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
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江苏省六大人才高峰项目(07-B-026)


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

    Abstract:

    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.

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戴伟杰,王 琼,杨晓钟. 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[J].南京医科大学学报(自然科学版),2013,(8):1094-1098

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  • 收稿日期:2012-11-11
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  • 在线发布日期: 2013-07-30
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