目的:探讨XRCC1基因单核苷酸多态性与肺癌易感性的关系。方法:以聚合酶链反应-限制性酶切片断多态性方法分析了肺癌病例(n=104)和按性别、年龄频数配比的健康对照者(n=121)XRCC1基因Arg194Trp和Arg399Gln位点的多态性,并比较不同基因型与肺癌风险的关系。结果:XRCC1 Arg399 Arg和Arg399Gln基因型频率在对照组和病例组中的分布差异无统计学意义(P〉0.05);病例组XRCC1 Gln399Gln突变纯合子基因型频率为13.46%,高于对照组3.31%(P〈0.01)。与携带Arg 399 Arg野生纯合子基因型者比较,携带Gln399Gln突变纯合子基因型个体发生肺癌的风险增加6.11倍(校正OR=6.11,95%CI=1.70-22.0);携带Arg399Gln突变杂合子基因型者患肺癌风险无显著增加(校正OR=1.03,95%CI=0.60~1.78)。XRCC1 Arg194Arg、Arg194Trp和Trp194Trp基因型频率在对照组和病例组中的分布差异均无统计学意义(P〉0.05);与携带Arg194Arg野生纯合子基因型者比较,携带至少1个194Trp等位基因者(即Arg194Trp和Trp194Trp基因型)患肺癌风险无显著增加(校正OR:0.998,95%CI=0.97~1.03;校正OR=1.81,95%CI=0.30~11.08)。结论:DNA碱基切除修复基因XRCC1 Gln399Gln突变纯合子基因型者患肺痛风险增加.
Objective:To investigate the correlation between XRCC1 genetic polymorphisms and susceptibility to human lung cancer. Methods:A hospital-based case-control study of lung cancer was conducted. The cases ( n = 104) were all newly diagnosed lung cancer in Wuhan, and healthy controls were matched to the cases in frequency on age(±5years)and sex ( n = 121). XRCC1 genotype was determined from blood-derived DNA using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic regression analysis was performed to calculate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs). Result:For XRCC1 codon 399 genotypes, there is no significant difference between frequencies of the Arg/Arg and Arg/Gln among patients and controls ( P〉0.05), and Arg/Gln genotypes were not associated with risk (adjusted OR=1.03,95% CI =0.60-1.78) for lung cancer compared with Arg/ Arg genotype. Only the frequency of XRCC1 399 Gln/Gln genotype was higher in the cases (13.46%) than that in controls (3.31%) and associated with an increased risk (adjusted OR= 6.11, 95% CI= 1.70-22.0) for lung cancer compared with Arg/Arg genotype. Conclusion:DNA repair XRCC1 399 Gln/Gln genotype may increase risk of lung cancer.