title: HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland.
abstract: BACKGROUND
  Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein. It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification.
  
  
  OBJECTIVE
  The aim of the study was to determine the prevalence of C282Y and H63D mutations in patients with ALD and healthy individuals and to analyze laboratory data in the context of HFE gene mutation in ALD patients.
  
  
  METHODS
  We analyzed 119 patients with ALD. The control group comprised 1516 DNA samples obtained either from cord blood or healthy subjects from the records of general practitioners. HFE mutations were detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
  
  
  RESULTS
  Among the ALD patients, 0.84% were homozygous and 3.36% were heterozygous for the C282Y mutation, while 5.04% were homozygous and 21.85% heterozygous for the H63D mutation. There was 1 C282Y/H63D compound heterozygote in the ALD group. In the control group, 2 homozygotes and 117 heterozygotes for the C282Y mutation were identified. As for the H63D mutation, 2.5% homozygotes, 25% heterozygotes, and 1.4% compound heterozygotes were found. There was a trend towards a more common occurrence of ALD patients homozygous for the H63D mutation. Patients with H63D genotype had higher total and low-density lipoprotein cholesterol.
  
  
  CONCLUSIONS
  The prevalence of HFE mutations in ALD patients is similar to that observed in healthy subjects and comparable to the prevalence in other Central European countries. Our findings on lipid disturbances in the H63D heterozygotes are potentially interesting and require further studies on larger patient groups.
authors.affiliation: Liver Unit, Pomeranian Medical University, Szczecin, Poland. jorasz@sci.pam.szczecin.pl
authors.forename: Joanna
authors.initials: J
authors.lastname: Raszeja-Wyszomirska
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Iwona
authors.initials: I
authors.lastname: Zawada
authors.forename: Janina
authors.initials: J
authors.lastname: Suchy
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Piotr
authors.initials: P
authors.lastname: Milkiewicz
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008108:Liver Diseases, Alcoholic / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins