E-钙粘蛋白基因启动子区域单核苷酸多态性(-347G→GA)对大肠癌患者E-钙粘蛋白表达的影响  

Association between CDH1 promoter polymorphism (-347G→GA) and E-cadherin ex pression in sporadic colorectal cancer

作　　者：戴伟杰[1] 王琼[1] 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

出　　处：《南京医科大学学报（自然科学版）》2013年第8期1094-1098,共5页Journal of Nanjing Medical University(Natural Sciences)

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-347G→GA单核苷酸基因多态性(single nucleotide polymorphism,SNP)和散发大肠癌(colorectal cancer,CRC)人群E-钙粘蛋白表达的联系。方法:以江苏地区大肠癌患者群为研究对象,同时建立无肿瘤家族史以及其他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(polymerase chain 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不同基因型的大肠癌组织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(P>0.05),结肠癌组织E-钙粘蛋白表达量明显低于正常结肠组织(P<0.05)。50例正常结肠组织中GA基因型和G基因型的E-钙粘蛋白表达无统计学差异(P>0.05);48例结肠癌组织中,GA基因型E-钙粘蛋白表达量则明显低于G基因型(P<0.05)。结论:CDH1启动子区域-347G→GA单核苷酸基因多态性并不增加大肠癌的发病风险,但在肿瘤发生后可能影响其预后。Objective：To investigate the association of-347G→GA polymorphism located in the CDH1 gene promoter region with the expression of E-cadherin in sporadic colorectal cancer（CRC）.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 fragment 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（P 0.05）,there was no significant difference in E-cadherin expression for the GA-allele and G-allele in normal controls（P 0.05）,E-cadherin expression was lower for the GA-allele than for the G-allele in CRC patients（P 0.05）,which was no significant difference in normal controls（P 0.05）.Conclusion：The-347G→GA promoter polymorphism of CDH1 gene play no role in the etiology of CRC independently,but may be a prognostic factor during the progression of CRC.

关 键 词：E-钙粘蛋白 大肠癌 多态性 基因型 

分 类 号：R735.3[医药卫生—肿瘤]