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

Erinija Pranckeviciene,Valentina Gineviciene,Audrone Jakaitiene,Laimonas Januska,Algirdas Utkus

doi:10.3390/genes12071067

Abstract

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.

Highlights

Elite athletic status is a polygenic trait with multiple candidate gene variants playing a certain role, either alone or through complex, gene–gene and gene–environment interactions
Using synthetic data of 23 genetic markers of endurance excellence aggregated into the total genotype score (TGS) score they calculated “that there is just a 0.0005% (1 in 200,000) probability that even a single individual exists in the world possessing the optimal DNA variant for endurance performance of all 23 polymorphisms” [7]
If scores of the genotypes in the TGS model are computed from the original athletes genotype dataset, the total genotype score TGS stratifies athletes into their respective sport categories more accurately compared to the TGS constructed by the original method of Williams and Folland

Summary

Introduction

Elite athletic status is a polygenic trait with multiple candidate gene variants playing a certain role, either alone or through complex, gene–gene and gene–environment interactions. With the rapid development of molecular research in sport, multiple genetic markers associated with endurance and power physical performance have been discovered [1,2,3]. The most studied polymorphisms ACE (rs1799752) and ACTN3 (rs1815739) have been associated with both: power and endurance athletic performance in multiple studies [4,5,6]. A simple additive model, expressing an integrative effect of multiple markers on a trait, is a total genotype score (TGS). It has been introduced by Williams and Folland [7] and is known as a genetic predisposition score. The TGS has been a subject of numerous studies used to model and predict the integrative effect of the DNA markers on the athletic traits [8,9,10,11,12]

Methods

Discussion

Conclusion