Polygenic profile of brazilian athletes: distribution of polymorphisms associated with physical performance

Author(s)

João Paulo Limongi França Guilherme

• Document type: Doctoral Thesis
• Press: São Paulo.
• Institution: Universidade de São Paulo (USP). Escola de Educação Física e Esportes (EEFE/BT)
• Defense date: 2017-01-24

Examining board members

Antonio Herbert Lancha Junior; Rômulo Cássio de Moraes Bertuzzi; Emerson Franchini

• Advisor: Antonio Herbert Lancha Junior

Abstract

After the conclusion of the human genome project, information about the genetic code of an individual (reference) was provided. Since then, scientists directed their research to identify polymorphic sites in genomic and mitochondrial DNA able to be associated with relevant phenotypes. In sports, the search has been directed to identify genetic markers associated with performance-related phenotypes (endurance vs. muscle strength and power phenotypes). Currently, many polymorphisms have been associated with physical performance in at least one study. However, as the sport performance is a polygenic phenomenon (i.e., under the regulation of several genes), the association of a single polymorphism is insufficient to characterize the athlete biology. Hypotheses are being developed in an attempt to identify the athlete polygenic profile (i.e., the combination of several sports-relevant polymorphisms). Some researchers evaluated a preliminary polygenic profile of European athletes by analyzing a range from 7 to 10 polymorphisms; however, these findings need to be investigated in other populations. The objective of this project was to explore the polygenic profile of Brazilian athletes. A Brazilian cohort involving 342 endurance athletes, 308 strength and power athletes, 93 athletes from team sports, 165 combat sports athletes and 967 non-athletes was evaluated. Genomic DNA of these individuals was extracted and 34 polymorphisms were genotyped. In general, the Endurance group was very similar to the Non-athlete group. The main associations were found when comparing the Strength/Power group with the Non-athlete group. Seven genetic markers were highlighted in the Strength/Power group. It was found that the following polymorphisms AGT M235T - Allele G, ACTN3 R577X - Allele R, MCT1 D490E - Allele T, PPARGC1A G482S - Allele C, VEGFR2 Q472H - Allele T, CNDP2 C/G - Allele G e PPARA G/C - Allele C can be considered genetic markers for Brazilian strength and power athletes. Of the seven genetic markers associated with Strength/Power, two were previously associated in other cohorts to Endurance, suggesting that the Brazilian population may have different and specific associations. The Total Genotype Score (TGS; additive model) using the seven most relevant polymorphisms was efficient to discriminate the Strength/Power group. It was observed that having a quantity >= 9 alleles associated (score >= 64.3) significantly increased the chance (76.8%) of belong to the Strength/Power group. However, there are some athletes of the Strength/Power group (international-level) showing a low number of associated alleles (2 to 4 associated alleles), as well as Endurance athletes showing a high number of associated alleles (10 to 12 associated alleles). A high number of associated alleles may be advantageous to the athlete; however they need to be properly stimulated by environmental factors. Any genotype-phenotype association does not indicate that an individual can anticipate a successful career. The athletic performance reflects a complex interaction of genetic and environmental / social factors (AU)

• FAPESP's process: 12/22516-6 - Polygenic profile of Brazilian athletes: distribution of polymorphisms associated with physical performance
• Grantee: João Paulo Limongi França Guilherme
• Support Opportunities: Scholarships in Brazil - Doctorate