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

IF 2.1 4区医学 Q3 GENETICS & HEREDITY

BMC Medical Genomics Pub Date : 2025-04-26 DOI:10.1186/s12920-025-02136-1

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

{"title":"The frequency of the ACTN3 polymorphism in Brazil: a systematic review and meta-analysis.","authors":"Valmir Oliveira Silvino, Cirley Pinheiro Ferreira, Helen Matias Apaza, Valtemir Silvino de Souza-Junior, Sérgio Luís Galan Ribeiro, Sandro Soares Almeida, Marcos Antonio Pereira Dos Santos","doi":"10.1186/s12920-025-02136-1","DOIUrl":null,"url":null,"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.","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"79"},"PeriodicalIF":2.1000,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034205/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Medical Genomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12920-025-02136-1","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

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.

查看原文本刊更多论文

巴西ACTN3基因多态性的频率：系统回顾和荟萃分析。

背景：ACTN3基因编码α -肌动素-3蛋白，该蛋白对快速收缩肌纤维至关重要，有助于快速有力的收缩。这些基因型的分布及其对巴西人群运动表现的影响并没有很好的文献记载。本研究旨在确定巴西ACTN3 R/X多态性的等位基因和基因型频率及其与运动表现的关系。方法：进行系统综述，包括来自PubMed、Scielo、LILACS、LIPECS、colleciona SUS、CUMED、BINACIS、IBECS和MEDLINE数据库的研究，共纳入42项研究。这些研究的质量采用加强遗传关联报告（STREGA）指南进行评估。结果：8746例患者中，RR基因型占35.2%，RX基因型占46.2%，XX基因型占18.6%。等位基因频率方面，R等位基因携带者占58.3%，X等位基因携带者占41.7%。荟萃分析显示，ACTN3基因型与运动表现之间没有一致的联系，尽管一些数据表明它对运动表现有潜在的好处。结论：本研究发现巴西ACTN3 R577X多态性的RX基因型最为普遍，其次是RR和XX基因型。虽然R等位基因更常见，但荟萃分析并没有证实ACTN3基因型与运动表现之间的一致关联，这表明其他遗传和环境因素也有助于运动成功。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

BMC Medical Genomics 医学-遗传学

CiteScore

3.90

自引率

0.00%

发文量

243

审稿时长

3.5 months

期刊介绍： BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.