Alcoholism is a significant medical, social, and economic problem. Genetic polymorphism of enzymes involved in alcohol metabolism plays a relevant role in etiopathogenesis of alcohol disease and alcohol liver cirrhosis. The aim of the study was the evaluation of the influence of genetic polymorphism of CYP2E1 on the development of the alcohol abuse and alcohol liver cirrhosis the Polish population.
Material and methods: The CYP2E1 genotype and c1 and c2 alleles frequency were examined in 188 patients. Genotyping of the CYP2E1 was performed using polymerase chain reaction-restriction fragment length polymorphism method on white cell DNA.
Results: In the examined population encompassing 188 subjects the c2 allele was present only in 1.06% of patients. It was found only in patients abusing alcohol. In the group of patients with alcoholic cirrhosis it was present in 3.5% of cases. The c1/c2 genotype was present in 2.12% of subjects. The c2/c2 genotype was not found in any patient. Heterozygotes cl/c2 were present only in 7% of patients with alcohol liver cirrhosis. The c2 allele and cl/c2 genotype occurred statistically significantly more frequently in patients with alcohol cirrhosis than in control group. Patients possessing the c2 allele and cl/c2 genotype statistically significantly earlier initiated the alcohol abusing than those in which the c1 allele and c1/c1 genotype were present.
Conclusion: Our studies suggest that the frequency of allele c2 in Polish population is low, but the presence of c2 allele may be a risk factor for the alcohol liver cirrhosis.