An international study of more than 200,000 stroke patients and more than 2 million control individuals has identified 89 genetic regions implicated in the risk of developing a stroke, 61 of which had not been previously described. The results, published in Nature, provide information for understanding the pathogenesis of stroke and its subtypes. The research groups of Stroke, Neurovascular Diseases and Psychiatry, Mental Health and Addictions at the Vall d'Hebron Research Institute (VHIR) have participated in the study.

Stroke is the second leading cause of death worldwide and contributes to the loss of life expectancy. In addition, it can cause serious sequelae. The identification of possible genes related to the onset of stroke carried out in this work is important to know the biological basis of the disease, to provide tools to predict which people are at a higher risk of suffering a stroke and to favor prevention. These findings will also favor the development of new precision drugs for its treatment. The repositioning of currently marketed drugs for other indications could be a useful strategy for stroke prevention or treatment.

The combination of available gene expression data in different tissues or cell types and proteins in blood, cerebrospinal fluid or brain has enabled researchers to identify specific genes and biological mechanisms by which they contribute to the onset of stroke.

In addition, the genetic analysis of stroke in this work has been validated, for the first time, in different ethnic or population groups (European, Asian, African, South African and Latin American ancestry). Adopting a global perspective in research is key to improve the detection of new genetic associations and the understanding of the biological basis of the disease and to identify new drugs.

The study was co-led by the University of Bordeaux (France) and LMU Munich (Germany) with the participation of the international consortium International Stroke Genetics Consortium, of which the Spanish consortium GeneStroke Consortium and the Spanish cohort GCAT|Genomes for Life are members.