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

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。

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 controis, 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.