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The frequency of the ACTN3 polymorphism in Brazil: a systematic review and meta-analysis.

作者信息

Silvino Valmir Oliveira, Ferreira Cirley Pinheiro, Apaza Helen Matias, de Souza-Junior Valtemir Silvino, Ribeiro Sérgio Luís Galan, Almeida Sandro Soares, Dos Santos Marcos Antonio Pereira

机构信息

Department of Biophysics and Physiology, Nucleus of Study in Physiology Applied to Performance and Health (NEFADS), Federal University of Piaui, Teresina, Brazil.

Rede Nordeste de Biotecnologia (RENORBIO) Post-Graduation Program, Teresina, Brazil.

出版信息

BMC Med Genomics. 2025 Apr 26;18(1):79. doi: 10.1186/s12920-025-02136-1.


DOI:10.1186/s12920-025-02136-1
PMID:40287724
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12034205/
Abstract

BACKGROUND: The ACTN3 gene encodes the protein alpha-actinin-3, which is crucial for fast-twitch muscle fibers, contributing to rapid and forceful contractions. The distribution of these genotypes and their impact on sports performance in Brazilian populations are not well-documented. This study aimed to determine the allelic and genotypic frequency of the ACTN3 R/X polymorphism in Brazil and its association with sports performance. METHODS: A systematic review was conducted, including studies sourced from PubMed, Scielo, LILACS, LIPECS, Coleciona SUS, CUMED, BINACIS, IBECS, and MEDLINE databases, resulting in 42 studies included. The quality of these studies was assessed using the Strengthening the Reporting of Genetic Association (STREGA) guidelines. RESULTS: Among all the 8,746 participants, 35.2% had the RR genotype, 46.2% had the RX genotype, and 18.6% had the XX genotype. Regarding allelic frequency, 58.3% were R allele carriers, while 41.7% were X allele carriers. Meta-analysis showed that there was no consistent association between the ACTN3 genotypes and sports performance, although some data suggested potential benefits in athletic performance. CONCLUSION: This study revealed that the RX genotype of the ACTN3 R577X polymorphism is the most prevalent in Brazil, followed by the RR and XX genotypes. While the R allele was more frequent, the meta-analysis did not confirm a consistent association between ACTN3 genotypes and sports performance, suggesting that other genetic and environmental factors contribute to athletic success.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/03517ff43ba2/12920_2025_2136_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/64d0becc2e0e/12920_2025_2136_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/813ea77507fc/12920_2025_2136_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/03517ff43ba2/12920_2025_2136_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/64d0becc2e0e/12920_2025_2136_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/813ea77507fc/12920_2025_2136_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b129/12034205/03517ff43ba2/12920_2025_2136_Fig3_HTML.jpg

相似文献

[1]
The frequency of the ACTN3 polymorphism in Brazil: a systematic review and meta-analysis.

BMC Med Genomics. 2025-4-26

[2]
Genotype Distribution of the p.R577X Polymorphism in Elite Badminton Players: A Preliminary Study.

Genes (Basel). 2022-12-23

[3]
A Systematic Review and Meta-analysis of the Association Between ACTN3 R577X Genotypes and Performance in Endurance Versus Power Athletes and Non-athletes.

Sports Med Open. 2024-4-12

[4]
ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers.

J Sports Sci. 2012-1-6

[5]
R577X Genotype and Exercise Phenotypes in Recreational Marathon Runners.

Genes (Basel). 2019-5-29

[6]
Association between ACTN3 (R577X), BDKRB2 (-9/+9) and AGT (M235T) polymorphisms and physical performance in Brazilian junior handball players.

Sci Rep. 2025-2-17

[7]
Association analysis of the ACTN3 R577X polymorphism with passive muscle stiffness and muscle strain injury.

Scand J Med Sci Sports. 2017-11-3

[8]
The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters.

Exp Physiol. 2011-9-19

[9]
Association between the ACTN3 R577X polymorphism and artistic gymnastic performance in Italy.

Genet Test Mol Biomarkers. 2009-6

[10]
The alpha-actinin-3 r577x polymorphism and physical performance in soccer players.

J Sports Med Phys Fitness. 2016-3

本文引用的文献

[1]
Association between ACTN3 (R577X), BDKRB2 (-9/+9) and AGT (M235T) polymorphisms and physical performance in Brazilian junior handball players.

Sci Rep. 2025-2-17

[2]
Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study.

Ann Hum Genet. 2024-11

[3]
Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain among Brazilian High-Performance Athletes.

Int J Mol Sci. 2024-3-14

[4]
Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers.

BMC Sports Sci Med Rehabil. 2024-2-19

[5]
The frequency of the ACE I/D polymorphism in South America: a systematic review and meta-analysis.

Mol Cell Biochem. 2024-11

[6]
Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension.

Arch Endocrinol Metab. 2023-11-10

[7]
Genetic Polymorphisms and Their Impact on Body Composition and Performance of Brazilians in a 105 Km Mountain Ultramarathon.

Eur J Investig Health Psychol Educ. 2023-9-10

[8]
Progressive strength training can reverse sarcopenia stage in middle-aged and older adults regardless of their genetic profile.

Arch Gerontol Geriatr. 2024-2

[9]
Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League.

Gene. 2023-5-5

[10]
A Pilot Study on the Prediction of Non-Contact Muscle Injuries Based on R577X and I/D Polymorphisms in Professional Soccer Athletes.

Genes (Basel). 2022-11-2

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