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Published in: Translational Stroke Research 4/2022

Open Access 06-01-2022 | Subarachnoid Hemorrhage | Methods Paper

Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol

Authors: Ben Gaastra, Sheila Alexander, Mark K. Bakker, Hemant Bhagat, Philippe Bijlenga, Spiros Blackburn, Malie K. Collins, Sylvain Doré, Christoph Griessenauer, Philipp Hendrix, Eun Pyo Hong, Isabel C. Hostettler, Henry Houlden, Koji IIhara, Jin Pyeong Jeon, Bong Jun Kim, Munish Kumar, Sandrine Morel, Paul Nyquist, Dianxu Ren, Ynte M. Ruigrok, David Werring, Ian Galea, Diederik Bulters, Will Tapper

Published in: Translational Stroke Research | Issue 4/2022

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Abstract

Aneurysmal subarachnoid haemorrhage (aSAH) results in persistent clinical deficits which prevent survivors from returning to normal daily functioning. Only a small fraction of the variation in clinical outcome following aSAH is explained by known clinical, demographic and imaging variables; meaning additional unknown factors must play a key role in clinical outcome. There is a growing body of evidence that genetic variation is important in determining outcome following aSAH. Understanding genetic determinants of outcome will help to improve prognostic modelling, stratify patients in clinical trials and target novel strategies to treat this devastating disease. This protocol details a two-stage genome-wide association study to identify susceptibility loci for clinical outcome after aSAH using individual patient-level data from multiple international cohorts. Clinical outcome will be assessed using the modified Rankin Scale or Glasgow Outcome Scale at 1–24 months. The stage 1 discovery will involve meta-analysis of individual-level genotypes from different cohorts, controlling for key covariates. Based on statistical significance, supplemented by biological relevance, top single nucleotide polymorphisms will be selected for replication at stage 2. The study has national and local ethical approval. The results of this study will be rapidly communicated to clinicians, researchers and patients through open-access publication(s), presentation(s) at international conferences and via our patient and public network.
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Metadata
Title
Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol
Authors
Ben Gaastra
Sheila Alexander
Mark K. Bakker
Hemant Bhagat
Philippe Bijlenga
Spiros Blackburn
Malie K. Collins
Sylvain Doré
Christoph Griessenauer
Philipp Hendrix
Eun Pyo Hong
Isabel C. Hostettler
Henry Houlden
Koji IIhara
Jin Pyeong Jeon
Bong Jun Kim
Munish Kumar
Sandrine Morel
Paul Nyquist
Dianxu Ren
Ynte M. Ruigrok
David Werring
Ian Galea
Diederik Bulters
Will Tapper
Publication date
06-01-2022
Publisher
Springer US
Published in
Translational Stroke Research / Issue 4/2022
Print ISSN: 1868-4483
Electronic ISSN: 1868-601X
DOI
https://doi.org/10.1007/s12975-021-00978-2

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