Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Humans Animals Mice Cleft Palate / epidemiology Genome-Wide Association Study Cleft Lip / epidemiology Risk Factors Angiopoietin-Like Protein 2
GWAS genome sequencing hard palate osteogenesis palate palatogenesis phenotypic heterogeneity soft palate subtype

Journal

HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885

Informations de publication

Date de publication:
12 10 2023
Historique:
received: 23 05 2023
accepted: 18 08 2023
medline: 19 9 2023
pubmed: 18 9 2023
entrez: 18 9 2023
Statut: epublish

Résumé

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified a single genome-wide significant locus at 9q33.3 (lead SNP rs7035976, p = 4.24 × 10

Identifiants

DOI: 10.1016/j.xhgg.2023.100234 PMID: 37719664 PMC: PMC10502411
pubmed: 37719664
doi: 10.1016/j.xhgg.2023.100234
pii: S2666-2477(23)00066-0
pmc: PMC10502411
doi:

Substances chimiques

ANGPTL2 protein, human 0
Angiopoietin-Like Protein 2 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural Research Support, U.S. Gov't, P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

100234

Subventions

Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE030342
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE011931
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE028300
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE014581
Pays : United States
Organisme : NIDCR NIH HHS
ID : R37 DE008559
Pays : United States
Organisme : NIDCR NIH HHS
ID : R00 DE024571
Pays : United States
Organisme : NIMHD NIH HHS
ID : S21 MD001830
Pays : United States
Organisme : NIGMS NIH HHS
ID : U54 GM133807
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008490
Pays : United States
Organisme : NIDCR NIH HHS
ID : F31 DE032588
Pays : United States
Organisme : NIDCR NIH HHS
ID : R56 DE030917
Pays : United States
Organisme : NIDCR NIH HHS
ID : F32 DE032260
Pays : United States
Organisme : Wellcome Trust
ID : WT223718/Z/21/Z
Pays : United Kingdom

Commentaires et corrections

Type : UpdateOf

Informations de copyright

© 2023 The Authors.

Déclaration de conflit d'intérêts

M.P.E. is a member of the Human Genetics and Genomics Advances Editorial Board.

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Auteurs

Kelsey Robinson (K)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Trenell J Mosley (TJ)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Kenneth S Rivera-González (KS)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.

Christopher R Jabbarpour (CR)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.

Sarah W Curtis (SW)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Wasiu Lanre Adeyemo (WL)

Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos 101017, Nigeria.

Terri H Beaty (TH)

Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA.

Azeez Butali (A)

Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA.

Carmen J Buxó (CJ)

School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA.

David J Cutler (DJ)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Michael P Epstein (MP)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Lord J J Gowans (LJJ)

Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.

Jacqueline T Hecht (JT)

Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA.

Jeffrey C Murray (JC)

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

Gary M Shaw (GM)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Lina Moreno Uribe (LM)

Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA.

Seth M Weinberg (SM)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA.

Harrison Brand (H)

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

Mary L Marazita (ML)

Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA.

Robert J Lipinski (RJ)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.

Elizabeth J Leslie (EJ)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Eucaryotes › Animaux › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations de la bouche › Fente palatine › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations de la bouche › Bec-de-lièvre › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Trio-based GWAS identifies novel associations...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines angiogéniques › Protéines semblables à l'angiopoïétine › Protéine-2 de type angiopoïétine › Trio-based GWAS identifies novel associations...