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Background <p>Research into genetic markers associated with sports performance and aerobic capacity has been gaining momentum. However, despite the discovery of numerous molecular and genetic markers, there is still a gap in understanding the variations in athletes’ trainability and maximum oxygen consumption levels (VO₂ max). The purpose of this study was to examine molecular and genetic markers associated with athletic performance and build linear models to evaluate the contributions of phenotype and genotype to VO₂ max levels in professional athletes.</p> Methods <p>A group of 1,115 athletes from Russian national sports teams in various sports disciplines underwent a comprehensive physical examination under standardized conditions. A genome-wide association study was conducted to discover variants associated with athletic performance, and linear models were built to calculate VO₂ max per one kilogram of body weight.</p> Results <p>The current study examined both phenotype and genotype. The genome-wide association study revealed significant variations in the intergenic region of <i>EDARADD</i> (rs7534875) and in a non-coding region of <i>LRFN5</i>. The model integrating phenotype and genotype contributions (the most significant single nucleotide variants from the genome-wide association study) demonstrated the best accuracy metrics (coefficient of determination = 0.4852; mean absolute error = 5.3177; mean squared error = 45.7350).</p> Conclusion <p>New variants associated with VO₂ max in professional athletes were found in <i>EDARADD</i> and <i>LRFN5</i>. The predictive VO₂ max model integrating genotype and phenotype data showed the best performance characteristics and the highest accuracy metrics.</p>

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GWAS shows links between EDARADD and LRFN5 and performance in professional athletes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月4日

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  • M. V. Terekhov,
  • R. V. Deev,
  • A. I. Kadykova,
  • I. H. Dzhumaniiazova,
  • A. A. Mamchur,
  • E. A. Zelenova,
  • L. R. Matkava,
  • M. V. Ivanov,
  • D. A. Kashtanova,
  • S. I. Mitrofanov,
  • L. A. Golubnikova,
  • A. I. Nekrasova,
  • I. G. Kalashnikova,
  • A. A. Ivashechkin,
  • V. V. Maksyutina,
  • O. V. Varlamova,
  • V. S. Yudin,
  • A. A. Keskinov,
  • A. V. Zholinsky,
  • S. A. Kraevoy,
  • S. M. Yudin,
  • V. I. Skvortsova

摘要

Background

Research into genetic markers associated with sports performance and aerobic capacity has been gaining momentum. However, despite the discovery of numerous molecular and genetic markers, there is still a gap in understanding the variations in athletes’ trainability and maximum oxygen consumption levels (VO₂ max). The purpose of this study was to examine molecular and genetic markers associated with athletic performance and build linear models to evaluate the contributions of phenotype and genotype to VO₂ max levels in professional athletes.

Methods

A group of 1,115 athletes from Russian national sports teams in various sports disciplines underwent a comprehensive physical examination under standardized conditions. A genome-wide association study was conducted to discover variants associated with athletic performance, and linear models were built to calculate VO₂ max per one kilogram of body weight.

Results

The current study examined both phenotype and genotype. The genome-wide association study revealed significant variations in the intergenic region of EDARADD (rs7534875) and in a non-coding region of LRFN5. The model integrating phenotype and genotype contributions (the most significant single nucleotide variants from the genome-wide association study) demonstrated the best accuracy metrics (coefficient of determination = 0.4852; mean absolute error = 5.3177; mean squared error = 45.7350).

Conclusion

New variants associated with VO₂ max in professional athletes were found in EDARADD and LRFN5. The predictive VO₂ max model integrating genotype and phenotype data showed the best performance characteristics and the highest accuracy metrics.