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目的:探讨AHDC1基因变异及临床病理指标对食管癌高低发区患者生存期的影响,加深对食管癌预后分子机制的认识。方法:采用入户家访、现场问卷普查、电话随访和住院病理核查等方法收集3478例食管癌患者的临床病理资料和死亡情况;采集每例患者空腹外周静脉血5mL,采用Taqman基因分型技术检测AHDC1基因rs4908343位点的变异情况。结果:Kaplan-Meier分析显示AHDC1基因AA/AG型患者5a生存率高于GG型患者,浸润黏膜层患者高于浸润肌层和浆膜层患者,无淋巴结转移患者高于有淋巴结转移患者,早期患者高于中晚期患者,手术治疗的患者高于非手术患者,食管癌高发区患者高于低发区患者(χ2=6.650、52.756、39.087、61.314、75.635、175.205,P均<0.05);Cox回归模型分析提示AHDC1基因GG型[RR(95%CI)=1.197(1.008～1.421)]、中晚期[RR(95%CI)=2.004(1.358～2.956)和3.594(2.392～5.399)]及低发区[RR(95%CI)=2.891(2.243～3.726)]影响食管癌患者的预后(P均<0.05)。结论:AHDC1基因型、临床分期及高低发区是影响食管癌预后的重要因素。
Objective: To investigate the influence of AHDC1 gene mutation and clinicopathological parameters on the survival of patients with esophageal cancer in high and low incidence area, and to deepen the understanding of the molecular mechanism of esophageal cancer prognosis. Methods: The clinical and pathological data and deaths of 3478 patients with esophageal cancer were collected by home visit, site survey, telephone follow-up and inpatient pathological examination. Fasting peripheral venous blood was collected from 5 mL in each patient and detected by Taqman genotyping Variation of rs4908343 locus in AHDC1 gene. Results: The Kaplan-Meier analysis showed that the 5-year survival rate of AHDC1 gene AA / AG patients was higher than that of GG patients. The patients with invasive mucosa were higher than the patients with infiltrating myometrial and serosal layers, the patients without lymph node metastasis were higher than the patients with lymph node metastasis, The patients with advanced esophageal cancer were higher than the patients with advanced esophageal cancer and the patients with surgical treatment were higher than those without esophageal cancer (χ2 = 6.650,52.756,39.087,61.314,75.635,175.205, P <0.05). Cox Regression analysis showed that the ratio of RR (95% CI) = 1.197 (1.008-1.421), RR (95% CI) = 2.004 (1.358-2.956) and 3.594 (2.392-5.399) Hair loss [RR (95% CI) = 2.891 (2.243 ~ 3.726)] affected the prognosis of esophageal cancer patients (all P <0.05). Conclusion: The genotypes, clinical stage and high-low incidence area of AHDC1 are important factors affecting the prognosis of esophageal cancer.