title: HFE gene mutations in alcoholic and virus-related cirrhotic patients with hepatocellular carcinoma.
abstract: OBJECTIVE
  The increased risk of developing hepatocellular carcinoma in hereditary hemochromatosis has been associated with cirrhosis and hepatic iron overload. The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis.
  
  
  METHODS
  Serum markers of iron status and HFE mutations were determined in 179 patients with alcoholic cirrhosis and 98 patients with hepatitis B and/or hepatitis C virus-related cirrhosis. A total of 43 patients with alcoholic cirrhosis and 34 patients with virus-related cirrhosis had hepatocellular carcinoma. The control group consisted of 159 healthy bone marrow donors.
  
  
  RESULTS
  No differences were found in the frequencies of mutations among patients with alcoholic cirrhosis, those with virus-related cirrhosis, and the control subjects. However, nine (20.9%) of the 43 patients with alcoholic cirrhosis and hepatocellular carcinoma were heterozygous for the C282Y mutation, compared with six (4.4%) of the 136 patients without tumor (p = 0.002). This difference was not found in patients with virus-related cirrhosis, with or without hepatocellular carcinoma, or the H63D mutation. The transferrin saturation was the only serum iron marker the value of which was significantly higher among C282Y heterozygotes with alcoholic cirrhosis compared to those without mutation.
  
  
  CONCLUSIONS
  The high frequency of heterozygosity for the C282Y mutation in patients with alcoholic cirrhosis plus hepatocellular carcinoma suggests that the presence of this mutation could be associated with an increased risk of developing hepatocellular carcinoma in these patients.
authors: Department of Gastroenterology, Hospital Central de Asturias, Spain.
authors: Eugenia
authors: E
authors: Lauret
authors: Manuel
authors: M
authors: Rodríguez
authors: Segundo
authors: S
authors: González
authors: Antonio
authors: A
authors: Linares
authors: Antonio
authors: A
authors: López-Vázquez
authors: Jesús
authors: J
authors: Martínez-Borra
authors: Luis
authors: L
authors: Rodrigo
authors: Carlos
authors: C
authors: López-Larrea
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D006528:Carcinoma, Hepatocellular / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006509:Hepatitis B / Q000150:complications*; D006526:Hepatitis C / Q000150:complications*; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications* / Q000235:genetics*; D008104:Liver Cirrhosis, Alcoholic / Q000150:complications* / Q000235:genetics*; D008113:Liver Neoplasms / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012307:Risk Factors
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins