肿瘤坏死因子-α、人类β-防御素-1基因多态性与慢性阻塞性肺病相关性的研究

The Relationship between Genetic Polymorphism of Tumor Necrosis Factor-α,Human β-defensin-1 and the Development of Chronic Obstructive Pulmonary Disease

目的:探讨肿瘤坏死因子α(TNF-α)、人类β-防御素-1(hBD-1)基因多态性与慢性阻塞性肺病(chronic obstructive pul-monary disease,COPD)之间的关系及两基因之间的交互作用。方法:采用病例对照研究和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测COPD患者TNF-α、hBD-1基因型频率分布。结果:COPD组和健康对照组TNF-α-308突变型基因频率在两组对象中的频率分别为16.41%和8.04%,两组比较有统计学差异(P=0.006);hBD-1exon-2突变型基因频率在两组中的频率分别为15.23%和6.70%,两者差异有统计学意义(P=0.003);有TNF-α-308SNP而无hBD-1exon-2SNP时的相对危险度为1.786,无TNF-α-308SNP而有hBD-1exon-2SNP时的相对危险度值为7.082,TNF-α-308SNP、hBD-1ex-on-2SNP均存在时的相对危险度为7.836。结论:TNF-α、hBD-1基因多态性与COPD发生相关,TNF-α-308SNP、hBD-1ex-on-2SNP在COPD的发病过程中无交互作用。

Objective：To investigate the relationship between the gene polymorphism of tumor necrosis factor-α,human β-defensin-1 and the development of chronic obstructive pulmonary disease as well as to research the interactive effects between two genes.Methods：We use a case-control study to compare the frequent distribution of tumor necrosis factor-α,human β-defensin-1 genetypes with a polymerase chain reaction-fragment polymorphism（PCR-RFLP） method and to analyze the relationship between two genes.Results：The heterogenesis gene frequency of tumor necrosis factor-α in COPD group and control group were 16.41% and 8.04%,which difference was significant（P=0.006）;The heterogenesis gene frequency of human β-defensin-1 was 15.23% in COPD group and 6.70% in control group with significant difference（P=0.003）;Except human β-defensin-1 SNP,the relative risk of tumor necrosis factor-α SNP was 1.786.Except tumor necrosis factor-α SNP,the relative risk of human β-defensin-1 SNP was 7.082.The relative risk of tumor necrosis factor-αSNP and human β-defensin-1 SNP was 7.836.Conclusion：Polymorphism of tumor necrosis factor-α、human β-defensin-1 have relationship with the development of COPD,there is no interaction between tumor necrosis factor-α SNP and human β-defensin-1 SNP.