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

Effects of AHDC1 genetic variation and clinicopathological factors on survival of patients with esophageal cancer from high- and low-incidence areas

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。

Aim：To study the influence of AHDC1 genetic variation and changes in clinicopathology on survival of esophageal cancer（EC）patients from the high- and low-incidence areas,and to highlight the molecular mechanism of EC prognosis.Methods：Home interview,questionnaire,telephone follow-up and hospital pathology verification were applied to get the clinical pathology and survival data of 3 478 cases of EC.Fasting peripheral blood samples were collected for each patient.The Taqman method was used to detect the variation of rs4908343 locus on AHDC1 gene.Results：Five-year survival rate of the patients with AA/AG genotypes of AHDC1 was higher than those with GG genotype（χ2=6.650,P=0.010）.The patients with superficial infiltration,without lymph node metastasis,at early stage,accepted surgery,or living in high-incidence area of EC had higher 5-year survival rate（χ2=52.756,39.087,61.314,75.635,175.205,P0.05）.Cox multivariable analysis showed that GG genotype of AHDC1,advanced stage,and low-incidence area were the independent prognostic factors for EC patients（P0.05）.Conclusion：Cenotype of AHDC1 gene,clinical stage and high- and low-incidence area are important factors affecting the prognosis of EC patients.