Cardiovascular Research Institute and Department of Cardiology, Shenyang Northern Hospital, 83 Wenhua Road, Shenyang, China.
Mol Biol Rep. 2013 Feb;40(2):1249-54. doi: 10.1007/s11033-012-2167-x. Epub 2012 Oct 19.
Thoracic aortic dissection (TAD) is a catastrophic cardiovascular disease and is thought to have a genetic basis. Various studies have indicated that renin-angiotensin system plays an important role in the pathogenesis of aortic disease. To determine the association of the I/D polymorphism of ACE gene with the risk of TAD in a Chinese Han population, a hospital-based case-control study was designed consisting of 161 subjects with TAD and 256 control subjects. The genotype frequency of the ACE I/D polymorphism was determined by using a polymerase chain reaction assay. The overall distribution of ACE I/D genotypes was significantly different between the two groups. Compared with the controls, the frequency of DD genotypes and the D allele of ACE gene were significantly increased in TAD patients. Multivariate logistic regression adjusting for conventional vascular risk factors confirmed the association between the ACE I/D polymorphism and the susceptibility to TAD (OR 2.14, 95 % CI 1.38-3.32, P = 0.001). Our data demonstrated that the ACE I/D polymorphism appeared to be an important risk factor in the development of TAD. However, further validation in large population-based studies is needed to confirm the finding.
胸主动脉夹层(TAD)是一种灾难性的心血管疾病,被认为具有遗传基础。多项研究表明,肾素-血管紧张素系统在主动脉疾病的发病机制中起重要作用。为了确定 ACE 基因的 I/D 多态性与中国汉族人群 TAD 风险的关联,设计了一项基于医院的病例对照研究,包括 161 例 TAD 患者和 256 例对照者。采用聚合酶链反应检测 ACE I/D 多态性的基因型频率。两组间 ACE I/D 基因型的总体分布有显著差异。与对照组相比,TAD 患者的 DD 基因型和 ACE 基因的 D 等位基因频率显著增加。调整传统血管危险因素的多变量 logistic 回归证实 ACE I/D 多态性与 TAD 的易感性相关(OR 2.14,95%CI 1.38-3.32,P=0.001)。我们的数据表明,ACE I/D 多态性似乎是 TAD 发展的一个重要危险因素。然而,需要在大型基于人群的研究中进一步验证这一发现。