GENETICS OF STROKE: FROM BIOLOGICAL DISCOVERIES TO CLINICAL TRANSLATION
Λέξεις-κλειδιά:
genetics, genomics, stroke, cerebrovascular disease, polygenic risk prediction, Mendelian randomizationΠερίληψη
Stroke genetics have been transformed from a field exploring causes of rare hereditary forms of cerebrovascular
disease to an international dynamic and expanding arena offering key insights into stroke biology
and exciting opportunities for clinical applications. Genome-wide association studies, which triggered this
transformation, have already identified more than 40 genomic risk loci associated with stroke, which offer
important windows into stroke pathogenesis and starting points for experimental explorations of pharmacological
strategies. Furthermore, genome-wide explorations have enabled the development of polygenic
risk scores, which represent a promising potential application for risk prediction in clinical populations. Utilization
of genetic data further allows exploration of causal relationships between exposures and outcomes
and the discovery of novel drug targets for stroke with the use of Mendelian randomization. In this review,
I provide a brief overview of the major developments in the field and opportunities for applications.
