Usher Institute

Landmark stroke study could hold key to new therapies

Fresh insights into the biological causes of stroke could pave the way for new therapies, following a major study.

Scientists analysed DNA samples from more than 500,000 people around the world to pinpoint regions of the genetic code that are associated with stroke.

DNA study

The international team identified 32 separate areas of DNA linked to the condition – three times as many as were known before – revealing the clearest picture yet of the biological mechanisms underpinning stroke.

Experts say the findings could reveal opportunities to develop new treatments.

This is a landmark study in stroke genetics. It has uncovered several biological pathways that were not previously implicated in stroke that may lead to the discovery of new drug targets.

Professor Cathie SudlowHead of Centre for Medical Informatics, Usher Institute

Global research

The study was carried out by researchers from 184 institutions worldwide, including experts from the University of Edinburgh’s Usher Institute.

Many of the DNA regions they pinpointed overlap with those known to be implicated in related conditions linked to circulation, including coronary artery disease and thrombosis.

We can’t overstate the importance of international collaboration across different ethnic origins when studying genetics of complex, common diseases such as stroke. This large-scale collaboration across continents has been a game changer.

Professor Stephanie DebetteUniversity of Bordeaux

Shared genes

Some highlighted areas of DNA were found to be common to different types of stroke, which were previously thought to have differing disease pathways.

The team also analysed gene and protein data from lab tests on multiple cell types and tissues – such as heart, vascular and brain samples – to probe where in the body the relevant genetic regions take effect.


Stroke is the second most common cause of death and disability worldwide, but the biological pathways behind the condition are poorly understood. This has made developing new treatments challenging.

The study is published in Nature Genetics.

Related links

Journal article

Edinburgh Medical School