of Science, and SPORTDiscus, from inception until November 2020. All included studies compared the epidemiological characteristics of non-contact injury between the different genotypes of the ACTN3 R577X polymorphism. RESULTS: Our search identified 492 records. After the screening of titles, abstracts, and full texts, 13 studies examining the association between the ACTN3 genotypes and the rate and severity of non-contact injury were included in the analysis. These studies were performed in 6 different countries (Spain, Japan, Brazil, China, Republic of Korea, and Italy) and involved a total participant pool of 1093 participants. Of the studies, 2 involved only women, 5 involved only men, and 6 involved both men and women. All the studies included were classified as high-quality studies (≥6 points on the Physiotherapy Evidence Database [PEDro] scale). Overall, evidence suggests there is an association between the ACTN3 R577X genotype and non-contact injury in 12 investigations. Six studies observed a significant association between ACTN3 R577X polymorphism and exercise induced muscle damage: 2 with non-contact ankle injury, 3 with non-contact muscle injury, and 1 with overall non-contact injury. CONCLUSION: The present findings support the premise that possessing the ACTN3 XX genotype may predispose athletes to a higher probability of some non-contact injuries, such as muscle injury, ankle sprains, and higher levels of exercise-induced muscle damage.

Mots clés: Athletic performance; Exercise-related injury; Muscle injury; Single nucleotide polymorphism; α-actinin-3 deficiency

Domaines: Sciences du Vivant [q-bio]

Hassane Zouhal, Juan Del Coso, Ayyappan Jayavel, Claire Tourny, Guillaume Ravé, et al.. Association between ACTN3 R577X genotype and risk of non-contact injury in trained athletes: A systematic review. Journal of Sport and Health Science, 2023, 12 (3), pp.359-368. ⟨10.1016/j.jshs.2021.07.003⟩. ⟨hal-03334082⟩