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缺血性心脏病的遗传学:从当前认知到临床意义

The Genetics of Ischemic Heart Disease: From Current Knowledge to Clinical Implications.

作者信息

Elosua Roberto, Sayols-Baixeras Sergi

机构信息

Grupo de Epidemiología y Genética Cardiovascular, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain.

Grupo de Epidemiología y Genética Cardiovascular, Instituto Hospital del Mar de Investigaciones Médicas (IMIM), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain; Departamento de Ciencias de la Salud y de la Vida, Universidad Pompeu Fabra, Barcelona, Spain.

出版信息

Rev Esp Cardiol (Engl Ed). 2017 Sep;70(9):754-762. doi: 10.1016/j.rec.2017.02.046. Epub 2017 Jun 13.

Abstract

Ischemic heart disease continues to cause high morbidity and mortality. Its prevalence is expected to increase due to population aging, and its prevention is a major goal of health policies. The risk of developing ischemic heart disease is related to a complex interplay between genetic, environmental, and lifestyle factors. In the last decade, considerable progress has been made in knowledge of the genetic architecture of this disease. This narrative review provides an overview of current knowledge of the genetics of ischemic heart disease and of its translation to clinical practice: identification of new therapeutic targets, assessment of the causal relationship between biomarkers and disease, improved risk prediction, and identification of responders and nonresponders to specific drugs (pharmacogenomics).

摘要

缺血性心脏病仍然导致高发病率和高死亡率。由于人口老龄化,其患病率预计将会上升,而预防缺血性心脏病是卫生政策的一个主要目标。患缺血性心脏病的风险与遗传、环境和生活方式因素之间复杂的相互作用有关。在过去十年中,人们对这种疾病的遗传结构的认识取得了相当大的进展。这篇叙述性综述概述了缺血性心脏病遗传学的当前知识及其在临床实践中的应用:确定新的治疗靶点、评估生物标志物与疾病之间的因果关系、改进风险预测以及识别特定药物的反应者和无反应者(药物基因组学)。

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