Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5.
Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5.
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DOI：
10.1016/j.jacc.2021.04.001
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发表时间：
2021-05-25
影响因子：
24
通讯作者：
Kovacic JC
中科院分区：
文献类型：
--
作者：
Miller CL;Kontorovich AR;Hao K;Ma L;Iyegbe C;Björkegren JLM;Kovacic JC
在由 5 部分组成的焦点研讨会系列的第二部分中，我们重点关注血管疾病背景下的精准医疗。全世界最常见的血管疾病是动脉粥样硬化，它是冠状动脉疾病、外周血管疾病以及大部分中风和其他疾病的主要原因。动脉粥样硬化是一种复杂的遗传疾病，可能涉及数百至数千个单核苷酸多态性，每种单核苷酸多态性对引起疾病的影响相对较小。相反，虽然不太常见，但有许多血管疾病通常只涉及单一基因变化，但这些变化往往会产生足以导致疾病的深远影响。这些被称为“孟德尔血管疾病”，其中包括马凡综合征和洛伊斯-迪茨综合征。鉴于动脉粥样硬化与孟德尔血管疾病的遗传基础截然不同，本文分为两部分来介绍针对这些疾病类型最有前途的精准医疗方法。
In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, peripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve only a single genetic change, but these changes can often have a profound effect that is sufficient to cause disease. These are termed “Mendelian vascular diseases,” which include Marfan and Loeys-Dietz syndromes. Given the very different genetic basis of atherosclerosis versus Mendelian vascular diseases, this article was divided into 2 parts to cover the most promising precision medicine approaches for these disease types.
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DOI：
10.1002/ajmg.c.31553
发表时间：
2017-03-01
影响因子：
3.1
作者：
Byers, Peter H.;Belmont, John;Wheeldon, Nigel
通讯作者：
Wheeldon, Nigel
影响因子：
16.6
作者：
Fahed, Akl C.;Wang, Minxian;Khera, Amit V.
通讯作者：
Khera, Amit V.
DOI：
10.1375/twin.6.5.432
发表时间：
2003-10-01
期刊：
TWIN RESEARCH
影响因子：
--
作者：
Evans, A;van Baal, GCM;Boomsma, DI
通讯作者：
Boomsma, DI
影响因子：
3.9
作者：
Comeglio, Paolo;Johnson, Philip;Child, Anne
通讯作者：
Child, Anne
影响因子：
9.8
作者：
Faivre, L.;Collod-Beroud, G.;Boileau, C.
通讯作者：
Boileau, C.