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.

中文翻译：

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总基因型评分和运动状态：对巴西运动员队列的探索性横断面研究

本研究的目的是探索总基因型评分 (TGS) 评估优秀运动员多基因特征的能力。本研究使用了来自巴西运动员队列的数据，其中包括 368 名运动员和 818 名非运动员。使用 2 到 10 个相关多态性计算针对力量运动员的 TGS。在所有模型中，与非运动员组相比，力量组显示出更高的 TGS 平均值。特别是，使用更多相关多态性的分数显示出更大的差异（P < 0.0001）。而且，得分中包含的多态性越多，其判别力就越大。根据使用 10 个相关多态性计算得出的 TGS 的个体频率分布显示，功率组和复制组的得分均超过 60.0（P < 0. 0075）。与非运动员组相比，得分 ≥ 60.0 的个体成为精英运动员的比值比 (OR) 增加（OR > 2.03；P < 0.006），尽管有些运动员的 TGS 值在 15.0 到 90.0 之间。通过将 60.0 设置为截止点，TGS 的灵敏度和特异性分别约为 30% 和 82.5%。总之，使用 10 个相关多态性计算的 TGS 被证明在区分目标运动员组方面是有效的，但其灵敏度有限，这证明了其准确性。TGS 的敏感性和特异性分别约为 30% 和 82.5%。总之，使用 10 个相关多态性计算的 TGS 被证明在区分目标运动员组方面是有效的，但其灵敏度有限，这证明了其准确性。TGS 的敏感性和特异性分别约为 30% 和 82.5%。总之，使用 10 个相关多态性计算的 TGS 被证明在区分目标运动员组方面是有效的，但其灵敏度有限，这证明了其准确性。