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背景与目的:肺癌是由环境和遗传两大类因素联合作用导致的复杂疾病,其中DNA损伤是肺癌遗传病因中的重要组分。作为参与多条DNA损伤修复通路的关键因子,DNA连接酶与肺癌发生可能存在联系。本文旨在研究DNA连接酶基因LIG1外显子6多态性与肺癌易感性的关系,并探索其与吸烟可能的交互作用。方法:采用病例-对照研究,收集原发性肺癌患者396例为病例组,同时随机抽取465名当地健康居民作为对照组,进行流行病学调查。运用PCR-RFLP方法分析LIG1基因外显子6的多态性。应用Logistic回归模型分析该位点多态性与肺癌易感性的关系。结果:突变等位基因C在病例组和对照组中的频率分别为28.41%和26.02%,两组间差异无显著性(P=0.2667)。相对于野生型A/A,携带A/C基因型者患肺癌的危险度为1.20(95%CI:0.90～1.62);而患肺腺癌和肺鳞癌的危险度分别达到1.45(95%CI:0.93～2.26)和1.57(95%CI:0.93～2.65)。在肺腺癌的发病中,LIG1多态的突变基因型与吸烟之间存在临界显著的负交互作用(OR=0.44,95%CI=0.18～1.06)。结论:DNA连接酶基因LIG1外显子6多态性可能与肺腺癌和肺鳞癌的易感性有关。
Background and Objective: Lung cancer is a complex disease caused by the combination of environmental and genetic factors. DNA damage is an important component of genetic causes of lung cancer. As a key factor involved in multiple DNA damage repair pathways, DNA ligase may be associated with the development of lung cancer. The purpose of this paper is to investigate the relationship between DNA ligase gene LIG1 exon 6 polymorphism and susceptibility to lung cancer and to explore its possible interaction with smoking. Methods: A case-control study was conducted in which 396 primary lung cancer patients were collected as case group and 465 healthy local residents were randomly selected as control group for epidemiological investigation. The polymorphism of LIG1 exon 6 was analyzed by PCR-RFLP. Logistic regression model was used to analyze the association between the polymorphism and the susceptibility to lung cancer. Results: The frequencies of mutant allele C in case group and control group were 28.41% and 26.02% respectively, with no significant difference between the two groups (P = 0.2667). The risk of lung cancer was 1.20 (95% CI: 0.90 to 1.62) in patients with A / C genotypes compared with wild-type A / A, and 1.45 (95% CI, CI: 0.93-2.26) and 1.57 (95% CI: 0.93-2.65). In the incidence of lung adenocarcinoma, there was a significant negative negative interaction between the mutant genotype of LIG1 polymorphism and smoking (OR = 0.44, 95% CI = 0.18-1.06). Conclusion: The DNA ligase gene LIG1 exon 6 polymorphism may be related to the susceptibility of lung adenocarcinoma and lung squamous cell carcinoma.