title: Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.
abstract: OBJECTIVE
  It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.
  
  
  METHODS
  The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.
  
  
  RESULTS
  The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty-two patients (44%) were HCV-RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations.
  
  
  CONCLUSIONS
  HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.
authors.affiliation: First Department of Medicine, Medical Faculty, University of Pécs, Pécs, Hungary.
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Nagy
authors.forename: Ferenc
authors.initials: F
authors.lastname: Kószó
authors.forename: Alajos
authors.initials: A
authors.lastname: Pár
authors.forename: Gabriella
authors.initials: G
authors.lastname: Emri
authors.forename: Irén
authors.initials: I
authors.lastname: Horkay
authors.forename: Margit
authors.initials: M
authors.lastname: Horányi
authors.forename: Oszkár
authors.initials: O
authors.lastname: Karádi
authors.forename: György
authors.initials: G
authors.lastname: Rumi
authors.forename: Márta
authors.initials: M
authors.lastname: Morvay
authors.forename: Viktória
authors.initials: V
authors.lastname: Varga
authors.forename: Attila
authors.initials: A
authors.lastname: Dobozy
authors.forename: Gyula
authors.initials: G
authors.lastname: Mózsik
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D006814:Hungary; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000209:etiology* / Q000503:physiopathology; D012307:Risk Factors
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins