Prevalence of ACE I/D and ACTN3 R577X genetic polymorphisms in Taekwondo athletes

Goulart, Cassia Conceição and Scheer, Alice Kunzgen and Silva, Clédia S. F. and Atrib, Amanda Barbosa and Schneider, Augusto and Schadock, Ines and Araujo, Ronaldo C. and Del Vecchio, Fabricio Boscolo and Barros, Carlos Castilho (2025) Prevalence of ACE I/D and ACTN3 R577X genetic polymorphisms in Taekwondo athletes. PHYSIOLOGY INTERNATIONAL, 112 (3). pp. 380-391. ISSN 2498-602X

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Abstract

Background: Among genetic variants associated with physical performance, ACTN3 R577X and ACE I/D are among the most studied. However, their prevalence and functional significance in combat sports like Taekwondo remain underexplored. Objective: To evaluate the prevalence of ACTN3 R577X and ACE I/D polymorphisms in Taekwondo athletes and controls, and to investigate their association with competitive level and belt ranking. Methods: A total of 204 individuals (119 athletes and 85 controls) were genotyped via PCR using DNA from buccal cells. Genotype distributions were analyzed for Hardy-Weinberg equilibrium (HWE). Associations with performance level and belt ranking were tested. A “two loci profile” variable was created by combining genotypes into power-, endurance-, or mixed-oriented categories. Results: ACE I/D genotypes in athletes deviated from HWE due to a higher prevalence of the DD genotype (32.2%, P 5 0.017). In contrast, controls were in HWE for ACE but not for ACTN3. The DD genotype was more common among national-level competitors and black belts. The ACTN3 RR genotype also showed higher frequency among black belts but without statistical significance. When combining ACE DD and/or ACTN3 RR genotypes, black belts showed significantly greater prevalence than other ranks (37.5% vs. 14.3%, P 5 0.038). Conclusion: Genotypes related to strength and power appear more frequent among higherperforming Taekwondo athletes. These results contribute to the understanding of a synergetic action of two loci in combat sports and may support future applications in personalized training and talent identification.

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