The largest genomic study on stroke with data from worldwide populations

The IMIM and the Hospital del Mar have participated in a genomic study of stroke in which samples from two million patients of multiple ancestries have been sequenced and 61 new genes associated with the disease have been found.

The study has identified a total of 89 genes related to stroke, the second leading cause of death in the world.. Photo: Sangharsh Lohakare for Unsplash.

The GIGASTROKE consortium, which is made up of several international consortiums and institutions including the Hospital del Mar Medical Research Institute (IMIM) and Hospital del Mar, has led a genomic study of stroke that has detected new genes associated with the disease.

Samples from population databases, hospitals, biobanks and 5 clinical trials have been used for this research. More than 2.5 million patient samples were analyzed (200,000 of whom had suffered a stroke), including the 2,000 provided by the Hospital del Mar. And the results have identified a total of 89 genes associated with the disease, 61 of which were previously unknown.

“This project is the largest on genetics in stroke risk that has been carried out so far and is the result of joining the efforts of the most relevant consortiums worldwide”
Jordi Jiménez Conde (IMIM-Hospital del Mar)

The study is also innovative in that it provides a more global perspective as it is the first time that cross-risk has been analyzed across different populations. Indeed, one third of the samples came from patients of non-European descent (East and South Asia, Africa and Latin America).

This study offers genetic prediction tools, improved and validated for the first time in populations of non-European ancestry, to guide the development of new drugs.

Stroke is responsible for about 12% of deaths worldwide and further study of the genes identified in this research could point to new therapeutic targets for both prevention and treatment of the disease.

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