title: Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic hepatitis B and C in Taiwan.
abstract: OBJECTIVE
  The implication of hemochromatosis (HFE) gene mutations in chronic viral hepatitis remains controversial. We therefore studied the prevalence of HFE mutations and their impact on the progression of chronic viral hepatitis in Taiwan.
  
  
  METHODS
  H63D and C282Y mutations were screened by using polymerase chain reaction followed by restriction fragment length polymorphism in 152 chronic hepatitis B patients with various stages of liver disease, 87 chronic hepatitis C patients with various stages of liver disease, and 49 healthy controls. The distribution of each allele frequency was then compared among different groups of patients and in various stages of liver disease.
  
  
  RESULTS
  All three groups of patients were C282Y wild type and the majority of H63D mutations were heterozygotes. Although statistically not significant, allele frequencies of H63D mutation in hepatitis B-related liver cirrhosis (6%) and hepatitis C-related liver cirrhosis (9.1%) were higher than those in healthy control (2%). After adjustment for age and sex, hepatitis B patients with H63D heterozygosity had a higher likelihood of cirrhosis than those with H63D wild type (odds ratios (OR): 3.2, confidence interval (CI): 0.49-20.5, P = 0.22). Similarly, hepatitis C patients with H63D homozygosity had a higher likelihood of cirrhosis compared with those with H63D wild type (OR: 2.35, CI : 0.19-28.5, P = 0.52).
  
  
  CONCLUSIONS
  Almost all Taiwanese are C282Y wild type. H63D heterozygote and homozygote, occurring in less than 5% of the subjects, tended to be associated with the development of liver cirrhosis, irrespective of viral etiology. Screening for H63D mutation might be considered in patients with chronic viral hepatitis in Taiwan.
authors.affiliation: Division of Gastroenterology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.
authors.forename: Yone-Han
authors.initials: YH
authors.lastname: Mah
authors.forename: Jia-Horng
authors.initials: JH
authors.lastname: Kao
authors.forename: Chun-Jen
authors.initials: CJ
authors.lastname: Liu
authors.forename: Chi-Ling
authors.initials: CL
authors.lastname: Chen
authors.forename: Pei-Jer
authors.initials: PJ
authors.lastname: Chen
authors.forename: Ming-Yang
authors.initials: MY
authors.lastname: Lai
authors.forename: Ding-Shinn
authors.initials: DS
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D001707:Biopsy, Needle; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D004279:DNA, Viral / Q000032:analysis; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D000071020:Hemochromatosis Protein; D019694:Hepatitis B, Chronic / Q000453:epidemiology / Q000235:genetics*; D019698:Hepatitis C, Chronic / Q000453:epidemiology / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008111:Liver Function Tests; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015995:Prevalence; D011336:Probability; D012016:Reference Values; D012720:Severity of Illness Index; D013624:Taiwan / Q000453:epidemiology
chemical_list: D004279:DNA, Viral; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins