亚甲基四氢叶酸还原酶MTHFR基因C677T多态性与食管癌预后的关系

【摘要】 目的：旨在探討亚甲基四氢叶酸还原酶MTHFR基因C677T多态性与食管癌生存期的关系。方法：收集155例在川北医学院附属医院确诊的食管鳞癌患者，调查患者的生活习惯并收集病理资料，采用限制性片段长度多态检测（PCR-RFLP）的方法检验研究对象的MTHFR基因型，使用Pearon 字2检验评估MTHFR基因C677T多态性与食管癌患者性别、年龄、吸烟、饮酒、食用水果习惯、病变长度等临床资料及病理特点之间的关系。用Kaplan-Meier方法和Cox回归模型分析基因型与患者总生存时间之间的相关性。结果：携带MTHFR三个不同基因型（突变型、野生型、杂合型）的总生存时间比较差异无统计学意义（P=0.462），而淋巴结转移阳性食管癌患者的总生存时间比较明显短于淋巴结转移阴性者（P=0.000），TNM分期Ⅲ期食管癌患者的总生存时间明显短于Ⅲ期以下者（P=0.002）。多变量Cox回归分析发现淋巴结转移、TNM分期是影响食管癌生存时间的独立风险因素（P<0.05），而性别、年龄、吸烟、饮酒、水果习惯、UGIC史、病变长度、首发症状、病变长度、MTHFR基因C677T多态性与食管癌的预后无关。结论：MTHFR基因C677T单核苷酸多态性可能与食管癌患者的预后无关，淋巴结转移和TNM分期可以提示预后。

【关键词】 食管癌； 多态性； MTHFR； 预后

【Abstract】 Objective：To discuss the relationship between methylenetetrahydrofolate reductase（MTHFR） C677T polymorphism and the prognosis of esophageal cancer.Method：A total of 155 patients with esophageal squamous cell carcinomas which were diagnosed in Affiliated Hospital of North Sichuan Medical College.Survey patients" habits and collect their pathological data.MTHFR C677T polymorphism in these patients were determined by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism（PCR-RFLP）methods.Pearon chi-square was used to discuss the relationship between MTHFR gene C677T polymorphisms and the clinical data and pathological characteristics，such as patients’ gender，age，smoking，drinking，eating fruit habits，length of lesion and so on.Kaplan Meier method and Cox regression model were used to analyze the correlation between genotypes and total survival time of patients.Result：Overall survival（OS） of patients with MTHFR gene C677T mutation type TT，OS of patients with wild type CC and MST of patients with hybrid type CT were not significant different（P=0.462）.OS of patients with lymph node metastasis was lower than that with negative lymph node metastasis（P=0.000）.OS of patients in stage Ⅲ was significantly was lower than that of below stageⅢ（P=0.002）.Cox multivariate analysis showed that lymph node metastasis and TNM stage were risk factors influencing survival（P<0.05）.However，gender，age，smoking，drinking，habits of fruit，UGIC history，length of lesion，original symptom and MTHFR C677T polymorphisms were not related to the prognosis of patients with esophageal cancer.Conclusion：Polymorphisms of MTHFR C677T may have nothing to do with the prognosis of patients with esophageal cancer.Lymph node metastasis and TNM stage may be potential prognostic factors to esophageal cancer patients.

【Key words】 Esophageal cancer； Polymorphisms； MTHFR； Prognosis

doi：10.3969/j.issn.1674-4985.2017.20.001