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

被引：28

作者：

Giese, Anne-Katrin ^{[1
,2
]}

Schirmer, Markus D. ^{[1
,3
]}

Donahue, Kathleen L. ^{[1
]}

Cloonan, Lisa ^{[1
]}

Irie, Robert ^{[4
]}

Winzeck, Stefan ^{[4
]}

Bouts, Mark J. R. J. ^{[4
]}

McIntosh, Elissa C. ^{[4
]}

Mocking, Steven J. ^{[4
]}

Dalca, Adrian V. ^{[3
,4
]}

Sridharan, Ramesh ^{[3
,22
]}

Xu, Huichun ^{[5
]}

Frid, Petrea ^{[6
,8
]}

Giralt-Steinhauer, Eva ^{[10
]}

Holmegaard, Lukas ^{[11
]}

Roquer, Jaume

Wasselius, Johan ^{[1
,2
,7
,9
,10
,31
]}

Cole, John W. ^{[13
,14
]}

McArdle, Patrick F. ^{[5
]}

Broderick, Joseph P. ^{[15
]}

Jimenez-Conde, Jordi ^{[10
]}

Jern, Christina ^{[12
]}

Kissela, Brett M. ^{[15
]}

Kleindorfer, Dawn O. ^{[15
]}

Lemmens, Robin ^{[16
,17
,18
]}

Lindgren, Arne ^{[6
,19
]}

Meschia, James F. ^{[20
]}

Rundek, Tatjana ^{[21
]}

Sacco, Ralph L.

Schmidt, Reinhold

Sharma, Pankaj ^{[23
,24
]}

Slowik, Agnieszka ^{[25
]}

Thijs, Vincent ^{[26
,27
]}

Woo, Daniel ^{[15
]}

Worrall, Bradford B. ^{[28
,29
]}

Kittner, Steven J. ^{[13
,14
]}

Mitchell, Braxton D. ^{[5
,30
]}

Rosand, Jonathan

Golland, Polina ^{[3
]}

Wu, Ona ^{[4
]}

Rost, Natalia S. ^{[1
]}

机构：

[1] Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02115 USA

[2] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA

[3] MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA

[4] Harvard Med Sch, Massachusetts Gen Hosp, Athinoula A Martinos Ctr Biomed Imaging, Dept Radiol, Charlestown, MA USA

[5] Univ Maryland, Sch Med, Dept Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA

[6] Lund Univ, Dept Clin Sci Lund Neurol, Lund, Sweden

[7] Lund Univ, Dept Clin Sci Lund Radiol, Lund, Sweden

[8] Skane Univ Hosp, Dept Neurol & Rehabil Med Neurol, Malmo, Sweden

[9] Skane Univ Hosp, Dept Radiol Neuroradiol, Malmo, Sweden

[10] Univ Autonoma Barcelona, Inst Hosp Mar Invest Med, IMIM Hosp del Mar, Neurovasc Res Grp,Dept Neurol, Barcelona, Spain

[11] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden

[12] Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Gothenburg, Sweden

[13] Univ Maryland, Sch Med, Dept Neurol, Baltimore, MD 21201 USA

[14] Vet Affairs Maryland Hlth Care Syst, Baltimore, MD USA

[15] Univ Cincinnati, Coll Med, Dept Neurol & Rehabil Med, Cincinnati, OH USA

[16] KU Leuven Univ Leuven, Dept Neurosci, Expt Neurol, Leuven, Belgium

[17] VIB Ctr Brain & Dis Res, Leuven, Belgium

[18] Univ Hosp Leuven, Dept Neurol, Leuven, Belgium

[19] Skane Univ Hosp, Dept Neurol & Rehabil Med, Neurol, Lund, Sweden

[20] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[21] Univ Miami, Miller Sch Med, Dept Neurol, Miami, FL 33136 USA

[22] Med Univ Graz, Clin Div Neurogeriatr, Dept Neurol, Graz, Austria

[23] Royal Holloway Univ London ICR2UL, Inst Cardiovasc Res, Egham, Surrey, England

[24] St Peters Hosp, Surrey, England

[25] Jagiellonian Univ, Med Coll, Dept Neurol, Krakow, Poland

[26] Florey Inst Neurosci & Mental Hlth, Parkville, Vic, Australia

[27] Austin Hlth, Dept Neurol, Heidelberg, Vic, Australia

[28] Univ Virginia, Dept Neurol, Charlottesville, VA USA

[29] Univ Virginia, Dept Publ Hlth Sci, Charlottesville, VA USA

[30] Vet Adm Med Ctr, Geriatr Res & Educ Clin Ctr, Baltimore, MD 21218 USA

[31] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

来源：

NEUROLOGY-GENETICS | 2017年 / 3卷 / 05期

基金：

瑞典研究理事会;

关键词：

WHITE-MATTER HYPERINTENSITIES; GENOME-WIDE ASSOCIATION; CLASSIFICATION; METAANALYSIS;

D O I：

10.1212/NXG.0000000000000180

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.& para;& para;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.& para;& para;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.

引用

页数：8

共 39 条

[1] Novel genetic loci underlying human intracranial volume identified through genome-wide association [J].

Adams, Hieab H. H. ;

Hibar, Derrek P. ;

Chouraki, Vincent ;

Stein, Jason L. ;

Nyquist, Paul A. ;

Renteria, Miguel E. ;

Trompet, Stella ;

Arias-Vasquez, Alejandro ;

Seshadri, Sudha ;

Desrivieres, Sylvane ;

Beecham, Ashley H. ;

Jahanshad, Neda ;

Wittfeld, Katharine ;

Van der Lee, Sven J. ;

Abramovic, Lucija ;

Alhusaini, Saud ;

Amin, Najaf ;

Andersson, Micael ;

Arfanakis, Konstantinos ;

Aribisala, Benjamin S. ;

Armstrong, Nicola J. ;

Athanasiu, Lavinia ;

Axelsson, Tomas ;

Beiser, Alexa ;

Bernard, Manon ;

Bis, Joshua C. ;

Blanken, Laura M. E. ;

Blanton, Susan H. ;

Bohlken, Marc M. ;

Boks, Marco P. ;

Bralten, Janita ;

Brickman, Adam M. ;

Carmichael, Owen ;

Chakravarty, M. Mallar ;

Chauhan, Ganesh ;

Chen, Qiang ;

Ching, Christopher R. K. ;

Cuellar-Partida, Gabriel ;

Den Braber, Anouk ;

Doan, Nhat Trung ;

Ehrlich, Stefan ;

Filippi, Irina ;

Ge, Tian ;

Giddaluru, Sudheer ;

Goldman, Aaron L. ;

Gottesman, Rebecca F. ;

Greven, Corina U. ;

Grimm, Oliver ;

Griswold, Michael E. ;

Guadalupe, Tulio .

NATURE NEUROSCIENCE, 2016, 19 (12) :1569-1582

[2] CLASSIFICATION OF SUBTYPE OF ACUTE ISCHEMIC STROKE - DEFINITIONS FOR USE IN A MULTICENTER CLINICAL-TRIAL [J].

ADAMS, HP ;

BENDIXEN, BH ;

KAPPELLE, LJ ;

BILLER, J ;

LOVE, BB ;

GORDON, DL ;

MARSH, EE ;

KASE, CS ;

WOLF, PA ;

BABIKIAN, VL ;

LICATAGEHR, EE ;

ALLEN, N ;

BRASS, LM ;

FAYAD, PB ;

PAVALKIS, FJ ;

WEINBERGER, JM ;

TUHRIM, S ;

RUDOLPH, SH ;

HOROWITZ, DR ;

BITTON, A ;

MOHR, JP ;

SACCO, RL ;

CLAVIJO, M ;

ROSENBAUM, DM ;

SPARR, SA ;

KATZ, P ;

KLONOWSKI, E ;

CULEBRAS, A ;

CAREY, G ;

MARTIR, NI ;

FICARRA, C ;

HOGAN, EL ;

CARTER, T ;

GURECKI, P ;

MUNTZ, BK ;

RAMIREZLASSEPAS, M ;

TULLOCH, JW ;

QUINONES, MR ;

MENDEZ, M ;

ZHANG, SM ;

ALA, T ;

JOHNSTON, KC ;

ANDERSON, DC ;

TARREL, RM ;

NANCE, MA ;

BUDLIE, SR ;

DIERICH, M ;

HELGASON, CM ;

HIER, DB ;

SHAPIRO, RA .

STROKE, 1993, 24 (01) :35-41

[3] RECOVERY OF MOTOR FUNCTION AFTER STROKE [J].

BONITA, R ;

BEAGLEHOLE, R .

STROKE, 1988, 19 (12) :1497-1500

[4] MEASUREMENTS OF ACUTE CEREBRAL INFARCTION - A CLINICAL EXAMINATION SCALE [J].

BROTT, T ;

ADAMS, HP ;

OLINGER, CP ;

MARLER, JR ;

BARSAN, WG ;

BILLER, J ;

SPILKER, J ;

HOLLERAN, R ;

EBERLE, R ;

HERTZBERG, V ;

RORICK, M ;

MOOMAW, CJ ;

WALKER, M .

STROKE, 1989, 20 (07) :864-870

[5]

Centers for Disease Control and Prevention, Underlying Cause of Death, 1999-2020 Request

[6] Ischemic stroke:: Effects of etiology and patient age on the time course of the core apparent diffusion coefficient [J].

Copen, WA ;

Schwamm, LH ;

González, RG ;

Wu, O ;

Harmath, CB ;

Schaefer, PW ;

Koroshetz, WJ ;

Sorensen, AG .

RADIOLOGY, 2001, 221 (01) :27-34

[7]

Dalca AV, 2014, LECT NOTES COMPUT SC, V8674, P773, DOI 10.1007/978-3-319-10470-6_96

[8] Next-generation genotype imputation service and methods [J].

Das, Sayantan ;

Forer, Lukas ;

Schoenherr, Sebastian ;

Sidore, Carlo ;

Locke, Adam E. ;

Kwong, Alan ;

Vrieze, Scott I. ;

Chew, Emily Y. ;

Levy, Shawn ;

McGue, Matt ;

Schlessinger, David ;

Stambolian, Dwight ;

Loh, Po-Ru ;

Iacono, William G. ;

Swaroop, Anand ;

Scott, Laura J. ;

Cucca, Francesco ;

Kronenberg, Florian ;

Boehnke, Michael ;

Abecasis, Goncalo R. ;

Fuchsberger, Christian .

NATURE GENETICS, 2016, 48 (10) :1284-1287

[9] MR SIGNAL ABNORMALITIES AT 1.5-T IN ALZHEIMER DEMENTIA AND NORMAL AGING [J].

FAZEKAS, F ;

CHAWLUK, JB ;

ALAVI, A ;

HURTIG, HI ;

ZIMMERMAN, RA .

AMERICAN JOURNAL OF ROENTGENOLOGY, 1987, 149 (02) :351-356

[10] Genome-Wide Association Studies of Cerebral White Matter Lesion Burden: The CHARGE Consortium [J].

Fornage, Myriam ;

Debette, Stephanie ;

Bis, Joshua C. ;

Schmidt, Helena ;

Ikram, M. Arfan ;

Dufouil, Carole ;

Sigurdsson, Sigurdur ;

Lumley, Thomas ;

DeStefano, Anita L. ;

Fazekas, Franz ;

Vrooman, Henri A. ;

Shibata, Dean K. ;

Maillard, Pauline ;

Zijdenbos, Alex ;

Smith, Albert V. ;

Gudnason, Haukur ;

de Boer, Renske ;

Cushman, Mary ;

Mazoyer, Bernard ;

Heiss, Gerardo ;

Vernooij, Meike W. ;

Enzinger, Christian ;

Glazer, Nicole L. ;

Beiser, Alexa ;

Knopman, David S. ;

Cavalieri, Margherita ;

Niessen, Wiro J. ;

Harris, Tamara B. ;

Petrovic, Katja ;

Lopez, Oscar L. ;

Au, Rhoda ;

Lambert, Jean-Charles ;

Hofman, Albert ;

Gottesman, Rebecca F. ;

Garcia, Melissa ;

Heckbert, Susan R. ;

Atwood, Larry D. ;

Catellier, Diane J. ;

Uitterlinden, Andre G. ;

Yang, Qiong ;

Smith, Nicholas L. ;

Aspelund, Thor ;

Romero, Jose R. ;

Rice, Kenneth ;

Taylor, Kent D. ;

Nalls, Michael A. ;

Rotter, Jerome I. ;

Sharrett, Richey ;

van Duijn, Cornelia M. ;

Amouyel, Philippe .

ANNALS OF NEUROLOGY, 2011, 69 (06) :928-939

← 1 2 3 4 →