Evidence map›Paper›PMID 39291419›Full record

ArticleOrthodontics & craniofacial research2025

Genome scan reveals several loci associated with torus palatinus.

Myoung Keun Lee, Ahmed M El Sergani, Noah Herrick, Rebecca M Green, Carmencita Padilla, Carmen J Buxó, Ross E Long, Consuelo Valencia-Ramirez, Claudia P Restrepo Muñeton, Lina M Moreno Uribe and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orthodontics & craniofacial research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Genome scan reveals several loci associated with torus palatinus.Orthodontics & craniofacial research · 2025
    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

15 authors.

Myoung Keun LeeCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Ahmed M El SerganiCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Noah HerrickCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Rebecca M GreenCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Carmencita PadillaDepartment of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines.
Carmen J BuxóDental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Ross E LongLancaster Cleft Palate Clinic, Lancaster, Pennsylvania, USA.
Consuelo Valencia-RamirezClinica Noel, Medellin, Colombia.
Claudia P Restrepo MuñetonClinica Noel, Medellin, Colombia.
Lina M Moreno UribeDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa, USA.
Wasiu L AdeyemoDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.
Azeez ButaliDepartment of Oral Pathology, Radiology, and Medicine, University of Iowa, Iowa City, Iowa, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
John R ShafferCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Seth M WeinbergCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID https://orcid.org/0000-0001-9467-4556

Funding

Hispanics in Research Capability: SoHP & SOM Partnership (HIREC)S21MD001830 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI ELIAS BONETA, AUGUSTO R, ESTAPE, ESTELA S · 2005 to 2010
$30.0M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
Tracking and Evaluation CoreU54GM133807 · NIGMS · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BONILLA-FELIX, MELVIN · 2020 to 2024
$17.7M
Research Design, Compliance, and Data Management Core (RDCD)P50GM133807 · NIGMS · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI EVANGELIA MOROU-BERMUDEZ · 2025 to 2026
$15.0M
Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community GatekeepersR01DE028300 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2020 to 2024
$3.9M
Investigating the role of genes, maternal exposures, and interactions on orofacial cleftsR01DE032122 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI SHAFFER, JOHN R · 2022 to 2024
$2.1M
Pittsburgh Craniofacial Sciences Training ProgramT90DE030853 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHARLES SFEIR · 2022 to 2026
$1.8M
Genetic and Environmental Risks for Oral Clefts in Puerto Rican HispanicsR00DE024571 · NIDCR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BUXO, CARMEN J. · 2018 to 2021
$1.2M
Genetic studies of nonsyndromic clefts in populations of African Descent.R00DE022378 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2014 to 2016
$747k
Genetic and Environmental Risks for Oral Clefts in Puerto Rican HispanicsK99DE024571 · NIDCR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BUXO, CARMEN J. · 2014 to 2015
$254k
Genetic studies of nonsyndromic clefts in populations of African Descent.K99DE022378 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2012 to 2013
$252k
NIDCR NIH HHS K99 DE022378NIDCR NIH HHS K99 DE024571NIDCR NIH HHS R00 DE022378NIDCR NIH HHS R00 DE024571NIDCR NIH HHS R00-DE024571NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01-DE016148NIDCR NIH HHS R01 DE028300NIDCR NIH HHS R01 DE032122NIDCR NIH HHS R01-DE032122NIDCR NIH HHS S21-MD001830NIDCR NIH HHS T90 DE030853NIDCR NIH HHS U54-GM133807NIDCR NIH HHS X01-HG011437NIGMS NIH HHS P50 GM133807NIGMS NIH HHS U54 GM133807NIMHD NIH HHS S21 MD001830
6 · The paper itself

Abstract

objectiveTorus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP. MATERIALS AND

methodsWe assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome-wide association study (GWAS) to identify common variants associated with TP. We also performed gene-based tests across the exome to investigate the role of low-frequency coding variants.

resultsOur GWAS did not identify any genome-wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with p-values less than 5 × 10

conclusionThese findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.

Indexed as

Genome-Wide Association StudyPalate, HardAdolescentAdultChildExostosesFemaleHumansImaging, Three-DimensionalMalePolymorphism, Single Nucleotideexonic variantsexostosisGWAStorus palatinus

Identifiers

PMID39291419
PMCPMC11701952

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Registered trials

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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.