RESUMO
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.
Assuntos
Atletas/estatística & dados numéricos , Resistência Física/genética , Polimorfismo de Nucleotídeo Único , Adulto , Brasil , Estudos de Casos e Controles , Estudos de Coortes , Estudos Transversais , Feminino , Seguimentos , Frequência do Gene , Genótipo , Humanos , Masculino , Fenótipo , Adulto JovemRESUMO
In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes. Only the AGT M268T minor allele was nominally associated with the endurance status. Conversely, we found that seven polymorphisms are more frequent in power athletes (MCT1 D490E, AGT M268T, PPARG P12A, PGC1A G482S, VEGFR2 Q472H, NOS3 C/T, and ACTN3 R577X). For all of these polymorphisms, power athletes were more likely than nonathletes or endurance athletes to carry the major allele or the homozygous genotype for the major allele. In particular, MCT1 D490E, AGT M268T, NOS3 C/T, and ACTN3 R577X showed stronger associations. Our findings support a role for these variants in the achievement of power athletic status in Brazilians: MCT1 D490E (T allele), AGT M268T (G allele), PPARG (C allele), PGC1A G482S (C allele), VEGFR2 Q472H (T allele), NOS3 C/T (T allele), and ACTN3 R577X (R allele).