Evidence map›Paper›PMID 40287724›Full record

SynthesisBMC medical genomics2025

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

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

Abstract readSystematic ReviewMeta-Analysis
In one paragraph

Synthesis in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Valmir Oliveira SilvinoDepartment of Biophysics and Physiology, Nucleus of Study in Physiology Applied to Performance and Health (NEFADS), Federal University of Piaui, Teresina, Brazil. valmirsilvino@live.com.ORCID 0000-0002-1992-5199
Cirley Pinheiro FerreiraDepartment of Biophysics and Physiology, Nucleus of Study in Physiology Applied to Performance and Health (NEFADS), Federal University of Piaui, Teresina, Brazil.ORCID 0000-0003-3632-7358
Helen Matias ApazaDepartment of Obstetrician, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.ORCID 0009-0005-6292-5062
Valtemir Silvino de Souza-JuniorDepartment of Physical Education, State University of Piauí, Teresina, Brazil.
Sérgio Luís Galan RibeiroDepartment of Biophysics and Physiology, Nucleus of Study in Physiology Applied to Performance and Health (NEFADS), Federal University of Piaui, Teresina, Brazil.ORCID 0000-0002-5251-0518
Sandro Soares AlmeidaDepartment of Obstetrician, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.ORCID 0000-0002-4392-0953
Marcos Antonio Pereira Dos SantosDepartment of Biophysics and Physiology, Nucleus of Study in Physiology Applied to Performance and Health (NEFADS), Federal University of Piaui, Teresina, Brazil.ORCID 0000-0002-0755-6138

Funding

Fundação de Amparo à Pesquisa do Estado de São Paulo #2018/16565-0Fundação de Amparo à Pesquisa e ao Desenvolvimento Científico e Tecnológico do Maranhão BD-02488/21
6 · The paper itself

Abstract

backgroundThe 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.

methodsA 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.

resultsAmong 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.

conclusionThis 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.

Indexed as

ActininGene FrequencyPolymorphism, GeneticPolymorphism, Single NucleotideAthletic PerformanceBrazilGenotypeHumansActininACTN3 protein, humanAlpha-actinin-3BrazilianEnduranceGeneticsSportsStrength

Identifiers

PMID40287724
PMCPMC12034205

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.