Evidence map›Paper›PMID 42482084›Full record

ArticleHead & face medicine2026

Association between single-nucleotide polymorphisms in endochondral development-related genes and 3D phenotypic variation of the cranial base.

Guido Artemio Marañón-Vásquez, Mônica Tirre de Souza Araújo, Antônio Carlos de Oliveira Ruellas, Mírian Aiko Nakane Matsumoto, Alejandro David Avalos Chávez, Marcio Figueiredo, Thaís de Oliveira Fernandes, Lívia Azeredo Alves Antunes, Manuel Lagravère Vich, Rafaela Scariot and 4 more

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Article in Head & face medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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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

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Guido Artemio Marañón-VásquezDepartment of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Avenida do Café, s/n, São Paulo, 14040-904, Ribeirão Preto, Brazil.
Mônica Tirre de Souza AraújoDepartment of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rua. Prof. Rodolpho Paulo Rocco, 325 - Cidade Universitária da Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, 21941-617, Brazil.
Antônio Carlos de Oliveira RuellasDepartment of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Rua. Prof. Rodolpho Paulo Rocco, 325 - Cidade Universitária da Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, 21941-617, Brazil.
Mírian Aiko Nakane MatsumotoDepartment of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Avenida do Café, s/n, São Paulo, 14040-904, Ribeirão Preto, Brazil.
Alejandro David Avalos ChávezDepartment of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Avenida do Café, s/n, São Paulo, 14040-904, Ribeirão Preto, Brazil.
Marcio FigueiredoDepartment of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Avenida do Café, s/n, São Paulo, 14040-904, Ribeirão Preto, Brazil.
Thaís de Oliveira FernandesDepartment of Specific Formation, School of Dentistry, Fluminense Federal University, Rua. Dr. Silvio Henrique Braune, 22 - Centro, Nova Friburgo, Rio de Janeiro, 28625-650, Brazil.
Lívia Azeredo Alves AntunesDepartment of Specific Formation, School of Dentistry, Fluminense Federal University, Rua. Dr. Silvio Henrique Braune, 22 - Centro, Nova Friburgo, Rio de Janeiro, 28625-650, Brazil.
Manuel Lagravère VichSchool of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, 5-524, 11405 87 Ave NW, Edmonton, AB, T6G 1C9, Canada.
Rafaela ScariotDepartment of Stomatology, School of Dentistry, Federal University of Paraná, Av. Prefeito Lothário Meissner, 632 - Jardim Botânico, Curitiba, PR, 80210-170, Brazil.
Carlos Flores-MirSchool of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, 5-524, 11405 87 Ave NW, Edmonton, AB, T6G 1C9, Canada.
Christian KirschneckDepartment of Orthodontics, University Hospital of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany.
Leonardo Dos Santos AntunesDepartment of Specific Formation, School of Dentistry, Fluminense Federal University, Rua. Dr. Silvio Henrique Braune, 22 - Centro, Nova Friburgo, Rio de Janeiro, 28625-650, Brazil.
Erika Calvano KüchlerDepartment of Orthodontics, University Hospital of Bonn, Welschnonnenstr. 17, Bonn, 53111, Germany. erikacalvano@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) in endochondral development-related genes and cranial base 3D phenotypes.

methodsCBCT scans and the genomic DNA of 118 individuals were evaluated (age range: 15-66 years; 82 females). Data from eleven 3D landmarks identified at the cranial base were subjected to geometric morphometric analysis, including Procrustes fit, principal component (PC) analyses, and estimation of centroid sizes and fluctuating asymmetry scores. Seven SNPs within BMP2, BMP4, RUNX2, and SMAD6 were genotyped by real-time PCR. General linear models (GLM) were fitted to assess the effect of SNPs on cranial base shape, size, and symmetry quantitative traits.

resultsSeven PCs were identified for each shape variation aspect (i.e., symmetric and asymmetric components). These explained 81.9% and 84.6% of the total variation, respectively. GLM did not evidence strong associations between cranial base shape aspects and the studied SNPs. GLM including age, sex and BMP2 rs1005464 as predictor variables, showed a strong explanatory power of the variation in the size of the cranial base (adjusted R

conclusionsThe results suggest that BMP2 rs1005464 could be associated with variations in the cranial base size.

Indexed as

Bone Morphogenetic Protein 2Polymorphism, Single NucleotideSkull BaseAdolescentAdultAgedBone Morphogenetic Protein 4Core Binding Factor Alpha 1 SubunitFemaleGenotypeHumansImaging, Three-DimensionalMaleMiddle AgedPhenotypeReal-Time Polymerase Chain ReactionBMP2 protein, humanBMP4 protein, humanBone Morphogenetic Protein 2Bone Morphogenetic Protein 4Core Binding Factor Alpha 1 SubunitRUNX2 protein, humanSmad6 ProteinSMAD6 protein, humanBMP2 protein, humanBMP4 protein, humanCore Binding Factor Alpha 1 SubunitPolymorphism, Single NucleotideRUNX2 protein, humanSkull BaseSmad6 Protein

Identifiers

PMID42482084
PMCPMC13397726

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