Genes, Vol. 16, Pages 1040: Effect Size and Replicability in Genetic Studies of Athletic Performance: A Meta-Analytical Review

Genes doi: 10.3390/genes16091040

Authors:
Kinga Wiktoria Łosińska
Paweł Cięszczyk
Giovanna Ghiani
Adam Maszczyk

Background/Objectives: This meta-analytical review assesses the relationship between effect size and replication success in genetic studies of athletic performance, focusing on the ACTN3 and ACE polymorphisms across power- and endurance-based sports. The analysis revealed substantial heterogeneity in reported effect sizes (overall I2 = 72.3%), indicating considerable variability between studies, likely influenced by differences in population genetics, study design, and sample size. Methods: For ACTN3, the pooled effect sizes were 1.40 (95% CI: 1.18–1.65) for power sports and 1.35 (95% CI: 1.12–1.58) for endurance sports. Although the difference between these estimates is small, it reached statistical significance (p = 0.0237), reflecting the large sample size, but it remains of limited practical and clinical significance. For the ACE polymorphism, effect sizes were similar in both endurance (ES = 1.22, 95% CI: 1.05–1.41) and power sports (ES = 1.20, 95% CI: 1.03–1.43), with overlapping confidence intervals, indicating no meaningful difference in association strength between sport types. Effect sizes were calculated as odds ratios (OR) with 95% confidence intervals for case–control designs, with standardized conversion protocols applied for alternative study designs reporting standardized mean differences or regression coefficients. Results: Publication bias was detected, particularly in smaller studies on ACTN3 and power sports (Egger’s test p = 0.007). The pooled effect of ACTN3 in power sports (OR 1.40, 95% CI: 1.18–1.65, 95% PI: 0.89–2.20) was adjusted to OR 1.32 (95% CI: 1.15–1.51) following trim-and-fill publication bias correction. The high degree of heterogeneity (I2 = 72.3%) cautions against overgeneralization of the pooled results and highlights the need for careful interpretation, robust replication studies, and standardized methodologies. Conclusions: The findings emphasize that, while genetic markers such as ACTN3 and ACE are statistically associated with athletic performance, the magnitude of these associations is modest and should be interpreted conservatively. Methodological differences and publication bias continue to limit the reliability of the evidence. Future research should prioritize large, well-powered, and methodologically consistent studies—ideally genome-wide approaches—to better account for the polygenic and multifactorial nature of elite athletic ability.

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