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东亚人群心脏病和中风管理中的精准医学考量

Precision Medicine Considerations for the Management of Heart Disease and Stroke in East Asians.

作者信息

Goodnough Candida L, Gross Eric R

机构信息

Department of Anesthesiology, Perioperative and Pain Medicine, School of Medicine, Stanford University, Stanford, California, USA.

出版信息

Cardiol Plus. 2020 Jul-Sep;5(3):101-108. doi: 10.4103/cp.cp_17_20. Epub 2020 Sep 30.

Abstract

Heart disease is the leading cause of death in Asian Americans. Importantly, people of East Asian descent are more likely to carry a loss-of-function point mutation in aldehyde dehydrogenase 2 (ALDH2), ALDH22, which reduces ALDH2 enzymatic activity by at least 40% relative to wild type ALDH2. Given the role of ALDH2 in removing toxic aldehydes from the cell, ALDH2 is intimately involved in the cardioprotective mechanisms of ischemic preconditioning and the pathophysiology of ischemia reperfusion injury. The ALDH22 variant is associated with an increased incidence of coronary artery disease, myocardial infarction, and stroke. Furthermore, this variant is associated with insensitivity to nitroglycerin, which is commonly prescribed in patients with cardiovascular disease. In this review, we discuss the genetic susceptibility and pathophysiology associated with the ALDH22 variant in regards to cardiovascular disease. We also present the considerations for the management of heart disease and stroke specific to East Asians carrying the ALDH22 genetic variant.

摘要

心脏病是亚裔美国人的主要死因。重要的是,东亚血统的人更有可能携带醛脱氢酶2(ALDH2)的功能丧失点突变,即ALDH22,相对于野生型ALDH2,它会使ALDH2酶活性降低至少40%。鉴于ALDH2在清除细胞内有毒醛类中的作用,ALDH2密切参与缺血预处理的心脏保护机制以及缺血再灌注损伤的病理生理学过程。ALDH22变异与冠状动脉疾病、心肌梗死和中风的发病率增加有关。此外,这种变异与对硝酸甘油不敏感有关,硝酸甘油常用于心血管疾病患者。在这篇综述中,我们讨论了与心血管疾病相关的ALDH22变异的遗传易感性和病理生理学。我们还提出了针对携带ALDH22基因变异的东亚人心脏病和中风管理的注意事项。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbb5/8095722/546737aa1ad5/nihms-1642027-f0001.jpg

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