Analysis of the ECA and ACTN3 genes in Colombian youth athletes and their association with ethnicity

Authors

  • Pedro Felipe Velandia Cabrera Universidad Pablo de Olavide. Spain , Fundación universitaria del Área Andina. Colombia Autor/a https://orcid.org/0000-0002-3620-2347
  • Eduardo Sáez De Villarreal Sáez Universidad Pablo de Olavide. Spain Autor/a
  • Francisco Javier Pinzón Guevara Fundación universitaria del Área Andina. Colombia Autor/a
  • Luis Alberto Cardozo Universidad Pablo de Olavide. Spain , Fundación universitaria del Área Andina. Colombia Autor/a

DOI:

https://doi.org/10.55040/r1ff9j14

Keywords:

actinin, angiotensin, athletic performance, genotype, gene polymorphism

Abstract

The diversity of ethnic groups in Colombia may highlight differences in specific genetic markers associated with sport. Objective: To analyze the profile, association, and genotypic and allelic frequency of the angiotensin-converting enzyme (ACE) I/D polymorphisms and the alpha-actinin 3 R577X (ACTN3) R/X polymorphism in youth athletes from different ethnicities in Colombia. Methodology: Sixty-four high-performance youth athletes and 27 control subjects were recruited. DNA was extracted from oral epithelial cells, and genotypes were identified by PCR and electrophoresis. Allelic frequencies were calculated using Hardy-Weinberg equilibrium (χ² test, p < 0.05). Results: Significant differences were found in the genotypic distribution between athletes and controls. For the ACE gene, the DD genotype was more frequent (52% vs. 22% in controls, p=0.003, OR=0.33, 95% CI 0.13-0.84). When divided among ethnic populations, the Pijao group showed a statistically significant higher prevalence of the DD genotype (43% vs. 7%, OR=0.095, p=0.014, 95% CI: 0.01-1.68). On the other hand, no significant differences were found for the ACTN3 gene; the RX genotype was the most frequent (62% vs. 63% in the control group, p=0.98), while the RR genotype was present in 28% of athletes. These results indicate that the DD genotype is more frequent in the mixed-race population of Pijao indigenous and Caucasian descent

Author Biographies

  • Eduardo Sáez De Villarreal Sáez, Universidad Pablo de Olavide. Spain

    Docente titular e investigador de la Universidad Pablo de Olavide

  • Francisco Javier Pinzón Guevara, Fundación universitaria del Área Andina. Colombia

    Docente tiempo completo de la universidad Área Andina, entrenador de pesas e investigador en el área de fuerza

  • Luis Alberto Cardozo, Universidad Pablo de Olavide. Spain, Fundación universitaria del Área Andina. Colombia

    Docente tiempo completo de la universidad Área Andina, investigador en ciencias del deporte 

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2026-07-01

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