Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

Anne Katrin Giese, Markus D. Schirmer, Kathleen L. Donahue, Lisa Cloonan, Robert Irie, Stefan Winzeck, Mark J.R.J. Bouts, Elissa C. McIntosh, Steven J. Mocking, Adrian V. Dalca, Ramesh Sridharan, Huichun Xu, Petrea Frid, Eva Giralt-Steinhauer, Lukas Holmegaard, Jaume Roquer, Johan Wasselius, John W. Cole, Patrick F. McArdle, Joseph P. BroderickJordi Jimenez-Conde, Christina Jern, Brett M. Kissela, Dawn O. Kleindorfer, Robin Lemmens, Arne Lindgren, James F. Meschia, Tatjana Rundek, Ralph L. Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Vincent Thijs, Daniel Woo, Bradford B. Worrall, Steven J. Kittner, Braxton D. Mitchell, Jonathan Rosand, Polina Golland, Ona Wu, Natalia S. Rost

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Objective: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. Methods: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributedMRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants. Neuroimaging analyses include themanual and automated assessments of established MRI markers. A high-throughputMRI analysis pipeline for the automated assessment of cerebrovascular lesions on clinical scans will be developed in a subset of scans for both acute and chronic lesions, validated against gold standard, and applied to all available scans. The extracted neuroimaging phenotypes will improve characterization of acute and chronic cerebrovascular lesions in ischemic stroke, including CCS subtypes, and their effect on functional outcomes after stroke. Moreover, genetic testing will uncover variants associated with acute and chronic MRI manifestations of cerebrovascular disease.Conclusions: The MRI-GENIE study aims to develop, validate, and distribute the MRI analysis platform for scans acquired as part of clinical care for patients with AIS, which will lead to (1) novel genetic discoveries in ischemic stroke, (2) strategies for personalized stroke risk assessment, and (3) personalized stroke outcome assessment.

Original languageEnglish (US)
Article numbere180
JournalNeurology: Genetics
Issue number5
StatePublished - Oct 1 2017

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)


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