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目的研究DNA修复基因XRCC1密码子194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XRCC1基因Arg194Trp位点的多态性。应用Lo-gistic回归模型分析该位点多态性与肺癌易感性的关系。结果等位基因Arg和Trp在病例组的频率分别为69.82%和30.18%,在对照组中则分别为74.30%和25.70%,两组间有显著差异(P=0.0386)。携带纯合突变基因型Trp/Trp者患肺癌的风险显著高于携带野生型Arg/Arg者,其OR值为1.72(95%CI:1.05-2.80)。携带纯合型Trp/Trp的吸烟者患肺癌的风险约为携带野生型Arg/Arg的非吸烟者的7倍(OR=7.18,95%CI:3.09-16.66);是携带野生型的吸烟者的2倍(OR=2.02,95%CI:0.92-4.43)。结论DNA修复基因XRCC1密码子194的多态性可能与肺癌的易感性有关,且在吸烟者中,Trp/Trp基因型可使肺癌发病风险显著提高,提示XRCC1可能通过遗传因素及遗传因素与环境致癌因素的交互作用影响肺癌的危险性。
Objective To study the relationship between polymorphism of codon 194 of DNA repair gene XRCC1 and the 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 selected as control group for epidemiological investigation. The polymorphism of Arg194Trp locus in XRCC1 gene was analyzed by PCR-RFLP. Lo-gistic regression model was used to analyze the relationship between the polymorphism and lung cancer susceptibility. Results The allele frequencies of Arg and Trp were 69.82% and 30.18% respectively in the case group and 74.30% and 25.70% respectively in the control group, with significant differences between the two groups (P = 0.0386). Patients with homozygous mutant genotypes, Trp / Trp, had a significantly higher risk of developing lung cancer than those with wild-type Arg / Arg, with an OR of 1.72 (95% CI: 1.05-2.80). Smokers with homozygous Trp / Trp were 7 times more likely to develop lung cancer than non-smokers with wild-type Arg / Arg (OR = 7.18, 95% CI: 3.09-16.66); those with wild-type smokers (OR = 2.02, 95% CI: 0.92-4.43). Conclusion The polymorphism of DNA repair gene XRCC1 codon 194 may be related to the susceptibility to lung cancer. In smokers, Trp / Trp genotypes may significantly increase the risk of lung cancer, suggesting that XRCC1 may be related to the environment through genetic and genetic factors Interactions of carcinogenic factors affect the risk of lung cancer.