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目的探讨肿瘤坏死因子-α(TNF-α)的基因启动子-850位点多态性对强直性脊柱炎(AS)易感性和临床表现的影响。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对33名AS患者、13个家庭的AS患者一级亲属39名以及187名正常对照者的TNF-α基因启动子-850位点进行基因分型,并分析基因型与疾病临床表现之间的关系。结果经病例-对照研究,TT基因型在AS组中的分布显著高于正常对照组(15.2%vs2.1%,P<0.01);T等位基因携带者在AS组与正常对照组间分布存在显著差异(75.8%vs21.4%,P<0.01);家庭调查也发现在AS一级亲属中T等位基因携带者显著高于正常对照组(64.1%vs21.4%,P<0.01);TX(CT+TT)基因型与CC基因型的AS患者在病程、临床症状、B27阳性率方面无明显差异;CT分级方面,TX基因型AS患者的骶髂关节CT分级≥Ⅲ级者的比例较CC基因型AS患者高(60%vs37.5%,P>0.05);但在ESR、CRP方面,TX基因型AS患者较CC基因型AS患者明显升高(分别为80%vs37.5%;56%vs12.5%。P<0.05)。结论TNF-α基因启动子-850C→T的突变可能是AS发生的新易感基因。与AS的炎症严重程度也可能存在关联。
Objective To investigate the effect of TNF-α gene promoter -850 polymorphism on susceptibility and clinical manifestations of ankylosing spondylitis (AS). Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the TNF-α gene in 39 AS patients, 13 first-degree relatives of 13 AS patients and 187 normal controls Sub--850 loci genotypes, and analyze the relationship between genotypes and clinical manifestations of the disease. Results The case-control study showed that the distribution of TT genotype in AS group was significantly higher than that in control group (15.2% vs 2.1%, P <0.01). The distribution of T allele in AS group and normal control group (75.8% vs 21.4%, P <0.01). The family survey also found that the carriers of T allele in AS relatives were significantly higher than those in control subjects (64.1% vs 21.4%, P <0.01) ; There was no significant difference in disease course, clinical symptoms and B27 positive rate between AS patients with TX (CT + TT) genotype and CC genotype; CT grade, CT patients with TX genotype AS had sacroiliac joint CT grade ≥Ⅲ (60% vs37.5%, P> 0.05). However, in ESR and CRP patients, TX genotype AS patients were significantly higher than CC genotype AS patients (80% vs37.5 %; 56% vs 12.5% .P <0.05). Conclusion The mutation of TNF-α gene promoter -850C → T may be a new susceptibility gene of AS. There may also be an association with the severity of inflammation in AS.