Faculty, Staff and Student Publications

Publication Date

10-1-2023

Journal

Translational Stroke Research

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

Humans, Subarachnoid Hemorrhage, Genome-Wide Association Study, Longitudinal Studies, Treatment Outcome

Comments

The online version contains supplementary material available at 10.1007/s12975-022-01095-4.

DOI

10.1007/s12975-021-00978-2

PMID

34988871

PMCID

PMC9232474

PubMedCentral® Posted Date

January 2022

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Included in

Neurosurgery Commons

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