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采用1∶2配对病例-对照研究的方法,应用PCR-RFLP技术,分析与比较了200例汉族职业性慢性锰中毒病例与400例汉族对照的CYP2E1基因D raI位点的基因多态性。结果显示,CYP2E1基因D raI位点D等位基因在对照组和病例组中的分布频率分别为59.8%和78.5%,差异有统计学意义(2χ=41.778,P=0.000,OR=2.46,95%CI=1.86~3.25);具有DD基因型的个体发生职业性慢性锰中毒的危险性与具有非DD基因型的个体相比升高了2.83倍(OR=3.83,95%CI=2.63~5.57,P<0.05)。提示CYP2E1基因可能是职业性慢性锰中毒的易感基因,携带CYP2E1基因型DD者可能增加职业性慢性锰中毒的危险性。
PCR-RFLP technique was used to analyze and compare the genetic polymorphism of D raI site of CYP2E1 gene in 200 cases of chronic occupational manganese poisoning in Han nationality and 400 cases of Han nationality in a 1: 2 matched case-control study. The results showed that the distribution frequency of D allele in D raI site of CYP2E1 gene in control group and case group was 59.8% and 78.5%, respectively, with statistical significance (2χ = 41.778, P = 0.000, OR = 2.46, 95 % CI = 1.86-3.25). The risk of occupational chronic manganese poisoning in individuals with DD genotype increased by 2.83-fold (OR = 3.83, 95% CI = 2.63-5.57) compared with those with non-DD genotype , P <0.05). It is suggested that CYP2E1 gene may be a susceptible gene for occupational chronic manganese poisoning and CYP2E1 genotype DD may increase the risk of occupational chronic manganese poisoning.