title: MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate.
abstract: OBJECTIVE
  The aim of this study was to investigate the contribution of 6 polymorphic variants of the MSX1 gene in non-syndromic cleft lip and/or palate (NSCL/P).
  
  
  METHODS
  Three hundred and fifty-eight individuals (158 NSCL/P cases and 200 controls) were genotyped by TaqMan allelic discrimination using predesigned SNP assays. Statistical analyses were conducted using the software spss 15.0 and the r statistical suite. Haplotype block structure and haplotype frequencies were determined using the Haploview. A P-value of 0.05 and confidence interval of 95% were used for all of statistical tests.
  
  
  RESULTS
  The patients with non-syndromic cleft lip and/or palate were characterized by similar distribution of MSX1 genotypes and allele in comparison to subjects without oral clefts (P > 0.05). Two haplotype blocks were constructed with polymorphisms of MSX1 gene and haplotypes formed showed a similar frequency in patients with and without oral clefts.
  
  
  CONCLUSIONS
  The present study provides no evidence that MSX1 polymorphisms (rs3775261, rs1042484, rs12532, rs6446693, rs4464513 and rs1907998) play a major role in NSCL/P.
authors.affiliation: Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
authors.forename: M L
authors.initials: ML
authors.lastname: Cardoso
authors.forename: J F
authors.initials: JF
authors.lastname: Bezerra
authors.forename: G H M
authors.initials: GH
authors.lastname: Oliveira
authors.forename: C D
authors.initials: CD
authors.lastname: Soares
authors.forename: S R
authors.initials: SR
authors.lastname: Oliveira
authors.forename: K S C
authors.initials: KS
authors.lastname: de Souza
authors.forename: H P V
authors.initials: HP
authors.lastname: da Silva
authors.forename: V N
authors.initials: VN
authors.lastname: Silbiger
authors.forename: A D
authors.initials: AD
authors.lastname: Luchessi
authors.forename: C M
authors.initials: CM
authors.lastname: Fajardo
authors.forename: R D C
authors.initials: RD
authors.lastname: Hirata
authors.forename: M G
authors.initials: MG
authors.lastname: Almeida
authors.forename: M H
authors.initials: MH
authors.lastname: Hirata
authors.forename: A A
authors.initials: AA
authors.lastname: Rezende
mesh_terms: D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human
keywords: Muscle segment homeobox gene 1 (MSX1); Non‐syndromic cleft lip and/or palate (NSCL/P); Single‐nucleotide polymorphisms (SNPs)