中文摘要：

目的：探讨碱基错配修复（mismatch repair,MMR）基因hMLH1启动子多态性位点-93G〉A与中国江苏人群胃癌发生风险的关联性。方法：以554例胃癌患者和582例年龄（±5岁）、性别相匹配的非胃癌患者（对照组）作为研究对象,用TaqMan MGB（minor grove binder）探针对hMLH1-93G〉A多态性进行基因分型,分析不同基因型与胃癌发生风险的关联性。通过分层分析探讨不同基因型与胃癌临床病理特征之间的关联性。结果：hMLH1-93G〉A的突变型GA和AA基因型频率在病例组和对照组的分布无显著关联性,病例组：GA262例（47.3%）,AA187例（33.8%）;对照组：GA269例（46.2%）,AA190例（32.7%）;P值分别为0.636和0.398,合并突变基因型GA＋AA与野生型GG相比并不显著增加胃癌的发生风险（调整OR=1.11,95%CI=0.82～1.51,P=0.487）。不同基因型与胃癌临床病理特征之间亦无显著关联性。结论：hMLH1基因-93G〉A多态性与胃癌发生风险无显著关联。

英文摘要：

Objective：To evaluate the association between the mismatch repair gene hMLH1-93G〉A promoter polymorphism and risk of gastric cancer in a population of Jiangsu province in China. Methods：Total of 554 patients with gastric cancer cases and 582 cancer-free controls frequency-matched by age （＋5）and sex were recruited in the study. The genotypes of the hMLH1-93G〉A polymorphism were detected by TaqMan MGB probe method. We further assessed its association with risk of gastric cancer and interaction with tumor clinic pathological characteristics. Results：There was no significant association of the frequencies of GA or AA among the case and control groups, for case group ： GA 262 （47.3%）, AA 187 （33.8 % ） ; for control group ： GA 269 （46.2%）, AA 190 （32.7%） ; P= 0.636 and 0.398,respectively. The variant genotypes（GA＋AA） did not significantly increase the risk of gastric cancer,compared with the GG genotype[adjusted odds ratio（OR）=l.ll,95% confidence interval（CI）=0.82-1.51 ,P=0.487]. No significant association was observed between the variant genotypes of the hMLH1-93G〉A polymorphism and the clinic pathological characteristics in gastric cancer. Conclusion ：There was no significant association between the hMLH1-93G〉A polymorphism and gastric cancer susceptibility.