TY - JOUR
T1 - Design and rationale for examining neuroimaging genetics in ischemic stroke
T2 - The MRI-GENIE study
AU - Giese, Anne Katrin
AU - Schirmer, Markus D.
AU - Donahue, Kathleen L.
AU - Cloonan, Lisa
AU - Irie, Robert
AU - Winzeck, Stefan
AU - Bouts, Mark J.R.J.
AU - McIntosh, Elissa C.
AU - Mocking, Steven J.
AU - Dalca, Adrian V.
AU - Sridharan, Ramesh
AU - Xu, Huichun
AU - Frid, Petrea
AU - Giralt-Steinhauer, Eva
AU - Holmegaard, Lukas
AU - Roquer, Jaume
AU - Wasselius, Johan
AU - Cole, John W.
AU - McArdle, Patrick F.
AU - Broderick, Joseph P.
AU - Jimenez-Conde, Jordi
AU - Jern, Christina
AU - Kissela, Brett M.
AU - Kleindorfer, Dawn O.
AU - Lemmens, Robin
AU - Lindgren, Arne
AU - Meschia, James F.
AU - Rundek, Tatjana
AU - Sacco, Ralph L.
AU - Schmidt, Reinhold
AU - Sharma, Pankaj
AU - Slowik, Agnieszka
AU - Thijs, Vincent
AU - Woo, Daniel
AU - Worrall, Bradford B.
AU - Kittner, Steven J.
AU - Mitchell, Braxton D.
AU - Rosand, Jonathan
AU - Golland, Polina
AU - Wu, Ona
AU - Rost, Natalia S.
PY - 2017/10/1
Y1 - 2017/10/1
N2 - 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.
AB - 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.
U2 - 10.1212/NXG.0000000000000180
DO - 10.1212/NXG.0000000000000180
M3 - Article
C2 - 28852707
AN - SCOPUS:85052666132
SN - 2376-7839
VL - 3
JO - Neurology: Genetics
JF - Neurology: Genetics
IS - 5
M1 - e180
ER -