EGFR基因rs763317多态性与胃癌遗传易感的相关性研究

Relationship of EGFR gene rs763317 single nucleotide polymorphism with genetic susceptibility of gastric cancer

目的:探讨EGFR基因第一内含子区rs763317位点单核苷酸多态性(SNP)与江西地区汉族人群胃癌遗传易感性的相关性。方法:应用MassARRAYSNP分型技术检测138例胃癌患者和170名正常对照EGFR基因多态位点rs763317的基因型。用χ2检验统计分析病例组和对照组基因型和等位基因的频率;采用非条件Logistic回归分析,计算比数比(OR)和95%CI,评价多态性位点与胃癌遗传易感性的相关性。结果:EGFRrs763317多态位点AA、AG和GG基因型在胃癌人群中的分布频率为5.8%、52.2%和42.0%,与对照组(2.4%,31.8%和65.9%)相比差异有统计学意义,P≤0.001。与rs763317GG基因型相比,携带AA或AG基因型的个体能显著增加患胃癌的发病危险(OR=3.909,95%CI:1.108～13.786;OR=2.540,95%CI:1.565～4.123)。等位基因A在胃癌患者的分布频率显著高于正常对照组(OR=3.277,95%CI:1.103～9.738)。结论:首次发现EGFR基因第一内含子区rs763317位点多态性与江西地区汉族人群胃癌的遗传易感性相关。

OBJECTIVE：To determine the association of EGFR rs763317 with the genetic susceptibility of gastric cancer in Chinese Han population from Jiangxi Province.METHODS：EGFR rs763317 was genotyped in a case-control population including 138 patients with gastric cancer and 170 controls by MassARRAYSNP genotyping.The genotype and allele frequencies were analyzed by Chi-square test in both groups.Logistic regression analysis,adjusted for age and sex,calculate odds ratio（OR）and 95% confidence interval（95% CI）to analyze the associations between the susceptibility of gastric cancer and genotypes.RESULTS：The frequencies of genotypes AA,AG and GG at SNP rs763317 were 5.8%,52.2% and 42.0% in gastric cancer patients,which were significantly different from that in controls（2.3%,31.8% and 65.9%）.Compared with GG genotype,homozygote and heterozygote variant forms（AA and AG）significantly increased the risk of developing gastric cancer（OR=3.909,95%CI：1.108-13.786;OR=2.540,95%CI：1.565-4.123）.The A allele frequency of rs763317 was significantly higher in patients with gastric cancer than in controls（OR=3.277,95%CI：1.103-9.738）.CONCLUSION：This is the first time to report that an association between the EGFR rs763317 polymorphism and genetic susceptibility of gastric cancer in Chinese Han population from Jiangxi Province.