目的研究核苷酸切除修复交叉互补基因1(ERCC1)的SNP基因型和慢性苯中毒遗传易感性的关联,为建立慢性苯中毒易感人群的生物标志及其防治研究提供理论依据。方法采集病例组102名慢性苯中毒患者、对照组204名人员静脉血样,应用PCR法检测ERCC1Asn118Asn(rs11615)、C8092A(rs3212986)SNP位点基因型,分析基因多态位点和慢性苯中毒易感性是否有关,以比值比(odds ratio,OR)及其95%可信限(95%confidence interval,95%CI)表示关联强度。结果 ERCC1 Asn118Asn(rs11615)TT基因型可使慢性苯中毒发生风险增高(ORadj=3.251,95%CI=1.365-7.743,χ^2=6.718,P=0.010),未发现ERCC1 C8092A(rs3212986)等位点与慢性苯中毒发生的关联。结论在相同的苯作业暴露环境下,携带ERCC1Asn118Asn(rs11615)TT基因型的个体发生慢性苯中毒的风险增高,ERCC1Asn118Asn(rs11615)多态可能作为慢性苯中毒发病危险性增加的生物学标志之一。
Objective To analyze the relationship between the polymorphism of ERCC1 and genetic susceptibility to chronic benzene poisoning,a case control study was conducted for providing a theoretical basis of the biomarkers of chronic benzene poisoning susceptible population and the study of prevention and treatment on chronic benzene poisoning( CBP). Methods The venous blood samples were taken from 102 chronic benzene poisoning patients( benzene group),and 204 normal adults(control group) for detection of genotype of ERCC1Asn118Asn(rs11615),C8092A(rs3212986) by PCR method,thereby analyze the relationship between ERCC1 SNP and the susceptibility to chronic benzene poisoning. The odds ratio( OR) and its95% confidence interval(95% CI) were used to the association degree. Results The results showed that there was some close correlation between ERCC1 Asn118Asn(rs11615) TT genotype and the risk of CBP(ORadj= 3. 251,95% CI = 1. 365 - 7. 743,χ^2= 6. 718,P = 0. 010),but there seems no any association between polymorphisms of ERCC1 C8092A( rs3212986) and CBP. Conclusion The study showed that ERCC1Asn118Asn(rs11615) TT genotype is related to the risk of suffering chronic benzene poisoning its polymorphism can be considered as a biological marker for screening the susceptible person to chronic benzene poisoning.