乙醇依赖综合征与ADH2、CYP4502E1基因多态性的相关研究

Research on the Relationship Between ADH2,CYP2E1 Gene Polymorphism and Alcohol Dependence Syndrome

目的对云南汉族酒依赖综合征与ADH2、CYP4502E1基因多态性进行相关性研究;方法采用PCR-RFLP方法,对来自云南地区的44例乙醇依赖综合征患者以及与其配比的30例对照个体的ADH2基因第3外显子处G143A单核苷酸多态位点等位基因频率和基因型频率、CYP2E1基因5′端非编码区的RsaI/PstI酶切位点多态性等位基因频率和基因型频率以及是否与乙醇依赖综合征相关进行分析。结果(1)在患者组ADH2基因3种基因型ADH2*1/*1、ADH2*1/*2、ADH2*2/*2分别为36%、43%、21%,患者组和对照组相比较无显著差异(P>0.05);等位基因ADH2*1和ADH2*2在患者组中的基因频率为0.58和0.42,患者组和对照组相比较分布有差异(P<0.05),患者组ADH2*2等位基因频率降低;(2)CYP2E1基因在患者组中A、B型基因分布为59%、41%,患者组和健康对照组两种基因型的分布有差异(P<0.05),B型基因在乙醇依赖组升高;等位基因c1和c2在患者组中的频率为0.80和0.20,患者组和对照组两种等位基因分布有差异(P<0.05),患者组c2等位基因频率升高。结论CYP2E1基因多态性与乙醇依赖综合征发生有关,ADH2*2等位基因对于乙醇依赖综合征发病有保护作用,而c2等位基因在乙醇依赖综合征的发生中起一定的作用。

Objective To investigate the association of polymorphism of genes ADH2, CYP4502E1 with alcohol addiction in Han people. Methods PCR - RFLP were performed to analyze the genotype and allele frequencies of ADH2 gene and CYP2E1 gene in 44 alcoholic dependence cases and 30 normal which is from YunNan Province. Results We found that the distribution frequency of ADH2^＊ 1/^＊1 ,ADH2^＊1/^＊2,ADH2 ^＊ 2/^＊2 genotypes were 36% , 43% , 21% in patients with alcohol dependence syndrome. The frequency of genotype has no statistic significance（P 〉 0.05 ）. The frequency of ADH2^＊1 allele and ADH2^＊2 allele were 0. 58 and 0. 42 in alcohol dependence group. The frequency of ADH2^＊1 allele and ADH2^＊2 allele has statistic significance （P 〈 0.05 ）. The frequency of ADH2^＊2 allele in alcohol dependence group is lower than another group. The frequency of genotypes of CYP2E1 in alcohol dependence patients, A and B genotypes were 59% , 41%. The frequency has difference in alcohol dependence group compared with health control group （P 〈 0. 05 ）. Type B was higher in alcohol dependence group. The frequency of c1 allele and C2 allele were 0.80 and 0.20 in alcohol dependence group. There is statistic significance of C2 allele in alcohol dependence group and health control group （P 〈 0.05）. Conclusions The frequency of C2 allele in alcohol dependence group is higher than another group. The results reveal that susceptibility to alcohol dependence syndrome may be associated with the polymorphism of CYP2E1 gene, and c2 allele may be related to the mobility of alcohol dependence syndrome. ADH2^＊2 allele may be a protective factor to alcohol dependence syndrome.