CYP2E1和GSTM1多态性与再生障碍性贫血遗传易感性研究

目的探讨CYP2E1和GSTM1基因多态性与再生障碍性贫血(简称再障)遗传易感性的关系。方法采用聚合酶链反应(PCR)和PCR—限制性片段长度多态性方法(PCR-RFLP)分别研究104例再障患者和110名健康对照的GSTM1和CYP2E1的PstⅠ基因型。结果CYP2E1(c1c2,c2c2)基因型在再障组和对照组的频率分别为49.04%、46.36%,差异无统计学意义(P>0.05);GSTM1(-)基因型在再障组和对照组的频率分别为75.96%、48.18%,差异有统计学意义(P<0.05),联合分析时发现,CYP2E1(c1c2,c2c2) GSTM1(-)基因型的个体患再障危险性升高比值比(OR)=10.56,95%可信区间(CI)=4.34~22.87];工作和生活环境质量较差和饮酒是再障发生的危险因素。结论CYP2E1(c1c2,c2c2) GSTM1(-)基因型可能是再障遗传易感性标志物,携带该基因型的个体患再障的危险性高于其他基因型。

The relationship between CYP2E1,GSTM1 genetic polymorphisms and susceptibility to aplastic anemia

Objective To study the relationship of genetic polymorphisms of cytochrome P4502E1(CYP2E1) and glutathione S-transferase M1(GSTM1) with genetic susceptibility of aplastic anemia(AA). Methods The genotypes of CYP2E1 and GSTM1 in 104 patients with AA and 110 healthy controls were detected by polymerase chain reaction(PCR) and PCR-restriction fragment length polymorphism(RFLP). Results The frequencies of CYP2E1(c1c2,c2c2) in AA and control groups were 49.04% and 46.36% respectively,there was no significant different between them(P>0.05). The frequency of GSTM1(-) genotype in patients was 75.96%,which was significantly different from the controls(48.18%,P<0.05).The incidences of CYP2E1(c1c2,c2c2) and GSTM1(-) combined genotype increased the risk for AA odds ratio(OR)=10.56,95% confidence interval(CI)=4.34-22.87].Bad working and living environment and drinking were the risk factors of AA. Conclusions The CYP2E1(c1c2,c2c2) GSTM1(-) genotypes increase remarkably the risk for AA,and this genotype may be the biomarker of susceptibility to AA.