BMC sports science, medicine & rehabilitation · 2025
GWAS shows links between EDARADD and LRFN5 and performance in professional athletes.
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Terekhov M V, Deev R V, Kadykova A I, Dzhumaniiazova I H, Mamchur A A, Zelenova E A, Matkava L R, Ivanov M V, Kashtanova D A, Mitrofanov S I, Golubnikova L A, Nekrasova A I, Kalashnikova I G, Ivashechkin A A, Maksyutina V V, Varlamova O V, Yudin V S, Keskinov A A, Zholinsky A V, Kraevoy S A, Yudin S M, Skvortsova V I
Аннотация
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.
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.