Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

ABSTRACT: Several genome wide association studies (GWASs) of orofacial cleft have been conducted. However only a few such studies to date have combined all cleft cases, focused on subtypes other than non-syndromic cleft lip with/without cleft palate, or investigated subtype heterogeneity. We conducted a GWAS of orofacial clefts within 2268 cases from the Cleft Collective and 7913 population-based controls; we performed analyses of all orofacial clefts, plus 7 subgroups. We replicated our findings in a meta-analysis of independent samples and investigated patterns of correlation across subgroups. We identified 27 regions at genome-wide significance, 8 of which were novel. We also conducted the first GWAS of Pierre Robin Sequence, despite the small sample size (n cases = 237), we found one genome wide

SUBMITTER: Dack K 

PROVIDER: S-EPMC12627943 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature