Association studies of polymorphisms of CYP2E1 gene in alcoholics with cirrhosis, antisocial personality, and normal controls.

To determine the role of CYP2E1 gene in susceptibility to alcoholism and alcohol cirrhosis, we gentoyped a sample of alcoholics with and without cirrhosis, alcoholics with antisocial personality, alcoholic families, and normal controls with RsaI, PstI, and DraI polymorphisms in the gene. Relative risk and haplotype relative risk approaches were used in genotype data analysis. The PstI polymorphism data were excluded from further analysis due to strong linkage disequilibrium with RsaI. For the RsaI polymorphism, comparison of total alcoholics, alcoholics with and without cirrhosis, and alcoholics with antisocial personality with normal controls were negative. The results of the same analysis with the above groups for DraII were also negative. Using the haplotype relative risk method, the result for DraI was positive, meaning that the mutated allele (D2) was significantly more transmitted than nontransmitted. However, the result of the same analysis for the RsaI polymorphism was not statistically significant. We conclude that the CYP2E1 gene plays no substantial role in susceptibility to alcohol cirrhosis or alcoholism.