Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes

Total genotype score (TGS) reflects additive effect of genotypes on predicting a complex trait such as athletic performance. Scores assigned to genotypes in the TGS should represent an extent of the genotype’s predisposition to the trait. Then, combination of genotypes highly ranks those individuals, who have a trait expressed. Usually, the genotypes are scored by the evidence of a genotype–phenotype relationship published in scientific studies. The scores can be revised computationally using genotype data of athletes, if available. From the available genotype data of 180 Lithuanian elite athletes we created an endurance-mixed-power performance TGS profile based on known ACE rs1799752, ACTN3 rs1815739, and AMPD1 rs17602729, and an emerging MB rs7293 gene markers. We analysed an ability of this TGS profile to stratify athletes according to the sport category that they practice. Logistic regression classifiers were trained to compute the genotype scores that represented the endurance versus power traits in the group of analysed athletes more accurately. We observed differences in TGS distributions in female and male group of athletes. The genotypes with possibly different effects on the athletic performance traits in females and males were described. Our data-driven analysis and TGS modelling tools are freely available to practitioners.