title: Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
abstract: BACKGROUND
  Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
  
  
  OBJECTIVE
  In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
  
  
  METHODS
  PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
  
  
  RESULTS
  PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
  
  
  CONCLUSIONS
  In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.
authors.affiliation: Clinique Dermatologique, Université Louis Pasteur, Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. bernard.cribier@chru-strasbourg.fr
authors.forename: Bernard
authors.initials: B
authors.lastname: Cribier
authors.forename: Christine
authors.initials: C
authors.lastname: Chiaverini
authors.forename: Nassim
authors.initials: N
authors.lastname: Dali-Youcef
authors.forename: Michèle
authors.initials: M
authors.lastname: Schmitt
authors.forename: Michèle
authors.initials: M
authors.lastname: Grima
authors.forename: Christine
authors.initials: C
authors.lastname: Hirth
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Lacour
authors.forename: Olivier
authors.initials: O
authors.lastname: Chosidow
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D005260:Female; D005602:France; D005838:Genotype; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D011446:Prospective Studies; D012307:Risk Factors; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood*
chemical_list: D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014575:Uroporphyrinogen Decarboxylase