Regionally clustered ABCC8 polymorphisms in a prospective cohort predict cerebral oedema and outcome in severe traumatic brain injury.
Ruchira Menka JhaTheresa A KoleckAva M PuccioDavid O OkonkwoSeo-Young ParkBenjamin E ZusmanRobert S B ClarkLori A ShutterJessica S WallischPhilip E EmpeyPatrick M KochanekYvette P ConleyPublished in: Journal of neurology, neurosurgery, and psychiatry (2018)
This study identifies four ABCC8 tag SNPs associated with cerebral oedema and/or outcome in TBI, tagging a region including 33 polymorphisms. In polymorphisms predictive of oedema, variant alleles/genotypes confer increased risk. Different variant polymorphisms were associated with favourable outcome, potentially suggesting distinct mechanisms. Significant polymorphisms spatially clustered flanking exons encoding the sulfonylurea receptor site and transmembrane domain 0/loop 0 (juxtaposing the channel pore/binding site). This, if validated, may help build a foundation for developing future strategies that may guide individualised care, treatment response, prognosis and patient selection for clinical trials.
Keyphrases
- severe traumatic brain injury
- clinical trial
- traumatic brain injury
- healthcare
- genome wide
- subarachnoid hemorrhage
- palliative care
- case report
- transcription factor
- gene expression
- cerebral ischemia
- current status
- brain injury
- study protocol
- blood brain barrier
- open label
- chronic pain
- health insurance
- double blind
- phase iii