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

Jane M Maguire, Steve Bevan, Tara M Stanne, Erik Lorenzen, Israel Fernandez-cadenas, Graeme J Hankey, Jordi Jimenez-conde, Katarina Jood, Jin-moo Lee, Robin Lemmens, Christopher Levi, Bo Norrving, Kristiina Rannikmae, Natalia Rost, Jonathan Rosand, Peter M Rothwell, Rodney Scott, Daniel Strbian, Jonathan Sturm, Catherine SudlowMatthew Traylor, Vincent Thijs, Turgut Tatlisumak, Tadeusz Wieloch, Daniel Woo, Bradford B Worrall, Christina Jern, Arne Lindgren

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.
Original languageEnglish
JournalEuropean Stroke Journal
Early online date19 Apr 2017
DOIs
Publication statusE-pub ahead of print - 19 Apr 2017

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