SNP芯片联合质谱筛检胃癌相关基因3′UTR区SNPs的病例-对照研究  

A case-control study of SNPs in the 3'UTR region of digestive tumor associated genes-detected by SNP chip combined with time-of-flight mass spectrometry

作　　者：韩仁杰 吴传城[1] 刘宝英[1] 郭赛熊 陈昱[1] HAN Renjie;WU Chuancheng;LIU Baoying;GUO Saixiong;CHEN Yu(School of Public Health,Fujian Medical University,Fuzhou 350108;Xianyou County Hospital,Xianyou 351200,Fujian,China)

机构地区：[1]福建医科大学公共卫生学院,福建福州350108 [2]福建省莆田市仙游县医院,福建莆田351200

出　　处：《癌变．畸变．突变》2018年第5期359-364,共6页Carcinogenesis,Teratogenesis & Mutagenesis

基　　金：福建省自然科学基金(2015J01673);福建省医学创新课题(2016-CX-41)

摘　　要：目的:探讨胃癌发生相关基因3′非翻译区(3′UTR)单核苷酸多态性位点(SNPs),为寻找有价值的胃癌分子标志物提供新的依据。方法:采用1∶1配对病例-对照研究的方法。应用SNP芯片对福建省胃癌高发区仙游县96例胃腺癌患者与96例健康对照人群基因组中消化道肿瘤相关基因3′UTR区SNPs位点进行检测,应用飞行时间质谱分析质谱技术对芯片筛检出来的SNPs位点在622例胃癌患者和622例正常健康基因组中进行验证。结果:SNP芯片及生物信息学分析选取EGFR rs884225、EGFR rs10277413、FAS rs1468063、MSH2 rs17502941和MSH2 rs11125144为候选基因位点。对622对病例-对照组样本的上述候选基因位点进行SNP分型,均未发现上述5个位点与胃癌易感性相关。进一步分层分析结果发现EGFR rs884225中含有T等位基因的基因型(CT+TT)与贲门癌相关(OR=0.67,95%CI:0.46～0.99),而其他位点与贲门癌、非贲门癌的风险关联无统计学意义(P>0.05)。结论:EGFR基因3′非翻译区的rs884225多态性位点与福建省仙游县的贲门癌发生存在关联,T等位基因可能是贲门癌发生的一个遗传保护因素。OBJECTIVE：To explore the new miRNA target gene 3＇untranslated region （3＇UTR） single nucleotide polymorphism （SNPs） among digestive tumor associated genes, and their association with gastric carcinogenesis. METHODS： The 1 ： 1 matched case-control study was conducted. SNP microarray was used to detect the SNP loci of 3＇UTR region of digestive tract tumor-associated genes in 96 patients with gastric adenocarcinoma and 96 healthy controls in the high incidence area of gastric cancer in Xianyou County, Fujian Province. Time-of-flight mass spectrometry （TF- MS） was used to detect the SNP loci in 622 patients with gastric cancer and 622 healthy individuals. RESULTS： SNP chip and bioinformatics analyses selected EGFR rs884225, EGFR rs10277413, FAS rs1468063, MSH2 rs17502941 and MSH2 rs11125144 as candidate genes. The SNP genotyping of 622 candidate genes in the control group showed no correlation between the above 5 loci and susceptibility to gastric cancer. Further stratification analyses showed that the genotype （CT＋TT） with T allele in EGFR rs884225 was associated with cardiac cancer （OR=0.67, 95% CI： 0.46-0.99）, while other loci were not associated with the risk of cardiac cancer and non-cardiac cancer （P〉0. 05）. CONCLUSION ： The rs884225 polymorphism of EGFR gene 3＇untranslated region is associated with the occurrence and development of gastrie cancer in Xianyou County, a high incidence area of gastric cancer in Fujian Province. T allele may be a genetic protective factor for gastric cancer.

关 键 词：3’非翻译区 靶基因 单核苷酸多态性 胃癌 

分 类 号：R735.2[医药卫生—肿瘤]