CCNE1、RIP2基因多态性与膀胱癌发病风险的关系

目的 细胞周期蛋白 E1 （CCNE1） 基因和受体相互作用蛋白 2 （RIP2） 基因区域分别存在多态性位点 rs8102137 和 rs42490， 探讨这 2 种多态性与膀胱癌的发病风险及膀胱癌的病理分级和分期之间的关系。方法 收集膀胱癌患者 （膀胱癌组） 176 例及非肿瘤体检患者 （对照组） 210 例血样本并提取 DNA， 聚合酶链反应 （PCR） 测序方法检测 CCNE1 （rs8102137） 和 RIP2 （rs42490） 的多态性。根据术后病理结果确定膀胱癌患者的分级及分期。分析膀胱癌组和对照组中等位基因和基因型的分布差异。对 2 组间基因型的分布情况进行比较， 分析 CCNE1 （rs8102137） 和 RIP2 （rs42490） 各基因型与膀胱癌患者的临床资料间的关系， 及与膀胱癌遗传易感性的关系。结果 对照组样本的基因型分布具有良好的群体代表性。CCNE1 （rs8102137） 突变型 （C/T+C/C） 在膀胱癌组中频率 （40.91%） 高于对照组（30.95%， OR=1.54， 95%CI： 1.02～2.45， P＜0.05）。RIP2 （rs42490） 突变型 （A/G+G/G） 在膀胱癌组频率 （72.73%） 高于对照组 （62.38%， OR=1.61， 95%CI： 1.04～2.48， P＜0.05）。不同膀胱癌病理分级、 分期患者的 CCNE1 （rs8102137） 和 RIP2 （rs42490） 基因多态性差异无统计学意义。结论 CCNE1 （rs8102137）、 RIP2 （rs42490） 基因型与膀胱癌易感性关系密切， 携带突变型等位基因的个体患膀胱癌的风险显著高于野生型个体。

Association of genetic polymorphism of CCNE1 and RIP2 with bladder cancer risk

Abstract:Objective To evaluate the relationship between the CCNE1 or RIP2, identified at a single nucleotide poly? morphism, and the risk, clinic stage and pathological grade of bladder cancer. Methods Peripheral venous blood samples were obtained from 176 patients with bladder cancer and 210 controls without cancer. DNA was extracted. Polymerase chain reaction (PCR) method was used to detect CCNE1 (rs8102137) and RIP2 (rs42490) polymorphism. According to the postoper? ative pathological results, patients with bladder cancer were determined the grading and staging. The genotype differences of medium gene and the distribution gene were analyzed and compared in bladder cancer group and control group. The relation? ship of CCNE1 (rs8102137) and RIP2 (rs42490) genotypes and clinical data of patients with bladder cancer was analyzed, and the relationship of them with the genetic susceptibility to bladder cancer was also analyzed. Results The genotype dis? tribution was with good group representative in control group. The frequency of CCNE1(rs8102137) variant allele was signifi? cantly higher in bladder cancer group (40.91%) than that of control group (30.95%，OR=1.54， 95%CI: 1.02-2.45, P＜0.05). The frequency of RIP2 (rs42490) variant allele was significantly higher in bladder cancer group (72.73%) than that of control group (62.38%, OR=1.61, 95%CI: 1.04-2.48, P＜0.05). There were no significant differences in gene polymorphisms of CC? NE1(rs8102137) and RIP2 (rs42490) between different pathological grades and different clinical stages of bladder cancer. Conclusion The CCNE1 (rs8102137) and RIP2 (rs42490) polymorphism have interaction in occurrence of bladder cancer process. There is higher risk of bladder cancer in individuals carrying mutant alleles than that of individuals carrying wild type.