Stroke Genetics: Turning Discoveries into Clinical Applications

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


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.

Keywords: blood pressure; cardiovascular disease; coronary artery disease; genetics; lipoprotein.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mendelian Randomization Analysis / methods
  • Pharmacogenetics / methods
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors
  • Stroke / epidemiology
  • Stroke / genetics*