Evaluation of ACTN3 R577X and ACE I/D polymorphisms in young Colombian athletes: An exploratory research

Abstract

There are genetic sequences that might be associated with improved athletic performance, such as the α-actinin-3 (ACTN3) R577X polymorphism and the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), which are related to phenotypes of increased muscle strength and endurance, respectively. This STREGA-based crosssectional study compared the genotype and allele frequencies of the ACTN3 R577X and ACE I/D polymorphisms between Colombian athletes (n = 37) and non-athletic controls (n = 37). Genotyping was performed using polymerase chain reaction (PCR) and subsequent enzymatic restriction (RFLP). The distribution of the ACTN3 R577X genotype of control and athletic groups met Hardy-Weinberg Equilibrium (HWE) (all p > .05); however, in the strength-trained athletes, the distribution of the ACE I/D genotype was not found in HWE. In athletic population, genotype distribution and allele frequencies of the ACTN3 R577X (n = 37) was RR: 35.1% (n = 13), RX: 54.1% (n = 20), XX: 10.8% (n = 4), and R: 0.6216 and X: 0.3784, respectively. For ACE I/D (n = 74) it was found a genotype distribution of DD: 35.1% (n = 13), ID: 24.3% (n = 9), II: 40.5% (n = 15), and allelic frequencies of D: 62.16% and I: 37.84%. Statistical analysis showed an association between the ACE genotypes with strength, endurance and control groups (X 2 = 15.3, gl = 4, p = .004); however, the ACTN3 R577X polymorphism did not have a significant association (X 2 = 3.99, gl = 4, p = .408). Although studies with a more homogeneous and larger sample size are required, the results of this exploratory study contribute to the genotypic characterization of Colombian athletes with the objective of improving the methodologies and its applications to sports medicine.

ACE and ACTN3 Gene Polymorphisms and Genetic Traits of Rowing Athletes in the Northern Han Chinese Population

“…α-Actinin-3 is encoded by the ACTN3 gene, and its expression in glycolytic skeletal muscle contributes to enhancing muscle function and coordinating fast-twitch muscles ( Yang et al, 2003 ). Ortiz et al (2022) reported that Colombian athletes carrying the RX genotype might express more ACTN3 protein that is involved in the optimization of muscle contraction in fast-twitch fiber. The frequency of the RR genotype was revealed to be higher in male skiers than in the control group, but male skiers with the XX genotype evidently had an increased VO 2 peak within 5 years ( Magi et al, 2016 ).…”