Stroke Genetics Turning Discoveries into Clinical Applications

被引:10
作者
Dichgans, Martin [1 ,2 ,3 ]
Beaufort, Nathalie [1 ]
Debette, Stephanie [4 ,5 ]
Anderson, Christopher D. [6 ,7 ,8 ]
机构
[1] Ludwig Maximilians Univ Munchen, Univ Hosp, Inst Stroke & Dementia Res ISD, Munich, Germany
[2] Munich Cluster Syst Neurol, Munich, Germany
[3] German Ctr Neurodegenerat Dis DZNE, Munich, Germany
[4] Univ Bordeaux, INSERM, Bordeaux Populat Hlth Ctr, Team VINTAGE,UMR1219, Bordeaux, France
[5] Bordeaux Univ Hosp, Inst Neurodegenerat Dis, Dept Neurol, Bordeaux, France
[6] Brigham & Womens Hosp, Dept Neurol, 75 Francis St, Boston, MA 02115 USA
[7] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
[8] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA
基金
欧洲研究理事会;
关键词
blood pressure; cardiovascular disease; coronary artery disease; genetics; lipoprotein; POLYGENIC RISK SCORES; MENDELIAN RANDOMIZATION; DRUG TARGETS; DISEASE; PREDICTION; PCSK9; MUTATIONS; ANGPTL3; NEUROPROTECTION; GENOTYPE;
D O I
10.1161/STROKEAHA.121.032616
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:2974 / 2982
页数:9
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