Cytochrome P450 2E1 (CYP2E1) is one of the enzymes involved in the oxidative metabolism of ethanol via the non-alcohol dehydrogenase system through the microsomal ethanol-oxidizing system. It is induced in liver by excessive alcohol consumption, producing high amounts of acetaldehyde in liver cells.

In order to determine whether there is an association between some genetic polymorphisms in CYP2E1 and pathogenesis of alcoholic acute hepatitis (AAH), we investigated the presence of mutations Rsa I and Pst I restriction sites in the 5’ flanking region of CYP2E1 leading to c1 and c2 alleles in the following 90 Spanish patients with liver disease: GROUP 1: Non-alcoholic patients (N=40); GROUP 2: Alcoholic patients without AAH (N=24); GROUP 3: Alcoholic patients with AAH (N=26). Criteria for alcoholism were an ingestion of alcohol higher than 80 g/day during the last 5 years.

DNA were obtained from liver biopsies and mutations were tested by PCR amplification followed by Single Nucleotide Polymorphisms (SNP’s) approach in both regions of CYP2E1.
The investigated mutations were not found in homozygosis. The genotype and allele frequencies of variants c1 and c2 are illustrated in TABLES 1 and 2 respectively.

The results show a higher frequency of c2 allele in GROUP 3 than in GROUPS 1 and 2. As c2 allele has been considered to relate to higher enzyme activity in the liver, these preliminary results suggests an important role of CYP2E1 mutations in the development of AAH .