XRCC1基因多态性与膀胱癌关系的病例对照研究

A Case-control Study of Polymorphism of XRCC1 Gene and the Risk of Bladder Cancer

[目的]探讨人类DNA修复基因XRCC1Arg194Trp单核苷酸多态性与膀胱癌危险性的关系。[方法]采用PCR-RFLP分析技术检测242例膀胱癌患者及225例人群对照XRCC1基因194位点的多态性。应用非条件Logistic回归模型,调整混杂因素后,分析各基因型与膀胱癌发生的关系以及是否与吸烟因素存在着交互作用。[结果]膀胱癌病例组的194Trp/Trp突变基因型频率(11.2%)显著高于对照组(4.0%)。调整年龄、性别、吸烟、高危职业史、膀胱感染和体质指数等因素后,携带194Trp/Trp基因型个体患膀胱癌的风险是194Arg/Arg基因型个体的3.64倍(95%CI:1.60～8.30)。此基因型与吸烟对增加膀胱癌发病风险无明显交互作用。去除了吸烟的混杂效应后,194Trp/Trp基因型个体患膀胱癌的危险性是其它基因型个体的3.16倍(95%CI:1.45～6.88)。[结论]XRCC1基因194Trp/Trp突变基因型增加膀胱癌发病风险,与吸烟无交互作用。

[Purpose] To investigate the relationship hetween the codon 194 arganine to tryptophan substitution polymorphism of X-ray repair cross complementing group 1 （XRCC1） and bladder cancer risk in a population-based case-control study. [Methods] A polymerase chain reaction-based assay was used to detect Pvu Ⅱ restriction fragment length polymorphisms in 242 patients with bladder cancer and 225 healthy controls. After adjusted for age, sex, smoking, high risk occupation, bladder infection and body mass index, interaction effects of the genotypes and bladder cancer risk was estimated using unconditional Logistic regression. [Results] The frequency of XRCC1 codon 194Trp/Trp genotype in the case group （11.2%） was significantly higher than that in the control group （4.0%）. The individuals carrying 194Trp/Trp genotype had a significantly increased risk for bladder cancer （OR=3.64, 95%Ch 1.60-8.30）. There was no evidence of interaction between XRCC1 codon 194Trp/Trp genotype and tobacco smoking. Mantel-Haenszel stratified analysis revealed that the individual carrying 194Trp/Trp genotype was associated with a significant increased risk for bladder cancer （adjusted OR=3.61, 95%CI： 1.45-6.88） compared those with 194Arg/Arg genotype. [Conclusion ] The genotype of XRCC 1 194Trp/ Trlo might be associated with the risk of bladder cancer, but the genotype might not interact with tobac- co smoking to increase the risk of bladder cancer.