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中国癌症防治杂志 ›› 2015, Vol. 7 ›› Issue (6): 394-397.doi: 10.3969/j.issn.1674-5671.2015.06.02

• 基础研究 • 上一篇    下一篇

Dnmt1基因单核苷酸多态性与胃癌的关系

  

  1. 青岛市市立医院消化内二科
  • 出版日期:2015-12-25 发布日期:2016-01-11
  • 通讯作者: 姜相君。 drjxj@163.com
  • 基金资助:

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

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

  • Online:2015-12-25 Published:2016-01-11

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。

关键词: 胃肿瘤, Dnmt1基因, 单核苷酸多态性, 基因型, 易感性

Abstract:

Objective The aim of our study was to investigate whether single-nucleotide polymorphisms at loci rs16999593 and rs2228611 in the gene encoding DNA methyltransferase 1(Dnmt1) 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 Dnmt1 rs16999593 is associated with elevated risk of gastric cancer among Han Chinese in Qingdao.

Key words: Gastric neoplasm, Dnmt1 gene, Single-nucleotide polymorphisms, Genotype, Susceptibility