Evidence map›Paper›PMID 18997786›Full record

ArticleNature genetics2008

Susceptibility loci for intracranial aneurysm in European and Japanese populations.

Kaya Bilguvar, Katsuhito Yasuno, Mika Niemelä, Ynte M Ruigrok, Mikael von Und Zu Fraunberg, Cornelia M van Duijn, Leonard H van den Berg, Shrikant Mane, Christopher E Mason, Murim Choi and 23 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07233915 (Genetic Profile in Patients With Ruptured and Unruptured Intracranial Aneurysms), which is not on this map. Cited by 109 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 7 pooled it
15.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07233915 recruitingnot on this mapstarted 2014, after this paper: background citation

Genetic Profile in Patients With Ruptured and Unruptured Intracranial Aneurysms: Observational Study Aimed at Identifying Genetic Variants Associated With the Risk of Intracranial Aneurysm Rupture

TypeobservationalSponsorFondazione I.R.C.C.S. Istituto Neurologico Carlo BestaRan2014 to 2027Enrolled252ConditionsAneurism
3 · Its place in the literature

Who cites it

109 citing papers in PubMed, 7 syntheses or guidelines pooled it, 274 citations in OpenAlex.

  1. Pooled it
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  10. Review
  11. Article
  12. Biology, Physics, and Genetics of Intracranial Aneurysm Formation: A Review.Journal of neurological surgery. Part A, Central European neurosurgery · 2026
    Review
  13. Epigenetic mechanisms in aneurysm formation, growth, and rupture: A systematic review.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2025
    Review
  14. Article
  15. Review
  16. Article
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  18. Article
  19. Article
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49 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors at 13 institutions in 5 countries.

Kaya BilguvarDepartment of Neurosurgery, Neurobiology, Yale Center for Human Genetics and Genomics, Yale University School of Medicine, New Haven, CT 06510, USA.
Katsuhito Yasuno
Mika Niemelä
Ynte M Ruigrok
Mikael von Und Zu Fraunberg
Cornelia M van Duijn
Leonard H van den Berg
Shrikant Mane
Christopher E Mason
Murim Choi
Emília Gaál
Yasar Bayri
Luis Kolb
Zulfikar Arlier
Sudhakar Ravuri
Antti Ronkainen
Atsushi Tajima
Aki Laakso
Akira Hata
Hidetoshi Kasuya
Timo Koivisto
Jaakko Rinne
Juha Ohman
Monique M B Breteler
Cisca Wijmenga
Matthew W State
Gabriel J E Rinkel
Juha Hernesniemi
Juha E Jääskeläinen
Aarno Palotie
Ituro Inoue
Richard P Lifton
Murat Günel
Center for Human Genetics · USKuopio University Hospital · FIYale University · USHelsinki University Hospital · FITokai University · JPUniversity Medical Center Utrecht · NLErasmus MC · NLChiba University · JPTampere University · FITokyo Women's Medical University Adachi Medical Center · JPUniversity Medical Center Groningen · NLWellcome Sanger Institute · GBW. M. Keck Foundation · US

Funding

Yale Microarray Center for Research the Nervous SystemU24NS051869 · NINDS · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2005 to 2009
$6.9M
Molecular Genetic Pathogenesis of Intracranial AneurysmsR01NS057756 · NINDS · YALE UNIVERSITY · PI GUNEL, MURAT · 2007 to 2016
$5.3M
Howard Hughes Medical InstituteNINDS NIH HHS R01 NS057756NINDS NIH HHS U24 NS051869Wellcome Trust 089062
6 · The paper itself

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.

Indexed as

Genetic Predisposition to DiseaseAsian PeopleChromosomes, Human, Pair 2Chromosomes, Human, Pair 8Chromosomes, Human, Pair 9Genome-Wide Association StudyHumansIntracranial AneurysmPolymorphism, Single NucleotideWhite People

Identifiers

PMID18997786
PMCPMC2682433
OpenAlexW2099136866

What OpenQuestion holds

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Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.