Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

Severino Leao de Albuquerque-Neto; Marcos Antonio Pereira dos Santos; Valmir Oliveira Silvino; Jose Juan Blanco Herrera; Thiago Santos Rosa; Glauber Castelo Branco Silva; Bruno Pena Couto; Cirley Pinheiro Ferreira; Alexandre Sergio Silva; Sandro Soares de Almeida; Gislane Ferreira de Melo

doi:10.1186/s13102-024-00828-2

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Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

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Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

Severino Leao de Albuquerque-Neto, Marcos Antonio Pereira dos Santos, Valmir Oliveira Silvino, Jose Juan Blanco Herrera, Thiago Santos Rosa, Glauber Castelo Branco Silva, Bruno Pena Couto, Cirley Pinheiro Ferreira, Alexandre Sergio Silva, Sandro Soares de Almeida, …

BMC Sports Science, Medicine and Rehabilitation, Vol.16, pp.1-10

2024

DOI: https://doi.org/10.1186/s13102-024-00828-2

PMCID: PMC10877830

PMID: 38374123

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Abstract

genetic polymorphisms

strength

aerobic performance

swimming

Background The influence of genetic polymorphisms on athletic performance has been widely explored. This study investigated the interactions between the polymorphisms ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M/T) and their association with endurance and strength phenotypes in Brazilian swimmers. Methods123 athletes (aged 20-30 years) and 718 controls participated in the study. The athletes were divided into elite and sub-elite (N = 19 and 104, respectively) and strength and endurance experts (N = 98 and 25, respectively). Hardy-Weinberg equilibrium was observed in all groups. Results Considering the ACE polymorphism, it was observed a higher frequency of the DD genotype than expected in the strength experts of the elite group, whereas the strength experts sub-elite athletes had a higher frequency of the ID genotype (chi(2) = 8.17; p = 0.01). Subjects with XX genotypes of ACTN3 are more likely to belong to the athlete group when compared to the control group (OR = 1.79, p = 0.04). The DD homozygotes of the ACE are more likely to belong to the elite group with strength phenotypes than the group of sub-elite (OR = 7.96, p = 0.01) and elite strength experts compared to elite endurance (OR = 18.0, p = 0.03). However, no significant differences were observed in the allelic distribution of the polymorphisms evaluated when comparing Elite, sub-elite athletes and controls. Conclusion ACE and ACTN3 allele frequencies should be considered with regard to performance influencing factors in Brazilian swimmers.

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Title: Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers
Authors: Severino Leao de Albuquerque-Neto (Author)
Marcos Antonio Pereira dos Santos (Corresponding Author) - Federal University of Piauí
Valmir Oliveira Silvino (Author) - Federal University of Piauí
Jose Juan Blanco Herrera
Thiago Santos Rosa - Universidade Católica de Brasília
Glauber Castelo Branco Silva - Universidade Estadual do Piauí
Bruno Pena Couto - University of the Sunshine Coast, Queensland, School of Health - Sports & Exercise Science
Cirley Pinheiro Ferreira - Federal University of Piauí
Alexandre Sergio Silva - Federal University of Piauí
Sandro Soares de Almeida - Hospital Israelita Albert Einstein
Gislane Ferreira de Melo - Universidade Católica de Brasília
Publication details: BMC Sports Science, Medicine and Rehabilitation, Vol.16, pp.1-10
Publisher: BioMed Central Ltd.
Date published: 2024
DOI: 10.1186/s13102-024-00828-2
ISSN: 2052-1847
PMID: 38374123; PMC10877830
Copyright note: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Data Availability: The datasets generated and/or analyzed during the current study are available in the Figshare repository and can be found at https://doi.org/10.6084/m9.figshare.24913146.
Organisation Unit: School of Health - Sports & Exercise Science
Language: English
Record Identifier: 991008298102621
Output Type: Journal article

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