title: C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.
abstract: OBJECTIVE
  To test the hypothesis that the heterozygous state for HFE gene mutations involved in the pathogenesis of hemochromatosis, that may induce an increase of hepatic iron content, may aggravate the liver damage induced by prolonged and excessive use of ethanol.
  
  
  METHODS
  C282Y and H63D mutations of HFE gene were identified through polymerase chain reaction (PCR) on leukocyte DNA, in 125 consecutive patients diagnosed of advanced alcoholic liver disease (109 men, mean age 54 years, SD 11) and 181 healthy controls. All subjects were white Spaniards. RESULTS (CASES/CONTROLS): 1. Genotype distribution: a) mutation C282Y: no homozygotes, 10/23 heterozygotes, 115/158 normal (p = 0.60); b) mutation H63D: 9/5 homozygotes, 46/52 heterozygotes, 70/124 normal (Chi square 6.51, p = 0.039). 2. Allele frequencies: a) mutation C282Y: 240/339 normal, 10/23 mutated (p = 0.21); b) mutation H63D: 186/300 normal, 64/62 mutated (odds ratio 1.66, 95% CI 1.10-2.52, p = 0.01).
  
  
  CONCLUSIONS
  Our results suggest that H63D mutation of the HFE gene, but not the C282Y mutation, is associated to the risk of developing advanced liver alcoholic disease.
authors.affiliation: Services of Hematology, Hospital Clínico San Carlos, Universidad Complutense, Madrid, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Ropero Gradilla
authors.forename: A
authors.initials: A
authors.lastname: Villegas Martínez
authors.forename: M
authors.initials: M
authors.lastname: Fernández Arquero
authors.forename: J A
authors.initials: JA
authors.lastname: García-Agúndez
authors.forename: F A
authors.initials: FA
authors.lastname: González Fernández
authors.forename: J
authors.initials: J
authors.lastname: Benítez Rodríguez
authors.forename: M
authors.initials: M
authors.lastname: Díaz-Rubio
authors.forename: E G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: J M
authors.initials: JM
authors.lastname: Ladero Quesada
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008108:Liver Diseases, Alcoholic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA