【摘要】 目的　探讨肿瘤坏死因子 -α(TNF -α)基因启动子 -3 0 8位多态性与COPD易感性的关系。　方法　应用PCR -RFLP技术结合聚丙烯酰胺凝胶电泳及硝酸银染色 ,对 10 4例COPD患者和 44例非COPD人群TNF -α启动子 -3 0 8位多态性进行检测 ,并对其易感性进行分析。　结果　COPD组与对照组TNF -α基因纯合 1/1基因型频率分别为 0 .692 3、0 .840 1,二者有显著性差异 (P <0 .0 5 ) ,COPD组 1/2基因杂合基因型频率 ( 0 .2 5 96)显著高于对照组 ( 0 .13 64 ) (P <0 .0 5 )。COPD组TNF -α2等位基因频率 ( 0 .1779)显著高于对照组 ( 0 .0 5 5 8) (P <0 .0 5 ) ,RR =3 .5 9( 95 %CI1.3 6～ 9.47,P <0 .0 1)。　结论　TNF -α2等位基因可能与COPD的易感性相关 ,因此TNF -α2等位基因频率在临床上可作为遗传性标记进行检测 ,用于早期发现对COPD易感的高风险吸烟人群 ,对于预防COPD的发展具有重要意义。更多还原

【Abstract】 Objective To study the relationship between tumor necrosis factor α gene (TNF-α) promoter polymorphism and susceptibility to development of chronic obstructive pulmonary disease(COPD). Methods Polymerase chain reaction(PCR) together with polyacrylamide gel electrophoresis and silver stain was used to detect the polymorphism of TNF-α gene in 104 cases of patients with COPD (COPD group)and 44 cases of subjects without COPD (control group) and their susceptibility to development of COPD was analyzed. Results The frequencies of TNF-α 1/1 homozygous genotype in COPD group and in control one were 0.6923 and 0.8401,respectively. A statistic difference was found in their frequencies(P<0.05). The frequency (0.2596) of TNF-α 1/2 heterozygous genotype in COPD group was significantly higher than that of the control one (P<0.05). Statistical analysis showed that COPD group had a significantly higher TNF-α 2 allele frequency (0.1779) than that of the control one (0.0558) (P<0.05), RR=3.59 (95%CI 1.36～9.47, P<0.01). Conclusions The presence of the TNF-α 2 allele may be associated with the susceptibility to COPD, so it may be considered a genetic marker to be used to early identification of individuals at high risk of COPD caused by smoking habits, which may play an important role for preventing the development of COPD in clinical practice.更多还原