Genetic variation in NFE2L2 is associated with outcome following aneurysmal subarachnoid haemorrhage.

ABSTRACT:

Background and purpose

Nuclear factor erythroid 2-related factor 2 (NRF2; encoded by the NFE2L2 gene) has been implicated in outcome following aneurysmal subarachnoid haemorrhage (aSAH) through its activity as a regulator of inflammation, oxidative injury and blood breakdown product clearance. The aim of this study was to identify whether genetic variation in NFE2L2 is associated with clinical outcome following aSAH.

Methods

Ten tagging single nucleotide polymorphisms (SNPs) in NFE2L2 were genotyped and tested for association with dichotomized clinical outcome, assessed by the modified Rankin scale, in both a discovery and a validation cohort. In silico functional analysis was performed using a range of bioinformatic tools.

Results

One SNP, rs10183914, was significant

SUBMITTER: Gaastra B 

PROVIDER: S-EPMC10092511 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature