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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。
OBJECTIVE: To investigate the association between the nucleotide polymorphism of the mMLH1 promoter -93G>A and the risk of gastric cancer in Jiangsu Province, China. METHODS: 554 patients with gastric cancer and 582 patients with age (±5 years) and sex-matched non-gastric cancer patients (control group) were studied. TaqMan MGB (minor grove binder) probes were used to detect hMLH1-93G>A polymorphism. Genotyping was performed to analyze the association of different genotypes with the risk of gastric cancer. Stratified analysis was used to investigate the association between different genotypes and clinicopathological features of gastric cancer. RESULTS: There was no significant correlation between the genotype frequency of genotypes of hMLH1-93G>A genotype and AA in case group and control group. Case group: GA262 (47.3%), AA187 (33.8%); Control group: GA269 Cases (46.2%), AA 190 cases (32.7%); P values were 0.636 and 0.398, respectively, and the combined mutation genotype GA+AA did not significantly increase the risk of gastric cancer compared with wild-type GG (adjusted OR=1.11, 95% CI = 0.82 to 1.51, P = 0.487). There was also no significant correlation between different genotypes and clinicopathological features of gastric cancer. Conclusion: There is no significant association between the 93M>A polymorphism of hMLH1 gene and the risk of gastric cancer.