中文摘要：

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。

英文摘要：

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.