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广西壮族人群RTN4基因多态性及其单倍型与鼻咽癌易感性的关系

Association of RTN4 Gene Polymorphism and Haplotype with Susceptibility of Nasopharyngeal Carcinoma in Guangxi Zhuang Population

  • 摘要:
    目的 研究广西壮族人群RTN4基因多态性及其单倍型与鼻咽癌易感性之间的关系。
    方法 运用DNA测序法和单碱基延伸PCR技术,检测广西壮族人群200例确诊为鼻咽癌患者(鼻咽癌组)和200例健康查体者(对照组)的RTN4基因rs2588510和rs1348528位点基因型,并分析RTN4基因的等位基因和单倍型频率。
    结果 RTN4基因多态性rs2588510和rs1348528位点在对照组和鼻咽癌组中的基因型和等位基因频率分布差异均无统计学意义。而两个位点在对照组和鼻咽癌组中单倍型CG频率分别为27.5%和34.8%,单倍型TA频率分别为0.7%和3.0%,鼻咽癌组单倍型CG和TA频率的分布差异显著高于对照组(P=0.007, OR=2.05, 95%CI: 1.21~3.46; P=0.001, OR=6.48, 95%CI: 1.69~24.9)。
    结论 RTN4基因多态性rs2588510和rs1348528位点的单倍型CG和TA可增加广西壮族人群个体鼻咽癌易感性。

     

    Abstract:
    Objective To evaluate the relationship of RTN4 gene polymorphism and haplotypes with the risk of nasopharyngeal carcinoma (NPC) in Guangxi Zhuang population.
    Methods DNA sequencing and singlebase extension PCR were applied to investigate the RTN4 gene polymorphism rs2588510 and rs1348528 sites of genotypes, alleles and haplotypes frequencies in 200 cases of nasopharyngeal carcinoma and 200 healthy persons (control group) from Guangxi Zhuang Autonomous Region.
    Results There was no difference between the case and control groups of genotypes and allele frequencies in the RTN4 gene rs2588510 and rs1348528 sites. The frequencies of haplotypes CG and TA were respectively 27.5%, 34.8% and 0.7%, 3.0% in control and case groups, the distribution of the latter haplotype CG and TA frequencies were significantly higher than the former (P=0.007, OR=2.05, 95%CI: 1.21-3.46; P=0.001, OR=6.48, 95%CI: 1.69-24.9).
    Conclusion The RTN4 gene polymorphisms rs2588510 and rs1348528 sites of haplotype CG and TA could increase the susceptibility of nasopharyngeal carcinoma (NPC) in Guangxi Zhuang population.

     

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