title: Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
abstract: BACKGROUND
  Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. The present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene (c.677C>T and c.1298A>C) with the occurrence of nsCL/P in an Iranian population.
  
  
  METHODS
  Forty-five nsCL/P patients, 43 mothers of patients, and 101 unrelated controls participated in the present study. Analysis of c.677C>T and c.1298A>C polymorphisms in MTHFR gene was conducted using polymerase chain reaction and restriction enzyme digestions.
  
  
  RESULTS
  There was no statistical difference in genotype and allele frequencies for c.677C>T variants between patients or their mothers and the control group. However, differences in the frequencies of alleles and genotypes of c.1298A>C polymorphism were statistically significant between patients and control group (P=0.01 for alleles and P=0.005 for genotypes). The odds ratios (OR) for the CC versus AA homozygotes were 6.1 (95% CI 1.8-20.5) and 4.2 (95% CI 1.1-15.4), in patients and mothers, respectively.
  
  
  CONCLUSIONS
  We found no association between genetic polymorphism of MTHFR c.677C>T and the risk of nsCL/P in the population studied. Yet the results suggested that c.1298A>C polymorphism of MTHFR gene may be a risk factor for the occurrence of nsCL/P in the Iranian population.
authors.affiliation: 1. Dept. of Orthodontics, School of Dentistry, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Arezoo
authors.initials: A
authors.lastname: Jahanbin
authors.affiliation: 2. Dental Material Research Center, School of Dentistry, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Nadia
authors.initials: N
authors.lastname: Hasanzadeh
authors.affiliation: 3. Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Faraneh
authors.initials: F
authors.lastname: Abdolhoseinpour
authors.affiliation: 4. Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Ariane
authors.initials: A
authors.lastname: Sadr-Nabavi
authors.affiliation: 5. Dr. Sheikh Hospital, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Mohammad-Ali
authors.initials: MA
authors.lastname: Raisolsadat
authors.affiliation: 6. Jahade Daneshgahi of Mashhad , Mashhad, Iran.
authors.forename: Khosro
authors.initials: K
authors.lastname: Shamsian
authors.affiliation: 7. Dental Research Center, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Farnaz
authors.initials: F
authors.lastname: Mohajertehran
authors.affiliation: 8. Dept. of Pediatric Gastroenterology, Ghaem Medical Center, Mashhad University of Medical Sciences , Mashhad, Iran.
authors.forename: Hamidreza
authors.initials: H
authors.lastname: Kianifar
keywords: Cleft Lip; Cleft palate; Folic acid; MTHFR; Methylenetetrahydrofolate reductase; Non-syndromic cleft