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Genetic Variation and Impact on Outcome in Traumatic Brain Injury: an Overview of Recent Discoveries

  • Neurotrauma (D. Sandsmark, Section Editor)
  • Published:
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Abstract

Purpose of Review

Traumatic brain injury (TBI) has a significant burden of disease worldwide and outcomes vary widely. Current prognostic tools fail to fully account for this variability despite incorporating clinical, radiographic, and biochemical data. This variance could possibly be explained by genotypic differences in the patient population. In this review, we explore single nucleotide polymorphism (SNP) TBI outcome association studies.

Recent Findings

In recent years, SNP association studies in TBI have focused on global, neurocognitive/neuropsychiatric, and physiologic outcomes. While the APOE gene has been the most extensively studied, other genes associated with neural repair, cell death, the blood-brain barrier, cerebral edema, neurotransmitters, mitochondria, and inflammatory cytokines have all been examined for their association with various outcomes following TBI. The results have been mixed across studies and even within genes.

Summary

SNP association studies provide insight into mechanisms by which outcomes may vary following TBI. Their individual clinical utility, however, is often limited by small sample sizes and poor reproducibility. In the future, they may serve as hypothesis generating for future therapeutic targets

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Funding

AG is supported through the University of Manitoba Clinician Investigator Program. CB is supported through the Centre on Aging Fellowship at the University of Manitoba. LF is supported through a University of Manitoba Department of Surgery GFT Grant, and through the URGP grant program. FAZ receives research support from the Manitoba Public Insurance (MPI) Neuroscience/TBI Research Endowment, the Health Sciences Centre Foundation Winnipeg, the United States National Institutes of Health (NIH) through the National Institute of Neurological Disorders and Stroke (NINDS)(Grant #: R03NS114335-01), the Canadian Institutes of Health Research (CIHR)(Grant #: 432061), the Canada Foundation for Innovation (CFI)(Project #: 38583), Research Manitoba (Grant #: 3906), the University of Manitoba VPRI Research Investment Fund (RIF), the University of Manitoba Centre on Aging, and the University of Manitoba Rudy Falk Clinician-Scientist Professorship.

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Authors and Affiliations

  1. Section of Neurosurgery, Department of Surgery, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada

    Alwyn Gomez & Frederick A. Zeiler

  2. Department of Human Anatomy and Cell Science, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada

    Alwyn Gomez, Carleen Batson & Frederick A. Zeiler

  3. Biomedical Engineering, Faculty of Engineering, University of Manitoba, Winnipeg, MB, Canada

    Logan Froese & Frederick A. Zeiler

  4. Centre on Aging, University of Manitoba, Winnipeg, MB, Canada

    Frederick A. Zeiler

  5. Division of Anaesthesia, Department of Medicine, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK

    Frederick A. Zeiler

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  1. Alwyn Gomez
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  4. Frederick A. Zeiler
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Correspondence to Frederick A. Zeiler.

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Gomez, A., Batson, C., Froese, L. et al. Genetic Variation and Impact on Outcome in Traumatic Brain Injury: an Overview of Recent Discoveries. Curr Neurol Neurosci Rep 21, 19 (2021). https://doi.org/10.1007/s11910-021-01106-1

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