强直性脊柱炎患者肿瘤坏死因子α-857和-863位点基因多态性分析

Gene Polymorphism of Tumor Necrosis Factor α-857 and-863 Sites in Ankylosing Spondylitis

目的探讨肿瘤坏死因子(TNF)α-857和-863位点基因多态性与强直性脊柱炎(AS)的相关性。方法用序列特异引物PCR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-857(C/T)和-863(C/A)位点基因多态性进行分析。结果AS患者组TNF-α-857位点基因型和等位基因频率分布与健康对照组有显著统计学差异(P<0.01),AS患者的T等位基因频率明显高于对照组,而AS患者TNF-α-863位点基因型和等位基因频率分布与健康对照组无统计学差异(P>0.05)。HLA-B27阳性AS患者和阴性AS患者TNF-α-857位点基因型频率亦有显著统计学差异(P<0.01)。结论TNF-α-857位点基因多态性与AS相关,T等位基因可能增加AS的易感性。

Objective To investigate the relationship between the gene polymorphism of tumor necrosis factor （TNF）-α-857 and- 863 sites 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-857 and-863 site gene polymorphism by sequence-specific primer polymerase chain reaction （SSP-PCR）. Results Significant difference was found in the distribution of genotypes and the allele frequency of TNF-α-857 site between the AS patients and the healthy controls. The allele T frequency in the AS patients was significantly increased compared with that of the controls. No association was found in the distribution of genotypes and the allele frequency of TNF-α-863 site between the AS patients and the healthy controls. Significant difference was also found in the distribution of genotypes of TNF-α-857 site between the HLA-B27 positive AS patients and the HLA-B27 negative AS patients. Conclusion Conclusion The gene polymorphism of the TNF-α-857 site is associated with AS, and allele T may play a role in AS susceptibility.