Eryüksel Emel, Ceyhan Berrin Bağci, Bircan Rifat, Avşar Melike, Cirakoğlu Beyazit
Pulmonary and Critical Care Medicine, Marmara University Hospital, Istanbul, Turkey.
J Asthma. 2009 May;46(4):335-8. doi: 10.1080/02770900802660972.
Asthma is a chronic inflammatory disease of the airways. Several candidate genes have been identified with a potential role in the pathogenesis of asthma, including the angiotensin converting enzyme (ACE) gene. We aimed to investigate the frequency of an ACE gene polymorphism in Turkish asthmatic patients and to determine its impact on clinical parameters and disease severity. Ninety-seven asthmatic patients (M/F 25/72, mean age 39 +/- 13 years) and 96 healthy subjects (M/F 26/70, mean age 38 +/- 12 years) were included. At baseline, all participants completed a questionnaire on demographics, symptoms, triggering factors, severity of asthma, and the presence of atopism. Blood samples were obtained from all patients and genomic DNA was isolated. The frequency of the ACE genotypes (I = insertion and D = deletion) among asthmatics and controls were compared: asthmatics showed a 40.2% prevalence of the DD genotype (n = 39), ID was 45.4% (n = 44), and II was 14.4% (n = 14.4). In the control subjects, the frequency of DD was 18.8% (n = 18), ID was 50% (n = 48) and II was 31.3% (n = 30). The DD ACE genotype was significantly more frequent in asthmatics compared with controls (p < 0.001). Asthmatics with the ID ACE genotype showed a higher frequency of drug allergies, although this was not statistically significant (p = 0.08). Asthmatics with the DD genotype appeared to have a higher incidence of asthmatic episode exacerbations due to viral infections, but again this was not statistically significant (p = 0.08). Patients with mild or moderate-severe asthma had similar frequencies of these mutations. We found a higher frequency of the ACE DD gene mutation in Turkish asthmatic patients compared with non-asthmatics, suggesting that this ACE gene polymorphism may be a risk factor for asthma but does not increase the severity of the disease.
哮喘是一种气道慢性炎症性疾病。已经确定了几个在哮喘发病机制中可能起作用的候选基因，包括血管紧张素转换酶（ACE）基因。我们旨在调查土耳其哮喘患者中ACE基因多态性的频率，并确定其对临床参数和疾病严重程度的影响。纳入了97例哮喘患者（男/女25/72，平均年龄39±13岁）和96例健康受试者（男/女26/70，平均年龄38±12岁）。在基线时，所有参与者都完成了一份关于人口统计学、症状、触发因素、哮喘严重程度和特应性情况的问卷。从所有患者采集血样并分离基因组DNA。比较了哮喘患者和对照组中ACE基因型（I = 插入，D = 缺失）的频率：哮喘患者中DD基因型的患病率为40.2%（n = 39），ID为45.4%（n = 44），II为14.4%（n = 14）。在对照受试者中，DD的频率为18.8%（n = 18），ID为50%（n = 48），II为31.3%（n = 30）。与对照组相比，哮喘患者中DD ACE基因型的频率显著更高（p < 0.001）。具有ID ACE基因型的哮喘患者药物过敏的频率较高，尽管这在统计学上不显著（p = 0.08）。具有DD基因型的哮喘患者因病毒感染导致哮喘发作加重的发生率似乎较高，但同样在统计学上不显著（p = 0.08）。轻度或中度 - 重度哮喘患者这些突变的频率相似。我们发现与非哮喘患者相比，土耳其哮喘患者中ACE DD基因突变的频率更高，这表明这种ACE基因多态性可能是哮喘的一个危险因素，但不会增加疾病的严重程度。
