Sandford A J, Spinelli J J, Weir T D, Paré P D
Respiratory Health Network of Centres of Excellence, St Paul's Hospital, Vancouver, BC, Canada.
J Med Genet. 1997 Oct;34(10):874-5. doi: 10.1136/jmg.34.10.874.
A mutation in the 3' flanking region of the alpha-1-antitrypsin gene has been reported to be associated with chronic obstructive pulmonary disease (COPD). We have investigated the prevalence of this mutation in a group of 185 patients with airway obstruction and in 69 non-obstructed controls. The subjects were selected on the basis of their development of lung cancer and therefore had similar exposure to cigarette smoke, the major risk factor for COPD. In the majority of subjects, the level of airway inflammation and loss of elastic recoil was known, and therefore we were able to test whether the mutation was associated with one of these pathological mechanisms. The prevalence of heterozygotes for the mutation was 10% in both the obstructed group and controls. The mutation was not associated with increased airway inflammation or loss of elastic recoil. This result indicates that the 3' mutation is not a significant risk factor for COPD in this population, and suggests heterogeneity in the pathogenesis of the disease.
据报道，α-1抗胰蛋白酶基因3'侧翼区域的突变与慢性阻塞性肺疾病（COPD）有关。我们调查了185例气道阻塞患者和69例非阻塞对照人群中该突变的发生率。这些受试者是根据其患肺癌情况入选的，因此他们接触香烟烟雾（COPD的主要危险因素）的程度相似。在大多数受试者中，气道炎症水平和弹性回缩丧失情况是已知的，因此我们能够测试该突变是否与这些病理机制之一相关。突变杂合子在阻塞组和对照组中的发生率均为10%。该突变与气道炎症增加或弹性回缩丧失无关。这一结果表明，在该人群中，3'突变不是COPD的重要危险因素，并提示该疾病发病机制存在异质性。
