GSTO基因多态性与燃煤污染型砷中毒易感性的关系

[目的]探讨GSTO基因多态性与燃煤污染型砷中毒易感性的关系.[方法]应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测130名燃煤型砷中毒患者和140名健康个体GSTO1 Ala140Asp和GSTO2Asn142Asp基因两个位点的多态性,并分析不同基因型与砷中毒发病风险的关系.[结果]病例组中携带GSTO2 142Asn/Asp Asp/Asp(杂合型 突变纯合型)基因型个体的比例显著高于对照组,携带该基因型的个体较携带GSTO2 142Asn/Asn(野生纯合型)基因型个体发生砷中毒的风险升高1.18倍(ORadj=1.18,95%CI:1.02～1.37);而病例组中携带GSTO1140Ala/Asp Asp/Asp(杂合型 突变纯合型)基因型个体的比例仅略高于对照组,差异无统计学意义(ORadj=0.98,95%CI:0.51～1.91);但同时携带GSTO1 140Ala/Asp Asp/Asp和GSTO2 142Asn/Asp Asp/Asp基因型的个体砷中毒的发病风险显著增加(ORadj=2.48,95%CI:1.14～5.40).[结论]携带GSTO2Asn142Asp基因型个体有较高的砷中毒发病风险;而同时携带GSTO1 140Ala/Asp Asp/Asp和GSTO2 142Asn/Asp Asp/Asp的个体可能更容易发生砷中毒.

Genetic Polymorphisms in Glutathione S-transferase Omega and Susceptibility of Arsenism Caused by Coal-burning

[Objective] To investigate the relationship between genetic polymorphisms in GSTO and susceptibility of arsenism caused by coal-burning. [Methods] GSTO1 Ala140Asp, GSTO2 Asnl42Asp gene polymorphisms were analyzed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism technique (PCR-RFLP) among one hundred and thirty arsenism patients and one hundred and forty healthy controls. Relationship between genotype and the risk of arsenism was also analyzed. [Results] The proportion of GSTO2 142 Asn/Asp Asp/Asp genotype in case group was higher than that of control group. There was a 1.18-fold increase risk of arsenism for individuals carrying GSTO2 142 Asn/Asp Asp/Asp genotype(ORadj=1. 18, 95% CI: 1.02-1.37)compared with individuals carrying 142Asn/Asn allele. The proportion of GSTO1 140Ala/Asp Asp/Asp genotype was slightly higher in case group compared with control group, but the difference was not statistically significant(ORadj=0.98, 95% CI: 0.51-1.91). However, the incidence of arsenism risk was significantly increased for individuals carrying both GSTO1 140 Ala/ Asp Asp/Asp and GSTO2 142Asn/Asp Asp/Asp genotype(ORadj=2.48, 95% CI: 1.14-5.40). [Conclusion] The results of this study suggest that individuals carrying GSTO2 142 Asn/Asp Asp/Asp genotype have high risk of arsenism . Individuals carrying both GSTO1 140Ala/Asp Asp/Asp and GSTO2 142 Asn/Asp Asp/Asp genotype may be more vulnerable to arsenic intoxication.