摘要目的 探讨谷胱甘肽硫转移酶GSTO 1基因Glu155△Glu位点多态性与贵州省燃煤污染型地方性砷中毒发生的关系.方法 采用双相引物-聚合酶链反应(polymerase chain reaction-with confronting twopair primers,PCR-CTPP)技术检测贵州省130例燃煤污染型地方性砷中毒患者和130例健康对照人群的GSTO1 Glu155△Glu基因型,DNA测序验证检测结果.用非条件Logistic回归模型分析GSTO1 Glu155△Glu多态性与燃煤污染型砷中毒发病风险的关系.结果 PCR-CTPP法检测出的Glu/Glu和Glu/△Glu基因型结果与DNA测序结果一致.砷中毒组GSTO1 Glu155△Glu位点Glu/Glu和Glu/△Glu基因型分布频率分别为94.85％(92/97)和5.15％(5/97),对照组分别为99.15％(117/118)和0.85％(1/118),二者比较差异有统计学意义(x2=3.896,P＜0.05),两组均未检测到△Glu/△Glu基因型,调整年龄和性别后发现GSTO1 Glu155△Glu的多态性是燃煤污染型砷中毒发病的危险因素[比值比(OR)=1.85,95％可信区间(CI):1.39～17.48].结论 GSTO1 Glu155△Glu多态性与燃煤污染型砷中毒的发病风险有一定关联,两者之间的关系值得进一步扩大样本量进行深入研究.

abstractsObjective To investigate glutathione S-transferase GSTO 1 Glu155△Glu genetic polymorphism and risks of arsenic poisoning caused by coal-burning in Guizhou.Methods GSTO1 Glu155 △Glu gene polymorphism was analyzed by polymerase chain reaction-with confronting two-pair primers among one hundred and thirty arsenic poisoning patients and one hundred and thirty healthy controls.The results were verified by DNA sequencing.The association between different genotypes and arsenic poisoning was analyzed by unconditional Logistic regression model.Results The results of Glu/Glu and Glu/△Glu genotype detected by this method were consistent with those of DNA sequencing.The frequencies of GSTO1 Glu/Glu genotype and Glu/△Glu genotype were 94.85％(92/97) and 5.15％(5/97) in the patients,99.15％(117/118) and 0.85％(1/118) in the controls,respectively.The difference was statistically significant(x2 =3.896,P ＜ 0.05).△Glu/△Glu genotype was not found in both patients and controls.After age and sex adjusting,GSTO1 Glu155 △Glu polymorphism was found to be a risk factor of arsenic poisoning [odds ratio (OR) =1.85,95％ confidence interval (CI):1.39 - 17.48].Conclusions The study finds that GSTO1 Glu 155 △ Glu polymorphism is associated with risk of arsenic poisoning.The relationship between them should be further studied through increasing sample size.