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中文摘要：
目的探讨DNA双链断裂修复(DSBR)基因遗传多态性与非小细胞肺癌(NSCLC)预后的关联。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和TaqMan探针技术检测679例NSCLC新发病例的DSBR 10个SNP(rs6869366、rs1056503、rs3734091、rs861539、rs861537、rs1799794、rs16942、rs144848、rs1805794、rs2735383)的基因分型,应用Kaplan-Meier、Log rank检验和Cox回归模型进行预后分析。结果患者总体5年生存率为29.8%(95%CI:26.1%~33.5%)。化疗患者携带XRCC3 rs861539 CT+TT基因型的死亡风险低于携带CC基因型患者(MST:32月vs.60月HR=0.629,95%CI:0.411~0.962,P=0.032;aHR=0.623,95%CI:0.399~0.973,P=0.038);鳞癌患者携带BRCA1 rs16942 AG+GG等位基因型比携带AA基因型的预后差(MST:24月vs.31月;aHR=1.622,95%CI:1.139~2.310,P=0.007);非吸烟女性腺癌患者携带NBS1 rs2735383GC+CC基因型较携带GG基因型的死亡风险低(MST:41月vs.32月;aHR=0.420,95%CI:0.247~0.714,P=0.0 0 1);携带X R C C 3r s 8 6 1 5 3 9 C T+T T基因型的临床早期病例较携带CC基因型的死亡风险降低(aHR=0.444,95%CI:0.192~1.025,P=0.057);男性吸烟的早期患者携带NBS1 rs1805794CG+GG基因型比CC基因型的死亡风险高(aHR=2.768,95%CI:1.273~6.017,P=0.010);携带XRCC3 rs861537 AA基因型的临床晚期病例较携带GG基因型的死亡风险增加(aHR=1.750,95%CI:1.021~3.001,P=0.042)。联合分析发现,患者携带4个或5个不利基因型比携带≤3个不利基因型的死亡风险增加(aHR=1.153,95%CI:1.005~1.322,Ptrend=0.042)。结论DSBR基因遗传多态性可作为NSCLC患者预后评价的参考。
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