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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。
Objective To investigate the association between nucleotide excision repair (NER) gene polymorphism, benzene exposure level and lifestyle risk and the risk of chronic benzene poisoning (CBP), so as to screen biomarker of susceptibility to chronic benzene poisoning and its primary prevention Theoretical basis. Methods After informed consent, 100 chronic benzene poisoning patients and 200 healthy controls were selected according to the principle of 1: 2 ratio. After the questionnaire survey, blood samples of 2 m L were collected to extract DNA. Taqman real time PCR detection ERCC1 rs11615, rs3212986, ERCC2 rs13181, rs1799793, rs238406 genotype; primer extension assay SNapshot ERCC3 rs150441, ERCC4 rs4781560, XPC rs2228001, rs2279017 SNP genotyping sites. Using SPSS 19.0 statistical software for analysis. Results ERCC1 rs11615 TT genotype increased risk of chronic benzene poisoning can occur (ORadj = 3.236,95% CI = 1.353 ~ 7.740), found 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) and other genetic loci associated with chronic benzene poisoning. Conclusions In the case of benzene exposure, the risk of chronic benzene poisoning is increased in individuals with the TT genotype of ERCC1 rs11615. ERCC1 rs11615 polymorphism may be one of the biological markers for the screening of susceptible people with chronic benzene poisoning.