title: Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Subjects 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.
  
  
  RESULTS
  A total of 259 probands were analyzed. A TDT detected overtransmission of the rs2235371 G 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.
  
  
  CONCLUSIONS
  The 8q24 region plays a role in CL/P and the IRF6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.
authors.affiliation: Laboratório de Medicina Genômica - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.|Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: L T
authors.initials: LT
authors.lastname: de Souza
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: T W
authors.initials: TW
authors.lastname: Kowalski
authors.affiliation: Laboratório de Medicina Genômica - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: J
authors.initials: J
authors.lastname: Ferrari
authors.affiliation: Serviço de Genética Clínica, Faculdade de Medicina, Hospital Universitário Professor Alberto Antunes, Universidade Federal de Alagoas, Maceió, Brazil.
authors.forename: I L
authors.initials: IL
authors.lastname: Monlléo
authors.affiliation: Hospital Infantil Albert Sabin, Fortaleza, Brazil.
authors.forename: E M
authors.initials: EM
authors.lastname: Ribeiro
authors.affiliation: Centro de Atendimento Integral ao Fissurado Lábio-palatal, Curitiba, Brazil.
authors.forename: J
authors.initials: J
authors.lastname: de Souza
authors.affiliation: Serviço de Genética, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, Brazil.
authors.forename: A C
authors.initials: AC
authors.lastname: Fett-Conte
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, Brazil.
authors.forename: T K
authors.initials: TK
authors.lastname: de Araujo
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, Brazil.
authors.forename: V L
authors.identifier: http://orcid.org/0000-0003-1288-0554
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil.
authors.forename: Â K C
authors.initials: ÂK
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil.
authors.forename: S E B
authors.initials: SE
authors.lastname: dos Santos
authors.affiliation: Laboratório de Medicina Genômica - Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.|Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.|Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: T M
authors.initials: TM
authors.lastname: Félix
mesh_terms: D000483:Alleles; D044383:Black People / Q000235:genetics; D001938:Brazil; D002898:Chromosomes, Human, Pair 8; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D054643:INDEL Mutation; D007199:Indians, South American / Q000235:genetics; D050835:Interferon Regulatory Factors / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors
keywords: candidate gene analysis; cleft lip; cleft palate; congenital defects; craniofacial