ADH2基因多态性与酒精性心肌病关系的研究

目的研究ADH2基因多态性与酒精性心肌病的关系。方法采用前瞻性研究，随机选择56例正常人和64例嗜酒的非酒精性心肌病及非酒精性肝病患者及82例酒精性心肌病患者为研究对象，应用聚合酶链反应限制性片段长度多态性方法检测ADH2基因多态性。结果嗜酒组和酒精性心肌病组ADH2＊1／-k1及ADH2＊1／＊2型频率高于对照组（P〈0．05），而ADH2＊2／＊2型频率低于对照组（P〈0．05）。同时，嗜酒组和酒精性心肌病组ADH2＊1等住基因的频率高于对照组（P〈0.05），而ADH2＊2等位基因的频率低于对照组（P〈0.05）。嗜酒组和酒精性心肌病组ADH2基因型频率无统计学差异，等住基因的频率亦无统计学差异。结论ADH2基因多态性与嗜酒相关。与酒精性心肌病发生的关系未得到证实。

Relationship between genic polymorphism of alcohol dehydrogenase 2 and alcoholic cardiomyopathy

[Objective] To reveal the associations of the Polymorphism of ADH2 with alcohol dependence and alcoholic cardiomyopathy. [Methods] In this study, ADH2 polymorphism were examined in 56 controls and 56 patients with alcohol dependence and 82 patients with alcoholic cardiomyopathy. Polymerase chain reaction-restricted fragments length polymorphism was used to determine genotypes of ADH2. [Results] The genotype frequency of ADH2*1/*1 and ADH2*1/*2 between alcoholic cardiomyopathy group and alcohol dependent group was significantly higher than those in controls. The genotype frequency of ADH2*2/*2 in alcoholic cardiomyopathy group and alcohol dependent group was significantly lower than that in controls. The allele frequency of ADH2*1 between alcoholic cardiomyopathy group and alcohol dependent group was significantly higher than that in controls and the allele frequency of ADH2*2 betwee alcoholic cardiomyopathy group and alcohol dependent group was significantly lower than that in controls. The genotype and allele frequency of ADH2 in alcoholic cardiomyopathy group and alcohol dependent group were no difference. [Conclusion] The allele of ADH2*1 may play a role in alcohol dependent patient in Han ethnic population. The relationship of the Polymorphism of ADH2 with alcoholic cardiomyopathy was not confirmed.