Dnmt1基因单核苷酸多态性与胃癌的关系  

Association of Dnmt1 single-nucleotide polymorphisms and risk of gastric cancer

作　　者：高燕[1] 崔艳欣[1] 姜相君[1] 

机构地区：[1]青岛市市立医院消化内二科,青岛266000

出　　处：《中国癌症防治杂志》2015年第6期394-397,共4页CHINESE JOURNAL OF ONCOLOGY PREVENTION AND TREATMENT

基　　金：青岛市公共领域科技支撑计划项目(2012-1-3-1-(10)-nsh)

摘　　要：目的探讨Dnmt1基因rs16999593、rs2228611位点单核苷酸多态性与胃癌发病易感性的关系。方法采用病例-对照的研究方法 ,采集青岛地区310例胃癌患者（胃癌组）与420名健康体检者（对照组）外周血液样本,提取基因组DNA,PCR扩增目的基因片段,用DNA直接测序法对Dnmt1基因rs16999593、rs2228611位点进行基因分型,分析其与胃癌发病易感性的关系。结果 Dnmt1基因rs16999593位点TT型、CT型和CC型在胃癌组中的频率分别为58.1%、36.1%和5.8%,在对照组中分别为66.9%、27.9%和5.2%。与野生型TT型相比,携带CT基因型者胃癌发病的风险性增加（OR=1.494,95%CI=1.086~2.057,P〈0.05）,CC基因型虽可增加胃癌发病风险,但差异无统计学意义（OR=1.277,95%CI=0.677~2.448,P〉0.05）。rs2228611位点的各基因型在胃癌组和对照组间分布频率的差异无统计学意义（P〉0.05）。结论 Dnmt1基因rs16999593位点CT基因型可能增加青岛地区汉族人群胃癌发病的易感性。Objective The aim of our study was to investigate whether single-nucleotide polymorphisms at loci rs16999593 and rs2228611 in the gene encoding DNA methyhransferase 1 （Dnmtl） are associated with risk of gastric cancer. Methods A total of 310 patients with gastric cancer and 420 healthy controls,all Han Chinese, were genotyped at rs16999593 and rs2228611 using PCR-based DNA sequence analysis and direct DNA sequencing. Results TT,CT and CC genotypes were identified at the rs16999593 locus： respective frequencies among patients were 58.1%, 36.1% and 5.8%, compared to 66.9%, 27.9% and 5.2% among controls. The CT genotype was associated with significantly higher risk than the wild-type TT genotype （OR 1.494,95%CI 1.086 to 2.057, P〈0.05）. The CC genotype was associated with marginally,but not significantly, higher risk than TT （OR 1.277,95%CI 0.677 to 2.448,P〉0.05）. The frequencies of genotypes at rs2228611 did not differ significantly between patients and controls （P〉0.05）. Conclusion Polymorphism at Dnmtl rs16999593 is associated with elevated risk of gastric cancer among Han Chinese in Qingdao.

关 键 词：胃肿瘤 DNMT1基因 单核苷酸多态性 基因型 易感性 

分 类 号：R735.2[医药卫生—肿瘤]