Stroke Genetics: Turning Discoveries into Clinical Applications.
Stroke Genetics: Turning Discoveries into Clinical Applications.
复制标题
DOI：
10.1161/strokeaha.121.032616
复制
发表时间：
2021-08
期刊：
影响因子：
8.3
通讯作者：
Anderson CD
中科院分区：
文献类型：
--
作者：
Dichgans M;Beaufort N;Debette S;Anderson CD
中风的医学和群体遗传学领域正在快速发展，并为发现和临床应用带来了意想不到的机会。全基因组关联研究已经强调了与病因学定义的卒中亚型和整个卒中相关的特定途径的作用。它们进一步为在实验系统中探索新的途径和药理学策略提供了起点。孟德尔随机化研究继续为暴露和结果之间的因果关系提供见解，并已成为预测药物疗效和副作用的有用工具。最近发现的其他应用包括基于多基因风险评分和药物基因组学的风险预测。目前成为焦点的主题之一是中风结局的遗传学。虽然仍处于起步阶段，但该领域有望促进神经保护剂的发展。我们简要概述了这些领域的最新进展。
The field of medical and population genetics in stroke is moving at a rapid pace and has led to unanticipated opportunities for discovery and clinical applications. Genome-wide association studies have highlighted the role of specific pathways relevant to etiologically defined subtypes of stroke and to stroke as a whole. They have further offered starting points for the exploration of novel pathways and pharmacological strategies in experimental systems. Mendelian randomization studies continue to provide insights in the causal relationships between exposures and outcomes and have become a useful tool for predicting the efficacy and side effects of drugs. Additional applications that have emerged from recent discoveries include risk prediction based on polygenic risk scores and pharmacogenomics. Among the topics currently moving into focus is the genetics of stroke outcome. While still at its infancy, this field is expected to boost the development of neuroprotective agents. We provide a brief overview on recent progress in these areas.