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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 between single nucleotide polymorphism (SNP) of -347G → GA in promoter region of E-cadherin gene (CDH1) and genetic susceptibility of colorectal cancer (CRC) population in China Contact. Methods: Based on the study population of colorectal cancer patients in China, a control group with no family history of tumor and other hereditary diseases was established. Case-control study was carried out. Polymerase chain reaction-restriction fragment length polymorphism polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: There was no significant difference in the distribution frequency of the target genotype between the normal control group and the colorectal cancer group (χ2 test, P = 0.246). However, GA genotypes (GA / G heterozygotes and GA / GA pure (OR = 1.773, 95% CI = 1.174-2.679, P = 0.007). Meanwhile, the proportion of GA genotype in poorly differentiated colorectal adenocarcinoma was also significantly higher than that in the control group (OR = 2.623, 95% CI = 1.326-5.191, P = 0.007). Conclusion: The genotype GA of -347G → GA SNP in CDH1 promoter region may increase the risk of proximal colorectal cancer and poorly differentiated adenocarcinoma.