E-钙粘蛋白基因启动子区域单核苷酸基因多态性(-347G→GA)和大肠癌遗传易感性的联系

Association of Single Nucleotide Polymorphism in E-cadherin Gene Promoter Region with Colorectal Cancer in a Chinese Population

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(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)行目的基因的多态性测定。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=0.246),而近端大肠癌患者中GA基因型(GA/G杂合子和GA/GA纯合子)比例明显高于对照组(OR=1.773,95%CI=1.174-2.679,P=0.007),同时低分化大肠腺癌GA基因型比例也明显高于对照组(OR=2.623,95%CI=1.326-5.191,P=0.007)。结论:CDH1启动子区域-347G→GA单核苷酸基因多态性中GA基因型可能增加近端大肠癌以及低分化腺癌的发病风险。

Objective：To investigate the association of-347G→GA 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 fragment length polymorphism（PCR-RFLP）was used to genotype the variant.Results：There was no significant difference in the genotype frequencies of the polymorphism between normal controls and CRC patients（x2test,P=0.246）,but we found that the GA genotype（G/GA heterozygous and GA homozygous）was more common in proximal CRC patients than in normal controls（OR=1.773,95% CI=1.174-2.679,P=0.007）,which was also found in poorly differentiated CRC patients（OR=2.623,95%CI=1.326-5.191,P=0.007）.Conclusion：The-347G→GA promoter polymorphism of CDH1 gene may play a role in the etiology of proximal CRC and poorly differentiated CRC.