Analysis of sports‐relevant polymorphisms in a large Brazilian cohort of top‐level athletes. (30th March 2018)

• Record Type: Journal Article
• Authors: Guilherme, João Paulo Limongi França; Bertuzzi, Rômulo; Lima‐Silva, Adriano Eduardo; Pereira, Alexandre da Costa; Lancha Junior, Antonio Herbert
• Is Part Of: Annals of human genetics. Volume 82:Number 5(2018:Sep.)
• Page Start: 254
• Page End: 264
• Publication Date: 2018-03-30
• Subjects: Athletic Status -- Brazilians -- Genetics -- Polygenic Profile; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12248
• Languages: English
• ISSNs: 0003-4800

Abstract

Abstract: 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).