谷胱甘肽硫转移酶M1和T1基因多态性与燃煤型砷中毒发病的关系

目的探讨谷胱甘肽硫转移酶M1和T1（GSTM1、GSTT1）基因多态性与燃煤污染型砷中毒发病风险的关系。方法采用多重等位基因特异聚合酶链反应技术检测贵州省130名燃煤型砷中毒患者及140名健康个体的GSTM1和GSTT1基因多态性，并分析不同基因型与砷中毒发病的关系。结果砷中毒病例组和对照组GSTT1纯合缺失基因型（GSTT1^（-/-））的频率分别为58．5％和45．0％，组间比较差异有统计学意义（Х^2=6．246，P〈0．05）；携带GSTT1^（-/-）基因型个体发生砷中毒的风险是携带GSTT1非纯合缺失基因型（GSTT1^（＋/＋）or（-/-））个体的2．18倍比值比（OR）adj=2．18，95％可信区间（CI）：1．183～4．018]。砷中毒病例组和对照组间GSTM1纯合缺失基因型（GSTM1^（-/-））频率的差异无统计学意义（P〉0．05）。基因型联合分析显示：携带GSTM1^（-/-）和GSTT1^（-/-）联合基因型的个体，其砷中毒的发病风险显著增加（ORadj=2．931，95％CI：1．024～8．387）。结论GSTT1^（-/-）基因型可能是燃煤型砷中毒发生的重要危险内因之一。

Relationship between genetic polymorphisms in glutathione S-transferase M1, T1 and arsenic poisoning caused by coal-burning

Objective To investigate genetic polymorphisms in GSTM1, GSTT1 and risks of arsenic poisoning caused by coal-burning in Guizhou, China. Methods GSTM1 , GSTT1 gene polymorphisms were analyzed by multiple polymerase chain reaction among one hundred and thirty arsenic poisoning patients and one hundred and forty healthy controls. The association between different genotypes and arsenic poisoning was analyzed. Results The frequencies of GSTT1 null genotype was 58.5%, 45.0% in the patients and controls (x2 = 6.246,P< 0.05), repectively. There were 2.18 times of risks of arsenic poisoning for individuals carrying GSTT1 null genotype (ORadj= 2.18, 95%CI:1.183 ~ 4.018). There was no significant difference in the frequencies of GSTM1 null genotype between patients and controls. Individuals carrying both GSTM1 and GSTT1 null genotype were at high risks of arsenic poisoning (ORadj = 2.931, 95%CI: 1.024 ~ 8.387). Conclusions The results of this study suggest that GSTT1 null genotype plays an important role in the occurrence of arsenic poisoning.