EGFR基因非翻译区单核苷酸多态性与胃癌遗传易感性之间的关系  

Association of single nucleotide polymorphism in untranslated region of EGFR gene with genetic susceptibility of gastric cancer

作　　者：张军峰[1,2] 张春兵 姚学权[4] 杨亚平[1] 吴娟[1] 杨学文[3] 赵旺胜[5] 佟书娟[12] 邱红 詹瑧[1,2] 

机构地区：[1]南京中医药大学基础医学院病原与免疫学教研室,江苏南京210023 [2]南京中医药大学中西医结合学科,江苏南京210023 [3]江苏省中医院检验科,江苏南京210029 [4]江苏省中医院消化肿瘤外科,江苏南京210029 [5]江苏省人民医院检验科,江苏南京210029 [6]中国人民解放军第八一医院检验科,江苏南京210002

出　　处：《肿瘤》2013年第4期321-326,共6页Tumor

基　　金：国家自然科学基金资助项目(编号:30973715,81001502);江苏省自然科学基金资助项目(编号:BK2008461);教育部高等学校博士学科点专项科研基金(编号:20103237110011);江苏高校优势学科建设工程基金资助项目(PAPD);江苏省高校自然科学研究项目(编号:10KJB360004);南京中医药大学优秀中青年教师支持计划

摘　　要：目的:分析表皮生长因子受体(epidermal growth factor receptor,EGFR)基因非翻译区单核苷酸多态性(single nucleotide polymorphism,SNP)与江苏省胃癌患者遗传易感性之间的关系。方法:收集387例胃癌患者和392例健康体检者(正常对照)的外周血,采用聚合酶链式反应-连接酶检测反应检测EGFR基因非翻译区rs6965469、rs884225、rs884904和rs763317等4个SNPs位点,分析其与胃癌遗传易感性之间的关系。结果:EGFR基因非翻译区rs6965469、rs884225、rs884904和rs763317的等位基因在胃癌组和健康对照组间的分布差异无统计学意义(P>0.05)。rs6965469TC基因型在胃癌组和正常对照组间的分布差异有统计学意义(P<0.05)。由rs6965469、rs884225和rs884904构建的单倍型TGA可显著增加胃癌的患病风险[比值比(oddsratio,OR)=3.52,95%置信区间(condence interval,CI)=2.34～5.29],而单倍型TAG则显著降低胃癌的患病风险(OR=0.41,95%CI=0.26～0.64)。结论:EGFR基因非翻译区T等位基因可能是胃癌发生的风险因素,联合检测rs6965469、rs884225和rs884904的SNPs有助于评估江苏地区胃癌的遗传易感性。Objective： This population-based study is aimed to investigate the association of SNP （single nucleotide polymorphism） in untranslated region of EGFR （epidermal growth factor receptor） gene with genetic susceptibility of gastric cancer in Jiangsu province, China. Methods： The peripheral blood samples from 387 patients with gastric cancer and 392 healthy volunteers （as normal controls） were collected. Four SNPs including rs6965469, rs884225, rs884904 and rs763317 in untranslated region of EGFR gene were detected by polymerase chain reaction-ligase detection reaction assay. The associations of these SNPs with the genetic susceptibility of gastric cancer were evaluated. Results： The SNP allele frequencies of rs6965469, rs884225, rs884904 and rs763317 were not significantly different between the patients with gastric cancer and the normal controls （P 〉 0.05）. The frequency of genotype rs6965469 TC was significantly different between the patients with gastric cancer and the normal controls （P 〈 0.05）. The haplotype TGA （rs6965469, rs884225 and rs884904） was associated with a significant increase in risk for gastric cancer [OR （odds ratio） = 3.52, 95% CI （confidence interval）： 2.34-5.29] while the haplotype TAG was associated with a significant decrease in risk for gastric cancer （OR = 0.41, 95% CI： 0.26-0.64）. Conclusion： The T allele polymorphism in untranslated region of EGFR gene may be associated with the genetic susceptibility of gastric cancer. Combined analysis of SNPs including rs6965469, rs884225 and rs884904 may be useful to predict the risk of gastric cancer in Jiangsu province, China.

关 键 词：胃肿瘤 表皮生长因子受体 非翻译区 多态性 单核苷酸 

分 类 号：R735.2[医药卫生—肿瘤]