Faculty, Staff and Student Publications
Publication Date
10-12-2023
Journal
Human Genetics and Genomics Advances
Abstract
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
Keywords
Humans, Animals, Mice, Cleft Palate, Genome-Wide Association Study, Cleft Lip, Risk Factors, Angiopoietin-Like Protein 2
DOI
10.1016/j.xhgg.2023.100234
PMID
37719664
PMCID
PMC10502411
PubMedCentral® Posted Date
August 2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Maternal and Child Health Commons, Mental and Social Health Commons, Obstetrics and Gynecology Commons, Other Medical Specialties Commons
