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Stroke Genetics: Turning Discoveries into Clinical Applications.

Stroke. 2021 Aug;52(9):2974-2982. doi: 10.1161/STROKEAHA.121.032616. Epub 2021 Aug 17. PMID: 34399583; PMCID: PMC8384143.

Authors/Editors: Dichgans M, Beaufort N, Debette S, Anderson CD.
Publication Date: 2021


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.

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