Publikation
A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis.
Wissenschaftlicher Artikel/Review - 20.10.2022
Gaastra Ben, Alexander Sheila, Bakker Mark K, Bhagat Hemant, Bijlenga Philippe, Blackburn Spiros, Collins Malie K, Doré Sylvain, Griessenauer Christoph J, Hendrix Philipp, Hong Eun Pyo, Hostettler Isabel C, Houlden Henry, IIhara Koji, Jeon Jin Pyeong, Kim Bong Jun, Li Jiang, Morel Sandrine, Nyquist Paul, Ren Dianxu, Ruigrok Ynte M, Werring David, Tapper Will, Galea Ian, Bulters Diederik
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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.