Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Research output: Contribution to journalArticle


Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (n = 18), and using genetic risk scores and linkage-disequilibrium-score regression. Several loci exhibited distinct association and pleiotropy patterns for etiological stroke subtypes. Eleven new susceptibility loci indicate mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Stroke risk loci were significantly enriched in drug targets for antithrombotic therapy. © 2018 The Author(s)


External organisations
  • Ludwig-Maximilian University of Munich
  • Indian Institute of Science
  • University of Bordeaux
  • University of Cambridge
  • Centre Hospitalier Universitaire de Bordeaux
  • RIKEN Center for Integrative Medical Sciences
  • Osaka University
  • Skåne University Hospital
  • University Hospital Munich
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
  • Neurosciences
Original languageEnglish
Pages (from-to)524-537
JournalNature Genetics
Issue number4
Early online date2018 Mar 12
Publication statusPublished - 2018 Apr
Publication categoryResearch

Bibliographic note

Export Date: 20 March 2018 Article in Press