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Translational Stroke Research
Article . 2022 . Peer-reviewed
License: CC BY
Data sources: Crossref
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UCL Discovery
Article . 2022
Data sources: UCL Discovery
https://dx.doi.org/10.60692/7v...
Other literature type . 2022
Data sources: Datacite
https://dx.doi.org/10.60692/qt...
Other literature type . 2022
Data sources: Datacite
Translational Stroke Research
Article . 2022 . Peer-reviewed
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A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis

دراسة للنتائج على مستوى الجينوم بعد نزيف تمدد الأوعية الدموية تحت العنكبوتية: تحليل الاكتشاف
Authors: Gaastra, Ben; Alexander, Sheila; Bakker, Mark K; Bhagat, Hemant; Bijlenga, Philippe Alexandre Pierre; Blackburn, Spiros L; Collins, Malie K; +18 Authors

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

Abstract

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.

Keywords

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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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    16
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
16
Top 10%
Average
Top 10%
Green
hybrid