乙醇代谢酶基因多态性对酒精性肝硬化的影响

Objectives To study the relationship between polymorphisms of alcohol-metabolizing enzymes and alcoholic cirrhosis (ALC), and investigate the influence of genetic factors on the susceptibilitys to it. Methodes PCR-RFLP was used to determine the genotypes and alleles frequences of ADH3, ALDH2 and CYP2E1 of healthy controls , alcoholics without evidence of liver disease and patients with ALC in male Han Chinese. Results The frequencies of the two alleles of ALDH2 in the controls, alcoholics and ALC were significantly different, while the frequencies of the two alleles of ADH3 and CYP2E1 in the three groups were similar. Combined analysis of ADH3, ALDH2 and CYP2E1 revealed that the frequencies of the allele ALDH2*1 in alcoholics and ALC patients are much higher than that one in the controls, and the frequencies of the allele ALDH2*2 are remarkably lower in alcoholics than in ALC group. Conclusions There is no association between polymorphisms of ADH3 and CYP2E1 and ALC, the allele ALDH2*1 is an inducement for the developing of alcoholics while the allele ALDH2*2 is related with the increase risk of ALC .