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 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.

中文翻译：

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哥伦比亚青年运动员 ACTN3 R577X 和 ACE I/D 多态性的评估：一项探索性研究

有些基因序列可能与提高运动成绩有关，例如 α-actinin-3 (ACTN3) R577X 多态性和血管紧张素转换酶 (ACE) 插入/缺失 (I/D)，它们与分别增加肌肉力量和耐力。这项基于 STREGA 的横断面研究比较了哥伦比亚运动员（n = 37）和非运动对照（n = 37）之间 ACTN3 R577X 和 ACE I/D 多态性的基因型和等位基因频率。使用聚合酶链反应 (PCR) 和随后的酶促限制 (RFLP) 进行基因分型。对照组和运动组的 ACTN3 R577X 基因型分布符合 Hardy-Weinberg Equilibrium (HWE)（所有 p > .05）；然而，在经过力量训练的运动员中，ACE I/D 基因型在 HWE 中没有发现。在运动人群中，ACTN3 R577X (n = 37) 的基因型分布和等位基因频率为 RR：35.1% (n = 13)，RX：54.1% (n = 20)，XX：10.8% (n = 4)，和R：分别为 0.6216 和 X：0.3784。对于 ACE I/D (n = 74)，发现 DD 的基因型分布：35.1% (n = 13)、ID：24.3% (n = 9)、II：40.5% (n = 15) 和等位基因频率D：62.16% 和 I：37.84%。统计分析显示 ACE 基因型与力量、耐力和对照组之间存在关联（X 2 = 15.3，gl = 4，p = .004）；然而，ACTN3 R577X 多态性没有显着关联（X 2 = 3.99，gl = 4，p = .408）。尽管需要更均匀和更大样本量的研究，