Introduction: 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.
Objectives: 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.
Patients and 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.