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目的探讨GSTT1、GSTM1基因多态性与饮水型地方性砷中毒易感性的关系。方法对新疆砷中毒病区慢性砷中毒患者96例、病区内对照组73人以及非病区外对照组89人,应用聚合酶链反应(PCR)技术进行GSTT1、GSTM1基因多态性的检测,分析不同基因型与砷中毒发病风险的关系。结果 GSTT1、GSTM1基因型在3组间的分布,差异无统计学意义;GSTT1和GSTM1基因多态性在不同砷暴露人群中的发病风险,差异均无统计学意义(χ2=1.483,P=0.476;χ2=1.852,P=0.396);GSTT1(+)+GSTM1(+)、GSTT1(+)+GSTM1(-)以及GSTT1(-)+GSTM1(+)基因型在3组间的构成比,差异均无统计学意义(χ2=0.05,P=0.975;χ2=5.841,P=0.054;χ2=1.887,P=0.387);病例组中GSTT1(-)+GSTM1(-)的构成比(38.9%)明显高于外对照组(22.5%)(χ2=5.828,P=0.016);砷中毒人群表现GSTT1(-)+GSTM1(-)基因型是健康人群的1.733倍(OR=1.733,95%CI=1.093～2.748)。结论 GSTT1、GSTM1基因可能与新疆奎屯饮水型地方性砷中毒无关联,但是GSTM1空白基因型频率在砷中毒人群中有升高趋势;GSTT1与GSTM1基因联合空白型可能与饮水型地方性砷中毒有关联。
Objective To investigate the relationship between genetic polymorphisms of GSTT1 and GSTM1 and endemic arsenism susceptibility to drinking water. Methods Ninety-six patients with chronic arsenism in Xinjiang arsenic poisoning area, 73 in the control group and 89 in the non-diseased area were enrolled. The genetic polymorphisms of GSTT1 and GSTM1 were detected by polymerase chain reaction (PCR) , Analyze the relationship between different genotypes and the risk of arsenic poisoning. Results There was no significant difference in the distribution of GSTT1 and GSTM1 genotype among the three groups. The risk of GSTT1 and GSTM1 gene polymorphism in different arsenic exposure groups was not significantly different (χ2 = 1.483, P = 0.476 ; χ2 = 1.852, P = 0.396); The proportions of GSTT1 (+) + GSTM1 (+), GSTT1 (+) + GSTM1 (-) and GSTT1 (-) + GSTM1 (Χ2 = 0.05, P = 0.975; χ2 = 5.841, P = 0.054; χ2 = 1.887, P = 0.387). The proportion of GSTT1 (-) + GSTM1 (-) in the case group was 38.9% (Χ2 = 5.828, P = 0.016). The genotype of GSTT1 (-) + GSTM1 (-) in patients with arsenism was 1.733 times more than healthy controls (OR = 1.733, 95% CI = 1.093 ~ 2.748). Conclusions GSTT1 and GSTM1 genes may not be associated with drinking water endemic arsenism in Xinjiang Kuitun, but the frequency of GSTM1 blank genotypes is increasing in arsenic poisoning population. The combination of GSTT1 and GSTM1 may be related to drinking water endemic arsenism Associated.