膀胱移行细胞癌CDH1基因启动子C/A单核苷酸多态性与其蛋白表达关系的研究  

Relationship between C/A SNP of CDH1 gene promoter and expression of CDH1 protei n in transitional cell carcinoma of the bladder

作　　者：阮黎[1] 张旭[1] 马鑫[1] 李功成[1] 黄皓[1] 张军[1] 付斌[1] 

机构地区：[1]华中科技大学附属同济医院泌尿外科,武汉430030

出　　处：《中华泌尿外科杂志》2005年第9期595-597,共3页Chinese Journal of Urology

基　　金：国家自然科学基金资助项目(30471737)

摘　　要：目的探讨膀胱移行细胞癌(BTCC)中E-钙粘连素(CDH1)基因启动子-160处C/A单核苷酸多态性(SNP)与CDH1表达的关系。方法BTCC患者36例,男24例,女12例,分别取血液和膀胱肿瘤组织标本。对照组36例,为非肿瘤患者,男30例,女6例,取膀胱组织标本。PCR-限制性片段长度多态性分析法检测血液标本中CDH1基因启动子上游-160处C/ASNP。免疫组化方法检测组织CDH1的表达情况。比较2组组织CDH1表达情况,分析BTCC组C/ASNP与CDH1表达的关系。结果BTCC组和对照组CDH1阳性率分别为61%(22/36)和86%(31/36),P<0.05。BTCC组14例CDH1表达阴性者中,AA基因型8例、AC型3例、CC型3例,A等位基因频率为68%(19/28);22例CDH1表达阳性者中,AA型3例、AC型11例、CC型8例,A等位基因频率为39%(17/44);2组中AA基因型发生率与AC、CC基因型比较差异均有统计学意义(P<0.05),A等位基因频率比较差异有统计学意义(P<0.05)。结论CDH1基因启动子-160处C/ASNP在TBCC的CDH1表达过程中可能具有重要作用,A等位基因对CDH1表达下调可能发挥主要作用。Objective To study the relationship between C/A single nucleotide polymorphism （SNP） of E-cadherin （CDH1） gene promoter and expression of CDH1 protein in bladder transitional cell carcinoma （BTCC）. Methods Samples were taken from the blood and bladder carcinoma tissue of 36 cases of BTCC （24 men and 12 women） and from bladder tissue of 36 non-tumor cases （control group, 30 men and 6 women）. In both groups, the SNP at 160 position of CDH1 gene promoter was determined by analyzing blood specimens using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）; and the expression of CDH1 protein of paraffin-embedded tissue was detected by immunohistochemistry. The CDH1 expression was compared between the 2 groups; and the association between C/A SNP and CDH1 expression in BTCC group was analyzed, Results The positive rates of CDH1 in BTCC and control groups were 61% （22/36） and 86% （31/36）, respectively （P〈0.05）, In BTCC group, of 14 cases who had negative expression for CDH1, 8 had AA genotype, 3 had AC genotype and 3 had CC genotype; and A allele frequency was 68% （19/28）; of 22 cases who had positive expression for CDH1, 3 had AA genotype, 11 had AC genotype and 8 had CC genotype; and A allele frequency was 39% （17/44）. In the 2 groups, the differences between the incidence of AA genotype and those of AC, CC genotypes were both statistically significant （P〈0.05 ）; and the difference of A allele frequency between the 2 groups was significant （P〈0.05）, Conclusions The SNP at 160 position of CDH1 gene promoter may play an important role in regulating expression of CDH1 in BTCC, and the down-regulation of CDH1 by A allele may be an important factor as well.

关 键 词：膀胱肿瘤 E-钙粘连素 单核苷酸多态性 蛋白质 膀胱移行细胞癌 基因启动子 C/A单核苷酸多态性 限制性片段长度多态性分析法 表达关系 单核苷酸多态性(SNP) 

分 类 号：R737.14[医药卫生—肿瘤] R737.250.2[医药卫生—临床医学]