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目的探讨SMAD7基因上位点rs8085824多态性与胃癌、肠癌易感性的关系。方法利用Sequenom系统对来自上海汉族人群的250例胃癌患者,229例肠癌患者及303例健康对照组进行位点rs8085824检测,并利用非条件Logistic回归对检测结果进行相关统计。结果 rs8085824位点多态性在胃癌病例对照组显性遗传模型中有显著性差异,携带等位基因T的CT-TT基因型与CC基因型相比较,OR值为2.564(95%CI:1.152～5.704,P=0.021),rs8085824位点多态性分布在肠癌组中没有出现显著性差异。结论 SMAD7基因的位点rs8085824多态性位点与胃癌发病风险相关并符合显性遗传模型,与肠癌发病风险无相关性。
Objective To investigate the association of rs8085824 polymorphism at SMAD7 locus with susceptibility to gastric cancer and colon cancer. Methods The sequence of rs8085824 was detected in 250 gastric cancer patients, 229 intestinal cancer patients and 303 healthy controls from Shanghai Han population by using Sequenom system. The results were analyzed using non-conditional Logistic regression. Results rs8085824 polymorphism was significantly different in the dominant genetic model of gastric cancer patients. The OR of CT-TT genotype carrying allele T and CC genotype was 2.564 (95% CI: 1.152 ~ 5.704, P = 0.021). There was no significant difference in the distribution of rs8085824 polymorphism between the two groups. Conclusion The rs8085824 polymorphism site of SMAD7 gene is associated with the risk of gastric cancer and is consistent with the dominant genetic model, which is not associated with the risk of developing colorectal cancer.