DNA修复基因多态性与非肌层浸润性膀胱癌易感性的相关性

Correlation of DNA repair genetic polymorphisms and non muscle-invasive bladder cancer risk

目的探讨上海地区汉族人群中DNA修复基因多态性与非肌层浸润性膀胱癌遗传易感性的关系。方法采用Taqman探针实时荧光定量PCR技术、病例对照研究方法，采集研究对象外周静脉血，检测94例病理证实原发非肌层浸润性膀胱癌患者和304例非肿瘤对照者的3个DNA修复基因（XPC，XPG，XRCC1）中的3个单核苷酸多态性位点。应用非条件Logistic回归模型，调整混杂因素后，分析各基因型与非肌层浸润性膀胱癌发生的关系以及与肿瘤临床病理特征之间的关系。结果膀胱癌组的XPC939Lys／Gln和XPC939Gin／Gin基因型频率（70．0％,63／90）显著高于对照组（60．9％，185／304），XPG1104Asp／His和XPG1104His／His基因型频率（79．2％，57／72）亦高于对照组（73．0％,203／278）。调整性别、年龄、吸烟等因素后，XPC939Lys／Gln和XPC939G1n／Gin基因型频率在膀胱癌患者中明显增高（校正OR为1．89，95％CI1．14～3．23，P=0．02）；XPG1104Asp／His和XPG1104His／His基因型频率在膀胱癌患者中轻度增高（校正OR为1．07．95％CI0．86～1．87，P0．048）。XRCC1Arg399Gln多态性与膀胱癌无关性（校正OR为1．15，95％C10．55～2．40，P=0．27）。XPC和XPG多态性与肿瘤临床病理特征之间均无相关性（P〉0．05）。结论XPCLys939Gln和XPGAsp1104His基因多态性与上海地区汉族人群非肌层浸润性膀胱癌易感件有关。

Objective To investigate the relationship between non muscle-invasive bladder cancer and polymorphisms of DNA repair genes among Han nationality in Shanghai. Methods From January 2006 to June 2008, 94 patients with non muscle-invasive bladder cancer and 304 controls were enrolled. Known single nucleotide polymorphism（SNP） in the XPC, XPG, XRCC1 genes were detec- ted by TaqMan real-time PCR. After adjusted for age, sex, and smoking, interaction effects of the genotypes and non muscle-invasive bladder cancer risk, genotypes and clinical and pathological features of bladder cancer were analyzed using unconditional Logistic regression. Results After adjusted for age, sex, and smoking, the XPC 939 Lys/Gln, XPC 939Gin/Gin genotype and XPG 1104 Asp/His, XPG 1104 His/His genotype were more frequent in patients with non muscle-invasive bladder cancer, adjusted OR=1. 89, 95%CI 1.14--3.23 andOR 1. 07,95%CI 0. 86-1. 87, respectively. The XRCC1 Arg399Gln polymorphisms were not significantly associated with non muscle-invasive bladder cancer, adjusted OR = 1. 15, 95% CI 0. 55 2. 40. There were no significant associations between tumor clinical and pathological features in patients who possessed either the XPC or XPG polymorphisms （P〉0.05）. Conclusion XPC Lys939Gln and XPG Aspll04His may modulate non muscle- invasive bladder cancer risk among Han nationality in Shanghai.