Genome scan reveals several loci associated with torus palatinus.

GWAS exonic variants exostosis torus palatinus

Journal

Orthodontics & craniofacial research
ISSN: 1601-6343
Titre abrégé: Orthod Craniofac Res
Pays: England
ID NLM: 101144387

Informations de publication

Date de publication:
18 Sep 2024
Historique:
revised: 29 08 2024
received: 27 06 2024
accepted: 05 09 2024
medline: 18 9 2024
pubmed: 18 9 2024
entrez: 18 9 2024
Statut: aheadofprint

Résumé

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

Identifiants

pubmed: 39291419
doi: 10.1111/ocr.12857
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIDCR NIH HHS
ID : R01-DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01-DE032122
Pays : United States
Organisme : NIDCR NIH HHS
ID : X01-HG011437
Pays : United States
Organisme : NIDCR NIH HHS
ID : R00-DE024571
Pays : United States
Organisme : NIDCR NIH HHS
ID : S21-MD001830
Pays : United States
Organisme : NIDCR NIH HHS
ID : U54-GM133807
Pays : United States

Informations de copyright

© 2024 The Author(s). Orthodontics & Craniofacial Research published by John Wiley & Sons Ltd.

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Auteurs

Myoung Keun Lee (MK)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Ahmed M El Sergani (AM)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Noah Herrick (N)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Rebecca M Green (RM)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Carmencita Padilla (C)

Department of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines.

Carmen J Buxó (CJ)

Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.

Ross E Long (RE)

Lancaster Cleft Palate Clinic, Lancaster, Pennsylvania, USA.

Consuelo Valencia-Ramirez (C)

Clinica Noel, Medellin, Colombia.

Claudia P Restrepo Muñeton (CPR)

Clinica Noel, Medellin, Colombia.

Lina M Moreno Uribe (LM)

Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa, USA.

Wasiu L Adeyemo (WL)

Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.

Azeez Butali (A)

Department of Oral Pathology, Radiology, and Medicine, University of Iowa, Iowa City, Iowa, USA.

Mary L Marazita (ML)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

John R Shaffer (JR)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Seth M Weinberg (SM)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Classifications MeSH