title: Retrospective case-control study of correlation between MTHFR gene and OSCC risk in North India.
abstract: BACKGROUND
  Oral squamous cell carcinoma (OSCC) occurrence appears to be the number one among all cancers in India. Folate is a methyl donor during DNA methylation, as it provides substrate for methylenetetrahydrofolate reductase (MTHFR) to convert 5,10-MTHF to 5-MTHF and subsequently metabolizes it to methionine. The purpose of this study was to identify MTHFR C677T gene polymorphism in patients with OSCC.
  
  
  METHODS
  A total of 350 OSCC cases and 350 healthy controls participated in this study. MTHFR C677T single-nucleotide polymorphism was evaluated by PCR-RFLP.
  
  
  RESULTS
  In the present study, MTHFR gene 677CC, CT, and TT genotype frequencies of the total OSCC cases were 74.8; 19.4 and 5.71; and 88.5, 9.42, and 2.0 % in controls. The average frequency of the MTHFR 677T allele was 15.4 % in OSCC cases compared to 6.71 % in the controls. The CT genotype occurrence prevailed more in patients than controls in contrast to TT genotype, although both the genotypes were statistically significant for OSCC. Moreover, we found that T allele was significant in cases of smoking and tobacco chewing.
  
  
  CONCLUSIONS
  In this study, we found that the homozygous mutant T allele appeared to have significantly higher risk of OSCC especially in late stages and therefore supporting in OSCC susceptibility and its progression.
authors: Molecular Cell Biology Lab, Department of Biochemistry, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India.
authors: Hena
authors: H
authors: Naqvi
authors: Molecular Cell Biology Lab, Department of Biochemistry, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India. kaleembaksh@gmail.com.
authors: Mohammad Kaleem
authors: MK
authors: Ahmad
authors: Molecular Cell Biology Lab, Department of Biochemistry, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India.
authors: Syed Rizwan
authors: SR
authors: Hussain
authors: Department of Oral Pathology & Microbiology, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India.
authors: Shalini
authors: S
authors: Gupta
authors: Molecular Cell Biology Lab, Department of Biochemistry, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India.
authors: Mohammad
authors: M
authors: Waseem
authors: Molecular Cell Biology Lab, Department of Biochemistry, King George's Medical University, Lucknow, Uttar Pradesh, 226 003, India.
authors: Abbas Ali
authors: AA
authors: Mahdi
mesh_terms: D000328:Adult; D000483:Alleles; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: C677T; Genetic polymorphism; MTHFR; OSCC; PCR-RFLP