Table 1.

Summary of studies in TBI correlating genetic profiles with imaging phenotypes

Gene Name	Rationale	Outcome Measure	Sample Size	Single Center	Results	Reference
CACNA1A	Association of familial hemiplegic migraine attacks and coma with minor head trauma, mechanistically linked to calcium channel mediated glutamate release	CT EEG	3 (152 control) 2	Y Y	Missense S218L present in all subjects with delayed malignant cerebral edema and absent in 152 controls and unaffected family members De novo S218L mutation in both subjects with seizures and severe cerebral edema	Kors et al. (2001) Stam et al. (2009)
APOE-ε4	Previous association reports with unfavorable outcome after TBI	Hematoma Volume (CT)	129	Y	Larger hematomas in carriers of APOE-ε4 allele	Liaquat et al. (2002)
	Neurodegenerative process accelerated after blast injury; increased risk of APOE-e4 carriers to develop Alzheimer’s Disease after TBI	White matter integrity (MRI DTI)	217	Y	Interaction between close-range blast exposure and APOE ε4 carrier status in predicting white matter disruption	Sullivan et al. (2019)
IL-1RN IL-1B	IL1-RN and IL-1B (inflammatory markers) are elevated post-trauma and implicated in blood vessel wall stability	Hematoma volume (CT)	151	Y	Association between IL-1RN*2 allele status and hemorrhage	Hadjigeorgiou et al. (2005)
NOS3	Established pathophysiologic role of endothelial nitric oxide synthase in maintenance of cerebral blood flow	Xenon CT Transcranial doppler	51	Y	Cerebral hemodynamics related to -786 T > C genotype	Robertson et al. (2011)
DAT DRD2	Dopamine transporter (DAT) binding reductions after severe TBI, role in cognition.	PET	25	Y	DAT 9-allele carrier and DRD2 A2/A2 homozygotes showed lower caudate and putamen binding	Wagner et al. (2014)
ABCC8 TRPM4	Sulfonylurea-receptor 1 (encoded by ABCC8) association with TRPM4 after brain injury creates a pore-forming channel facilitating depolarization and cerebral edema	CT ICP	385–410	Y	Regionally clustered ABCC8 and TRPM4 polymorphisms were associated with CT edema, intracranial hypertension and outcome. Significant interactions noted between predictive variants in the 2 genes.	Jha et al. (2017) Jha et al. (2018) Jha et al. (2019)