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Genetics of the extracellular matrix in aortic aneurysmal diseases.


ABSTRACT: 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.

SUBMITTER: Lin CJ 

PROVIDER: S-EPMC6146054 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Genetics of the extracellular matrix in aortic aneurysmal diseases.

Lin Chien-Jung CJ   Lin Chieh-Yu CY   Stitziel Nathan O NO  

Matrix biology : journal of the International Society for Matrix Biology 20180412


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  ...[more]

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