DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Intracranial aneurysm. The EFO term brain aneurysm was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: brain aneurysm

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Bilguvar, K Yasuno, M Niemelä, YM Ruigrok, M von Und Zu Fraunberg, CM van Duijn, LH van den Berg, S Mane, CE Mason, M Choi, E Gaál, Y Bayri, L Kolb, Z Arlier, S Ravuri, A Ronkainen, A Tajima, A Laakso, A Hata, H Kasuya, T Koivisto, J Rinne, J Ohman, MM Breteler, C Wijmenga, MW State, GJ Rinkel, J Hernesniemi, JE Jääskeläinen, A Palotie, I Inoue, RP Lifton, M Günel

TITLE:

Susceptibility loci for intracranial aneurysm in European and Japanese populations.

JOURNAL:

Nature genetics Dec 2008, Vol 40, pp. 1472-7

ABSTRACT:

Stroke is the world's third leading cause of death. One cause of stroke, intracranial aneurysm, affects approximately 2% of the population and accounts for 500,000 hemorrhagic strokes annually in mid-life (median age 50), most often resulting in death or severe neurological impairment. The pathogenesis of intracranial aneurysm is unknown, and because catastrophic hemorrhage is commonly the first sign of disease, early identification is essential. We carried out a multistage genome-wide association study (GWAS) of Finnish, Dutch and Japanese cohorts including over 2,100 intracranial aneurysm cases and 8,000 controls. Genome-wide genotyping of the European cohorts and replication studies in the Japanese cohort identified common SNPs on chromosomes 2q, 8q and 9p that 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. These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm. PUBMED: 18997786
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