Background

Previous research has shown that variants in the AMPD1 gene, which encodes the adenosine monophosphate deaminase 1 (AMPD1) protein, may affect energy supply of the muscle and fatigue resistance during high-intensity exercise. A single nucleotide substitution in this gene, specifically a cytosine-to-thymine substitution (c.34C > T; rs17602729), results in a nonsense mutation that causes a deficiency in the AMPD1 protein. Deficiency of the AMPD1 protein due to this polymorphism can influence exercise performance, ultimately affecting the likelihood of reaching the status of elite endurance or power athlete.

Objective

This systematic review and meta-analysis aimed to investigate the distribution of CC, CT, and TT genotypes of the AMPD1 c.34C > T polymorphism (rs17602729) in endurance and power athletes to assess potential associations between this polymorphism and elite athlete status.

Methods

Studies investigating genotype distribution in the AMPD1 c.34C > T (rs17602729) polymorphism in endurance and/or power athletes were searched for in four electronic databases (PubMed, Web of Science, Scopus, Science Direct). The studies were selected and the genotypic and allelic frequencies of the AMPD1 c.34C > T (rs17602729) polymorphism were extracted if data for endurance and/or power athletes were compared with controls (non-athletes). Meta-analyses were computed using fixed or random effects models to calculate odds ratios (OR) with confidence interval (95% CI). Heterogeneity of the meta-analyses was reported using I² statistics.

Results

After examining 1229 studies on the distribution of the AMPD1 c.34C > T (rs17602729) polymorphism in endurance and/or power athletes, 20 studies were considered eligible to be included in our meta-analysis. The studies were conducted in 11 different countries, including 5717 participants. There was a higher frequency of the CC genotype (OR 1.72; 95% CI 1.40–2.12; p < 0.00001) in endurance athletes compared with non-athletic controls with a lower frequency of CT (OR 0.61; 95% CI 0.49–0.75; p < 0.00001) and TT genotypes in endurance athletes versus non-athletic controls (OR 0.43; 95% CI 0.19–0.97; p = 0.04). A higher frequency of the CC genotype was also observed in power athletes compared with controls (OR 2.17; 95% CI 1.69–2.78; p < 0.00001) with a lower frequency of the CT (OR 0.51; 95% CI 0.39–0.65; p < 0.00001) and TT genotypes (OR 0.25; 95% CI 0.09–0.68; p = 0.007) in power athletes compared with controls. Overall, the genotype distribution of the AMPD1 c.34C > T polymorphism (rs17602729) was similar in endurance and power athletes (OR between 0.76 and 1.39; p = 0.47–0.72).

Conclusion

Our findings indicate that the CC genotype was overrepresented in endurance and power athletes compared with controls, suggesting that possessing two copies of the C allele of the AMPD1 c.34C > T (rs17602729) polymorphism may be associated with a 1.72–2.17 times greater likelihood of achieving elite or sub-elite athlete status in disciplines reliant on aerobic and anaerobic metabolic pathways. No statistically significant differences were found in the AMPD1 genotype distribution between endurance and power athletes.

中文翻译：

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AMPD1 基因的 c.34C > T （rs17602729） 多态性与耐力和力量运动员状况之间的关联：系统评价和荟萃分析

 背景

先前的研究表明，编码腺苷一磷酸脱氨酶 1 （AMPD1） 蛋白的 AMPD1 基因的变异可能会影响肌肉的能量供应和高强度运动期间的疲劳抵抗力。该基因中的单个核苷酸替换，特别是胞嘧啶到胸腺嘧啶的替换 （c.34C > T; rs17602729），导致无义突变，导致 AMPD1 蛋白缺陷。由于这种多态性导致的 AMPD1 蛋白缺乏会影响运动表现，最终影响达到精英耐力或力量运动员地位的可能性。

 目的

本系统评价和荟萃分析旨在调查 AMPD1 c.34C > T 多态性 （rs17602729） 的 CC、CT 和 TT 基因型在耐力和力量运动员中的分布，以评估这种多态性与精英运动员状态之间的潜在关联。

 方法

在四个电子数据库 （PubMed、Web of Science、Scopus、Science Direct） 中搜索了调查耐力和/或力量运动员 AMPD1 c.34C > T （rs17602729） 多态性基因型分布的研究。如果将耐力和/或力量运动员的数据与对照组（非运动员）进行比较，则选择研究并提取 AMPD1 c.34C > T （rs17602729） 多态性的基因型和等位基因频率。使用固定或随机效应模型计算荟萃分析，以计算比值比 （OR） 和置信区间 （95% CI）。使用 I² 统计量报告荟萃分析的异质性。

 结果

在检查了 1229 项关于 AMPD1 c.34C > T （rs17602729） 多态性在耐力和/或力量运动员中分布的研究后，20 项研究被认为有资格纳入我们的荟萃分析。这些研究在 11 个不同的国家进行，包括 5717 名参与者。CC 基因型的频率较高 （OR 1.72;95% CI 1.40-2.12;p < 0.00001） 与 CT 频率较低的非运动对照组相比 （OR 0.61;95% CI 0.49–0.75;p < 0.00001） 和耐力运动员与非运动对照的 TT 基因型 （OR 0.43;95% CI 0.19–0.97;p = 0.04）。与对照组相比，在力量运动员中也观察到 CC 基因型的频率更高 （OR 2.17;95% CI 1.69-2.78;p < 0.00001），CT 频率较低 （OR 0.51;95% CI 0.39–0.65;p < 0.00001） 和 TT 基因型 （OR 0.25;95% CI 0.09–0.68;p = 0.007）。总体而言，AMPD1 c.34C > T 多态性 （rs17602729） 的基因型分布在耐力和力量运动员中相似 （OR 在 0.76 和 1.39 之间;p = 0.47–0.72）。

 结论

我们的研究结果表明，与对照组相比，CC 基因型在耐力和力量运动员中代表性过高，这表明拥有 AMPD1 c.34C > T （rs17602729） 多态性的两个 C 等位基因拷贝可能与在依赖于有氧和无氧代谢途径的学科中获得精英或亚精英运动员地位的可能性高 1.72-2.17 倍有关。耐力运动员和力量运动员之间的 AMPD1 基因型分布未发现统计学显着差异。