GWAS shows links between EDARADD and LRFN5 and performance in professional athletes
Year: 2025
Type: article
Study design: Observational Study
Abstract: 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.
Authors: 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
Institutions: Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical and Biological Agency, Federal Medical-Biological Agency, Ministry of Health of the Russian Federation, North-Western State Medical University named after I.I. Mechnikov, National Center for Sports Medicine of the Federal Medical and Biological Agency of Russia
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,890
OpenAlex ID: W4416985398