Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)We investigated the association between non-syndromic oral cleft and variants in IRF6 (rs2235371 and rs642961) and 8q24 region (rs987525) according to the ancestry contribution of the Brazilian population. Subjects and methodsSubjects with oral cleft (CL, CLP, or CP) and their parents were selected from different geographic regions of Brazil. Polymorphisms were genotyped using a TaqMan assay and genomic ancestry was estimated using a panel of 48 INDEL polymorphisms. ResultsA total of 259 probands were analyzed. A TDT detected overtransmission of the rs2235371G allele (P=0.0008) in the total sample. A significant association of this allele was also observed in CLP (P=0.0343) and CLP+CL (P=0.0027). IRF6 haplotype analysis showed that the G/A haplotype increased the risk for cleft in children (single dose: P=0.0038, double dose: P=0.0022) and in mothers (single dose: P=0.0016). The rs987525 (8q24) also exhibited an association between the A allele and the CLP+CL group (P=0.0462). These results were confirmed in the probands with European ancestry. ConclusionsThe 8q24 region plays a role in CL/P and the IRF6G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.22 241245Fundo de Incentivo a Pesquisa e Eventos (FIPE) at Hospital de Clinicas de Porto AlegreFundacao de Amparo a Pesquisa do Estado de Sao Paulo-FAPESP [2011/51799-6]Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior-CAPESFundacao de Amparo a Pesquisa no Estado de Alagoas-FAPEALConselho Nacional de Pesquisa-CNPq [304455-/2012-1]Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)