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Lancet Neurol. 2019 Jun;18(6):587-599. doi: 10.1016/S1474-4422(19)30043-2. Epub 2019 Apr 8.

Stroke genetics: discovery, biology, and clinical applications.

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Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität, Munich, Germany; German Center for Neurodegenerative Diseases, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:
Department of Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht, Netherlands; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Oxford University, Oxford, UK; Program in Medical Population and Genetics, Broad Institute, Cambridge, MA, USA.
Program in Medical Population and Genetics, Broad Institute, Cambridge, MA, USA; Henry and Allison McCance Center for Brain Health, and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.


Stroke, a leading cause of long-term disability and death worldwide, has a heritable component. Recent gene discovery efforts have expanded the number of known single-gene disorders associated with stroke and have linked common variants at approximately 35 genetic loci to stroke risk. These discoveries have highlighted novel mechanisms and pathways implicated in stroke related to large artery atherosclerosis, cardioembolism, and small vessel disease, and defined shared genetic influences with related vascular traits. Genetics has also successfully established causal relationships with risk factors and holds promise for prioritising targets for exploration in clinical trials. Genome-wide polygenic scores enable the identification of high-risk individuals before the emergence of vascular risk factors. Challenges ahead include a better understanding of rare variants and ancestral differences for integration of genetics into precision medicine, integration with other omics data, uncovering the genetic factors that govern stroke recurrence and stroke outcome, and the conversion of genetic discoveries to novel therapies.

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