Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports
cleft lip with or without cleft palate
congenital malformation
genome-wide association study
orofacial cleft
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
07 12 2019
07 12 2019
Historique:
received:
04
11
2019
revised:
04
12
2019
accepted:
05
12
2019
entrez:
11
12
2019
pubmed:
11
12
2019
medline:
28
4
2020
Statut:
epublish
Résumé
Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (
Identifiants
pubmed: 31817908
pii: genes10121023
doi: 10.3390/genes10121023
pmc: PMC6947597
pii:
doi:
Substances chimiques
Adaptor Proteins, Vesicular Transport
0
SH3PXD2A protein, human
0
Types de publication
Clinical Trial
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
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