Large-Scale Study Identifies New Genetic Risk Factors for Stroke - European Medical Journal

Large-Scale Study Identifies New Genetic Risk Factors for Stroke

2 Mins

NEW genetic risk factors for stroke, demonstrating shared genetic influences with a plethora of related vascular conditions, have been showcased in a large collaborative study led by researchers from Ludwig Maximilian University of Munich (LMU), Munich, Germany. The results identified a number of targets for antithrombotic therapy, providing a step towards the development of personalised treatments for this condition.

Genetic Risk Factors

In a cohort of 520,000 participants taken from 29 studies, millions of genetic variants were analysed, with 32 independent genomic regions shown to be associated with stroke, two-thirds of which are novel. The genetic risk factors were implicated in alterations in different areas of the vasculature that can cause stroke, such as large arteries, small arteries, the heart, and the venous system, with the team finding that some of these risk factors contribute to specific mechanisms and others to overall stroke susceptibility. There were also shared genetic influences between two causes of stoke often believed to have opposite mechanisms: vessel occlusion and rupture of a vessel.

Shared Genetic Influences

It was then observed that several of the genetic areas identified overlapped with genomic areas implicated in related vascular conditions, such as atrial fibrillation, coronary artery disease, and venous thrombosis, or vascular risk factors, particularly elevated blood pressure. Insights into the specific genes, molecular pathways, and cell and tissue types through which the genetic risk factors cause stroke were then explored by adding data on gene expression, protein expression, and other characteristics in multiple cell types and tissues.

Personalised Therapies

The team believe the genes discovered provide many avenues for the development of drugs for antithrombotic therapy; for example, re-opening occluded blood vessels in patients with acute stroke or preventing vascular events such as stroke.

“These genetic findings represent a first step towards developing personalised, evidence-based treatments for this very complex disease. They provide evidence for several novel biological pathways involved in stroke that may lead to the discovery of novel drug targets,” stated first author Dr Rainer Malik, LMU.

Vital New Insights

The findings provide important new information on the molecular mechanisms of stroke, which are currently poorly understood.


James Coker, Reporter

For the source and further information about the study, click here.

Join our mailing list

To receive the EMJ updates straight to your inbox free of charge, please click the button below.
Join Now