title: C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan.
abstract: OBJECTIVE
  The gene responsible for hereditary hemochromatosis close to the human leukocyte antigen A locus was previously identified and designated as HFE. This study was performed to evaluate the clinical significance of two mutations, C282Y and H63D of HFE, in Japanese patients with hepatic iron overload.
  
  
  METHODS
  We examined C282Y and H63D in 11 patients with primary hemochromatosis, 94 patients with chronic hepatitis C, 54 patients with miscellaneous liver diseases, and 151 healthy volunteers. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by polymerase chain reaction. Restriction enzyme analysis was performed using SnaBI for C282Y and BclI for H63D. Direct sequence analysis was then performed when products suggested the presence of a mutation.
  
  
  RESULTS
  All the subjects studied were free from C282Y. None of the patients with hemochromatosis had H63D. One patient with chronic hepatitis C was homozygous, and 4 patients were heterozygous for H63D. Two patients with alcoholic liver disease were heterozygous for H63D. The prevalence of chromosomes with H63D was 6/188 (3.2%) in patients with chronic hepatitis C, 2/108 (1.9%) in patients with miscellaneous liver diseases, and 8/302 (2.6%) in healthy volunteers. These differences were not significant.
  
  
  CONCLUSIONS
  Our results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatosis or chronic hepatitis C.
authors.affiliation: Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University, Kanazawa, Ishikawa.
authors.forename: Y
authors.initials: Y
authors.lastname: Shiono
authors.forename: R
authors.initials: R
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Wakusawa
authors.forename: F
authors.initials: F
authors.lastname: Sanae
authors.forename: T
authors.initials: T
authors.lastname: Takikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Imaizumi
authors.forename: M
authors.initials: M
authors.lastname: Yano
authors.forename: K
authors.initials: K
authors.lastname: Yoshioka
authors.forename: M
authors.initials: M
authors.lastname: Kawanaka
authors.forename: G
authors.initials: G
authors.lastname: Yamada
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D019698:Hepatitis C, Chronic / Q000235:genetics; D006639:Histidine / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D008107:Liver Diseases / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014443:Tyrosine / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D003545:Cysteine