Background: The influence of genetic polymorphisms on athletic performance has been widely explored. This study investigated the interactions between the polymorphisms ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M/T) and their association with endurance and strength phenotypes in Brazilian swimmers. Methods: 123 athletes (aged 20–30 years) and 718 controls participated in the study. The athletes were divided into elite and sub-elite (N = 19 and 104, respectively) and strength and endurance experts (N = 98 and 25, respectively). Hardy-Weinberg equilibrium was observed in all groups. Results: Considering the ACE polymorphism, it was observed a higher frequency of the DD genotype than expected in the strength experts of the elite group, whereas the strength experts sub-elite athletes had a higher frequency of the ID genotype (χ2 = 8.17; p = 0.01). Subjects with XX genotypes of ACTN3 are more likely to belong to the athlete group when compared to the control group (OR = 1.79, p = 0.04). The DD homozygotes of the ACE are more likely to belong to the elite group with strength phenotypes than the group of sub-elite (OR = 7.96, p = 0.01) and elite strength experts compared to elite endurance (OR = 18.0, p = 0.03). However, no significant differences were observed in the allelic distribution of the polymorphisms evaluated when comparing Elite, sub-elite athletes and controls. Conclusion: ACE and ACTN3 allele frequencies should be considered with regard to performance influencing factors in Brazilian swimmers.
CITATION STYLE
de Albuquerque-Neto, S. L., Santos, M. A. P. dos, Silvino, V. O., Herrera, J. J. B., Rosa, T. S., Silva, G. C. B., … de Melo, G. F. (2024). Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers. BMC Sports Science, Medicine and Rehabilitation, 16(1). https://doi.org/10.1186/s13102-024-00828-2
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