ADAM33基因多态性与COPD易感性的研究

Association of ADAM33 gene polymorphisms with COPD in tibetan population of China

目的COPD是一种常见病和多发病，发病率逐年上升，给人民健康和社会经济造成严重负担。COPD受环境和遗传双重因素影响。我们的研究目的是探讨ADAM33基因多态性与我国西藏地区藏族人群COPD患者的相关性。方法利用引物序列特异性聚合酶链反应一限制性片段长度多态性（PCR-RFLP）的方法检测240例COPD患者和221例健康对照者ADAM33基因4个位点（T2、T1、S2和S1）的单核苷酸多态性。计算这4个位点的基因型频率和等位基因频率，用Excel和x^2检验处理数据，Haploview软件分析单体型，计算优势比（OR）和95％可信区间（CI）。结果COPD组T1G和S1G等位基因频率显著高于对照组，各自的P值、OR、95％C1分别为：P〈0．0001，OR-0．300，95％CI-0．159～0．565；P=0．006，OR=0．658，95％CI=0．489～0．886。而T2A（P〈0．0001，OR=2．17095％CI=1．521～3．095）等位基因频率对照组明显高于cOPD组。结论ADAM33基因的T2GG基因型、T1AG基因型及SIGG基因型可能是COPD的高危因素。

Objective Chronic obstructive pulmonary disease （COPD） is a common, complex disorder associated with substantial morbidity and mortality, influenced by both environmental and genetic factors. ADAM33 gene was found robe associated with asthma, declined lung function and COPD. The purpose of the study was to test whether SNPs in ADAM33 were associated with COPD in Tibetan population of China. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was carried out to genotype the 4 SNPs （T2 ,T1 ,S2 ,S1）of ADAM33 on 240 COPD patients and 221 healthy individuals. Results 3 SNPs （T2,T1 and S1） were associated with COPD significantly （defined as P 〈 0.05 ）. Conclusions The results indicating an association between ADAM33 polymorphisms and COPD in Tibetan population of China.