云南彝族人群CYP2E1基因多态性与酒依赖的关联性研究

目的：探讨云南彝族人群中的酒精依赖患者和云南彝族人群中健康人在CYP2E1基因的一个SNP（Rs3813867）的等位基因和基因型频率的不同，试图找出酒依赖的危险基因，比较它与其他人群之间在CYP2E1PstI位（rs3813867）基因多态性的不同。方法：对110个酒精依赖者和330名健康的志愿者不喝酒（对照组）的CYP2E1PstI位的多态性，等位基因频率和基因型频率进行测定。采用PCR—RFLP方法进行基因分型。结果：CYP2 E1 Psfl位的多态性，等位基因频率和基因型频率是相似的在酒精依赖者和对照组（72．7％vs72．1％，C1／C1），（25．5％vs25．8％，C1／C2），（1．8％vs2．1％为C1／C2）和（85．5％vs85％c1的），（14．5％VSl5％为c2）。结论：CYP2E1的基因型和等位基因分布在酒精依赖组和对照组之间没有显着性差异（P〉0．05），在这两个民族在AD组和对照组基因型分布有差异（P〈0．001）。

Genetic Polymorphisms of CYP2E 1 Association with Alcohol Dependence in Yi Population in Yunnan

Objective： To investigate the differences in the allele and genotype frequency of the polymorphism CYP2E1 PstI （rs3813867） between the alcohol-dependent individuals and the controls among Yi population in Yunnan province and try to discover the dangerous gene of alcohol dependence and secondly to compare it with other populations. Methods： The allele and genotype frequencies of the polyrnorphism CYP2E1 PstI were determined in 110 alcohol-dependent individuals and 330 healthy volunteers who do not drink alcohol （control group）. Genotyping was performed by PCR-RFLP methods on white cell DNA. Results： The allele and genotype fre- quencies of the polymorphism CYP2E1 PstI were similar with that in the alcohol-dependent individuals and the control group （72.7% vs 72.1%for c1/c1）, （25.5% vs 25.8% for c1/c2）, （1.8% vs 2.1% for c1/c2） and （85.5% vs 85% for c1）, （14.5% vs 15% for c2）. Conc1usion： Dif- ferences in the CYP2E1 allele and genotype distribution between the alcohol-dependent group and the control group were not signifi- cant（P〉0.05）. There was no difference for allele frequencies of AD group and control group in two nations （P〉0.05）, while there was difference in genotype distribution of AD group and control group in two nations （P〈0.001）.