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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MassARRAYSNP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 investigate the association between rs763317 SNP in the first intron region of EGFR gene and genetic susceptibility to gastric cancer in Han nationality in Jiangxi province. Methods: The genotypes of rs763317 in 138 gastric cancer patients and 170 normal control EGFR gene polymorphisms were detected by MassARRAY SNP typing. The frequencies of genotypes and alleles in case group and control group were statistically analyzed by χ2 test. The non-conditional logistic regression analysis was used to calculate the odds ratio (OR) and 95% CI to evaluate the genetic predisposition to polymorphism Correlation. Results: The frequencies of AA, AG and GG genotypes of EGFR rs763317 polymorphism loci were 5.8%, 52.2% and 42.0% respectively in gastric cancer patients, which were significantly different from those in control subjects (2.4%, 31.8% and 65.9%) Meaning, P≤0.001. Compared with the rs763317GG genotype, individuals carrying the AA or AG genotype 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 distribution frequency of allele A in gastric cancer patients was significantly higher than that in the normal controls (OR = 3.277, 95% CI: 1.103-9.738). CONCLUSION: The rs763317 polymorphism of the first intron region of EGFR gene was found to be associated with the genetic predisposition of gastric cancer in Han population in Jiangxi Province.