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. Broderick & 21 others Jordi 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 journalArticle

2 Citations (Scopus)

Abstract

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
Volume3
Issue number5
DOIs
StatePublished - Oct 1 2017

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Neuroimaging
Stroke
Phenotype
Cerebrovascular Disorders
Genetic Testing
Patient Care
Outcome Assessment (Health Care)
Genome

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Giese, A. K., Schirmer, M. D., Donahue, K. L., Cloonan, L., Irie, R., Winzeck, S., ... Rost, N. S. (2017). Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study. Neurology: Genetics, 3(5), [e180]. https://doi.org/10.1212/NXG.0000000000000180

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

In: Neurology: Genetics, Vol. 3, No. 5, e180, 01.10.2017.

Research output: Contribution to journalArticle

Giese, AK, Schirmer, MD, Donahue, KL, Cloonan, L, Irie, R, Winzeck, S, Bouts, MJRJ, McIntosh, EC, Mocking, SJ, Dalca, AV, Sridharan, R, Xu, H, Frid, P, Giralt-Steinhauer, E, Holmegaard, L, Roquer, J, Wasselius, J, Cole, JW, McArdle, PF, Broderick, JP, Jimenez-Conde, J, Jern, C, Kissela, BM, Kleindorfer, DO, Lemmens, R, Lindgren, A, Meschia, JF, Rundek, T, Sacco, RL, Schmidt, R, Sharma, P, Slowik, A, Thijs, V, Woo, D, Worrall, BB, Kittner, SJ, Mitchell, BD, Rosand, J, Golland, P, Wu, O & Rost, NS 2017, 'Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study', Neurology: Genetics, vol. 3, no. 5, e180. https://doi.org/10.1212/NXG.0000000000000180
Giese, Anne Katrin ; Schirmer, Markus D. ; Donahue, Kathleen L. ; Cloonan, Lisa ; Irie, Robert ; Winzeck, Stefan ; Bouts, Mark J.R.J. ; McIntosh, Elissa C. ; Mocking, Steven J. ; Dalca, Adrian V. ; Sridharan, Ramesh ; Xu, Huichun ; Frid, Petrea ; Giralt-Steinhauer, Eva ; Holmegaard, Lukas ; Roquer, Jaume ; Wasselius, Johan ; Cole, John W. ; McArdle, Patrick F. ; Broderick, Joseph P. ; Jimenez-Conde, Jordi ; Jern, Christina ; Kissela, Brett M. ; Kleindorfer, Dawn O. ; Lemmens, Robin ; Lindgren, Arne ; Meschia, James F ; Rundek, Tatjana ; Sacco, Ralph L. ; Schmidt, Reinhold ; Sharma, Pankaj ; Slowik, Agnieszka ; Thijs, Vincent ; Woo, Daniel ; Worrall, Bradford B. ; Kittner, Steven J. ; Mitchell, Braxton D. ; Rosand, Jonathan ; Golland, Polina ; Wu, Ona ; Rost, Natalia S. / Design and rationale for examining neuroimaging genetics in ischemic stroke : The MRI-GENIE study. In: Neurology: Genetics. 2017 ; Vol. 3, No. 5.
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abstract = "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.",
author = "Giese, {Anne Katrin} and Schirmer, {Markus D.} and Donahue, {Kathleen L.} and Lisa Cloonan and Robert Irie and Stefan Winzeck and Bouts, {Mark J.R.J.} and McIntosh, {Elissa C.} and Mocking, {Steven J.} and Dalca, {Adrian V.} and Ramesh Sridharan and Huichun Xu and Petrea Frid and Eva Giralt-Steinhauer and Lukas Holmegaard and Jaume Roquer and Johan Wasselius and Cole, {John W.} and McArdle, {Patrick F.} and Broderick, {Joseph P.} and Jordi Jimenez-Conde and Christina Jern and Kissela, {Brett M.} and Kleindorfer, {Dawn O.} and Robin Lemmens and Arne Lindgren and Meschia, {James F} and Tatjana Rundek and Sacco, {Ralph L.} and Reinhold Schmidt and Pankaj Sharma and Agnieszka Slowik and Vincent Thijs and Daniel Woo and Worrall, {Bradford B.} and Kittner, {Steven J.} and Mitchell, {Braxton D.} and Jonathan Rosand and Polina Golland and Ona Wu and Rost, {Natalia S.}",
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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.

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