肝细胞肝癌CDH1基因启动子C/A单核苷酸多态性与蛋白表达的关系

目的 探讨原发性肝细胞肝癌CDH1基因启动子-160位点的C/A单核苷酸多态性(SNP)与其蛋白表达的关系.方法 以34例肝癌手术病人为对象,DNA直接测序法检测其血液标本中CDH1基因启动子-160位点C/A SNP,免疫组化法检测组织标本中CDH1的蛋白产物--上皮钙黏素(E-cadherin)的表达情况,比较分析C/A SNP与E-cadherin表达的关系.结果 E-cadherin高表达组18例(52.9%),低表达组16例(47.1%),两组的基因型出现率CC与CA,AA比较差异均有统计学意义(P<0.05),CA与AA间差异无统计学意义(P>0.05),A、C等位基因频率在两组差异有统计学意义(P<0.05).结论 CDH1基因启动子-160位点的C/A SNP在肝癌E-cadherin表达中可能发挥重要作用,且A等位基因的出现与E-cadherin表达下调相关.

Relationship between-160C/A polymorphism in CDH1 gene promoter and protein expression in hepatocellular carcinoma

Objective To investigate the relationship between-160C/A single nucleotide poly-morphism(SNP) in the CDH1 gene promoter and protein expression in hepatocellular carcinoma. Methods Samples were taken from 34 patients with hepatocellular carcinoma and -160 C/A SNP of CDH1 gene promoter was detected by blood specimens adopting direct DNA sequencing. The expres-sion of E-cadherin which encoded by CDH1 gene was determined by paraffin-embedded tissue using immunohistochemistry and the association between -160 C/A SNP and protein expression was ana-lyzed. Results The high and low expression of E-cadherin was observed in 18 cases(52.9%) and 16 cases(47.1%). In these two groups, the difference of the incidence between CC genotype and CA, AA genotype was statistically significant(P<0.05) whereas there was no marked difference between CA and AA genotype. The difference of both A and C allele frequency was significant(P<0.05). Conclusion The -160 C/A SNP of the CDH1 gene promoter may play an important role in regulating the expression of E-cadherin in hepatocellular carcinoma and the incidence of A allele is associated with down-regulation of E-cadherin expression.