CYP1A1和CYP2E1基因多态性与燃煤型砷中毒发病风险关系

目的探讨CYP1A1基因和CYP2E1基因多态性与燃煤型砷中毒发病风险的关系。方法以130例燃煤型砷中毒患者为病例组, 以140名健康居民为对照组, 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测CYP1A1 Msp I、CYP2E1 Dra I和 CYP2E1 Pst I位点基因多态性, 并进行基因联合作用分析。结果CYP1A1基因 Msp I位点 m1/m1(纯合野生型) 基因型和m1/m2+m2/m2(杂合型+纯合突变型)基因型在病例组和对照组的分布频率分别为34.2%、65.8%和30.9%、69.1%; CYP2E1基因 Pst I位点 c1/c1(纯合野生型) 基因型和c1/c2+c2/c2(杂合型+纯合突变型)基因型在病例组和对照组的分布频率分别为62.6%、37.4%和57.4%、42.6%;CYP2E1基因 Dra I位点 DD(纯合野生型) 和DC+CC(杂合型+纯合突变型) 基因型在病例组和对照组的分布频率分别为58.7%、41.3%和61.4%、42.6%;上述3个多态位点各基因型在两组间的分布差异无统计学意义(P=0.341、0.574、0.972)。未发现CYP1A1 Msp I、CYP2E1 Pst I和 CYP2E1 Dra I多态位点与燃煤型砷中毒的发病风险存在统计学关联(P_校正= 0.433、0.219、0.832);上述多态位点各基因型之间未发现存在联合作用。结论CYP1A1和CYP2E1基因多态性与燃煤型砷中毒的发病风险无关。

Association of CYP1A1 and CYP2E1 gene polymorphism with risk of arsenism caused by coal-burning

ObjectiveTo detect the distribution of CYP1A1 and CYP2E1 gene polymorphisms among patients with coal burning-induced arsenism and to explore the relationship between the risk of coal burning-induced arsenism and CYP1A1 and CYP2E1 gene polymorphism.MethodsCYP1A1 and CYP2E1 genotypes were determined with polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) among 130 arsenism patients(cases) and 140 healthy people(controls).ResultsThe distribution frequencies of m1/m1and m1/m2+m2/m2 genotype ofCYP1A1 Msp I polymorphism site were 34.2% and 65.8% in cases and 30.9% and 69.1% in controls.The distribution frequencies of c1/c1 and c1/c2+c2/c2 genotype of CYP2E1 Pst I polymorphism site were 62.6% and 37.4% in cases and 57.4% and 42.6% in controls.The distribution frequencies of DD and DC+CC genotype of CYP2E1 Dra I polymorphism site were 58.7% and 41.3% in cases and 61.4% and 42.6% in controls.The distribution frequencies of all the genotypes were not significantly different between the cases and the controls(P=0.341,0.574,and 0.972).This study didn't find combined effects of CYP1A1 Msp I,CYP2E1 Pst I and CYP2E1 Dra I polymorphisms on the risk of coal burning-induced arsenism(P_adj= 0.433,0.219,and 0.832).ConclusionCYP1A1 Msp I,CYP2E1 Dra I and PstI polymorphism are not likely to associate with the risk of coal burning-induced arsenism.