title: Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.
abstract: OBJECTIVE
  Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development.
  
  
  METHODS
  We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFβ3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P.
  
  
  RESULTS
  Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed.
  
  
  CONCLUSIONS
  The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P.
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil. liviaparanaib@gmail.com
authors.forename: Lívia-Máris-Ribeiro
authors.initials: LM
authors.lastname: Paranaíba
authors.forename: Sibele-Nascimento
authors.initials: SN
authors.lastname: de Aquino
authors.forename: Andreia
authors.initials: A
authors.lastname: Bufalino
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli-Júnior
authors.forename: Edgard
authors.initials: E
authors.lastname: Graner
authors.forename: Luciano-Abreu
authors.initials: LA
authors.lastname: Brito
authors.forename: Maria-Rita dos Santos
authors.initials: MR
authors.lastname: e Passos-Bueno
authors.forename: Ricardo-D
authors.initials: RD
authors.lastname: Coletta
authors.forename: Mário-Sérgio-Oliveira
authors.initials: MS
authors.lastname: Swerts
mesh_terms: D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D002971:Cleft Lip / Q000453:epidemiology* / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology* / Q000235:genetics*; D005838:Genotype; D006128:Growth / Q000235:genetics; D006801:Humans; D008445:Maxillofacial Development / Q000235:genetics; D011110:Polymorphism, Genetic; D012306:Risk; D012886:Skull / Q000254:growth & development