title: Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.
abstract: OBJECTIVE
  Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect which is strongly associated with genetic factors. Previous studies in several populations showed a significant correlation between IRF6 rs642961 polymorphism and NSCL/P. The aim of this study is to indicate the correlation of IRF6 rs642961 polymorphism and NSCL/P in Iranian NSCL/P families.
  
  
  METHODS
  In this study, we analyzed IRF6 rs642961 genotype in 352 individuals from 102 Iranian nuclear families affected by NSCL/P using iPlex assay on a Sequenom MassARRAY platform. Hardy-Weinberg equilibrium and Mendelian error checking were performed by Haploview 4.2. Allelic association analysis was conducted with family-based association tests implemented in FBAT program v2.03.
  
  
  RESULTS
  The family-based association analysis revealed no significant association between IRF6 rs642961 genotypes and an increased NSCL/P risk.
  
  
  CONCLUSIONS
  In contrast to other Asian populations, our study indicates that the IRF6 rs642961 polymorphism cannot be a risk factor for NSCL/P in an Iranian population.
  
  
  CONCLUSIONS
  Genetic factors have an important role in NSCL/P, among which interferon regulatory factor 6 (IRF6) has been reported as a risk factor for NSCL/P in several populations; however, our data indicated no significant association between IRF6 polymorphism and NSCL/P in an Iranian population.
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Nayereh
authors.initials: N
authors.lastname: Nouri
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Memarzadeh
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
authors.forename: Francesca
authors.initials: F
authors.lastname: Cura
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Narges
authors.initials: N
authors.lastname: Nouri
authors.forename: Fariba
authors.initials: F
authors.lastname: Jafary
authors.forename: Maryam
authors.initials: M
authors.lastname: Sedghi
authors.forename: Leyli
authors.initials: L
authors.lastname: Sadri
authors.forename: Mansoor
authors.initials: M
authors.lastname: Salehi
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005190:Family; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors