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目的:研究XRCC1和MGMT基因多态性与东北地区汉族人群胶质瘤易感性的关系。方法:采用病例-对照研究方法,收集东北地区汉族人群胶质瘤患者,同时随机选取同性别、民族、年龄相差±5岁、同期住院的非肿瘤门诊患者作为对照。其中XRCC1Arg399Gln多态性,采集366例胶质瘤患者和377例对照;MGMT Leu84Phe多态性,采集543例胶质瘤患者和495例对照;MGMT Ile143Val多态性,采集369例胶质瘤患者和441例对照。采用PCR-RFLP方法分析XRCC1基因Arg399Gln位点和MGMT基因Leu84Phe、Ile143Val位点的多态性,比较不同基因型与胶质瘤易感性的关系。结果:胶质瘤组中XRCC1 399Gln等位基因频率为0.35,明显高于对照组0.27,差异有统计学意义,χ2=7.485,P=0.006。与Arg/Arg基因型比较,携带基因型Arg/Gln的个体胶质瘤患病风险增加,OR=1.36,95%CI为1.01~1.85,P=0.045;携带Gln/Gln的个体胶质瘤患病风险增加,OR=1.83,95%CI为1.10~3.05,P=0.019;携带Arg/Gln+Gln/Gln的个体胶质瘤患病风险增加,OR=1.44,95%CI为1.08~1.93,P=0.013;携带等位基因Gln的个体胶质瘤患病风险增加,OR=1.36,95%CI为1.09~1.69,P=0.006。胶质瘤组中MGMT 84Phe等位基因频率为0.16,明显高于对照组0.10,差异有统计学意义,χ2=20.253,P<0.001。与Leu/Leu基因型比较,携带基因型Leu/Phe的个体胶质瘤患病风险增加,OR=1.61,95%CI为1.18~2.19,P=0.002;携带Phe/Phe的个体胶质瘤患病风险增加,OR=4.16,95%CI为1.68~10.30,P=0.001;携带Leu/Phe+Phe/Phe的个体胶质瘤患病风险增加,OR=1.78,95%CI为1.33~2.39,P<0.001;携带等位基因Phe的个体胶质瘤患病风险增加,OR=1.83,95%CI为1.40~2.38,P<0.001。胶质瘤组中MGMT 143Val等位基因频率为0.11,高于对照组0.10,但差异无统计学意义,χ2=0.242,P=0.623。与Ile/Ile基因型比较,携带基因型Ile/Val或Val/Val或Ile/Val+Val/Val以及等位基因Val的个体胶质瘤患病风险未增加,P>0.05。结论:XRCC1Arg399Gln和MGMT Leu84Phe基因多态性可增加东北地区汉族人群患胶质瘤的风险,MGMT基因Ile143Val位点基因多态性与胶质瘤易感性无关。
Objective: To investigate the relationship between polymorphisms of XRCC1 and MGMT and the susceptibility to glioma in Han population in Northeast China. Methods: A case-control study was conducted to collect patients with gliomas in the Han population of northeast China. At the same time, patients of the same sex and ethnicity with a mean age of ± 5 years were selected randomly. Non-tumor outpatients were hospitalized in the same period as control. Among them XRCC1Arg399Gln polymorphism, 366 glioma patients and 377 controls; MGMT Leu84Phe polymorphism, 543 glioma patients and 495 controls; MGMT Ile143Val polymorphism, 369 glioma patients were collected and 441 cases of control. The polymorphisms of Arg399Gln site and Leu84Phe and Ile143Val sites of MGMT gene were analyzed by PCR-RFLP. The relationship between different genotypes and susceptibility to glioma was analyzed. Results: The frequency of XRCC1 399Gln allele in glioma group was 0.35, which was significantly higher than that in control group (0.27), the difference was statistically significant (χ2 = 7.485, P = 0.006). Compared with the Arg / Arg genotype, the risk of individual gliomas with genotype Arg / Gln increased, OR = 1.36, 95% CI 1.01-1.85, P = 0.045; Gln / Gln-bearing gliomas OR = 1.83, 95% CI 1.10-3.05, P = 0.019; The risk of individual glioma with Arg / Gln + Gln / Gln increased, OR = 1.44, 95% CI 1.08-1.93, P = 0.013; The risk of glioma patients with allele Gln increased, OR = 1.36, 95% CI 1.09-1.69, P = 0.006. The frequency of MGMT 84Phe allele in glioma group was 0.16, which was significantly higher than that in control group (0.10), the difference was statistically significant (χ2 = 20.253, P <0.001). Individuals with genotype Leu / Phe had a greater risk of developing glioma compared with the Leu / Leu genotype (OR = 1.61, 95% CI 1.18-2.19, P = 0.002); individuals with Phe / Phe OR = 4.16, 95% CI 1.68-10.30, P = 0.001; the risk of individual glioma with Leu / Phe + Phe / Phe increased, OR = 1.78, 95% CI 1.33-2.39, P <0.001; the risk of individual gliomas carrying the allele Phe increased, OR = 1.83, 95% CI 1.40-2.38, P <0.001. The glioma group MGMT 143Val allele frequency was 0.11, higher than the control group 0.10, but the difference was not statistically significant, χ2 = 0.242, P = 0.623. Individual gliomas with genotypes Ile / Val or Val / Val or Ile / Val + Val / Val and allele Val had no increased risk of developing glioma compared to Ile / Ile genotypes, P> 0.05. Conclusion: The polymorphisms of XRCC1Arg399Gln and MGMT Leu84Phe may increase the risk of gliomas in northeastern Han population. The gene polymorphism of Ile143Val in MGMT gene is not associated with the susceptibility to glioma.