强直性脊柱炎患者肿瘤坏死因子α启动子308位点基因多态性分析

Gene polymorphism of the promoter region 308 site of the tumor necrosis factor α in ankylosing spondylitis

  • 摘要: 目的:探讨肿瘤坏死因子(TNF)α启动子308位点基因多态性与强直性脊柱炎(AS)的相关性。方法:用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法对112例AS患者和96例健康对照人群,以及98例HLA B27阳性AS患者和14例阴性AS患者的TNF-α启动子308位点基因多态性进行分析。结果:AS患者GG、GA和AA三种基因型频率分别为60.71%、36.61%和2.68%,G和A的等位基因频率分别为0.790和0.210,对照组三种基因型频率分别为81.25%、17.71%和1.04%,等位基因频率分别为0.901和0.099,两组基因型和等位基因频率分布有显著性差异(P<0.01),AS患者的A等位基因频率明显高于对照组。HLA-B27阳性AS患者和阴性AS患者的基因型频率亦有显著性差异(P<0.01)。结论:TNF-α启动子308位点基因多态性与AS相关,A等位基因可能增加AS的易感性。

     

    Abstract: Objective:To investigate the relationship between tumor necrosis factor α(TNF-α) gene polymorphism of the promoter region 308 site and ankylosing spondylitis(AS).Methods:Genomic DNA from 112 AS patients and 96 healthy controls,98 HLA-B27 positive AS patients and 14 HLA-B27 negative AS patients were genotyped for TNF-α gene 308 site polymorphism by polymerase chain reaction——restriction fragment length polymorphisms(PCR-RFLP).Results:Three genotypes(GG、GA and AA) frequencies in AS patients were 60.71%,36.61% and 2.68%,and in controls were 81.25%,17.71% and 1.04%,respectively.The allele frequencies(G and A) in AS patients were 0.790 and 0.210,and in controls were 0.901 and 0.099,respectively.Allele A frequency in AS patients was significantly increased compared with the controls.Significant difference was also found in the distribution of genotypes between HLA-B27 positive AS patients and HLA-B27 negative AS patients.Conclusion:The gene polymorphism of the promoter region 308 sit of TNF-α is associated with AS,and allele A may play a role in AS susceptibility.

     

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