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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 investigate the relationship between the C / A SNP at promoter -160 of CDH1 gene and the expression of CDH1 in transitional cell carcinoma of the bladder (BTCC). Methods Thirty-six patients with BTCC, 24 males and 12 females, were collected for blood and bladder tumor samples. Control group of 36 patients, non-tumor patients, 30 males and 6 females, bladder specimens. PCR-restriction fragment length polymorphism was used to detect the C / ASNP at -160 upstream of CDH1 gene promoter in blood samples. The expression of CDH1 was detected by immunohistochemistry. The expression of CDH1 in two groups was compared, and the relationship between the expression of CDH1 and C / ASNP in BTCC was analyzed. Results The positive rates of CDH1 in BTCC group and control group were 61% (22/36) and 86% (31/36) respectively, P <0.05. In the 14 cases with CDH1 negative expression in BTCC group, there were 8 AA genotypes, 3 AC genotypes and 3 CC genotypes. The frequency of allele A was 68% (19/28). Among the 22 CDH1 positive cases, 3 cases, 11 cases of AC type, 8 cases of CC type, the frequency of allele A was 39% (17/44). The incidence of AA genotype was significantly different from AC and CC genotypes in both groups (P <0.05), A allele frequency difference was statistically significant (P <0.05). Conclusion CDH1 gene promoter -160 C / ASNP may play an important role in CDH1 expression in TBCC. A allele may play a major role in the down-regulation of CDH1 expression.