Yasuno, K., Bilguvar, K., Bijlenga, P. et al. (66 more authors) (2010) Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics, 42 (5). pp. 420-425. ISSN 1061-4036
Abstract
Saccular intracranial aneurysms are balloon-like dilations of the intracranial arterial wall; their hemorrhage commonly results in severe neurologic impairment and death. We report a second genome-wide association study with discovery and replication cohorts from Europe and Japan comprising 5,891 cases and 14,181 controls with approximately 832,000 genotyped and imputed SNPs across discovery cohorts. We identified three new loci showing strong evidence for association with intracranial aneurysms in the combined dataset, including intervals near RBBP8 on 18q11.2 (odds ratio (OR) = 1.22, P = 1.1 x 10(-12)), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 x 10(-9)) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 x 10(-9)). We also confirmed prior associations near SOX17 (8q11.23-q12.1; OR = 1.28, P = 1.3 x 10(-12)) and CDKN2A-CDKN2B (9p21.3; OR = 1.31, P = 1.5 x 10(-22)). It is noteworthy that several putative risk genes play a role in cell-cycle progression, potentially affecting the proliferation and senescence of progenitor-cell populations that are responsible for vascular formation and repair.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2010 Nature America Inc. This is an author produced version of a paper subsequently published in Nature Genetics. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | Cell Cycle; Cell Proliferation; Cohort Studies; Europe; Female; Genome-Wide Association Study; Genotype; Hemorrhage; Humans; Intracranial Aneurysm; Japan; Male; Models, Genetic; Odds Ratio; Polymorphism, Single Nucleotide |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Engineering (Sheffield) > Department of Electronic and Electrical Engineering (Sheffield) |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 27 Mar 2017 13:49 |
Last Modified: | 28 Mar 2018 20:25 |
Published Version: | http://dx.doi.org/10.1038/ng.563 |
Status: | Published |
Publisher: | Nature Publishing Group |
Refereed: | Yes |
Identification Number: | 10.1038/ng.563 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:113702 |