Seventeen genetic abnormalities that cause brain aneurysms

An aneurysm is a natural dome ( in blue ) that usually grows at an intracerebral arterial bifurcation aimed at decreasing the friction forces ( in red ) and thus allowing the vessel to heal. Multiple factors participate in the healing of the vessel wall; danger comes however from the risk of rupture. UNIGE-HUG - By studying the genomes of hundreds of thousands of people, scientists from UNIGE, HUG and the University of Utrecht discovered the genetic basis of intracranial aneurysms. Nearly three percent of the world's population is at risk of developing an intracranial aneurysm, a localized dilation of a blood vessel forming a fragile pocket. Rupture of this aneurysm results in extremely severe, and, in one-third of cases, fatal haemorrhage. In the framework of the International Stroke Genetics Consortium, a team led by the University of Geneva , the University Hospitals of Geneva (HUG) and the University of Utrecht is studying the genetic determinants of aneurysms in order to better understand the different forms of the disease and to assess individual risk. Through the examination of the genome of more than 10,000 people suffering from aneurysms compared to that of 300,000 healthy volunteers, 17 genetic abnormalities have been identified that are notably involved in the functioning of the vascular endothelium, the inner lining of blood vessels.