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

Hassane Zouhal, Juan Del Coso, Ayyappan Jayavel, Claire Tourny, Guillaume Ravé, Nidhal Jebabli, Cain C T Clark, Benjamin Barthélémy, Anthony C Hackney, Abderraouf Ben Abderrahman

    Research output: Contribution to journalReview articlepeer-review

    6 Citations (Scopus)
    66 Downloads (Pure)


    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 studies involved only women, 5 studies involved only men, and 6 studies involved both men and women. All the studies included were classified as high-quality studies (≥6 points in the Physiotherapy Evidence Database (PEDro) scale score). 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: two with non-contact ankle injury, three with non-contact muscle injury, and one 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.

    Original languageEnglish
    Pages (from-to)359-368
    Number of pages10
    JournalJournal of Sport and Health Science
    Issue number3
    Early online date17 Jul 2021
    Publication statusE-pub ahead of print - 17 Jul 2021

    Bibliographical note

    2023 Published by Elsevier B.V. on behalf of Shanghai University of Sport. This is an open access article under the CC BY-NC-ND license.


    • Athletic performance
    • Exercise-related injury
    • Muscle injury
    • Single nucleotide polymorphism
    • α-actinin-3 deficiency

    ASJC Scopus subject areas

    • Orthopedics and Sports Medicine
    • Physical Therapy, Sports Therapy and Rehabilitation


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