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Genome-wide association study of intracranial aneurysms

Updated: Apr 30

A key piece of research, often referenced in wider studies on the genetic factors and causes of brain aneurysms, looked at the genetic factors that could increase the risk of brain aneurysms (called intracranial aneurysms). The results showed a high genetic link between ruptured and unruptured brain aneurysms. A summary from the research, including a link to find out more is below.

Paper abstract

Rupture of an intracranial aneurysm leads to subarachnoid haemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.

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