APE1 T1349G基因多态性和膀胱癌易感性的关系

摘要

Objective To investigate the relationship between the polymorphism of purine / pyrimidine endonuclease 1 (APE1)T1349G and the susceptibility to bladder cancer. Methods Using forward-looking research methods,a total of 297 cases of bladder cancer patients in our hospital from January 2013 to January 2017 were selected as objects of the study. 300 healthy subjects were selected as the control group. The peripheral blood of each subject was collected and the genomic DNA was extracted. The APE1 gene polymorphism was detected by Two pairs of primers - polymerase chain reaction (PCR-CTPP)and was analyzed whether it was consistent with the Hardy - Weinberg equilibrium (HWE) law. The relationship between APE1 gene polymorphism and bladder cancer susceptibility was analyzed by Logistic regression. Results APE1 had single nucleotide polymorphism at 1349 locus,which were wild type homozygous TT genotype,mutant heterozygous TG type and mutant homo-zygous GG type. The frequency distribution of APE1 T1349G gene polymorphism conforms to the Hardy-Weinberg equilibrium (HWE)law. The risk of bladder cancer with APE1 1349GG genotype was higher than that of APE1 1349TT genotype (OR＝2.18,95%CI 1.99～2.39,P ＜0.05). The risk of bladder cancer with APE1 1349TG genotype was higher than that of APE1 1349TT genotype (OR＝1.12,95%CI 0.95～1.32,P ＞0.05). The risk of bladder cancer with APE1 1349 allele G was significantly higher than that of APE1 1349 allele T (OR＝1.89,95%CI 1.69～2.11,P ＜0.05). There was no significant correlation between the genotype of APE1 T1349G polymorphism and the pathological grade or TNM staging of bladder cancer (P ＞0.05). Conclusion The APE1 T1349G gene polymorphism is associated with the pathogenesis of bladder canc-er. The genotype GG genotype and G allele can increase the risk of bladder cancer.%目的 探讨脱嘌呤/脱嘧啶核酸内切酶1(APE1)T1349G基因多态性与膀胱癌易感性的关系.方法 采用前瞻性研究,选取2013年1月至2017年1月诊治的膀胱癌患者297例为研究对象,选取同期健康体检者300例为对照组.采集各受试者外周静脉血并提取基因组DNA,采用两对引物-聚合酶链式反应(PCR-CTPP)检测APE1基因多态性并分析是否符合哈迪-温伯格平衡(HWE)定律;采用Logistic回归分析APE1基因多态性与膀胱癌易感性之间的关系.结果 APE1在1349位点存在单核苷酸多态性,分别为野生型纯合子TT型、突变杂合子TG型、突变纯合子GG型.APE1 T1349G基因多态性基因型频率分布符合哈迪-温伯格平衡(HWE)定律.APE1 1349GG基因型发生膀胱癌的风险显著高于APE1 1349TT基因型(OR＝2.18,95%CI＝1.99～2.39,P ＜0.05),APE1 1349TG基因型发生膀胱癌的风险高于APE1 1349TT基因型(OR＝1.12,95%CI＝0.95～1.32,P ＞0.05);APE1 1349位点等位基因T颠换为G,发生膀胱癌的风险显著升高(OR＝1.89,95%CI＝1.69～2.11,P ＜0.05).APE1 T1349G多态性位点各基因型与膀胱癌患者的病理分级和TNM分期无明显相关性(P ＞0.05).结论 APE1 T1349G基因多态性与膀胱癌发病有关,该基因位点GG基因型以及G等位基因可增加膀胱癌的发病风险.