DNA损伤修复基因XRCC4、RAD51单核苷酸多态性与中国地区食管癌易感相关性研究

The Study of Esophageal Cancer Risk Associated with Polymorphisms of DNA Damage Repair Genes XRCC4 and RAD51

目的探究DNA双链断裂修复基因XRCC4、RAD51单核苷酸多态性与食管癌易感性的关系。方法采用以医院为基础的病例-对照研究方法,应用PCR限制性内切酶片段长度多态性(PCR-RFLP)检测包括正常对照61例,食管癌患者123例XRCC4基因启动子区G-1394T(rs6869366)位点,以及RAD51-G135C位点的单核苷酸多态性。通过logistic回归分析计算出比值比(OR)和95%置信区间(95%CI)。结果 XRCC4rs6869366位点G等位基因的基因型(GT+GG)的携带者患食管癌的风险显著增加(OR=3.022,95%CI=1.487～6.142,P=0.002)。RAD51基因型GC和CC与携带GG的野生型个体相比,携带RAD51变异基因型(GC和CC)的个体具有更高的患癌风险(OR=3.643,95%CI=1.501～8.842,P<0.05)。结论 DNA损伤修复系统中的基因多态性很可能与食管癌发生的易感性有关,XRCC4G-1394T,RAD51-G135C位点多态性改变均可增加食管癌的发病风险。

Objective Investigate the association between genetic polymorphism of DSBs repair gene XRCC4, RAD51 and susceptibility to esophageal cancer （EC）. Methods A hospital based case-control study with 123 EC cases and 61 controls in a Chinese population was conducted. PCR-RFLP was applied to investigate the genotype of XRCC4 promoter G-1394T （rs6869366） and RAD51-G135C and then statistical analysis was conducted by calculating the adjusted odds ratios （OR） and 95% confidence intervals （95%CI）. Results A significant difference of XRCC4-1394 polymorphism was observed between EC cases and controls （P〈0.05）. Carriers of the XRCC4 rs6869366 G allele （GCq-GG） were at a higher risk of developing EC with the TT genotype as reference （OR= 3. 022, 95%CI= 1. 487-6. 142, P= 0. 002）. When GG served as the reference group of RAD51-G135C allele, variant genotype （GC and CC） had a significant increased risk of lung cancer （OR=3. 643,95 %CI= 1. 501-8. 842, P〈0.05）. Conclusion Our findings indicated that genetic variants in DNA repair pathways may be involved in esophageal tumorigenesis. XRCC4 G-1394T and RAD51-G135C conferred risk for the process of developing EC.