title: Heterozygosity for the hemochromatosis gene in liver diseases--prevalence and effects on liver histology.
abstract: OBJECTIVE
  The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear.
  
  
  METHODS
  We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age-, sex- and disease-matched controls without the mutation using the modified HAI and Chevallier score.
  
  
  RESULTS
  The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p<0.01) compared to 6.4% in healthy controls. Heterozygotes with hepatitis C and B virus infection showed higher ferritin and hepatic iron concentrations than patients without the mutation. However, we did not detect significant differences in necroinflammatory or fibrosis scores between carriers of the mutation and controls.
  
  
  CONCLUSIONS
  There are marked differences in the prevalence of the C282Y mutation in patients with different liver diseases, with the highest prevalence rates in autoimmune hepatitis and PBC. However, the C282Y mutation alone only leads to a mild increase in iron accumulation in the majority of the patients, with the exception of H63D/C282Y compound heterozygotes. We found no evidence for more pronounced fibrosis in C282Y heterozygotes.
authors.affiliation: 1st Department of Internal Medicine, Johannes Gutenberg-University Mainz, Germany. hoehler@mail.uni-mainz.de
authors.forename: T
authors.initials: T
authors.lastname: Höhler
authors.forename: S
authors.initials: S
authors.lastname: Leininger
authors.forename: H H
authors.initials: HH
authors.lastname: Köhler
authors.forename: P
authors.initials: P
authors.lastname: Schirmacher
authors.forename: P R
authors.initials: PR
authors.lastname: Galle
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005787:Gene Frequency; D005858:Germany / Q000453:epidemiology; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006505:Hepatitis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence