GISCOME - Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study

Jane M Maguire^{1

2

3}, Steve Bevan⁴, Tara M Stanne⁵, Erik Lorenzen⁵, Israel Fernandez-Cadenas^{6

7}, Graeme J Hankey⁸, Jordi Jimenez-Conde^{9

10}, Katarina Jood⁵, Jin-Moo Lee¹¹, Robin Lemmens^{12

13

14}, Christopher Levi^{2

3

15}, Bo Norrving^{16

17}, Kristiina Rannikmae¹⁸, Natalia Rost¹⁹, Jonathan Rosand^{19

20

21}, Peter M Rothwell²², Rodney Scott^{1

2}, Daniel Strbian²³, Jonathan Sturm¹⁵, Cathie Sudlow¹⁸, Matthew Traylor²⁴, Vincent Thijs^{25

26}, Turgut Tatlisumak^{5

23}, Tadeusz Wieloch¹⁶, Daniel Woo²⁷, Bradford B Worrall^{28

29}, Christina Jern⁵, Arne Lindgren^{16

17}

Affiliations

¹ Faculty of Health, University of Technology, Australia.
² Hunter Medical Research Institute, University of Newcastle, Australia.
³ Priority Research Centre for Stroke and Traumatic Brain Injury, University of Newcastle, Australia.
⁴ School of Life Sciences, University of Lincoln, UK.
⁵ Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Sweden.
⁶ Stroke Pharmacogenomics and Genetics, Fundació Docència I Recerca Mutuaterrassa, Mutua de Terrassa Hospital, Spain.
⁷ Neurovascular Research Laboratory and Neurovascular Unit, Neurology and Medicine Departments - Universitat Autònoma de Barcelona, Vall d'Hebrón Hospital, Spain.
⁸ School of Medicine and Pharmacology, The University of Western Australia, Australia.
⁹ Department of Neurology, Institut Hospital del Mar d'Investigació Mèdica (IMIM), Spain.
¹⁰ Department of Neurology, Hospital del Mar; Neurovascular Research Group, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques); Universitat Autònoma de Barcelona/DCEXS.
¹¹ Department of Neurology, Washington University School of Medicine, USA.
¹² Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Belgium.
¹³ Laboratory of Neurobiology, VIB, Vesalius Research Center, Belgium.
¹⁴ Department of Neurology, University Hospitals Leuven, Belgium.
¹⁵ Faculty of Health and Medicine, University of Newcastle, Australia.
¹⁶ Department of Clinical Sciences Lund, Neurology, Lund University, Sweden.
¹⁷ Department of Neurology and Rehabilitation Medicine, Skane University Hospital, Sweden.
¹⁸ Centre for Clinical Brain Sciences, University of Edinburgh, UK.
¹⁹ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, USA.
²⁰ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, USA.
²¹ Center for Human Genetic Research, Massachusetts General Hospital, USA.
²² Stroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, UK.
²³ Department of Neurology, Helsinki University Hospital, Finland.
²⁴ Department of Clinical Neurosciences, University of Cambridge, UK.
²⁵ Department of Neurology, Austin Health, Heidelberg, Australia.
²⁶ Florey Institute for Neuroscience and Mental Health, University of Melbourne, Australia.
²⁷ Department of Neurology and Rehabilitation, University of Cincinnati, College of Medicine, USA.
²⁸ Department of Neurology, University of Virginia, USA.
²⁹ Department of Health Evaluation Sciences, University of Virginia, USA.

PMID: 31008316
PMCID: PMC6454830
DOI: 10.1177/2396987317704547

GISCOME - Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study

Jane M Maguire et al. Eur Stroke J. 2017 Sep.

. 2017 Sep;2(3):229-237.

doi: 10.1177/2396987317704547. Epub 2017 Apr 19.

Authors

Affiliations

¹ Faculty of Health, University of Technology, Australia.
² Hunter Medical Research Institute, University of Newcastle, Australia.
³ Priority Research Centre for Stroke and Traumatic Brain Injury, University of Newcastle, Australia.
⁴ School of Life Sciences, University of Lincoln, UK.
⁵ Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Sweden.
⁶ Stroke Pharmacogenomics and Genetics, Fundació Docència I Recerca Mutuaterrassa, Mutua de Terrassa Hospital, Spain.
⁷ Neurovascular Research Laboratory and Neurovascular Unit, Neurology and Medicine Departments - Universitat Autònoma de Barcelona, Vall d'Hebrón Hospital, Spain.
⁸ School of Medicine and Pharmacology, The University of Western Australia, Australia.
⁹ Department of Neurology, Institut Hospital del Mar d'Investigació Mèdica (IMIM), Spain.
¹⁰ Department of Neurology, Hospital del Mar; Neurovascular Research Group, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques); Universitat Autònoma de Barcelona/DCEXS.
¹¹ Department of Neurology, Washington University School of Medicine, USA.
¹² Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Belgium.
¹³ Laboratory of Neurobiology, VIB, Vesalius Research Center, Belgium.
¹⁴ Department of Neurology, University Hospitals Leuven, Belgium.
¹⁵ Faculty of Health and Medicine, University of Newcastle, Australia.
¹⁶ Department of Clinical Sciences Lund, Neurology, Lund University, Sweden.
¹⁷ Department of Neurology and Rehabilitation Medicine, Skane University Hospital, Sweden.
¹⁸ Centre for Clinical Brain Sciences, University of Edinburgh, UK.
¹⁹ Department of Neurology, Massachusetts General Hospital, Harvard Medical School, USA.
²⁰ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, USA.
²¹ Center for Human Genetic Research, Massachusetts General Hospital, USA.
²² Stroke Prevention Research Unit, Nuffield Department of Clinical Neurosciences, University of Oxford, UK.
²³ Department of Neurology, Helsinki University Hospital, Finland.
²⁴ Department of Clinical Neurosciences, University of Cambridge, UK.
²⁵ Department of Neurology, Austin Health, Heidelberg, Australia.
²⁶ Florey Institute for Neuroscience and Mental Health, University of Melbourne, Australia.
²⁷ Department of Neurology and Rehabilitation, University of Cincinnati, College of Medicine, USA.
²⁸ Department of Neurology, University of Virginia, USA.
²⁹ Department of Health Evaluation Sciences, University of Virginia, USA.

PMID: 31008316
PMCID: PMC6454830
DOI: 10.1177/2396987317704547

Abstract

Introduction: Genome-wide association studies have identified several novel genetic loci associated with stroke risk, but how genetic factors influence stroke outcome is less studied. The Genetics of Ischaemic Stroke Functional outcome network aims at performing genetic studies of stroke outcome. We here describe the study protocol and methods basis of Genetics of Ischaemic Stroke Functional outcome.

Methods: The Genetics of Ischaemic Stroke Functional outcome network has assembled patients from 12 ischaemic stroke projects with genome-wide genotypic and outcome data from the International Stroke Genetics Consortium and the National Institute of Neurological Diseases Stroke Genetics Network initiatives. We have assessed the availability of baseline variables, outcome metrics and time-points for collection of outcome data.

Results: We have collected 8831 ischaemic stroke cases with genotypic and outcome data. Modified Rankin score was the outcome metric most readily available. We detected heterogeneity between cohorts for age and initial stroke severity (according to the NIH Stroke Scale), and will take this into account in analyses. We intend to conduct a first phase genome-wide association outcome study on ischaemic stroke cases with data on initial stroke severity and modified Rankin score within 60-190 days. To date, we have assembled 5762 such cases and are currently seeking additional cases meeting these criteria for second phase analyses.

Conclusion: Genetics of Ischaemic Stroke Functional outcome is a unique collection of ischaemic stroke cases with detailed genetic and outcome data providing an opportunity for discovery of genetic loci influencing functional outcome. Genetics of Ischaemic Stroke Functional outcome will serve as an exploratory study where the results as well as the methodological observations will provide a basis for future studies on functional outcome. Genetics of Ischaemic Stroke Functional outcome can also be used for candidate gene replication or assessing stroke outcome non-genetic association hypotheses.

Keywords: Genetic association studies; functional outcome; stroke.

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References

1. Feigin VL, Forouzanfar MH, Krishnamurthi R, et al. Global and regional burden of stroke during 1990-2010: findings from the Global Burden of Disease Study 2010. Lancet 2014; 383: 245–254. - PMC - PubMed
1. Feigin VL, Krishnamurthi RV, Parmar P, et al. Update on the global burden of ischemic and hemorrhagic stroke in 1990–2013: The GBD 2013 study. Neuroepidemiology 2015; 45: 161–176. - PMC - PubMed
1. Ullberg T, Zia E, Petersson J, et al. Changes in functional outcome over the first year after stroke: an observational study from the Swedish stroke register. Stroke 2015; 46: 389–394. - PubMed
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GISCOME - Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study

Affiliations

GISCOME - Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study

Authors

Affiliations

Abstract

References

LinkOut - more resources

Full Text Sources

Molecular Biology Databases