Faculty and Staff 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
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
Comments
Supplementary Materials
PMID: 37719664