SNP rs951781影响食管癌患者的术后生存  

SNP rs951781 Affects Postoperative Survival of Patients with Esophageal Cancer

作　　者：孙琳[1,2] 宋昕 魏梦霞[1] 赵学科 徐瑞华[1] 李贝 范宗民[1] 韩雪娜[1] 陈亚杰[1,2] 钟侃 乔佳欣 马琳琳 谢叶真 王立东 SUN Lin;SONG Xin;WEI Meng-Xia;ZHAO Xue-ke;XU Rui-hua;LI Bei;FAN Zong-min;HAN Xue-Na;CHEN Ya-jie;ZHONG Kan;QIAO Jia-xin;MA Lin-lin;XIE Ye-zhen;WANG Li-dong(State Key Laboratory of Esophageal Cancer Prevention&Treatment and Henan Key Laboratory for Esophageal Cancer Research of the First Affiliated Hospital,Zhengzhou University,Zhengzhou,China,450052;Department of Pathology and Pathophysiology,School of Basic Medicine Science,Zhengzhou University,Zhengzhou,China,450052)

机构地区：[1]郑州大学第一附属医院省部共建食管癌防治国家重点实验室,河南郑州450052 [2]郑州大学基础医学院病理学与病理生理学教研室,河南郑州450052

出　　处：《食管疾病》2022年第1期1-4,共4页Journal of Esophageal Diseases

基　　金：国家自然科学基金面上项目(81872032)。

摘　　要：目的探讨巢蛋白(NES)基因单核苷酸多态性(SNP)位点rs951781对食管癌进展和预后的影响。方法对来自高发地区医院的199例食管癌患者的癌组织和癌旁配对组织,采用全外显子测序(WES)方法检测NES-rs951781基因SNP,比较不同SNP型(野生型纯合子CC型、突变型杂合子CT和突变型纯合子TT)分布频率,并用K-M曲线比较不同SNP型患者的生存期,用表达数量性状基因座(eQTL)技术对其进行功能注释。结果NES-rs951781存在SNP,野生型纯合子CC型占79.40%,突变型杂合子CT型占18.60%,突变型纯合子TT型占2.01%;野生型纯合子CC型的0.5、1、1.5 a生存率(87.97%、71.52%、58.23%)均低于突变型纯合子TT型。NES-rs951781对β-肌动蛋白(ACTB)的转录表达水平有trans-eQTL作用,使ACTB蛋白表达下调(beta=-0.43)。结论NES-rs951781位点TT基因型患者生存最好;NES-rs951781可能通过下调ACTB蛋白表达影响食管癌的发生发展。Objective To investigate the effect of SNP rs951781 of nestin(NES)gene on the progression and prognosis of esophageal cancer.Methods The SNP of NES-rs951781 gene was detected with whole exome sequence(WES)in the cancer tissues and adjacent paired tissues of 199 patients with esophageal cancer from hospitals in high incidence areas.The distribution frequencies of wild-type homozygous(CC type),mutant heterozygous(CT type)and mutant homozygous(TT type)of different SNP types were compared,and the survival times of patients with different SNP types were compared by K-M curve,The expression quantitative trait locus(eQTL)technique was used to annotate its function.Results SNPs were found in NES-rs951781,in which wild-type homozygous(CC type)accounted for 79.40%,mutant heterozygous(CT type)18.60%,and mutant homozygous(TT type)2.01%;The 0.5-year,1-year and 1.5-year survival rates of wild-type homozygous CC type(87.97%,71.52%and 58.23%)were lower than those of mutant homozygous TT type,respectively.Nes-rs951781 had trans eQTL effect on the transcriptional expression level of ACTB,and the expression of ACTB protein was down regulated(beta=-0.43).Conclusion Patients with TT genotype at NES-rs951781 had the best survival;NES-rs951781 affects the occurrence and development of esophageal cancer by down regulating the expression of ACTB protein.

关 键 词：单核苷酸多态性 食管癌 Β-肌动蛋白 全外显子测序 生存分析 

分 类 号：R735.1[医药卫生—肿瘤]