Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.
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DOI：
10.12945/j.aorta.2017.17.003
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发表时间：
2017-02-01
期刊：
影响因子：
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通讯作者：
Elefteriades, John A
中科院分区：
文献类型：
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作者：
Brownstein, Adam J;Ziganshin, Bulat A;Elefteriades, John A
胸主动脉瘤（TAA）是一种致命的疾病，具有逐渐扩大直至发生夹层或破裂的自然史。自从大约 20 年前发现上行 TAA 具有高度家族性以来，我们对胸主动脉瘤和夹层 (TAAD) 遗传学的了解呈指数级增长。至少 29 个基因已被证明与 TAAD 的发生有关，其中大多数编码参与细胞外基质、平滑肌细胞收缩或代谢或转化生长因子-β 信号通路的蛋白质。近四分之一的 TAAD 患者其中一个基因发生突变。在这篇综述中，我们总结了 TAAD 相关基因、脉管系统的相关临床特征以及对 TAAD 手术治疗的影响。随着下一代测序的广泛使用和新型功能测定的开发，TAAD 遗传学的未来是光明的，因为新型 TAAD 基因和基因内的变异将继续被识别。
Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the development of TAAD, the majority of which encode proteins involved in the extracellular matrix, smooth muscle cell contraction or metabolism, or the transforming growth factor-beta signaling pathway. Almost one-quarter of TAAD patients have a mutation in one of these genes. In this review, we provide a summary of TAAD-associated genes, associated clinical features of the vasculature, and implications for surgical treatment of TAAD. With the widespread use of next-generation sequencing and development of novel functional assays, the future of the genetics of TAAD is bright, as both novel TAAD genes and variants within the genes will continue to be identified.