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

• Grant number: 12/22516-6
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: March 01, 2013
• End date: January 31, 2017
• Field of knowledge: Health Sciences - Physical Education
• Principal Investigator: Antonio Herbert Lancha Junior
• Grantee: João Paulo Limongi França Guilherme
• Host Institution: Escola de Educação Física e Esporte (EEFE). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

The human genome project revealed that the human genetic code is 99.9% identical between each individual, so there is a variation of 0.1% which can explain differences between individuals. While all humans possess the same genes, have been identified structural variations (polymorphisms) in genes that show associations with phenotypes related to physical performance. Since the sports performance is a polygenic phenomenon, i.e. influenced by several genes, the association of a single polymorphism is insufficient to characterize an athlete. Therefore, there is currently an effort to identify the distribution of various polymorphisms (polygenic profile) existing in elite athletes. Initial studies have already outlined a preliminary polygenic profile of European athletes, which does not imply that other populations will exhibit the same profile. The objective of this project is therefore to draw for the first time a polygenic profile of Brazilian athletes. Eight genes were selected to trace the profile of endurance athletes: ACE, AGT, ACTN3, AMPD1, CNTF, GABPB1, MSTN and PPARGC1A. Likewise, eight genes are used to identify the profile of strength and power athletes: ACE, AGT, ACTN3, ACTVR1B, CNTF, IGF1, MSTN and NOS3. A cohort of non-athletes (controls) will also have their genotype determined for the same genes. All genotypes will be determined by real time PCR. The total genotyping score (TGS), proposed in 2008, will be calculated for each individual. The score was based on the alleles structural existing for each of the genes described above. The distribution and frequency of polymorphisms will be analyzed using contingency tables. The TGS will be expressed as mean ± standard deviation and the results will be compared between groups of athletes and non-athletes through the Kruskal-Wallis test.

Scientific publications

(14)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

GUILHERME, JOAO PAULO L. F.; BOSNYAK, EDIT; SEMENOVA, EKATERINA A.; SZMODIS, MARTA; GRIFF, ANNAMARIA; MORA, AKOS; ALMASI, GABOR; TRAJER, EMESE; UDVARDY, ANNA; KOSTRYUKOVA, ELENA S.; et al. The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake. BIOLOGY OF SPORT, v. 38, n. 3, p. 465-474, 2021. (12/22516-6)

GUILHERME, JOAO PAULO L. F.; BIGLIASSI, MARCELO; LANCHA JUNIOR, ANTONIO H.. Association study of SLC6A2 gene Thr99Ile variant (rs1805065) with athletic status in the Brazilian population. Gene, v. 707, p. 53-57, JUL 30 2019. (18/08898-0, 12/22516-6)

GUILHERME, JOAO PAULO L. F.; EGOROVA, EMILIYA S.; SEMENOVA, EKATERINA A.; KOSTRYUKOVA, ELENA S.; KULEMIN, NICKOLAY A.; BORISOV, OLEG V.; KHABIBOVA, SOFYA A.; LARIN, ANDREY K.; OSPANOVA, ELENA A.; PAVLENKO, ALEXANDER V.; et al. The A-allele of the FTO Gene rs9939609 Polymorphism Is Associated With Decreased Proportion of Slow Oxidative Muscle Fibers and Over-represented in Heavier Athletes. JOURNAL OF STRENGTH AND CONDITIONING RESEARCH, v. 33, n. 3, p. 691-700, MAR 2019. (12/22516-6)

MENDES, SANDRO H.; TRITTO, ALINE C.; GUILHERME, JOAO PAULO L. F.; SOLIS, MARINA Y.; VIEIRA, DOUGLAS E.; FRANCHINI, EMERSON; LANCHA, JR., ANTONIO H.; ARTIOLI, GUILHERME G.. Effect of rapid weight loss on performance in combat sport male athletes: does adaptation to chronic weight cycling play a role?. BRITISH JOURNAL OF SPORTS MEDICINE, v. 47, n. 18, p. 1155+, DEC 2013. (11/17059-2, 12/22516-6)

VOISIN, SARAH; GUILHERME, JOAO PAULO F. L.; YAN, XU; PUSHKAREV, VLADIMIR P.; CIESZCZYK, PAWEL; MASSIDDA, MYOSOTIS; CALO, CARLA M.; DYATLOV, DMITRY A.; KOLUPAEV, VITALIY A.; PUSHKAREVA, YULIYA E.; et al. ACVR1B rs2854464 Is Associated with Sprint/Power Athletic Status in a Large Cohort of Europeans but Not Brazilians. PLoS One, v. 11, n. 6, JUN 2 2016. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; BERTUZZI, ROMULO; LIMA-SILVA, ADRIANO EDUARDO; PEREIRA, ALEXANDRE DA COSTA; LANCHA JUNIOR, ANTONIO HERBERT. Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes. ANNALS OF HUMAN GENETICS, v. 82, n. 5, p. 254-264, SEP 2018. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; SILVA, MARIANA SUSSI; BERTUZZI, ROMULO; LANCHA JUNIOR, ANTONIO HERBERT. The AGTR2 rs11091046 (A > C) polymorphism and power athletic status in top-level Brazilian athletes. JOURNAL OF SPORTS SCIENCES, v. 36, n. 20, p. 2327-2332, 2018. (12/22516-6)

GUILHERME, JOAO PAULO L. F.; SOUZA-JUNIOR, TACITO P.; LANCHA JUNIOR, ANTONIO H.. Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPB1 gene. Physiological Genomics, v. 53, n. 2, p. 47-50, FEB 2021. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; LANCHA, ANTONIO HERBERT, JR.. Total genotype score and athletic status: An exploratory cross-sectional study of a Brazilian athlete cohort. ANNALS OF HUMAN GENETICS, v. 84, n. 2, p. 10-pg., 2019-10-01. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; SILVA, MARIANA SUSSI; TRITTO, ALINE CAPPARELLI; PAINELLI, VITOR; LOTURCO, IRINEU; LANCHA JUNIOR, ANTONIO HERBERT; ARTIOLI, GUILHERME GIANNINI. Activin Receptor 1b (acvr1b) Rs2854464 Distribution Among Brazilian Elite Athletes. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, v. 47, n. 5, p. 1-pg., 2015-05-01. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; LANCHA, JR., ANTONIO HERBERT. Total genotype score and athletic status: An exploratory cross-sectional study of a Brazilian athlete cohort. ANNALS OF HUMAN GENETICS, OCT 2019. (12/22516-6)

LIMONGI FRANCA GUILHERME, JOAO PAULO; SEMENOVA, EKATERINA A.; ZEMPO, HIROFUMI; MARTINS, GABRIEL L.; LANCHA JUNIOR, ANTONIO H.; MIYAMOTO-MIKAMI, ERI; KUMAGAI, HIROSHI; TOBINA, TAKURO; SHIOSE, KEISUKE; KAKIGI, RYO; et al. Are Genome-Wide Association Study Identified Single-Nucleotide Polymorphisms Associated With Sprint Athletic Status? A Replication Study With 3 Different Cohorts. INTERNATIONAL JOURNAL OF SPORTS PHYSIOLOGY AND PERFORMANCE, v. 16, n. 4, p. 489-495, APR 2021. (12/22516-6)

PAINELLI, VITOR DE SALLES; DA SILVA, RAFAEL PIRES; DE OLIVEIRA JUNIOR, ODILON MARQUES; DE OLIVEIRA, LUANA FARIAS; BENATTI, FABIANA BRAGA; RABELO, TOBIAS; LIMONGI FRANCA GUILHERME, JOAO PAULO; LANCHA JUNIOR, ANTONIO HERBERT; ARTIOLI, GUILHERME GIANNINI. The Effects of Two Different Doses of Calcium Lactate on Blood pH, Bicarbonate, and Repeated High-Intensity Exercise Performance. INTERNATIONAL JOURNAL OF SPORT NUTRITION AND EXERCISE METABOLISM, v. 24, n. 3, p. 286-295, JUN 2014. (11/17059-2, 13/04806-0, 12/22516-6, 10/11221-0)

LIMONGI FRANCA GUILHERME, JOAO PAULO; LANCHA, JR., ANTONIO HERBERT. Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status. INTERNATIONAL JOURNAL OF SPORT NUTRITION AND EXERCISE METABOLISM, v. 27, n. 6, p. 533-542, DEC 2017. (12/22516-6)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

GUILHERME, João Paulo Limongi França. Polygenic profile of brazilian athletes: distribution of polymorphisms associated with physical performance. 2017. Doctoral Thesis - Universidade de São Paulo (USP). Escola de Educação Física e Esportes (EEFE/BT) São Paulo.