Background/Aims : There is a great deal of evidence for genetic predisposition to alcogolism, but comsiderably less is known regarding predisposition to alcoholic liver diseasc(ALD) . The aim of this stydy was to determine the genetic polymorphisms of cytochrome P4502E1 in koreans and evaluate its relation to the development of ALD. Methods : Genotype of P4502E1 was determinde by Rsa I and Pst I RFLP patterns of PCR product of P4502E1 gene in 27 male patients with determioned by Rsa I and Pst I RFLP patterns of PCR product of P4502E1 gene in 27 male patients with ALD and 33 make cintrols. And genotype of acetaldehyde dehydrogenase 2(ALDH2) was determined by PCR and hybridization with allele specific oligonucleotide probes. Results : The prevalence of genotypes of P4502E1 was 54.4%(type A) , 45.5%(type B) in 33 normal controls and 51.9%(type A), 44.4%(type B) and 3.7%(type C) in 27patients with ALD. There was no significant difference in the prevalence of genotypes and allele frequency of P4502E1 between ALD and control groups. Niceteen cases(57.6%) in control group and all of the ALS group had homozygotic normal ALDH2 gene. In the cases homozygous for normal ALDH2 gene, there was no significant difference in genotypes and alle frequency of P4502E1 between ALD and control groups. Conclusion : The prevalence of genotypes and allele frequency of P4502E1 in Koreans were similiar to those in Japanese of Chinese population. It may be suggested that the Rsa I and Pst I polymorphism of P4502E1 gene is not associated with susceptibility to ALD. (Korean J Gastroenterol 1997; 26:645-650)

KeywordsAlcohol, Cytochrome P4502E1, Acetaldehyde dehydrogenase 2, Genotype