Dataset Information

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

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 contributed MRIs 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 the manual and automated assessments of established MRI markers. A high-throughput MRI 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.

SUBMITTER: Giese AK

PROVIDER: S-EPMC5570675 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Publications

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

Giese Anne-Katrin AK Schirmer Markus D MD Donahue Kathleen L KL Cloonan Lisa L Irie Robert R Winzeck Stefan S Bouts Mark J R J MJRJ McIntosh Elissa C EC Mocking Steven J SJ Dalca Adrian V AV Sridharan Ramesh R Xu Huichun H Frid Petrea P Giralt-Steinhauer Eva E Holmegaard Lukas L Roquer Jaume J Wasselius Johan J Cole John W JW McArdle Patrick F PF Broderick Joseph P JP Jimenez-Conde Jordi J Jern Christina C Kissela Brett M BM Kleindorfer Dawn O DO Lemmens Robin R Lindgren Arne A Meschia James F JF Rundek Tatjana T Sacco Ralph L RL Schmidt Reinhold R Sharma Pankaj P Slowik Agnieszka A Thijs Vincent V Woo Daniel D Worrall Bradford B BB Kittner Steven J SJ Mitchell Braxton D BD Rosand Jonathan J Golland Polina P Wu Ona O Rost Natalia S NS

Neurology. Genetics 20170824 5

<h4>Objective</h4>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.<h4>Methods</h4>MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributed MRIs of 3,301 patients with AIS. Detailed clinical phe ...[more]

PMID: 28852707

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Project description:<p>The third leading cause of death in the United States, stroke is an acute neurological event leading to death of neural tissues. Although the majority of strokes are ischemic strokes, meaning there is oxygen deprivation to the brain, almost 20% of strokes are hemorrhagic, resulting from bleeding into the brain. Stroke is a complex disorder and likely multigenic in nature, resulting from a combination of genetic and environmental factors. These well characterized risk factors that contribute to the incidence of stroke include hypertension, cardiac disease, sickle cell disease, hyperhomocysteinemia, family history of stroke and smoking. </p> <p>ISGS aim is to perform a prospective genetic association study of ischemic stroke focusing on the hemostatic system. ISGS is a 5-center case-control study of first-ever ischemic stroke cases and concurrent controls individually matched for age, sex and recruitment site. </p> <p>This data includes that from subjects both banked in the <a href="http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10"> NINDS repository</a> with biologicals publicly available, and those whose samples are not banked/not available. </p>  <p>This study utilized the <a href="./study.cgi?id=phs000005">NINDS Repository Cerebrovascular/Stroke Study</a>, and <a href="./study.cgi?id=phs000004">neurologically normal controls</a> from the sample population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection for a first stage whole genome analysis.</p>

Dataset Information

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

Objective

Methods

Conclusions

Publications

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

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