Section of Neurosurgery, Department of Surgery, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Department of Human Anatomy and Cell Science, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Curr Neurol Neurosci Rep. 2021 Mar 10;21(5):19. doi: 10.1007/s11910-021-01106-1.
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.
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. 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.
外伤性脑损伤（TBI）在全球范围内具有显著的疾病负担，其结果差异很大。尽管目前的预后工具纳入了临床、影像学和生化数据，但仍未能充分说明这种变异性。这种差异可能可以通过患者群体中的基因型差异来解释。在这篇综述中，我们探讨了单核苷酸多态性（SNP）与 TBI 结果的关联研究。
近年来，TBI 的 SNP 关联研究集中在整体、神经认知/神经精神病学和生理结果上。虽然 APOE 基因是研究最多的，但其他与神经修复、细胞死亡、血脑屏障、脑水肿、神经递质、线粒体和炎症细胞因子相关的基因也被研究了它们与 TBI 后各种结果的相关性。研究结果在不同研究甚至在基因内部都存在差异。SNP 关联研究提供了对外伤性脑损伤后结果可能存在差异的机制的深入了解。然而，它们的个体临床实用性通常受到样本量小和可重复性差的限制。在未来，它们可能作为未来治疗靶点的假设生成。
