Risk Variants for Intracranial Aneurysm

An intracranial aneurysm is a dilation of a blood vessel in the brain, which can lead to haemorrhage and stroke, the latter being the world's third leading cause of death. Richard Lifton and colleagues carried out a genome-wide association study of over 2,100 Finnish, Dutch and Japanese individuals who had such an aneurysm, as well as 8,000 controls. They identified three variants associated with increased risk, including variants on chromosomes 2 and 8 that are newly implicated.

The most likely candidate to explain the risk associated with the variant on chromosome 8 is the gene SOX17, which is known to be required for formation and maintenance of endothelial cells, which line blood vessels. SOX17 also has a role in the generation of stem cells that give rise to blood cell and endothelial lineages, and the authors suggest that intracranial aneurysm may result from defective stem cell-mediated vascular development and/or repair.

Author contact:

Richard Lifton (Yale University School of Medicine, New Haven, CT, USA)
E-mail: richard.lifton@yale.edu

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza