Evidence map›Paper›PMID 31495697›Full record

ArticleBrazilian journal of otorhinolaryngology

IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate.

João Felipe Bezerra, Heglayne Pereira Vital da Silva, Raul Hernandes Bortolin, André Ducati Luchessi, Marcela Abbott Galvão Ururahy, Melina Bezerra Loureiro, Vera Lúcia Gil-da-Silva-Lopes, Maria das Graças Almeida, Viviane Souza do Amaral, Adriana Augusto de Rezende

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

Article in Brazilian journal of otorhinolaryngology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Association of rs2013162 and rs2235375 Polymorphisms inAvicenna journal of medical biotechnology
    Article
  6. 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

10 authors at 3 institutions in 1 country.

João Felipe BezerraUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Heglayne Pereira Vital da SilvaUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Raul Hernandes BortolinUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil; Universidade de São Paulo (USP), Departamento de Análises Clínicas e Toxicológicas, São Paulo, SP, Brazil.
André Ducati LuchessiUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Marcela Abbott Galvão UrurahyUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Melina Bezerra LoureiroUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Vera Lúcia Gil-da-Silva-LopesUniversidade Estadual de Campinas, Escola de Ciências Médicas, Departamento de Genética Médica, Campinas, Campinas, SP, Brazil.
Maria das Graças AlmeidaUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil.
Viviane Souza do AmaralUniversidade Federal do Rio Grande do Norte, Departamento de Biologia Celular e Genética, Natal, RN, Brazil.
Adriana Augusto de RezendeUniversidade Federal do Rio Grande do Norte, Departamento de Análises Clínicas e Toxicológicas, Natal, RN, Brazil. Electronic address: adrirezende@yahoo.com.
Universidade Federal do Rio Grande do Norte · BRUniversidade de São Paulo · BRUniversidade Estadual de Campinas (UNICAMP) · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionNon-syndromic orofacial clefts have a complex etiology due to the contribution from both genetic and environmental risk factors, as well as the interaction between them. Among the more than 15 susceptibility loci for non-syndromic orofacial clefts with considerable statistical and biological support, the IRF6 is the most validated gene by the majority of studies. Nonetheless, in genetically heterogeneous populations such as Brazilian, the confirmation of association between non-syndromic orofacial clefts and IRF6 common variants is not a consolidated fact and unrecognized IRF6 variants are poorly investigated.

objectiveThe aim of this study was to investigate the association of IRF6 polymorphisms with non-syndromic orofacial clefts development in a population from northeast Brazil.

methodsBlood samples of 186 non-syndromic orofacial clefts patients and 182 controls from Rio Grande do Norte, Brazil, were obtained to analyze IRF6 polymorphisms (rs2235371, rs642961, rs2236907, rs861019, and rs1044516) by real-time polymerase chain reaction. Non-syndromic orofacial clefts patients were classified in cleft lip and palate, cleft palate only and cleft lip only groups.

resultsThe genotype and allele frequencies of single nucleotide polymorphism rs2235371 in IRF6 showed significant differences in patients with cleft palate when compared to the controls, whereas no association was shown between rs642961, rs2236907, rs861019, and rs1044516 and non-syndromic orofacial clefts.

conclusionThe association found between rs2235371 and isolated cleft palate should be interpreted with caution due to the low number of individuals investigated, and more studies with larger sample size are needed to confirm these association. In addition, there is a lack of association of the rs642961, rs2236907 and rs861019 polymorphisms with non-syndromic orofacial clefts susceptibility.

Indexed as

Cleft LipCleft PalateBrazilGenetic Predisposition to DiseaseGenotypeHumansInterferon Regulatory FactorsPolymorphism, GeneticInterferon Regulatory FactorsIRF6 protein, humanEtiologiaEtiologyFendas orofaciais não sindrômicasIRF6Nonsyndromic orofacial cleftsPolimorfismo de um único nucleotídeoSingle nucleotide polymorphism

Identifiers

PMID31495697
PMCPMC9422540
OpenAlexW2951111683

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.