Stroke genetics: discovery, biology, and clinical applications.

Stroke genetics: discovery, biology, and clinical applications.

Publication date: Apr 08, 2019

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.

Dichgans, M., Pulit, S.L., and Rosand, J. Stroke genetics: discovery, biology, and clinical applications. 04409. 2019 Lancet Neurol.

Concepts Keywords
Artery Polygenic score
Atherosclerosis Atherosclerosis
Causal Relationships Health
Clinical Trials Stroke
Disability Medicine
Genetic Medical specialties
Genetic Loci RTT
Genetics Stroke recurrence stroke
Heritable Stroke
Lancet
Omics
Polygenic
Precision Medicine
Single Gene Disorders
Stroke

Semantics

Type Source Name
disease MESH recurrence
drug DRUGBANK Tropicamide
disease MESH risk factors
gene UNIPROT EAF2
drug DRUGBANK Sulodexide
disease DOID atherosclerosis
disease MESH atherosclerosis
gene UNIPROT LARGE1
disease MESH gene discovery
disease MESH death
disease DOID Stroke
disease MESH Stroke

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