中文摘要：

目的 探讨核苷酸切除修复（NER）通路基因多态性、苯暴露水平和生活方式与慢性苯中毒（CBP）发病风险的关联,为筛选慢性苯中毒的易感性生物标志及其一级预防提供理论依据。方法 知情同意后以1：2配比原则选取100名慢性苯中毒患者和200名健康对照,问卷调查后,采集2 m L静脉血样,提取DNA。Taqman real time PCR检测ERCC1 rs11615、rs3212986、ERCC2 rs13181、rs1799793、rs238406基因型;引物延伸SNapshot法检测ERCC3 rs150441,ERCC4 rs4781560,XPC rs2228001、rs2279017位点SNP基因型。采用SPSS 19.0统计软件进行分析。结果 ERCC1 rs11615 TT基因型可使慢性苯中毒发生风险增高（ORadj=3.236,95%CI=1.353~7.740）,未发现ERCC1 rs3212986（χ2=0.125,P=0.939）,ERCC2 rs13181（χ2=3.315,P=0.191）、rs1799793（χ2=1.796,P=0.407）、rs238406（χ2=1.182,P=0.554）,ERCC3 rs150441（χ2=4.657,P=0.097）,ERCC4 rs4781560（χ2=1.116,P=0.572）,XPC rs2228001（χ2=1.180,P=0.554）、rs2279017（χ2=2.570,P=0.227）等基因位点与慢性苯中毒发生有关联。结论 在苯暴露情况下,携带ERCC1 rs11615 TT基因型的个体发生慢性苯中毒的风险增高,ERCC1rs11615多态可能成为慢性苯中毒易感人群筛选的生物学标志之一。

英文摘要：

Objective To explore associations of nucleotide excision repair（ NER） pathway gene polymorphism,benzene exposure level,and lifestyle with the risk of chronic benzene poisoning（ CBP） and to provide evidences for screening biomarkers and primary prevention of CBP. Methods We recruited 100 occupational CBP cases diagnosed between 1986 and 2011 at occupational disease hospitals and research institutes in Shenyang municipality and 200 gen-der-,age-,and benzene exposure history-matched healthy controls. A questionnaire survey and DNA extraction from 2 ml venous blood sample w ere conducted among all the participants. We detected polymorphisms of excision repair crosscomplementing（ ERCC） genes（ ERCC1,ERCC2,ERCC3,and ERCC4） and xeroderma pigmentosum complementation group C（ XPC） gene（ XPC） by real time PCR technology and w e also detected single nucleotide polymorphisms（ SNP） of ERCC1（ rs11615 and rs3212986）,ERCC2（ rs13181,rs1799793 and rs2384060）,ERCC3 rs150441,ERCC4rs4781560,and XPC（ rs2228001 and rs2279017） w ith SNapshot technology. We adopted SPSS 19. 0 softw are in statistical analyses. Results An increased risk of CBP w as observed among the individuals w ith ERCC1 rs11615 TT genotype（ adjusted odds ratio = 3. 236,95% confidence interval： 1. 353- 7. 740,χ2= 6. 964; P〈0. 05）. No significant correlation w as observed betw een the risk of CBP and polymorphism of ERCC1 rs3212986（ χ2= 0. 125,P = 0. 939）,ERCC2rs13181（ χ2= 3. 315,P = 0. 191）,rs1799793（ χ2= 1. 796,P = 0. 407）,rs238406（ χ2= 1. 182,P = 0. 554）,ERCC3rs150441（ χ2= 4. 657,P = 0. 097）,ERCC4 rs4781560（ χ2= 1. 116,P = 0. 572）,XPC rs2228001（ χ2= 1. 180,P = 0. 554）,and rs2279017（ χ2= 2. 570,P = 0. 227）. Conclusion The study results suggest that ERCC1 rs11615 TT genotype is related to an increased risk of suffering from CBP and SNP of ERCC1 rs11615 could be considered as a valid susceptible biomarker in CBP screening among occupational populations.