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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: To analyze the relationship between single nucleotide polymorphism (SNP) of non-translated region of epidermal growth factor receptor (EGFR) gene and genetic predisposition of gastric cancer patients in Jiangsu Province. Methods: Peripheral blood of 387 gastric cancer patients and 392 healthy controls (normal controls) were collected. The four SNPs (rs6965469, rs884225, rs884904 and rs763317) of EGFR gene nontranslated region were detected by polymerase chain reaction - Point, analyze the relationship between genetic susceptibility to gastric cancer. Results: The alleles of rs6965469, rs884225, rs884904 and rs763317 in the untranslated region of EGFR gene were not significantly different between the gastric cancer group and the healthy control group (P> 0.05). The distribution of rs6965469TC genotype was significantly different between gastric cancer group and normal control group (P <0.05). The haplotype TGA constructed by rs6965469, rs884225 and rs884904 significantly increased the risk of gastric cancer (odds ratio (OR) = 3.52, 95% confidence interval (CI) = 2.34-5.29) Type TAG significantly reduced the risk of gastric cancer (OR = 0.41, 95% CI = 0.26-0.64). Conclusion: T allele of EGFR gene untranslated region may be a risk factor for gastric cancer. Combined detection of rs6965469, rs884225 and rs884904 SNPs may be helpful in assessing genetic susceptibility to gastric cancer in Jiangsu Province.