title: Polymorphisms in methylenetetrahydrofolate reductase and cystathionine beta-synthase in oral cancer - a case-control study in southeastern Brazilians.
abstract: BACKGROUND
  Oral squamous cell carcinoma (OSCC) is a serious public health problem, due to its high mortality rate and worldwide rising incidence. OSCC susceptibility is mediated by interactions between genetic and environmental factors. Studies suggest that genetic variants encoding enzymes involved in folate metabolism may modulate OSCC risk by altering DNA synthesis/repair and methylation process.
  
  
  OBJECTIVE
  The goals of this study were to evaluate the association of three genotypic polymorphism (MTHFR C677T, MTHFR A1298C and CBS 844ins68) and oral cancer risk in southeastern Brazilians and evaluate the interactions between polymorphisms and clinical histopathological parameters.
  
  
  METHODS
  This case-control study included 101 cases and 102 controls in the state of Espírito Santo, Brazil. MTHFR genotyping was done by PCR-RFLP (polymerase chain reaction - restriction fragment length polymorphism) and CBS genotyping by PCR (polymerase chain reaction) analysis.
  
  
  RESULTS
  MTHFR C677T polymorphism was associated with lymph node involvement. Genotype CT+TT acted as a protective factor. MTHFR A1298C AC+CC genotype was associated with tumor differentiation, and possibly with a better prognosis. In risk analysis, no correlation was observed between genotypes and OSCC.
  
  
  CONCLUSIONS
  We concluded that MTHFR C677T, MTHFR A1298C and CBS 844ins68 polymorphisms were not associated with OSCC risk in southeastern Brazilians; however, we suggest a prognosis effect associated with MTHFR C677T and A1298C polymorphisms in OSCC.
authors.affiliation: Universidade Federal do Espírito Santo (UFES), Departamento de Ciências Biológicas, Vitória, ES, Brazil.
authors.forename: Andressa
authors.initials: A
authors.lastname: Barbosa
authors.affiliation: Universidade Federal do Espírito Santo (UFES), Departamento de Ciências Biológicas, Vitória, ES, Brazil.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Dos Santos
authors.affiliation: Hospital Santa Rita de Cássia, Divisão de Cirurgia de Cabeça e Pescoço, Programa de Prevenção e Detecção Precoce de Câncer Oral, Vitória, ES, Brazil.
authors.forename: José Roberto Vasconcelos
authors.initials: JR
authors.lastname: de Podestá
authors.affiliation: Universidade Federal do Espírito Santo (UFES), Departamento de Ciências Fisiológicas, Vitória, ES, Brazil.
authors.forename: Sônia Alves
authors.initials: SA
authors.lastname: Gouvêa
authors.affiliation: Universidade Federal do Espírito Santo (UFES), Departamento de Patologia, Vitória, ES, Brazil.
authors.forename: Sandra Ventorin
authors.initials: SV
authors.lastname: Von Zeidler
authors.affiliation: Universidade Federal do Espírito Santo (UFES), Departamento de Ciências Biológicas, Vitória, ES, Brazil.
authors.forename: Iúri Drumond
authors.initials: ID
authors.lastname: Louro
authors.affiliation: Faculdade Católica Salesiana do Espírito Santo, Vitória, ES, Brazil. Electronic address: melissafcs@yahoo.com.br.
authors.forename: Melissa de Freitas
authors.initials: Mde F
authors.lastname: Cordeiro-Silva
mesh_terms: D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000201:enzymology* / Q000235:genetics; D016022:Case-Control Studies; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000201:enzymology* / Q000235:genetics; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase
keywords: Carcinoma epidermoide oral; Cistationina beta-sintase; Cystathionine beta-synthase; Genetic polymorphism; Methylenetetrahydrofolate reductase; Metilenotetrahidrofolato redutase; Oral squamous cell carcinoma; Polimorfismo genético