Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes

Autor(es)

Limongi Franca Guilherme, Joao Paulo ^[1] ; Bertuzzi, Romulo ^[2] ; Lima-Silva, Adriano Eduardo ^[3] ; Pereira, Alexandre da Costa ^[4] ; Lancha Junior, Antonio Herbert ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Phys Educ & Sport, Lab Appl Nutr & Metab, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo, Sch Phys Educ & Sport, Endurance Performance Res Grp, Sao Paulo, SP - Brazil

^[3] Technol Fed Univ Parana, Human Performance Res Grp, Curitiba, PR - Brazil

^[4] Univ Sao Paulo, Sch Med, Inst Heart, Lab Genet & Mol Cardiol, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ANNALS OF HUMAN GENETICS; v. 82, n. 5, p. 254-264, SEP 2018.
• Citações Web of Science: 7

Resumo

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). (AU)

• Processo FAPESP: 12/22516-6 - Perfil poligênico de atletas brasileiros: distribuição de polimorfismos associados ao desempenho físico
• Beneficiário: João Paulo Limongi França Guilherme
• Modalidade de apoio: Bolsas no Brasil - Doutorado