GeneSet Information

Tier I GS270912 • GWAS Catalog Data for brain aneurysm in 2,780 European ancestry cases, 12,515 European ancestry controls

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:

2019-01-07

SPECIES:

AUTHORS:

K Yasuno, K Bilguvar, P Bijlenga, SK Low, B Krischek, G Auburger, M Simon, D Krex, Z Arlier, N Nayak, YM Ruigrok, M Niemelä, A Tajima, M von und zu Fraunberg, T Dóczi, F Wirjatijasa, A Hata, J Blasco, A Oszvald, H Kasuya, G Zilani, B Schoch, P Singh, C Stüer, R Risselada, J Beck, T Sola, F Ricciardi, A Aromaa, T Illig, S Schreiber, CM van Duijn, LH van den Berg, C Perret, C Proust, C Roder, AK Ozturk, E Gaál, D Berg, C Geisen, CM Friedrich, P Summers, AF Frangi, MW State, HE Wichmann, MM Breteler, C Wijmenga, S Mane, L Peltonen, V Elio, MC Sturkenboom, P Lawford, J Byrne, J Macho, EI Sandalcioglu, B Meyer, A Raabe, H Steinmetz, D Rüfenacht, JE Jääskeläinen, J Hernesniemi, GJ Rinkel, H Zembutsu, I Inoue, A Palotie, F Cambien, Y Nakamura, RP Lifton, M Günel

TITLE:

Genome-wide association study of intracranial aneurysm identifies three new risk loci.

JOURNAL:

Nature genetics May 2010, Vol 42, pp. 420-5

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. PUBMED: 20364137
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Annotation Information



brain aneurysm (EFO:0003870)

Gene List • 8 Genes

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