Genetic polymorphisms of ADH 2, ADH 3, CYP 4502E1 Dra-I and Pst-I, and ALDH 2 in Spanish men: lack of association with alcoholism and alcoholic liver disease

• Published in: Journal of hepatology Vol. 41; no. 5; pp. 744 - 750
• Main Authors: Vidal, Francesc, Lorenzo, Alfons, Auguet, Teresa, Olona, Montserrat, Broch, Montserrat, Gutiérrez, Cristina, Aguilar, Carmen, Estupiñà, Pere, Santos, Mauro, Richart, Cristóbal
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 2004
• Subjects: Alcohol; Alcohol dehydrogenase; Alcoholic liver disease; Aldehyde dehydrogenase; Cirrhosis; Cytochrome P 4502E1; Cirrhosis; Alcohol; Alcohol dehydrogenase; Cytochrome P 4502E1; Aldehyde dehydrogenase; Alcoholic liver disease
• ISSN: 0168-8278; 1600-0641
• DOI: 10.1016/j.jhep.2003.06.003

The relationship between polymorphisms at the alcohol dehydrogenase 2 (ADH 2), ADH 3, CYP 4502E1 and aldehyde dehydrogenase 2 (ALDH 2) loci and the individual predisposition to alcoholism and alcoholic liver disease in Caucasians is controversial. We determined the genotypes of ADH 2, ADH 3, CYP 4502E1 (Pst-I and Dra-I) and ALDH 2 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. The distribution of the allelic variants (allele *1 and allele *2) in the whole subjects analyzed was: ADH 2 93.1% and 6.9%; ADH 3 55.7 and 44.3%; CYP 4502E1 Dra-I 11.2 and 88.8%; CYP 4502E1 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. ADH 2, ADH 3, and CYP 4502E1 Pst-I and Dra-I genetic variations are not related to alcoholism or susceptibility to alcoholic liver disease in our male population. ALDH 2 locus is monomorphic.