title: The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.
abstract: OBJECTIVE
  To investigate the role of C282Y and H63D mutations, and hepatitis C virus (HCV) infection in the pathogenesis of porphyria cutanea tarda (PCT).
  
  
  METHODS
  Prospective case-control study.
  
  
  METHODS
  A large clinical and research institute for the study and treatment of cutaneous diseases in Barcelona, Spain.
  
  
  METHODS
  Ninety-nine consecutive patients with PCT and one hundred and twenty-six control patients (76 healthy subjects and 50 patients chronically infected with HCV), were recruited.
  
  
  METHODS
  The frequency of the C282Y and H63D mutations in patients with PCT vs. controls and the relationship of these mutations with HCV infection, and iron status, as judged by serum iron, liver iron and ferritin levels.
  
  
  RESULTS
  C282Y mutation was significantly increased in PCT patients. This mutation was more frequent among non-HCV-infected patients. Increased ferritin levels and hepatic iron overload were also observed in PCT patients with heterozygous C282Y state. H63D mutation was only significantly increased among PCT patients with chronic hepatitis C infection. No significant iron overload was observed in patients with H63D mutation.
  
  
  CONCLUSIONS
  This study confirms the high frequency of C282Y mutation in patients with PCT and its relationship with iron overload. The C282Y mutation has a relevant role in Spanish patients with PCT not associated with HCV chronic infection. On the other hand, the prevalence of the H63D mutation seems not to be increased in patients with PCT. The possibility of an association between HCV infection and H63D mutation in inducing PCT can be hypothesized.
authors.affiliation: Department of Dermatology, Hospital Clinic, University of Barcelona, Spain. 30632ata@comb.es
authors.forename: A
authors.initials: A
authors.lastname: Toll
authors.forename: R
authors.initials: R
authors.lastname: Celis
authors.forename: M D
authors.initials: MD
authors.lastname: Ozalla
authors.forename: M
authors.initials: M
authors.lastname: Bruguera
authors.forename: C
authors.initials: C
authors.lastname: Herrero
authors.forename: M G
authors.initials: MG
authors.lastname: Ercilla
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D000071020:Hemochromatosis Protein; D019698:Hepatitis C, Chronic / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence; D013030:Spain / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins