Genome-Wide Analyses Identify A Novel Risk Locus For Nonsyndromic Cleft Palate
JOURNAL OF DENTAL RESEARCH(2020)
摘要
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 x 10(-13)
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关键词
common variants, functional variants, genetic risk loci, genome-wide association study, orofacial clefts, susceptibility
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