title: Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms in oral squamous cell carcinoma in south-east Iran.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase (MTHFR) gene encodes an essential enzyme involving in folate metabolism. Due to the role of folate in DNA integrity, polymorphisms of MTHFR are interesting targets for cancer risk studies. Our goal was to evaluate the prevalence of MTHFR C677T and A1298T single nucleotide polymorphisms in oral squamous cell carcinoma (OSCC).
  
  
  METHODS
  The study was conducted on 57 OSCC patients diagnosed within 2004-2013 along with 62 non-OSCC subjects. DNA was extracted by standard kit protocol. Subsequently, tetra-ARMS (amplification refractory mutation system)-PCR was applied to identify the selected polymorphisms.
  
  
  RESULTS
  Data showed that CT and TT genotypes of C677T polymorphisms significantly increased the risk of OSCC [odds ratio (OR) = 2.2, 95% CI: 1-5, P = 0.04]. Although allelic distribution was not significantly different between patients and controls, T allele of C677T polymorphism was closely associated with the risk of OSCC (OR = 2.5; 95% CI: 0.9-6.9; P = 0.07). Results indicated that C677T/A1298C: CC/AC and C677T/A1298C: CC/AA haplotypes were the most common combinations in OSCC patient and control groups, respectively. (OR = 1.5, 95% CI: 0.6-3.8, P > 0.05).
  
  
  CONCLUSIONS
  Our results highlight the possible impact of C677T polymorphism in increasing the risk of OSCC development.
authors.affiliation: Genetics of Non-Communicable Disease Research Centre, Zahedan University of Medical Sciences, Zahedan, Iran.|Department of Genetics, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Miri-Moghaddam
authors.affiliation: Oral and Dental Disease Research Centre, Department of Oral & Maxillofacial Pathology, Faculty of Dentistry, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Shirin
authors.initials: S
authors.lastname: Saravani
authors.affiliation: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Yasamn
authors.initials: Y
authors.lastname: Garme
authors.affiliation: Faculty of Dentistry, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Arezoo
authors.initials: A
authors.lastname: Khosravi
authors.affiliation: Faculty of Allied Medical Sciences, Zabol University of Medical Sciences, Zabol, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Bazi
authors.affiliation: Faculty of Dentistry, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Jamaledin
authors.initials: J
authors.lastname: Motazedian
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002294:Carcinoma, Squamous Cell / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005492:Folic Acid / Q000378:metabolism; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006258:Head and Neck Neoplasms / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: methylenetetrahydrofolate reductase; oral squamous cell carcinoma; single nucleotide polymorphism