Total genotype score and athletic status: An exploratory cross-sectional study of a Brazilian athlete cohort.

The purpose of the present study was to explore the ability of the total genotype score (TGS) for evaluation of the polygenic profile of elite athletes. Data from a Brazilian athlete cohort were used in this study, which included 368 athletes and 818 nonathletes. The TGS targeted to power athletes was computed using from two to 10 associated polymorphisms. In all models, the power group showed a higher TGS mean compared to the nonathlete group. In particular, scores using more associated polymorphisms showed stronger differences (P < 0.0001). Moreover, the more polymorphisms included in the score, the greater its discriminatory power. The frequency distribution of individuals according to the TGS computed using 10 associated polymorphisms showed that both the power group and the replication group were overrepresented in scores ≥60.0 (P < 0.0075). Individuals with a score ≥60.0 had an increased odds ratio (OR) of being an elite athlete compared to the nonathlete group (OR > 2.03; P < 0.006), although there were athletes with TGS values ranging from 15.0 to 90.0. By setting 60.0 as the cutoff point, the sensitivity and specificity of the TGS was approximately 30% and 82.5%, respectively. In conclusion, the TGS computed using 10 associated polymorphisms proved to be effective in discriminating the target athlete group, but with limited accuracy as evidenced by its sensitivity rate.