Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.

ABSTRACT: Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital facial malformation with a multifactorial etiology. Genome-wide association studies (GWASs) have identified multiple genetic risk loci. However, functional interpretation of these loci is hampered by the underrepresentation in public resources of systematic functional maps representative of human embryonic facial development. To generate novel insights into the etiology of nsCL/P, we leveraged published GWAS data on nsCL/P as well as available chromatin modification and expression data on mid-facial development. Our analyses identified five novel risk loci, prioritized candidate target genes within associated regions, and highlighted distinct pathways. Furthermore, the results suggest the presence of disti

SUBMITTER: Welzenbach J 

PROVIDER: S-EPMC8756534 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature