Susceptibility loci for intracranial aneurysm in European and Japanese populations

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November 10, 2008 by Cafer Zorkun [1]

Boston, MA: According to the multistage genome-wide association study (GWAS) results; common SNPs on chromosomes 2q, 8q and 9p show significant association with intracranial aneurysm with odds ratios 1.24–1.36. The loci on 2q and 8q are new, whereas the 9p locus was previously found to be associated with arterial diseases, including intracranial aneurysm. Associated SNPs on 8q likely act via SOX17, which is required for formation and maintenance of endothelial cells, suggesting a role in development and repair of the vasculature; CDKN2A at 9p may have a similar role. GWAS investigators concluded that these findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm.

GWAS (Genome-Wide Association Study) evaluated over 2.100 intracranial aneurysm cases and 8.000 controls from Finnish, Dutch and Japanese cohorts, and published by Bilguvar K, Yasuno K, Niemela M et. al. in the latest issue of Nature Genetics.

This study supported by the Yale Center for Human Genetics and Genomics and the Yale Program on Neurogenetics, the US National Institutes of Health grants, the Howard Hughes Medical Institute, Lawrence Family, The Netherlands Heart Foundation, the Core Research for Evolutional Science and Technology, and Japan Science and Technology Corporation.


1. Bilguvar K, Yasuno K, Niemela M et. al., Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics, Advance Online Publication. Published online: 9 November 2008 | doi:10.1038/ng.240. [2]