In order to elucidate the possible relationship of genetic variants ADH2*2 and ADH2*3 of alcohol dehydrogenase 2 (ADH2) and ALDH*2 of mitochondrial aldehyde dehydrogenase (ALDH2) with alcohol sensivity and any possible association with development of alcohol liver disease, we have investigated the presence of mutations R47H (ADH2*2 ) and R369C (ADH2*3) of ADH2 and E487K (ALDH2*2) of ALDH2 in 90 Spanish patients with liver disease in order to determine the prevalence of mutated enzymes and any association between genetic mutations and alcoholic acute hepatitis (AAH).

Mutations in ADH2 and ALDH2 were tested by PCR amplification followed by Single Nucleotide Polymorphisms (SNP’s) approach in the following groups, taking as a basis the liver biopsy and alcohol consumption: GROUP 1: Non-alcoholic patients; GROUP 2: Alcoholic patients without AAH; GROUP 3: Alcoholic patients with AAH. Criteria for alcoholism were an ingestion of alcohol higher than 80 g/day during the last 5 years.

These results show that the mutations analysed are not involved in AAH, since there are not significant differences between groups. Additionally, these results suggest further studies to elucidate the role of R369C mutation in the protector effect against alcohol consumption.

Genotype and allele frequencies are shown in Tables 1 and 2, respectively.