Miner Grace H, Faries Peter L, Costa Kevin D, Hanss Basil G, Marin Michael L
a Icahn school of Medicine at Mount Sinai, New York, USA.
Expert Rev Cardiovasc Ther. 2015 Oct;13(10):1079-90. doi: 10.1586/14779072.2015.1082906. Epub 2015 Sep 7.
Abdominal aortic aneurysm (AAA) disease is multifactorial with both environmental and genetic risk factors. The current research in AAA revolves around genetic profiles and expression studies in both human and animal models. Variants in genes involved in extracellular matrix degradation, inflammation, the renin-angiotensin system, cell growth and proliferation and lipid metabolism have been associated with AAA using a variety of study designs. However, the results have been inconsistent and without a standard animal model for validation. Thus, despite the growing body of knowledge, the specific variants responsible for AAA development, progression and rupture have yet to be determined. This review explores some of the more significant genetic studies to provide an overview of past studies that have influenced the current understanding of AAA etiology. Expanding our understanding of disease pathogenesis will inform research into novel diagnostics and therapeutics and ultimately to improve outcomes for patients with AAA.
腹主动脉瘤（AAA）疾病是多因素的，存在环境和遗传风险因素。目前关于AAA的研究围绕人类和动物模型中的基因谱和表达研究展开。使用多种研究设计，参与细胞外基质降解、炎症、肾素 - 血管紧张素系统、细胞生长和增殖以及脂质代谢的基因变体已与AAA相关联。然而，结果并不一致，且缺乏用于验证的标准动物模型。因此，尽管知识不断积累，但导致AAA发生、发展和破裂的具体变体尚未确定。本综述探讨了一些更重要的基因研究，以概述过去影响当前对AAA病因理解的研究。扩大我们对疾病发病机制的理解将为新型诊断和治疗方法的研究提供信息，并最终改善AAA患者的治疗效果。
