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范雪娇, 任朋亮, 卢钟娇, 等. 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[J]. koko体育app 学报（医学版）, 2013, 44(4): 568-572.
引用本文: 范雪娇, 任朋亮, 卢钟娇, 等. 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[J]. koko体育app 学报（医学版）, 2013, 44(4): 568-572.
FAN Xue-jiao, REN Peng-liang, LU Zhong-jiao, et al. The Study of Esophageal Cancer Risk Associated with Polymorphisms of DNA Damage Repair Genes XRCC4 and RAD51[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(4): 568-572.
Citation: FAN Xue-jiao, REN Peng-liang, LU Zhong-jiao, et al. The Study of Esophageal Cancer Risk Associated with Polymorphisms of DNA Damage Repair Genes XRCC4 and RAD🗹51[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(4): 568-572.

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

  • 摘要: 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 XRCC4 rs6869366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,XRCC4 G-1394T,RAD51-G135 C位点多态性改变均可增加食管癌的发病风险。  
    Abstract: 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 (GC+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.  
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