Journal
TRANSLATIONAL STROKE RESEARCH
Volume 14, Issue 5, Pages 681-687Publisher
SPRINGER
DOI: 10.1007/s12975-022-01095-4
Keywords
Subarachnoid haemorrhage; Stroke; Outcome assessment, Health care; Genetics, Medical
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This study identified 157 genetic variants associated with outcomes after aneurysmal subarachnoid haemorrhage (aSAH) through a genome-wide association study, with one variant in the SPNS2 gene achieving genome-wide significance. Validation of these findings will provide significant insights into the pathophysiology of outcomes after aSAH and may have implications for treatment.
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 x 10(-4)), which require validation. A single variant (rs12949158), in SPNS2, achieved genome-wide significance (p = 4.29 x 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.
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