CDH1基因3’非编码区单核苷酸多态性与食管癌、贲门癌的关系

Association of C/T polymorphism in the 3' untranslated region of the CDH1 gene with esophageal squamous cell carcinomas and gastric cardiac adenocarcinomas

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 association of ＋54C/T single nucleotide polymorphisms in 3＇ untraslated region（UTR）of the CDH1 gene with susceptibilities and lymphatic metastases of esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma. Methods The CDH1 ＋54C/T SNP was genotyped by polymerase-chain reaction-restriction fragment length polymorphism （PCRRFLP ） analysis in 333 esophageal squamous cell carcinoma patients, 239 gastric cardiac adenocarcinoma patients and 343 healthy controls. Results A significant difference was observed in the CDH1 allelotype distribution among esophageal squamous cell carcinoma, gastric cardiac adenocarcinoma patients and healthy controls （X^2 = 3. 98 and 23. 73, P = 0. 046 and 0. 000, respectively）. Individuals with the ＋54C allele （C/T＋C/C genotype） had significantly higher risk to develop esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma compared with the T/ T genotype. Stratification analysis found that individuals with the C allele （C/T or C/C genotype） were more prone to develop esophageal squamous cell carcinoma or gastric cardiac adenocarcinoma only among non smokers. In addition, the association showed only significant among individuals with negative family history of upper gastrointestinal cancer. The relationship between the CDH1 ＋54C/T polymorphism and lymphatic metastasis in esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma was not observed. Conclusion The CDH1 3＇UTR ＋ 54C/T SNP may modify the susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in Northern China.