TIMP-2基因单核苷酸多态性与慢性阻塞性肺疾病易感性及其肺功能的相关性  

Correlationship between the TIMP-2 gene single nucleotide polymorphisms and susceptibility and lung function of COPD

作　　者：刘建英[1] 邱丹[1] 刘振峰[1] 

机构地区：[1]遵义医学院第三附属医院,贵州遵义563003

出　　处：《山东医药》2009年第3期4-6,共3页Shandong Medical Journal

基　　金：遵义市科技局资助项目(遵市科合字200613号)

摘　　要：目的探讨TIMP-2基因单核苷酸多态性与慢性阻塞性肺疾病(COPD)关系。方法从106例COPD患者(COPD组)血液中抽提有核细胞DNA,行TIMP-2+853(G-A)基因单核苷酸多态性研究,同时与吸烟指数(每天吸烟支数×吸烟年数)、肺功能行相关性分析。另选择54例健康人做对照研究。结果TIMP-2第3外显子的突变位点在+853,该位点存在G、A两种等位基因型。Hardy-Weinbery平衡检验结果示TIMP-2基因分布可反映整体人群基因的分布情况。相关分析示吸烟指数>400与COPD的患者发病呈正相关,且吸烟量与FEV1的下降速率之间存在剂量—效应关系,即吸烟量越大,FEV1下降越快(P<0.05)。结论COPD的发病与TIMP-2基因+853位点突变有关,+853位点突变可能影响TIMP-2的表达及活性。Objective To investigated the relation between TIMP-2 gene single nucleotide polymorphisms and chronic obstructive pulmonary diseases. Methods TIMP-2 ＋ 853 （GA） gene single nucleotide polymorphisms in 108 cases with COPD was detected, and the correlationship of which and smoking index （ number of daily smokers support smoking x number of years）, lung function was analyzed. 54 eases of healthy was chosen as control. Results Mutation site of TIMP-2 exon 3 was at the ＋ 853, which include two alleles G, A. Balance test of Hardy-Weinbery showed the distribution of TIMP- 2 gene could reflect the gene distribution of population as a whole. There was postive eorrelationship between the smokingindex 〉 400 and incidence, and the amount of smoking influenced the FEV1 in dose-depended manner（P 〈0.05）. Conclusion Mutation of ＋ 853 site is related to the incidence of COPD, the possible mechanism may affect the expression and activity of TIMP-2.

关 键 词：肺疾病 慢性阻塞性 肺功能 吸烟 

分 类 号：R563[医药卫生—呼吸系统]