Background/aims: Because heavy drinkers do not always develop alcoholic liver disease (ALD), genetic factors may be involved. Cytochrome P4502E1 is the main enzyme that oxidizes ethanol in the non-alcohol dehydrogenase pathway. Recently, the presence of genetic polymorphisms of this enzyme was confirmed. In the present study, the genotypes of P4502E1 were analyzed in patients with or without ALD.
Methods: After extraction of DNA from white blood cells, genotypes of P4502E1 were determined by restriction fragment length polymorphisms using two endonucleases. The genotypes were separated into three types: type A, type C (homozygous for the c1 or c2 gene), and type B (heterozygous for both genes).
Results: In 50 patients with ALD, the prevalence of type A was 16% and that of the c2 gene was 84%. The genotypes in 10 heavy drinkers without ALD were all type A. In 34 patients with non-alcoholic liver disease and in 88 patients without hepatobiliary disease, the prevalence of type A was 65% and 71%, respectively, indicating a significantly higher prevalence of the c2 gene in ALD. In healthy nonalcoholics, the prevalence of type A was 62%-68%.
Conclusions: These results suggest that polymorphisms of P4502E1 may be related to the development of ALD.