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目的探讨共同位于19q13基因ERCC1,ERCC2,XRCC1,PPP1R13L,CD3EAP的单核苷酸多态性(SNP)与慢性苯中毒(CBP)发病风险的关联,找寻慢性苯中毒易感人群的生物标志,并为CBP的早期防治提供科学理论依据。方法 CBP确诊患者100例,按照1∶2匹配同样接触苯的健康对照200例,采集血样2 ml,提取DNA,采用SNa Pshot检测XRCC1 rs25489,PPP1R13L rs1005165及rs1970764;Taq Man Real time PCR探针法检测ERCC1rs11615,ERCC2 rs13181、rs1799793、rs238406,XRCC1 rs25487、rs1799782及CD3EAP rs967591多态基因型。结果ERCC1 rs11615,XRCC1 rs1799782,XRCC1 rs25487多态性与慢性苯中毒发病风险相关,ERCC1 rs11615 TT和XRCC1rs25487 TT基因型均可使CBP发生风险增高(ORa=3.236,95%CI 1.353~7.740,χ~2=6.875,P=0.009;ORa=2.093,95%CI 0.966~4.533,χ~2=5.642,P=0.018),XRCC1 rs1799782 AA和AG基因型均可使CBP发生风险降低(ORa=0.074,95%CI 0.034~0.160,χ~2=45.128,P=0.000;ORa=0.357,95%CI 0.195~0.653,χ~2=12.168,P=0.000)。尚未发现其他基因多态与CBP发病风险的关联。结论在相同苯作业环境下,携带ERCC1 rs11615 TT、XRCC1 rs25487 TT基因型的个体发生慢性苯中毒的风险增高,上述基因多态可能成为预测慢性苯中毒的生物学标志。
Objective To investigate the association between single nucleotide polymorphisms (SNPs) of 19q13 gene ERCC1, ERCC2, XRCC1, PPP1R13L and CD3EAP and the risk of chronic benzene poisoning (CBP) in order to find the biomarkers of susceptible population of chronic benzene poisoning Provide a scientific theoretical basis for the early prevention and treatment of CBP. Methods One hundred and twenty patients diagnosed by CBP were screened according to 1: 2 matched 200 healthy controls with the same exposure to benzene, 2 ml blood samples were collected and DNA was extracted. XRCC1 rs25489, PPP1R13L rs1005165 and rs1970764 were detected by SNa Pshot. TaqMan Real time PCR ERCC1 rs11615, ERCC2 rs13181, rs1799793, rs238406, XRCC1 rs25487, rs1799782 and CD3EAP rs967591 polymorphic genotypes. Results The polymorphisms of ERCC1 rs11615, XRCC1 rs1799782 and XRCC1 rs25487 were correlated with the risk of chronic benzene poisoning. The genotypes of ERCC1 rs11615 TT and XRCC1 rs25487 TT all increased the risk of CBP (ORa = 3.236, 95% CI 1.353-7.740, χ ~ 2 OR = 2.093, 95% CI 0.966-4.533, χ ~ 2 = 5.642, P = 0.018). Both AA and AG genotypes of XRCC1 rs1799782 could reduce the risk of CBP (ORa = 0.074, 95% CI 0.034 ~ 0.160, χ ~ 2 = 45.128, P = 0.000; ORa = 0.357, 95% CI 0.195 ~ 0.653, χ ~ 2 = 12.168, P = 0.000). No association of other genetic polymorphisms with the risk of CBP has been found. Conclusion The risk of chronic benzene poisoning in individuals with TT genotypes of ERCC1 rs11615 TT and XRCC1 rs25487 is increased in the same benzene environment. The above polymorphisms may be the biological markers for predicting chronic benzene poisoning.