Evidence map›Paper›PMID 34740355›Full record

ArticleBMC medical genomics2021

Frequency of allele variations in the CFTR gene in a Mexican population.

Consuelo Cantú-Reyna, Roberto Galindo-Ramírez, Mercedes Vázquez-Cantú, Lorenza Haddad-Talancón, Willebaldo García-Muñoz

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2021. 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
0.1field-weighted citation impact, top 46% of its field
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, 2 citations in OpenAlex.

  1. The globalization of cystic fibrosis care.Current opinion in pediatrics · 2025
    Review
  2. Heliyon · 2024
    Article
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

5 authors at 3 institutions in 1 country.

Consuelo Cantú-ReynaLaboratorio de genética humana, Código 46, S.A de C.V, Camelias 3-Int 10, Los Tabachines, C.P. 62498, Cuernavaca Morelos, Mexico.
Roberto Galindo-RamírezLaboratorio de genética humana, Código 46, S.A de C.V, Camelias 3-Int 10, Los Tabachines, C.P. 62498, Cuernavaca Morelos, Mexico.
Mercedes Vázquez-CantúEscuela de Medicina y Ciencias de la Salud, Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico.
Lorenza Haddad-TalancónLaboratorio de genética humana, Código 46, S.A de C.V, Camelias 3-Int 10, Los Tabachines, C.P. 62498, Cuernavaca Morelos, Mexico.
Willebaldo García-MuñozLaboratorio de genética humana, Código 46, S.A de C.V, Camelias 3-Int 10, Los Tabachines, C.P. 62498, Cuernavaca Morelos, Mexico. willebaldo.garcia.m@gmail.com.ORCID 0000-0003-2418-1419
Universidad Del Valle De Cuernavaca · MXTecnológico de Monterrey · MXUniversidad Mexicana de Educación a Distancia · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even undetermined in some countries like Mexico.

methodsIn this study, the allele frequencies of 361 variants in the CFTR gene were investigated in 1455 Mexicans without a CF or CFTR-related disorders (CFTR-RD) diagnosis. We also performed a statistical comparative analysis against allele frequencies of different populations to measure genetic differences in the prevalence of CFTR variants.

resultsIn the vast majority of cases, the allele frequencies of this cohort were comparable to those found in other populations. However, some variants displayed significant differences in their allele frequencies when compared with European and African populations.

conclusionsThis study provides information about CFTR variants to predict the prevalence of CF in Mexico and uncover other unknown but frequent pathogenic variants in the country. Additionally, other CFTR-RD variants have also been studied using population data of the same CFTR variants. Studies like this could help develop a regional molecular diagnostic screen to optimize the medical care of CF patients.

Indexed as

Gene FrequencyGenetic VariationCohort StudiesCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorHumansMexicoCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorAllele frequencyCFTR geneCFTR-RD variantsCF variantsCystic fibrosisPathogenic and likely pathogenic variants

Identifiers

PMID34740355
PMCPMC8569977
OpenAlexW3211123224

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.