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.
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