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代谢酶的遗传多态性与有机溶剂中毒性脑病的风险相关性研究 被引量:1

The relationship between with toxic encephalopathy induced by genetic polymorphism of metabolic enzymes
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摘要 目的:观察与有机溶剂代谢相关酶的遗传多态性是否会影响人类溶剂性脑病(CSE)的患病率。方法研究对象包括CSE患者(n=97)和对照组(n=214)。对照组主要为社会经济背景相近的健康工人,对两组患者中与有机溶剂代谢相关酶类的基因多态性进行了观察,采用的方法为PCR-限制性片段长度多态性分析,检测的基因主要包括CYP1A1( MspI 和Ile/Val)、CYP2E(RsaI和DraI)、EPHX1(外显子3的Tyr113His和外显子4的His139Arg)、GSTM1(缺失基因型)、GSTT1(缺失基因性)以及GSTP1(GSTP1*A,GSTP1*B和GSTP1*C等位基因)。结果 CYP2E1*5B突变等位基因(OR 5.8,95%CI 1.8~18.8)和GSTP1*C突变基因(OR 0.40,95%CI 0.17~0.94)的CSE发病率更高。 EPHX1外显子4 Arg139突变等位基因纯合子的风险低(OR 0.25,95%CI 0.06~1.13)。结论 CYP2E1、EPHX1和GSTP1遗传多态性会改变发生CSE的风险。 Objective Whether genetic polymorphisms of enzymes related to metabolism of organic solvent will affect the prevalence rate of human solvent encephalopathy (CSE).Methods The present study included patients with CSE (n=97) and control individuals (n=214) which had similar social and economic background .The gene polymorphism of metabolic enzymes and organic solvent in two groups were observed .The method of restriction fragment length polymorphism ( RFLP) was used to detect the genes polymorphism including CYP1A1 (MspI and Ile/Val), CYP2E (RsaI and DraI), EPHX1 (exon Tyr113His and exon 4 His139Arg 3), GSTM1 (null genotype), GSTT1 (missing gene) and GSTP1 (GSTP1*A, GSTP1*B and GSTP1*C alleles).Results CYP2E1*5B the mutant allele (OR 5.8, 95%CI 1.8~18.8) and GSTP1*C gene mutation (OR 0.40, 95%CI 0.17~0.94) CSE correlated to a higher incidence of CSE .But EPHX1 exon 4 Arg139 mutation allele homozygous was related to low risk of CSE (OR 0.25, 95%CI 0.06~1.13).Conclusion This study suggests that CYP2E1, EPHX1 and GSTP1 genetic polymorphisms may change the risk of CSE .
出处 《中国急救医学》 CAS CSCD 北大核心 2014年第10期919-923,共5页 Chinese Journal of Critical Care Medicine
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