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Effect Size and Replicability in Genetic Studies of Athletic Performance: A Meta-Analytical Review
Kinga Wiktoria Łosińska1, Paweł Cięszczyk1, Giovanna Ghiani2
1Department of Molecular Biology, Gdansk University of Physical Education and Sport, Kazimierza Górskiego 1, 80-336 Gdansk, Poland.
Genes
|September 27, 2025
Summary
Genetic markers like ACTN3 and ACE show modest associations with athletic performance. Effect sizes vary significantly, and publication bias impacts reliability, necessitating larger, standardized studies for robust findings.
Area of Science:
- Sports Science
- Human Genetics
- Molecular Biology
Background:
- Investigates the relationship between effect size and replication success in genetic studies of athletic performance.
- Focuses on ACTN3 and ACE gene polymorphisms in power- and endurance-based athletes.
- Identifies substantial heterogeneity (I² = 72.3%) in reported effect sizes, suggesting significant variability.
Purpose of the Study:
- To meta-analytically review the association between effect size and replication success for ACTN3 and ACE polymorphisms.
- To assess the influence of sport type (power vs. endurance) on these genetic associations.
- To evaluate the impact of study design and publication bias on the reliability of findings.
Main Methods:
- Meta-analysis of genetic association studies for ACTN3 and ACE polymorphisms.
- Calculation of pooled effect sizes (Odds Ratios) with 95% confidence intervals.
- Application of standardized conversion protocols for diverse study designs and use of trim-and-fill method to correct for publication bias.
Main Results:
- ACTN3 showed statistically significant but modest pooled effect sizes for both power (OR 1.40) and endurance (OR 1.35) sports.
- ACE polymorphism exhibited similar, non-meaningful effect sizes across power (OR 1.20) and endurance (OR 1.22) sports.
- Publication bias was detected in ACTN3 studies, particularly for power sports, with corrected OR of 1.32.
Conclusions:
- ACTN3 and ACE gene polymorphisms are statistically linked to athletic performance, but effect sizes are modest and require conservative interpretation.
- Heterogeneity and publication bias limit the reliability of current evidence.
- Future research should focus on large-scale, methodologically consistent genome-wide studies to address the polygenic nature of athletic ability.
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