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

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^-8) associated with CHP. One gene at this locus, angiopoietin-l

SUBMITTER: Robinson K 

PROVIDER: S-EPMC10502411 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature