Genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I, and ALDH2 in Spanish men: lack of association with alcoholism and alcoholic liver disease

Background/Aims The relationship between polymorphisms at the alcohol dehydrogenase 2 (ADH2), ADH3, CYP4502E1 and aldehyde dehydrogenase 2 (ALDH2) loci and the individual predisposition to alcoholism and alcoholic liver disease in Caucasians is controversial. Methods We determined the genotypes of ADH2, ADH3, CYP4502E1 (Pst-I and Dra-I) and ALDH2 in 519 male Spaniards: 264 alcoholic subjects (47 without liver disease, 118 with non-cirrhotic liver disease and 99 with cirrhosis) and 255 non-alcoholic subjects (64 healthy controls, 110 with non-cirrhotic non-alcoholic liver disease and 81 with cirrhosis unrelated to alcohol). Genotyping was performed using PCR-RFLP methods on white cell DNA. Results The distribution of the allelic variants (allele *1 and allele *2) in the whole subjects analyzed was: ADH2 93.1% and 6.9%; ADH3 55.7 and 44.3%; CYP4502E1 Dra-I 11.2 and 88.8%; CYP4502E1 Pst-I 96.2 and 3.8% and ALDH2 100 and 0%, respectively. No differences were observed in the allelic distributions of the alcoholic and non-alcoholic subjects for the loci examined. Allele distribution in alcoholics with no liver disease, with alcoholic steatosis or hepatitis, and with cirrhosis was also similar. Conclusions ADH2, ADH3, and CYP4502E1 Pst-I and Dra-I genetic variations are not related to alcoholism or susceptibility to alcoholic liver disease in our male population. ALDH2 locus is monomorphic.