title: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and high plasma homocysteine in chronic hepatitis C (CHC) infected patients from the Northeast of Brazil.
abstract: OBJECTIVE
  Hyperhomocysteinemia due to Methylenetetrahydrofolate Reductase (MTHFR) gene, in particular the C677T (Ala222Val) polymorphism were recently associated to steatosis and fibrosis. We analyzed the frequency of MTHFR gene in a cross-sectional study of patients affected by Chronic Hepatitis C (CHC) from Northeast of Brazil.
  
  
  METHODS
  One hundred seven-four untreated patients with CHC were genotyped for the C677T MTHFR. Genomic DNA was extracted from peripheral blood cells and the C677T MTHFR polymorphism was identified by PCR-RFLP. The homocysteine (Hcy) levels were determined by chemiluminescence method. All patients were negative for markers of Wilson's disease, hemochromatosis and autoimmune diseases and have current and past daily alcohol intake less than 100 g/week.
  
  
  RESULTS
  Among subjects infected with CHC genotype non-1 the frequency of MTHFR genotypes TT was 9.8% versus 4.4% genotype 1 (p = 0.01). Nevertheless, association was found between the MTHFR genotype TT × CT/CC polymorphism and the degree of steatosis and fibrosis in both hepatitis C genotype (p < 0.05). A significant difference was found on plasma Hcy levels in patients with steatosis regardless of HCV genotype (p = 0.03).
  
  
  CONCLUSIONS
  Our results indicate that plasma Hcy levels is highly prevalent in subjects with chronic hepatits C with steatosis regardless of HCV genotype and vitamin deficiency. The presence of genotype TT of MTHFR C677T polymorphism was more common in CHC genotype non-1 infected patient regardless of histopathological classification and genotype TT+CT frequencies were significant in the presence of fibrosis grade 1+2 and of steatosis in CHC infected patients from the northeast of Brazil regardless of HCV genotype. The genetic susceptibility of MTHFR C677T polymorphism should be confirmed in a large population.
authors.affiliation: Department of Gastroenterology LIM-07, University of Sao Paulo School of Medicine, Avenue Dr Arnaldo, 455, Sao Paulo 01246903, Brazil.
authors.forename: Erika R F
authors.initials: ER
authors.lastname: Siqueira
authors.forename: Cláudia P M S
authors.initials: CP
authors.lastname: Oliveira
authors.forename: Maria T C
authors.initials: MT
authors.lastname: Muniz
authors.forename: Filipe
authors.initials: F
authors.lastname: Silva
authors.forename: Leila M M B
authors.initials: LM
authors.lastname: Pereira
authors.forename: Flair J
authors.initials: FJ
authors.lastname: Carrilho
mesh_terms: D001938:Brazil / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005260:Female; D005838:Genotype; D019698:Hepatitis C, Chronic / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics / Q000473:pathology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)