CYP2E1 5′侧翼区基因多态性与职业性锰中毒易感性病例对照研究

目的]探讨CYP2E1 5′侧翼区基因多态性与职业性慢性锰中毒易感性的关系。方法]本研究以51例职业性锰中毒患者为病例,以相同环境锰暴露而未发病、匹配条件相当者为对照,进行1∶1配对病例-对照研究,应用PCR-RFLP方法进行CYP2E1 5′侧翼区基因PstI/RsaI位点和DraI位点多态性分析。结果]CYP2E1基因RsaI位点基因型及等位基因的分布在病例组和对照组之间差异无统计学意义。CYP2E1DraI位点基因型分布在病例组和对照组有差别。CYP2E1基因DraI位点野生型纯合子(DD)在病例组的分布明显高于对照组,突变型纯合子(CC)在病例组的分布明显低于对照组。结论]携带野生型CYP2E1基因者,其DraI位点更易突变,对锰的神经毒性可能更敏感,推测CYP2E1基因的多态性可能与锰中毒的易感性有关。

Case Control Study of Genetic Polymorphism of Cytochrome P4502E1 5'(CYP2E1 5')and Susceptibility of Occupational Manganism

Objective] To investigate the relationship between genetic polymorphism of cytochrome P4502E1 5'(CYP2E1 5')and susceptibility to manganism.Methods]51 patients with manganism and 51 healthy controls were recruited into this population based case-control study.PCR and RFLP were used to analyze the CYP2E15's side gene Pst I/Rsa I and Dra I polymorphism,SPSS 10.0 statistics software was used to analyze the difference of the distribution of the two groups'CYP2E1 gene's Pst I/Rsa I and Dra I genotype.Results]There was no statistically significant difference in the distribution of the Rsal I genotype and allele frequencies of CYP2E1 gene between the case and the control group,and there was significant difference in the distribution of the Dra I genotype.The frequency of the homozygous genotype wildness(DD)in the cases was significantly higher than that in the controls.The frequency of the homozygous genotype mutation(CC)in the cases was significantly lower than that in the controls.Conclusion]We found that cytochrome CYP2E1 5'polymorphism was associated with susceptibility to chronic occupational manganism,suggesting that the CYP2E1 5'gene may be a potential biomarker for identifying susceptible individuals among workers exposed to manganese.