XPC、XPD、XPG基因多态与膀胱癌及其病理参数的相关性研究  

A study on the association of polymorphisms in XPC,XPD,XPG risk of bladder cancer and its clinicopathological parameters

作　　者：朱成宾[1] 邓齐文[1] 徐郑[2] 朱佳庚[2] 

机构地区：[1]南京医科大学附属南京医院检验科,江苏南京210006 [2]南京医科大学附属南京医院泌尿外科,江苏南京210006

出　　处：《南京医科大学学报（自然科学版）》2014年第10期1355-1359,1370,共6页Journal of Nanjing Medical University(Natural Sciences)

基　　金：南京市医学科技发展项目(YKK11116);南京医科大学科技发展基金项目(2010NJMU241)

摘　　要：目的 ：探讨XPC（rs2228000、rs2228001、rs2470352）、XPD（rs13181）、XPG（rs17655）3个基因的5个多态性位点的基因型与膀胱癌及其病理参数的相关性。方法：采用病例对照研究,采用Massarray SNP检测技术对287例膀胱癌患者和282例正常人XPC、XPD、XPG基因的5个基因多态性位点的基因型分布进行分析。采用Logistic回归模型分析各基因型与膀胱癌发病的关系并比较不同基因型与膀胱癌及其病理参数的关系。结果：XPC rs2228000位点在病例及对照组中分布有显著性差异（χ^2=21.949,P〈0.001）,其中CT及TT基因型在病例组中的频率显著高于对照组,差异有统计学意义（CT vs CC：OR=2.01,95%CI 1.41~2.88;TT vs CC：OR=3.06,95%CI 1.70~5.49）;T等位基因携带者在病例组中的分布频率亦高于对照组,差异有统计学意义（CT/TT vs CC：OR=2.16,95%CI 1.58~3.11）。rs17655、rs2228000及rs2228001位点的基因型分布频率在不同分化程度的肿瘤中差异有统计学意义（rs17655：χ2=10.013,P=0.040;rs2228000：χ^2=13.836,P=0.008;rs2228001：χ^2=14.315,P=0.006）,rs2228000位点的基因型分布频率与远端转移差异有统计学意义（rs2228000：χ^2=12.204,P=0.002）。结论 ：XPC rs2228000位点与膀胱癌的发病相关,含T等位基因个体膀胱癌的相对风险高,且与膀胱癌的肿瘤分化程度及淋巴结远端转移相关。rs2228001及XPG rs17655位点的基因多态性与肿瘤的分化程度相关。Objective：To investigate the relationship between the polymorphisms in XPC（rs2228000,rs2228001,rs2470352）,XPD（rs13181）,XPG（rs17655）and pathologic characterize as well as risk of bladder cancer. Methods：A case-control study was carried out based on 287 patients with bladder cancer and 282 health controls. The genotype of the polymorphisms of XPC,XPD and XPG was detected by massarray SNP. Logistic regression was applied to assess the association between the polymorphisms and risk and pathologic characterize of bladder cancer. Results：There was a significant difference of genotype distribution of XPC rs2228000 in patients and health controls（χ^2=21.949,P 〈 0.001）,and the CT and TT genotype frequencies in patients were higher than those in health controls（CT vs CC：OR=2.01,95% CI 1.41-2.88;TT vs CC：OR = 3.06,95% CI 1.70-5.49）;Moreover,the frequencies of those patients who carried T allele were higher than those in controls（CT / TT vs CC：OR = 2.16,95% CI 1.58-3.11）. There were significant differences of the genotype frequencies of rs17655,rs2228000 and rs2228001 among the patients with different tumor differentiation degree（rs17655：χ^2= 10.013,P = 0.040;rs2228000：χ^2= 13.836,P = 0.008;rs2228001：χ^2= 14.315,P = 0.006）;moreover,a significant difference of genotype distribution of XPC rs2228000 was observed among those patients who with or without tumor distal metastasis（rs2228000：χ^2= 12.204,P = 0.002）. Conclusion：The genotype of XPC rs2228000 was associated with the risk of bladder cancer and tumor differentiation degree and distal metastasis,and those who carried with T allele have higher risk of bladder cancer;Moreover,the genotypes of XPC rs2228001 and XPG rs17655 were associated with tumor differentiation degree.

关 键 词：膀胱癌 XPC XPD XPG 基因多态性 

分 类 号：R737.14[医药卫生—肿瘤]