Fatini C, Pratesi G, Sofi F, Gensini F, Sticchi E, Lari B, Pulli R, Dorigo W, Azas L, Pratesi C, Gensini G F, Abbate R
Department of Clinical and Surgical Critical Care, Thrombosis Centre, Degenerative and Neoplastic Diseases to Develop Novel Therapies, Azienda Ospedaliero-Universitaria Careggi, University of Florence, Florence, Italy.
Eur J Vasc Endovasc Surg. 2005 Mar;29(3):227-32. doi: 10.1016/j.ejvs.2004.12.018.
To examine the role of polymorphisms in angiotensin converting enzyme (ACE, I/D) and angiotensin II receptor (AT1R, A1166C) in the development of abdominal aortic aneurysm (AAA).
We investigated 250 consecutive patients, 217 males and 33 females (median age 72, range 50-83), undergone AAA elective repair and 250 healthy controls, comparable for sex and age. ACE and AT1R polymorphisms were studied by PCR-RFLP analysis. The genotype distribution was in Hardy-Weinberg equilibrium for all polymorphisms.
The genotype distribution and allele frequency of ACE I/D, but not AT1R A1166C polymorphism were significantly different between patients and controls (ACE I/D: p=0.0002 and p<0.0001, respectively, and AT1R A1166C: p=0.6 and p=0.4, respectively). An association between the ACE DD genotype and the predisposition to AAA was found (OR DD vs. ID+II=1.9 95% CI 1.3-2.9, p<0.0001). Multivariate analysis adjusted for age, sex, traditional vascular risk factors and other atherosclerotic localizations, showed ACE DD genotype to be independently related to the disease (OR DD vs. ID+II=2.4, 95% CI 1.3-4.2 p=0.003).
Our findings document that ACE DD genotype represents a susceptibility factor for AAA.
探讨血管紧张素转换酶（ACE，I/D）和血管紧张素II受体（AT1R，A1166C）基因多态性在腹主动脉瘤（AAA）发病中的作用。
我们研究了250例连续接受AAA择期修复手术的患者，其中男性217例，女性33例（中位年龄72岁，范围50 - 83岁），以及250例年龄和性别匹配的健康对照。通过聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）研究ACE和AT1R基因多态性。所有多态性的基因型分布均符合哈迪-温伯格平衡。
患者与对照组之间，ACE I/D基因多态性的基因型分布和等位基因频率存在显著差异，但AT1R A1166C基因多态性无显著差异（ACE I/D：分别为p = 0.0002和p < 0.0001，AT1R A1166C：分别为p = 0.6和p = 0.4）。发现ACE DD基因型与AAA易感性之间存在关联（OR DD vs. ID + II = 1.9，95% CI 1.3 - 2.9，p < 0.0001）。在对年龄、性别、传统血管危险因素和其他动脉粥样硬化部位进行校正的多变量分析中，显示ACE DD基因型与疾病独立相关（OR DD vs. ID + II = 2.4，95% CI 1.3 - 4.2，p = 0.003）。
我们的研究结果表明，ACE DD基因型是AAA的一个易感因素。
