Publication

A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis.

Journal Paper/Review - Oct 20, 2022

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Citation
Gaastra B, Alexander S, Bakker M, Bhagat H, Bijlenga P, Blackburn S, Collins M, Doré S, Griessenauer C, Hendrix P, Hong E, Hostettler I, Houlden H, IIhara K, Jeon J, Kim B, Li J, Morel S, Nyquist P, Ren D, Ruigrok Y, Werring D, Tapper W, Galea I, Bulters D. A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis. Transl Stroke Res 2022
Type
Journal Paper/Review (English)
Journal
Transl Stroke Res 2022
Publication Date
Oct 20, 2022
Issn Electronic
1868-601X
Brief description/objective

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), which require validation. A single variant (rs12949158), in SPNS2, achieved genome-wide significance (p = 4.29 × 10) 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.