Department of Cardiology, Erciyes University, Medical Faculty, Turkey.
Tohoku J Exp Med. 2009 Sep;219(1):33-7. doi: 10.1620/tjem.219.33.
Aortic dissection (AD) is a disease characterized by tear of the aortic intimal layer and separation of the arterial wall. Some risk factor such as hypertension and Marfan syndrome is well known in AD. However, the role of genetic factors in AD is largely unknown. Insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with cardiovascular diseases; patients with D allele have higher serum and tissue ACE levels. We investigated the relationship between the I/D polymorphism of the ACE gene and non-syndromic acute AD. Sixteen patients diagnosed with AD were included in the study (mean age: 60.1 +/- 6.2 years). The diagnosis was established by clinical evaluation and imaging techniques. The control group consisted of 22 age-matched patients without AD (60.9 +/- 7.3 years), who suffered from chest pain. Incidence of hypertension was similar in dissection and control groups (62% vs. 59%). The I/D polymorphism was investigated in both groups by PCR analysis. Dissection types according to the DeBakey classification were identified as type 1 (proximal + distal) in 7 patients (43%), type 2 (proximal) in 5 patients (31%), and type 3 (distal) in 4 patients (25%). The D/D and D/I polymorphisms are present in 13 and 3 AD patients, respectively. None of patients with AD have the II polymorphism. The frequencies of the D allele (DD + ID) are significantly higher in dissection group than control (100% vs. 68%, P < 0001). These results indicate that the D allele of ACE gene is a risk factor for AD.
主动脉夹层（AD）是一种以主动脉内膜撕裂和动脉壁分离为特征的疾病。高血压和马凡综合征等一些危险因素在 AD 中广为人知。然而，遗传因素在 AD 中的作用在很大程度上尚不清楚。血管紧张素转换酶（ACE）基因的插入/缺失（I/D）多态性与心血管疾病有关；D 等位基因患者的血清和组织 ACE 水平更高。我们研究了 ACE 基因 I/D 多态性与非综合征性急性 AD 的关系。16 例经临床评估和影像学技术诊断为 AD 的患者纳入研究（平均年龄：60.1 +/- 6.2 岁）。对照组由 22 名年龄匹配的无 AD 胸痛患者（60.9 +/- 7.3 岁）组成。夹层组和对照组的高血压发生率相似（62% vs. 59%）。通过 PCR 分析研究了两组的 I/D 多态性。根据 DeBakey 分类，夹层类型为 1 型（近端+远端）7 例（43%），2 型（近端）5 例（31%），3 型（远端）4 例（25%）。AD 患者中存在 D/D 和 D/I 多态性分别为 13 和 3 例。AD 患者均无 II 多态性。D 等位基因（DD + ID）在夹层组中的频率明显高于对照组（100% vs. 68%，P < 0001）。这些结果表明 ACE 基因的 D 等位基因是 AD 的危险因素。
