西藏地区藏族人基质金属蛋白酶-9基因多态性与慢性阻塞性肺疾病易感性的研究

Association of MMP-9 polymorphisms with susceptibility to chronic obstructive pulmonary disease in Ethnic Tibetan population

目的探讨西藏地区藏族人基质金属蛋白酶-9（MMP-9）基因多态性与慢性阻塞性肺疾病（COPD）易感性的关系。方法采用病例对照研究方法，收集180例吸烟COPD患者和180名健康对照组（96名吸烟组和84名非吸烟组）。应用聚合酶链反应限制性片段长度多态性技术检测MMP-9（1562C／T）基因型频率在病例组与对照组的差别。结果MMP9（1562）的基因型CC和CT＋TT的频率在180例COPD患者中分别是66．67％、33．33%；96例健康吸烟对照组中的频率是87．5％、12．5％；健康不吸烟对照组的频率是92．9％、7．1％。C等位基因频率在COPD组、健康吸烟组和健康不吸烟组分别是83．33％、92．7％和96．43％；T等位基因的频率分别是16．67％、7．3％和3．57％。结论MMP9（1562C／T）基因型可增加西藏地区藏族人COPD易感性，且这种突变可能与吸烟相关密切。

Objective To explore whether the matrix metalloproteinases-9 （MMP 9） polymorphism was associated with the susceptibility to chronic obstructive pulmonary diseas （COPD） in Ethnic Tibetan population. Methods Case-Control study was employed and 180 COPD （current smokers） and 180 control subjects （96 smokers, and 84 non-smokers） were selected. Genotyping was determined by using PCR- RFLP both in case and controls subjects. Results The frequencies of genotype CC and CT＋TT in COPD were 66.67% and 33.33% respectively. In smoker control group were 87.5% and 12.5% respectively and in non-smoker control group were 92.9% and 7.1% respectively. The frequencies of C allele in COPD, smoker control group and non-smoker control group were 83.33 %, 92.7 % and 96.43 % respectively. The frequencies of T allele in three groups above were 16. 67%,7.3% and 3.57% respectively. Conclusions The genetic polymorphism of MMP-9 （1562 C/T） was associated with the susceptibility to COPD in Ethnic Tibetan population and appearance of this mutation is closely associated with smoking.