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目的:探讨CDH1基因3’非编码区(untranslated region,UTR)+54 C／T单核苷酸多态性与中国北方人食管鳞状细胞癌、贲门腺癌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分析方法检测了333例食管鳞状细胞癌患者、239例贲门腺癌患者和343名健康对照的CDH1+54C／T单核苷多态性的基因型。结果: CDH1 3’UTR+54C等位基因在食管鳞状细胞癌、贲门腺癌患者组和健康对照组中的分布有统计学差异(P＝0.046和0.000)。与T／T基因型相比,携带C等位基因(C／T+C／C基因型)可显著增加食管鳞状细胞癌和贲门腺癌的发病风险。根据个体吸烟状况和上消化道肿瘤家族史进行分层分析发现,与T／T基因型相比,携带C等位基因(C／T+C／C基因型)可使非吸烟个体食管鳞状细胞癌和贲门腺癌的发病风险增加约2～3倍以及家族史阴性个体食管鳞状细胞癌和贲门腺癌的发病风险增加约2倍。本研究未发现该单核苷多态性对食管鳞状细胞癌和贲门腺癌淋巴结转移的影响。结论:CDH1 3’UTR+54C／T多态性可能与食管鳞状细胞癌和贲门腺癌的易感性相关。
Objective: To investigate the relationship between the 3 ’untranslated region (UTR) +54 C / T SNP of CDH1 gene and the susceptibility to esophageal squamous cell carcinoma, gastric cardia adenocarcinoma and lymph node metastasis in northern China. Methods: CDH1 + 54C / T polymorphisms of 333 cases of esophageal squamous cell carcinoma, 239 cases of cardiac adenocarcinoma and 343 healthy controls were detected by polymerase chain reaction restriction fragment length polymorphism Genotype. Results: The distribution of CDH1 3 ’UTR + 54C alleles in esophageal squamous cell carcinoma, GCA patients and healthy controls were statistically different (P = 0.046 and 0.000). Compared with the T / T genotype, C allele (C / T + C / C genotype) significantly increased the incidence of esophageal squamous cell carcinoma and gastric cardia adenocarcinoma. Stratified analysis of individual smoking status and family history of upper gastrointestinal cancer found that carrying the C allele (C / T + C / C genotype) compared with T / T genotypes could lead to esophageal squamous The risk of developing cancer of the cardia and adenocarcinoma is about 2 to 3 times as high as that of esophageal squamous cell carcinoma and cardia adenocarcinoma. This study did not find the single nucleotide polymorphisms on esophageal squamous cell carcinoma and gastric cardia adenocarcinoma of lymph node metastasis. Conclusion: CDH1 3 ’UTR + 54C / T polymorphism may be associated with the susceptibility of esophageal squamous cell carcinoma and gastric cardia adenocarcinoma.