CYP1A1和CYP2E1基因多态性与燃煤型砷中毒发病风险关系  

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

作　　者：梁冰[1,2] 曹家艳[1] 张爱华[1,2] 

机构地区：[1]贵州医科大学毒理学教研室,贵州贵阳550025 [2]环境污染与疾病监控省部共建教育部重点实验室

出　　处：《中国公共卫生》2015年第10期1313-1316,共4页Chinese Journal of Public Health

基　　金：国家自然科学基金(30960337;30460123);贵州省基金(黔科合人才团队20124003);贵州省优秀科技教育人才省长专项基金(黔省专合字[2008]57号);贵州省科学技术基金(黔科合J字[2008]2276号)

摘　　要：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(PCRRFLP)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。Objective To 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. Methods CYP1A1 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）. Results The distribution frequencies of ml/mland ml/m2 ＋ m2/m2 genotype of CYP1A1 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（ Padj = 0. 433,0. 219, and 0. 832 ）. Conclusion CYP1A1 Msp I, CYP2E1 Dra I and Pst I polymorphism are not likely to associate with the risk of coal burning-induced arsenism.

关 键 词：砷中毒 煤 CYP1A1基因 CYP2E1基因 基因多态性 

分 类 号：R994.2[医药卫生—毒理学]