XRCCl和MGMT基因多态性与东北地区汉族人群胶质瘤易感相关性研究

目的：研究XRCCl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：采用病例一对照研究方法，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XRCClArg399GIn多态性，采集366例胶质瘤患者和377例对照；MGMTLeu84Phe多态性，采集543例胶质瘤患者和495例对照；MGMT11e143Val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XRCCl基因Arg399Gln位点和MGMT基因Leu84Phe、Ilel43Val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XRCCl399Gln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．）x2=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Gin／Gin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＋GIn／GIn的个体胶质瘤患病风险增加，0R=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=l.36，95％cI为1．09～1．69，p=0．006。胶质瘤组中MGMT84Phe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，x2=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，0R=1．78，95％CI为1．33～2．39，Pd0．001；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〈O．001。胶质瘤组中MGMT143Val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，x2=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：XRCClArg399Gln和MGMTLeu84Phe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Ilel43Val位点基因多态性与胶质瘤易感性无关。

Correlation of polymorphism of DNA repair gene XRCC1 and MGMT with susceptibility to glioma in a Han population in northeastern China

OBJECTIVE： To investigate the relationship between the polymorphism of XRCC1 and MGMT and sus ceptibility to glioma in Han population northeastern China. METHODS.. A hospital-based case-control study with gliomaand none cancer or outpatients as a control group （matched for ages years and sex） in Han population northeastern China was conducted to analyze XRCC1 polymorphism at Arg399Gln（included 366 glioma patients and 377 healthy con trols） and MGMT polymorphism at Leu84Phe（included 543 glioma patients and 495 healthy controls） ,Ile143Val（included 369 glioma patients and 441 healthy controls）. Genetyped by PCR-based restriction fragment length polymorphism （PCR-RFLP） techniques. RESULTS The frequencies of 399Gln allele gene in the giioma patients was 0.35, which was significantly higher than that in controls 0.27 （x2 = 7. 485,P = 0. 006）. Compared with individuals with the Arg/Arg gene- type,individuals with the Gln genotype, the Arg/Gln individual increased the glioma risk （OR= 1.36,95%CI： 1.01- 1.85, P = 0. 045 ） ; Gln/Gln individual increased the glioma risk（OR= 1.83,95 % CI= 1.10 -- 3.05, P = 0.019） ; Arg/Gln ＋ Gln/Gln individual increased the glioma risk（OR = 1.44,95 % CI= 1.08--1.93, P= 0. 013） ;allele Gln individual increased the glioma risk（OR= 1.36,95 %CI= 1.09--1.69 ,P= 0. 006）. The frequencies of 84Phe allele gene in the glioma patients was 0.16,which was significantly higher than that in controls 0.10（X2 = 20. 253, P〈0. 001）. Compared with individuals with the Leu/Leu genetype,individuals with the Leu/Phe increased the glioma risk（OR ：-1.61,950% CI = 1.18--2.19, P=0. 002） ;Phe/Phe individual increased the glioma risk（OR= 4. 16,95% CI = 1. 68 -- 10.30, P = 0. 001） ; Leu/Phe ＋ Phe/Phe individual increased the glioma risk（OR= 1.78,96 % CI= 1.33- 2.39, P〈0. 001） ;allele Phe individual increased the glioma risk（OR= 1.83,95% CI= 1.40--2.38, P〈0.001）. The frequencies of 143Val allele gene in the glioma patients was 0.11, which was no evidence of an association in controls 0. 10 （X2 = 0. 242, P = 0. 623）. Compared with individuals with the Ile/Ile genetype,individuals with the Ile/Val or Val/Val or Ile/Val ＋ Val/Val and allele Val individual did not increase the glioma risk（P〈0.05）. CONCLUSIONS： The XRCC1 Arg399Gln and MGMT Leu84Phe polymorphism can add the risk to the occurrence of glioma in a Han population in northeastern China, which can elevate the occurrence of gli oma. No significant correlation is found between MGMT gene polymorphism of Ile143Val and glioma.