ERCC2/XPD和XRCC1基因多态性评估食管癌预后的应用价值

Significance of ERCC2/XPD and XRCC1 gene polymorphisms in evaluating prognosis of esophageal cancer

目的探讨DNA损伤修复基因核苷酸切除修复交叉互补基因2(ERCC2/XPD)和X线修复交叉互补基因1(XRCC1)的基因多态性评估食管癌预后的价值。方法采集100例食管癌患者(试验组)和80例正常受试者(对照组)静脉血,采用聚合酶链反应-限制性片段长度多态性方法检测ERCC2/XPD Lys751Gln和XRCC1Arg399Gln基因多态性,Logistic回归分析计算风险比,分析基因型与食管癌复发、转移的相关性。结果试验组和对照组变异型等位基因ERCC2/XPD Lys751Gln频率为15.7%和13.0%;与野生型Lys/Lys相比,携带Lys/Gln和Gln/Gln基因型易患食管癌(P<0.05)。试验组和对照组变异型等位基因XRCC1 399Gln频率分别为29.8%和30.2%;与野生型Arg/Arg相比,携带Arg/Gln和Gln/Gln基因型易患食管癌(P<0.05)。食管癌复发、转移与ERCC2/XPD基因Lys/Gln、Gln/Gln基因型及XRCC1 399Arg/Arg基因型相关(P<0.05),而与ERCC2/XPD Lys/Lys基因型及XRCC1 399基因Arg/Gln、Gln/Gln基因型无明显相关性(P>0.05)。结论 ERCC2/XPD和XRCC1基因多态性可增加食管癌发生风险,影响食管癌患者的预后。

Objective To explore the application of gene polymorphisms of DNA damage-repair gene ERCC2/XPD and XRCC1 in evaluating the prognosis of patients with esophageal cancer.Methods Gene polymorphisms of ERCC2/XPD Lys751 Gln and XRCC1 Arg399 Gln were detected by PCRrestriction fragment length polymorphism in 100 patients with esophageal cancer（group A）and 80controls（group B）.Hazard ratio was calculated with Logistic regression analysis and the correlation between genotypes and recurrence and metastasis of esophageal cancer was analyzed.Results The frequencies of ERCC2/XPD Lys751 Gln variant alleles in groups of A and B were 15.7% and 13.0%,respectively.The patients carrying genotypes of Lys/Gln and Gln/Gln were more susceptible to having esophageal cancer than Lys/Lys wild-type（P〈0.05）.The frequencies of XRCC1 399 Gln variant alleles in groups of A and B were 29.8% and 30.2%,respectively.The patients carrying genotypes of Arg/Gln and Gln/Gln were more susceptible to having esophageal cancer than Arg/Arg wild-type（P〈0.05）.Recurrence and metastasis of esophageal cancer were closely related to ERCC2/XPD genotypes of Lys/Gln and Gln/Gln,and XRCC1 399 Arg/Arg（P〈0.05）,but not to ERCC2/XPD Lys/Lys and XRCC1 399 genotypes of Arg/Gln and Gln/Gln（P〉0.05）.Conclusion ERCC2/XPD and XRCC1 gene polymorphisms can increase a risk for occurrence of esophageal cancer and poor prognosis of patients with esophageal cancer.