| Literature DB >> 36264420 |
Ben Gaastra1,2, Sheila Alexander3, Mark K Bakker4, Hemant Bhagat5, Philippe Bijlenga6, Spiros L Blackburn7, Malie K Collins8, Sylvain Doré9, Christoph J Griessenauer10,11, Philipp Hendrix10,12, Eun Pyo Hong13, Isabel C Hostettler14,15, Henry Houlden14, Koji IIhara16, Jin Pyeong Jeon13,17, Bong Jun Kim13, Jiang Li18, Sandrine Morel6,19, Paul Nyquist20, Dianxu Ren3, Ynte M Ruigrok4, David Werring14, Will Tapper21, Ian Galea1, Diederik Bulters2.
Abstract
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.Entities:
Keywords: Genetics, Medical; Outcome assessment, Health care; Stroke; Subarachnoid haemorrhage
Year: 2022 PMID： 36264420 DOI： 10.1007/s12975-022-01095-4
Source DB: PubMed Journal: Transl Stroke Res ISSN： 1868-4483 Impact factor: 6.800