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背景与目的:E-钙粘蛋白(E-cadherin,CDH1)是钙粘蛋白家族中的一个成员,与肿瘤侵袭转移密切相关。该基因启动子区存在的多态性位点可通过改变转录活性而影响该蛋白的表达。本研究旨在探讨该基因启动子区C-160A和G-347GA单核苷多态性(single nucleotide polym orphism,SNP)与中国北方人食管鳞状细胞癌(esophagealsquam ous cellcarcinom a,ESCC)、贲门腺癌(gastric cardiacadenocarcinom a,GCA)易感性和淋巴结转移的关系。方法:采用聚合酶链反应-限制性片段长度多态性(polym erase chain reaction-restrictionfragm entlength polym orphism,PCR-RFLP)分析方法检测333名ESCC患者、239名GCA患者和343名健康对照的CDH1C-160A及G-347GA SNP的基因型。结果:CDH1C-160A及G-347GA SNP的基因型及等位基因型分布在总体ESCC患者、GCA患者和健康对照中无显著性差异(P=0.08)。根据吸烟状况及上消化道肿瘤家族史分层分析及淋巴结转移状况的分析也未发现CDH1SNPs对ESCC和GCA发病及淋巴结转移的影响。然而,与G-347GA G/G基因型相比,携带GA等位基因(G/GA+GA/GA基因型)可显著增加GCA患病风险,经性别、年龄校正后的OR值为1.45(95%CI=1.03~2.04)。应用EH软件分析显示,CDH1单体型分布在ESCC患者组和健康对照组存在显著性差异
BACKGROUND & AIM: E-cadherin (CDH1) is a member of the cadherin family and is closely related to tumor invasion and metastasis. Polymorphic sites present in the promoter region of the gene may influence the expression of the protein by altering transcriptional activity. The aim of this study is to investigate the relationship between single nucleotide polymorphism (SNP) of C-160A and G-347GA in esophageal squamous cell carcinoma (ESCC) Relationship between gastric cardiac adenocarcinoma (GCA) susceptibility and lymph node metastasis. Methods: PCR-RFLP was used to detect the expression of CDH1C-1 in 333 ESCC patients, 239 GCA patients and 343 healthy controls. 160A and G-347GA SNP genotypes. RESULTS: There was no significant difference in genotype and allele distribution between CDH1C-160A and G-347GA SNPs in overall ESCC patients, GCA patients and healthy controls (P = 0.08). According to smoking status and family history of upper gastrointestinal cancer stratification analysis and lymph node metastasis analysis did not find CDH1 SNPs on ESCC and GCA incidence and lymph node metastasis. However, carrying the GA allele (G / GA + GA / GA genotype) significantly increased the risk of GCA compared to the G-347GA G / G genotype, with a sex- and age-adjusted OR of 1.45 95% CI = 1.03 ~ 2.04). EH software analysis showed that CDH1 haplotype distribution in ESCC patients and healthy controls there was a significant difference