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Association of the ACTN3 Genotype with Muscle Function: A Systematic Review and Meta-analysis.

Mika Kamiya-Saito1, Hirofumi Zempo2, Kathleen Yasmin de Almeida3

  • 1Research Institute for Sport Science, Nippon Sport Science University, Tokyo, Japan.

International Journal of Sports Medicine
|February 25, 2026
PubMed
Summary
This summary is machine-generated.

The ACTN3 R577X gene variant is linked to muscle strength and power. Individuals with RR, RX, and XX genotypes showed higher one-repetition maximum, maximum voluntary contraction, and jump performance.

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Area of Science:

  • Genetics and Sports Science
  • Human Physiology
  • Molecular Biology

Background:

  • The ACTN3 gene R577X polymorphism influences α-actinin-3 expression, a protein crucial for muscle function.
  • Previous research suggests a link between ACTN3 genotype and athletic performance, particularly in strength and power.

Purpose of the Study:

  • To systematically review and meta-analyze the association between the ACTN3 R577X polymorphism and muscle strength and power indicators.
  • To clarify the genetic basis of muscle performance variations.

Main Methods:

  • Systematic literature search of PubMed and Web of Science up to October 15, 2025.
  • Inclusion criteria: English publications, healthy participants, assessed muscle function, and ACTN3 R577X genotype analysis.
  • Meta-analysis of 53 articles examining outcomes like one-repetition maximum, jump performance, and maximum voluntary contraction.

Main Results:

  • A significant association was found between the ACTN3 R577X polymorphism and one-repetition maximum, maximum voluntary contraction, and jump performance in the additive model.
  • Higher performance in these metrics was observed for RR, RX, and XX genotypes (p < 0.01).
  • No significant associations were identified for other tested muscle function measurements.

Conclusions:

  • The ACTN3 R577X polymorphism is associated with key measures of muscle strength and power, specifically one-repetition maximum, maximum voluntary contraction, and jump performance.
  • The genetic influence on these performance indicators may be more pronounced in males.
  • This finding contributes to understanding the genetic underpinnings of athletic potential.