中文摘要：

目的探索NOD1和NOD2功能性单核苷酸多态性（single nucleotide polymorphisms,SNPs）位点与胃癌易感性的关系。方法采用病例对照研究设计,比较病例组与对照组先天免疫反应信号通路相关基因NOD1和NOD2功能SNPs的频率差异。结果携带NOD1 rs2906766 C等位基因,可显著增加60岁及以上的个体（调整OR=1.30,95%CI=1.02-1.65）、吸烟者（调整OR=1.38,95%CI=1.05-1.82）和H.pylori阴性者（调整OR=1.36,95%CI=1.03-1.79）发生胃癌的风险,但没有发现NOD2 rs3135500位点A〉G的改变与中国人群胃癌的发生有关联。结论 NOD1基因rs2906766位点C〉T的改变与中国人群胃癌的遗传易感性有关联,但需要在更大样本中验证这一结果,并开展功能学研究以揭示其潜在的生物学机制。

英文摘要：

Objective To test the hypotheses that the genetic variants of NODland NOD2 were associated with H. pylori-related gastric cancer susceptibility. Methods A case-control study of l 053 patients with incident gastric cancer and 1 100 cancer-free controls in a high-risk Chinese Han population was performed to detect the associations of functional polymorphisms in NODland NOD2 with gastric cancer risk in Chinese population, and to clarify the mechanism and risk genotypes of gastric cancer. Results Stratified analyses indicated that NOD1 rs2906766 C allele had significantly increased risk of gastric cancer among older （adjusted OR = 1.30, 95% CI = 1.02- 1.65）, smoker （adjusted OR = 1.38, 95% CI= 1.05-1.82） and individuals without H. pylori （adjusted OR = 1.36, 9596 CI= 1.03-1.79）. However, no significant association was found between NOD2 rs3135500 A〉G genotypes and gastric cancer risk. Conclusions Our results indicate that the genetic variant in NOD1 rs2906766 C〉T, may modulate the risk of gastric cancer in the Chinese population. However, further studies with functional evaluation of the SNP are warranted to replicate and extend the significance of the findings.