Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Matrix Biol. 2018 Oct;71-72:128-143. doi: 10.1016/j.matbio.2018.04.005. Epub 2018 Apr 12.
Aortic aneurysms are morbid conditions that can lead to rupture or dissection and are categorized as thoracic (TAA) or abdominal aortic aneurysms (AAA) depending on their location. While AAA shares overlapping risk factors with atherosclerotic cardiovascular disease, TAA exhibits strong heritability. Human genetic studies in the past two decades have successfully identified numerous genes involved in both familial and sporadic forms of aortic aneurysm. In this review we will discuss the genetic basis of aortic aneurysm, focusing on the extracellular matrix and how insights from these studies have informed our understanding of human biology and disease pathogenesis.
主动脉瘤是一种病态的疾病，可能导致破裂或夹层，并根据其位置分为胸主动脉瘤（TAA）或腹主动脉瘤（AAA）。虽然 AAA 与动脉粥样硬化性心血管疾病有重叠的危险因素，但 TAA 表现出很强的遗传性。在过去的二十年中，人类遗传研究成功地鉴定了许多涉及家族性和散发性主动脉瘤的基因。在这篇综述中，我们将讨论主动脉瘤的遗传基础，重点讨论细胞外基质，以及这些研究如何为我们对人类生物学和疾病发病机制的理解提供信息。
