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

There are genetic sequences that might be associated with improved athletic performance, such as the alpha-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 cross-sectional 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.