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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Katsuhito Yasuno - , Yale University (Autor:in)
  • Kaya Bilguvar - , Yale University (Autor:in)
  • Philippe Bijlenga - , University of Geneva (Autor:in)
  • Siew Kee Low - , The University of Tokyo (Autor:in)
  • Boris Krischek - , Eberhard Karls Universität Tübingen (Autor:in)
  • Georg Auburger - , Universitätsklinikum Frankfurt (Autor:in)
  • Matthias Simon - , Universität Bonn (Autor:in)
  • Dietmar Krex - , Klinik und Poliklinik für Neurochirurgie, Technische Universität Dresden (Autor:in)
  • Zulfikar Arlier - , Yale University (Autor:in)
  • Nikhil Nayak - , Yale University (Autor:in)
  • Ynte M. Ruigrok - , Utrecht University (Autor:in)
  • Mika Niemelä - , University of Helsinki (Autor:in)
  • Atsushi Tajima - , Tokai University (Autor:in)
  • Mikael Von Und Zu Fraunberg - , University of Eastern Finland (Autor:in)
  • Tamás Dóczi - , University of Pecs (Autor:in)
  • Florentina Wirjatijasa - , Universitätsklinikum Frankfurt (Autor:in)
  • Akira Hata - , Chiba University (Autor:in)
  • Jordi Blasco - , University of Barcelona (Autor:in)
  • Agi Oszvald - , Universitätsklinikum Frankfurt (Autor:in)
  • Hidetoshi Kasuya - , Tokyo Women's Medical University (Autor:in)
  • Gulam Zilani - , University of Oxford (Autor:in)
  • Beate Schoch - , Universität Duisburg-Essen (Autor:in)
  • Pankaj Singh - , University of Sheffield, Royal Hallamshire Hospital (Autor:in)
  • Carsten Stüer - , Technische Universität München (Autor:in)
  • Roelof Risselada - , Erasmus University Rotterdam (Autor:in)
  • Jürgen Beck - , Universitätsklinikum Frankfurt (Autor:in)
  • Teresa Sola - , Hospital General de Catalunya (Autor:in)
  • Filomena Ricciardi - , Universitätsklinikum Frankfurt (Autor:in)
  • Arpo Aromaa - , National Institute for Health and Welfare (Autor:in)
  • Thomas Illig - , Helmholtz-Zentrum für Umweltforschung (UFZ) (Autor:in)
  • Stefan Schreiber - , Christian-Albrechts-Universität zu Kiel (CAU) (Autor:in)
  • Cornelia M. Van Duijn - , Erasmus University Rotterdam, Netherlands Consortium for Health Aging (Autor:in)
  • Leonard H. Van Den Berg - , Utrecht University (Autor:in)
  • Claire Perret - , Sorbonne Université (Autor:in)
  • Carole Proust - , Sorbonne Université (Autor:in)
  • Constantin Roder - , Eberhard Karls Universität Tübingen (Autor:in)
  • Ali K. Ozturk - , Yale University (Autor:in)
  • Emília Gaál - , Yale University, University of Helsinki (Autor:in)
  • Daniela Berg - , Eberhard Karls Universität Tübingen (Autor:in)
  • Christof Geisen - , German Red Cross (Autor:in)
  • Christoph M. Friedrich - , Fraunhofer Institute for Algorithms and Scientific Computing (Autor:in)
  • Paul Summers - , University of Oxford (Autor:in)
  • Alejandro F. Frangi - , Pompeu Fabra University, CIBER - Center for Biomedical Research Network, ICREA (Autor:in)
  • Matthew W. State - , Yale University (Autor:in)
  • H. Erich Wichmann - , Helmholtz-Zentrum für Umweltforschung (UFZ) (Autor:in)
  • Monique M.B. Breteler - , Erasmus University Rotterdam, Netherlands Consortium for Health Aging (Autor:in)
  • Cisca Wijmenga - , University of Groningen (Autor:in)
  • Shrikant Mane - , Yale University (Autor:in)
  • Leena Peltonen - , Wellcome Sanger Institute, University of Helsinki (Autor:in)
  • Vivas Elio - , Hospital General de Catalunya (Autor:in)
  • Miriam C.J.M. Sturkenboom - , Erasmus University Rotterdam (Autor:in)
  • Patricia Lawford - , University of Sheffield (Autor:in)
  • James Byrne - , University of Oxford (Autor:in)
  • Juan MacHo - , University of Barcelona (Autor:in)
  • Erol I. Sandalcioglu - , Universität Duisburg-Essen (Autor:in)
  • Bernhard Meyer - , Technische Universität München (Autor:in)
  • Andreas Raabe - , Universitätsklinikum Frankfurt (Autor:in)
  • Helmuth Steinmetz - , Universitätsklinikum Frankfurt (Autor:in)
  • Daniel Rüfenacht - , University of Geneva, Klinik Hirslanden (Autor:in)
  • Juha E. Jääskeläinen - , University of Eastern Finland (Autor:in)
  • Juha Hernesniemi - , University of Helsinki (Autor:in)
  • Gabriel J.E. Rinkel - , Utrecht University (Autor:in)
  • Hitoshi Zembutsu - , The University of Tokyo (Autor:in)
  • Ituro Inoue - , Tokai University (Autor:in)
  • Aarno Palotie - , Wellcome Sanger Institute, University of Helsinki (Autor:in)
  • François Cambien - , Sorbonne Université (Autor:in)
  • Yusuke Nakamura - , The University of Tokyo (Autor:in)
  • Richard P. Lifton - , Yale University (Autor:in)
  • Murat Günel - , Yale University (Autor:in)

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 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 × 10 12), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 × 10 9) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 × 10 9). We also confirmed prior associations near SOX17 (8q11.23-q12.1; OR = 1.28, P = 1.3 × 10 12) and CDKN2A-CDKN2B (9p21.3; OR = 1.31, P = 1.5 × 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.

Details

OriginalspracheEnglisch
Seiten (von - bis)420-425
Seitenumfang6
FachzeitschriftNature Genetics
Jahrgang42
Ausgabenummer5
PublikationsstatusVeröffentlicht - Mai 2010
Peer-Review-StatusJa

Externe IDs

Scopus 77951768060
PubMed 20364137

Schlagworte

ASJC Scopus Sachgebiete