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Stroke genetics and genomics

Final Activity Report Summary - STROKEGEN (Stroke genetics and genomics)

Stroke is a "brain attack" cutting off vital blood and oxygen to the brain cells that control everything we do. It is the third cause of death in developed countries and is even more disabling than lethal. Stroke is a devastating disease with a very high socio-economic cost and impact. The most common form of stroke is a complex disorder resulting from the interplay of environmental and genetic factors, but its genetic underpinnings remain elusive. Stroke is also the most preventable neurological disease and the identification of genetic risk factors for stroke has the potential to cause preventive lifestyle changes in individuals at risk that will ultimately result in a decrease of the number of strokes.

The ultimate goal of this research was to identify new susceptibility genes for the risk of developing the common form of stroke, genes that control the age at which the first stroke occurs (age-at-onset) and genes that influence the recovery after a stroke. We used the traditional candidate gene strategy and the novel "genomic convergence" approach that combines genomic screening, expression analysis and association studies.

During this fellowship we established a high quality stroke biobank and database of more than 500 cases and 500 controls. We tested the association of over 10 candidate genes and found some interesting associations. Most notably, we found that mitochondrial haplogroup H1 is protective for ischemic stroke. We performed gene profiling in blood of stroke patients and controls and tested the association of genes prioritised through the genomic convergence. Several of those genes showed promising associations that are being followed up.

This fellowship contributed to the establishment of this critically important research. The field of stroke genetics is now expanding in several important laboratories worldwide and we have pioneered research in this field while it was still believed to be too complex to be worth pursuing.