乙醇代谢酶基因多态性与酒精性肝病关系  

Relationship Between the Polymorphisms of Alcohol-metabolizing Enzymes and Alcoholic Liver Disease

作　　者：周文婷[1] 李景鹏[1] 崔羽[1] 王晓燕[1] 

机构地区：[1]东北农业大学生命科学与生物技术研究中心,哈尔滨150001

出　　处：《现代生物医学进展》2007年第9期1323-1324,1318,共3页Progress in Modern Biomedicine

摘　　要：目的：研究乙醇代谢酶基因ADH3、ALDH2及CYP2E1 RsaⅠ/PstⅠ位点多态性与酒精性肝病（ALD）的关系。探讨遗传因素对其易感性的影响。方法：PCR-RFLP法检测东北地区汉族男性健康者、嗜酒者及ALD患者中ADH3、ALDH2和CYP2E1的基因型并比较其基因频率。结果：ADH3和CYP2E1的两种等位基因在各组中的分布差异无统计学意义;ALDH2的两种等位基因在三组间的频率存在统计学差异,ALDH2^＊1在嗜酒及ALD组中的频率显著高于其在对照组中的频率,二组均以ALDH2^＊1/2^＊1基因型为主,未见ALDH2^＊2/2^＊2;与嗜酒者相比,ALDH2^＊2在ALD组中的频率显著提高,且均为ALDH2^＊1/2^＊2。结论：ADH3及CYP2E1 RsaⅠ/PstⅠ位点多态性与东北地区汉族男性ALD的发生无关;ALDH2^＊1是嗜酒的诱因,ALDH2^＊2/2^＊2可防止嗜酒及ALD的发生,ALDH2^＊1/2^＊2具有最高的患病风险。Objectives： To study the relationship between the polymorphisms of alcohol-metabolizing enzymes at ADH3, ALDH2 and CYP2E1 RsaⅠ/ Pst Ⅰ loci and alcoholic liver disease （ALD） and investigate the influence of genetic factors on the susceptibility to it. Methods： PCR-RFLP was used to determine the genotypes and alleles frequencies of ADH3, ALDH2 and CYP2E1 of healthy controls, alcoholics and patients with ALD male Han Chinese. Results： The frequencies of the alleles of ADH3 and CYP2E1 were similar in these groups, while the ones of ALDH2 were significantly different in each group. The frequency of ALDH2^＊1 was predominant in the alcoholics and the ALD group, in which ALDH2^＊1/2^＊1 was predominant while ALDH2^＊2/2^＊2 could hardly be detected. Compared with the alcoholics, the frequency of ALDH2^＊1 was enhanced significandy in ALD and they all were ALDH2^＊1/2^＊2. Conclusion： No association exists between the polymorphisms of ADH3 and CYP2E1 RsaⅠ / PstⅠ loci and ALD; but ALDH2^＊1 is an inducement for the development of ALD. ALDH2^＊2/2^＊2 can prevent from the development of alcoholics and ALD, while ALDH2^＊1/2^＊2 is related with the high risk of ALD.

关 键 词：乙醇代谢酶 基因多态性 酒精性 肝疾病 

分 类 号：R575.5[医药卫生—消化系统]