| Title: | A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis |
| Journal: | Translational Stroke Research |
| Published: | 20 Oct 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/36264420/ |
| DOI: | https://doi.org/10.1007/s12975-022-01095-4 |
| URL: | https://link.springer.com/content/pdf/10.1007/s12975-022-01095-4.pdf |
Publication 10610
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Abstract
Abstract</p>
Candidate gene studies have identified genetic variants associated with clinical outcomes following aneurysmal subarachnoid haemorrhage (aSAH), but no genome-wide association studies have been performed to date. Here we report the results of the discovery phase of a two-stage genome-wide meta-analysis of outcome after aSAH. We identified 157 independent loci harbouring 756 genetic variants associated with outcome after aSAH (p < 1 × 10−4), which require validation. A single variant (rs12949158), in SPNS2, achieved genome-wide significance (p = 4.29 × 10−8) implicating sphingosine-1-phosphate signalling in outcome after aSAH. A large multicentre international effort to recruit samples for validation is required and ongoing. Validation of these findings will provide significant insight into the pathophysiology of outcomes after aSAH with potential implications for treatment.</p>
25 Authors
- Ben Gaastra
- Sheila Alexander
- Mark K. Bakker
- Hemant Bhagat
- Philippe Bijlenga
- Spiros L. Blackburn
- Malie K. Collins
- Sylvain Doré
- Christoph J. Griessenauer
- Philipp Hendrix
- Eun Pyo Hong
- Isabel C. Hostettler
- Henry Houlden
- Koji IIhara
- Jin Pyeong Jeon
- Bong Jun Kim
- Jiang Li
- Sandrine Morel
- Paul Nyquist
- Dianxu Ren
- Ynte M. Ruigrok
- David Werring
- Will Tapper
- Ian Galea
- Diederik Bulters
1 Application
| Application ID | Title |
|---|---|
| 49305 | Cognitive, auditory and other health outcomes after subarachnoid haemorrhage, and genetic determinants |
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