title: Maternal Supplementary Folate Intake, Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms and the Risk of Orofacial Cleft in Iranian Children.
abstract: BACKGROUND
  The purpose of this study was to describe the association of MTHFR gene single nucleotide polymorphisms (C677T and A1298C) and maternal supplementary folate intake with orofacial clefts in the Iranian population.
  
  
  METHODS
  In this case-control study, peripheral venous blood was taken from 65 patients with orofacial clefts and 215 unaffected controls for DNA extraction and kept in EDTA for further analysis. The genotyping was carried out using Polymerase Chain Reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) and gel electrophoresis. Data were analyzed using Chi square test and logistic regression tests.
  
  
  RESULTS
  Genotype frequencies of 677TT were reported to be 13.5 and 36.1% in controls and CL/P patients, respectively, which showed a significant difference compared to CC as reference (OR=4.118; 95% CI=1.997-8.492; p=0.001). Conversely, 1298CC with frequencies of 10.8 and 12.7% in controls and patients, respectively, showed no significant difference compared to AA (OR=2.359; 95% CI=0.792-7.023; p=0.123). Comparing patients whose mothers did not report the folate supplement intake during pregnancy, to controls, it was observed that lack of folate intake was a predisposing factor for having a child with oral clefts (OR=5/718, p=0.000).
  
  
  CONCLUSIONS
  Children carrying the 677TT variant of the MTHFR gene may have an increased risk of CL/P. In addition, the finding that the risk associated with this allele was obviously higher when the mothers didn't use folic acid, supports the hypothesis that folic acid may play a role in the etiology of CL/P.
authors.affiliation: Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Ebadifar
authors.affiliation: Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: KhorramKhorshid
authors.affiliation: Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors.forename: Koorosh
authors.initials: K
authors.lastname: Kamali
authors.affiliation: Pediatric Department, Dental School, Semnan University of Medical Sciences, Semnan, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Salehi Zeinabadi
authors.affiliation: Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Tayyebeh
authors.initials: T
authors.lastname: Khoshbakht
authors.affiliation: Orthodontic Department, Dental school, Semnan University of Medical Sciences, Semnan, Iran.
authors.forename: Nazila
authors.initials: N
authors.lastname: Ameli
keywords: Cleft lip; Cleft palate; Genes; Polymorphism