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Background <p>Previous research has shown that variants in the <i>AMPD1</i> 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 &gt; 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.</p> Objective <p>This systematic review and meta-analysis aimed to investigate the distribution of CC, CT, and TT genotypes of the <i>AMPD1</i> c.34C &gt; T polymorphism (rs17602729) in endurance and power athletes to assess potential associations between this polymorphism and elite athlete status.</p> Methods <p>Studies investigating genotype distribution in the <i>AMPD1</i> c.34C &gt; 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 <i>AMPD1</i> c.34C &gt; 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 <i>I</i><sup>2</sup> statistics.</p> Results <p>After examining 1229 studies on the distribution of the <i>AMPD1</i> c.34C &gt; 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; <i>p</i> &lt; 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; <i>p</i> &lt; 0.00001) and TT genotypes in endurance athletes versus non-athletic controls (OR 0.43; 95% CI 0.19–0.97; <i>p</i> = 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; <i>p</i> &lt; 0.00001) with a lower frequency of the CT (OR 0.51; 95% CI 0.39–0.65; <i>p</i> &lt; 0.00001) and TT genotypes (OR 0.25; 95% CI 0.09–0.68; <i>p</i> = 0.007) in power athletes compared with controls. Overall, the genotype distribution of the <i>AMPD1</i> c.34C &gt; T polymorphism (rs17602729) was similar in endurance and power athletes (OR between 0.76 and 1.39; <i>p</i> = 0.47–0.72).</p> Conclusion <p>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 <i>AMPD1</i> c.34C &gt; 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 <i>AMPD1</i> genotype distribution between endurance and power athletes.</p>

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Association Between the c.34C > T (rs17602729) Polymorphism of the AMPD1 Gene and the Status of Endurance and Power Athletes: A Systematic Review and Meta-Analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月7日

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  • Jihan Kartibou,
  • El Mokhtar El Ouali,
  • Juan Del Coso,
  • Anthony C. Hackney,
  • Abderrazak Rfaki,
  • Ayoub Saeidi,
  • Rawad El Hage,
  • Urs Granacher,
  • Abdelhalem Mesfioui,
  • Hassane Zouhal

摘要

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.