汉族人群酒精性肝病ALDH2和CYP2E1基因多态性研究  

Research on the relationship between ALDH2 and CYP2E1 gene polymorphism and alcoholic liver disease in Han people

作　　者：冷爱民[1] 王德强[1] 袁伟建[1] 

机构地区：[1]湖南省长沙市中南大学湘雅医院消化科,长沙410008

出　　处：《重庆医科大学学报》2008年第9期1108-1110,共3页Journal of Chongqing Medical University

基　　金：湖南省卫生厅课题(编号:B2004-40)

摘　　要：目的:研究乙醛脱氢酶(Aldehyde dehydrogenase,ALDH)和细胞色素P4502E1(Cytochrome P4502E1,CYP2E1)基因多态性与汉族人群酒精性肝病(Alcoholic liver disease,ALD)的关系。方法:应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法检测汉族人群中对照组(45例)、ALD组(48例)、嗜酒无肝病组(38例)和非酒精性肝病组(42例)中ALDH和CYP2E1各基因型及等位基因的频率并进行比较。结果:ALDH2*1、ALDH2*22种等位基因在对照组与ALD组和非酒精性肝病组与ALD组之间的分布差异有显著性(P<0.05),在嗜酒组和ALD组中以ALDH2*1/1基因型为主。CYP2E1的c1、c2两种等位基因在ALD组与其他3组比较分布均有显著性差异(P<0.05)。结论:ALDH与CYP2E1基因多态性与ALD的发生关系密切。等位基因ALDH2*2可能是汉族人群中嗜酒和ALD的负性危险因素。B(c1/c2)型基因型在ALD发生中起着重要的作用,c2等位基因与ALD的发生有关。Objective：To explore the relationship between genetic polymorphism of ALDH2 and CYP2E1 and alcoholic liver disease（ALD） in Han people. Methods：PCR-RFLP Was used to detect the frequencies of gene types and allele of ALDH and CYP2E1 in health control group（45 cases）,ALD group（48 cases）,alcohol dependent group（38 cases） and non-ALD（NALD） group（42 cases）,and the frequencies were compared. Results：The difference of the frequencies of ALDH2＊1 and ALDH2＊2 had statistic significance between health control group and ALD group,and between in ALD group and NALD group（P〈0.05）. ALDH2＊1 was the main gene type for alcohol dependent group and ALD group. The frequency of CYP2E1 cl and c2 had statistically significant difference from the orther three groups（P〈0.05）. Conclusion：The gene polymorphism of ALDH2 has close relationship to the pathogenesis of ALD. ALDH＊2 allele may be a negative risk factor for alcoholism and ALD in Chinese Han people. The gene polymorphism of CYP2E1 has close relationship to the pathogenesis of ALD. The genotype of B（c1/c2）plays a important role in the development of ALD and c2 allele is relevant to the pathogenesis of ALD.

关 键 词：酒精性肝病 乙醛脱氢酶 细胞色素P4502E1 基因多态性 

分 类 号：R575[医药卫生—消化系统]