E-钙粘蛋白基因启动子区域单核苷酸基因多态性(-160A/C)和大肠癌遗传易感性的联系  

Association of-160A/C Single Nucleotide Polymorphism in E-cadherin Gene Promoter Region with Colorectal Cancer in China

作　　者：王琼[1] 高成城[1] 戴伟杰[1] 邹晓平[2] 杨晓钟[1] 

机构地区：[1]南京医科大学附属淮安第一医院消化科,江苏淮安223300 [2]南京大学附属鼓楼医院消化科,江苏南京210008

出　　处：《现代生物医学进展》2010年第24期4621-4625,共5页Progress in Modern Biomedicine

基　　金：江苏省六大人才高峰项目(07-B-026)

摘　　要：目的:探讨E-钙粘蛋白基因(CDH1)启动子区域-160A/C单核苷酸基因多态性(single nucleotide polymorphism,SNP)和中国地区散发大肠癌(colorectal cancer,CRC)人群遗传易感性的联系。方法:以中国地区大肠癌病人群为研究基础,同时建立无肿瘤家族史以及其它遗传性疾病史的正常对照组,进行病例对照研究,采用聚合酶链反应-限制性片段长度多态性技术(polymerasechain reaction-restriction fragment length polymorphism,PCR-RFLP)行目的基因的多态性测定,同时行正常结肠组织和大肠癌组织的E-钙粘蛋白的免疫组化测定。结果:正常对照组和大肠癌组的目的基因型分布频率并无统计学差异(x2检验,P=0.602),同时A基因型和C基因型在正常结肠组织和大肠癌组织中E-钙粘蛋白的表达量也并无差异(t检验,P>0.05)。结论:CDH1启动子区域-160A/C单核苷酸基因多态性中并不单独增加大肠癌的发病风险。Objective：To investigate the association of-160A/C polymorphism located in the CDH1 gene promoter region with risk of developing colorectal cancer（CRC） in China.Methods： The case-control study was designed,based on the population of colorectal cancer in China and healthy normal controls who have no tumor or inherited disease history.Polymerase chain reaction-restriction frag-ment length polymorphism（PCR-RFLP）was used to genotype the variant,and immunohistochemical staining was performed to measure the expression of E-cadherin in different allele cases among the CRC patients and normal controls.Results： There was no significant difference in the genotype frequencies of the polymorphism between normal controls and CRC patients（x2test,P=0.602）,there was no significant difference in E-cadherin expression for the A-allele and C-allele in normal controls and CRC（t-test,P 0.05）.Conclusion： The-160A/C promoter polymorphism of CDH1 gene may play no role in the etiology of CRC independently.

关 键 词：E-钙粘蛋白 大肠癌 多态性 基因型 

分 类 号：R735.34[医药卫生—肿瘤]