Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate.

ABSTRACT: The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO). However, the genetic architecture underlying NSCPO is largely unknown. Here we performed a 2-stage genome-wide association study (GWAS) on NSCPO and replication analyses of selected variants in other NSOFCs from the Chinese Han population. We identified a novel locus (15q24.3) and a known locus (1q32.2) where variants in or near the gene reached genome-wide significance (2.80 × 10^-13 < P < 1.72 × 10^-08) in a test for association with NSCPO in a case-control design. Although a variant from 15q24.3 was found to be significantly associated with bot

SUBMITTER: He M 

PROVIDER: S-EPMC8256250 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature