
pmid: 36264420
pmc: PMC10444641
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.
FOS: Computer and information sciences, Gene, Medical Specialties, Medicine and Health Sciences, Subarachnoid Hemorrhage / complications, Longitudinal Studies, Internal medicine, Single-nucleotide polymorphism, Psychiatry, Aneurysmal Subarachnoid Hemorrhage, General Neuroscience, Stroke, Treatment Outcome, Neurology, Management and Pathophysiology of Intracerebral Hemorrhage, Medicine, Cardiology and Cardiovascular Medicine, Pulmonary and Respiratory Medicine, Genome-wide association study, 616.8, Genotype, Bioinformatics, Genetics, Medical, Neurosurgery, Clinical Neurology, 610, 616.07, Pathophysiology and Management of Cerebral Aneurysms, Medical, 616, Health Sciences, Genetics, Humans, Subarachnoid hemorrhage, Biology, Subarachnoid haemorrhage, Research, Health care, Outcome assessment, Health care, Subarachnoid Hemorrhage, Aneurysm, Management and Pathophysiology of Abdominal Aortic Aneurysms, Outcome assessment, FOS: Biological sciences, Genetic association, Surgery, Genome-Wide Association Study
FOS: Computer and information sciences, Gene, Medical Specialties, Medicine and Health Sciences, Subarachnoid Hemorrhage / complications, Longitudinal Studies, Internal medicine, Single-nucleotide polymorphism, Psychiatry, Aneurysmal Subarachnoid Hemorrhage, General Neuroscience, Stroke, Treatment Outcome, Neurology, Management and Pathophysiology of Intracerebral Hemorrhage, Medicine, Cardiology and Cardiovascular Medicine, Pulmonary and Respiratory Medicine, Genome-wide association study, 616.8, Genotype, Bioinformatics, Genetics, Medical, Neurosurgery, Clinical Neurology, 610, 616.07, Pathophysiology and Management of Cerebral Aneurysms, Medical, 616, Health Sciences, Genetics, Humans, Subarachnoid hemorrhage, Biology, Subarachnoid haemorrhage, Research, Health care, Outcome assessment, Health care, Subarachnoid Hemorrhage, Aneurysm, Management and Pathophysiology of Abdominal Aortic Aneurysms, Outcome assessment, FOS: Biological sciences, Genetic association, Surgery, Genome-Wide Association Study
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