肿瘤坏死因子α启动子基因多态性与支气管哮喘及其严重程度的相关性研究

Investigation of the Association Between Tumour Necrosis Factor alpha Promotor Polymorphism and Asthma

目的 探讨肿瘤坏死因子α(TNFα)启动子 30 8位点基因多态性与支气管哮喘及其严重程度的相关性。方法 采用聚合酶链反应引入酶切位点技术结合聚丙烯酰胺凝胶电泳方法 ,对 4 8例哮喘患者和 2 1例健康人的TNFα启动子基因 ( 30 8G→A)位点的基因型进行检测。结果 哮喘组 (4 8例 )与正常对照组 (2 1例 )比较两种基因型 (野生型和突变型 )在分布上有差异性 (P <0 .0 5 ) ;轻中度哮喘组 (2 4例 )及中重度哮喘组 (2 4例 )与正常对照组 (2 1例 )比较两种基因型 (野生型和突变型 )在分布上无显著差异性 (P >0 .0 5 )。结论 TNFα 30 8启动子基因多态性与支气管哮喘发病有相关性 ,可能是支气管哮喘发作的危险因子 。

Objective To investigate the association of TNFα promoter -308 gene polymorphism with asthma and its severity.Methods The studied subjects were divided into three groups.The first group consisted of subjects with mild/moderate asthma(n=24).The second group consisted of subjects with moderate-severe asthma(n=24).The third group consisted of nonatopic nonasthmatic subjects(n=21).DNA was extracted from peripheral blood samples.The TNFαpromoter -308 polymorphism was detected by PCR mediated site directed mutagenesis techniques.Results Comparison of all the asthmatic subjects(n=48) with the nonasthmatic group(n=21) indicated a significant association of the TNF-αpromotor -308 polymorphism with asthma(P=0.027;OR:5.5;95% CI:1.515 to 19.969).Comparison of the mild/moderate asthma subjects(n=24)with the nonasthmatic group(n=21) ,there were no significant association of the TNFα-308 polymorphism with mild/moderate asthma(P=0.061;OR:5.5;95% CI:1.095 to 27.666).Comparison of the moderate/severe asthma subjects(n=24) with the nonasthmatic group(n=21) ,there were no significant association of the TNFαpromoter -308 polymorphism with moderate/severe asthma(P=0.061;OR:5.5;95% CI:1.095 to 27.666).Conclusion Our data suggest that TNFαpromoter -308 gene polymorphism is associated with asthma and may be a genetic risk factor for asthma. But the polymorphism -308 in the promoter of the TNF alpha gene does not to grade its severity.