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

中文翻译：

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遗传变异和创伤性脑损伤对结果的影响：最新发现的概述。

审查目的

创伤性脑损伤（TBI）在世界范围内具有重大的疾病负担，结果差异很大。尽管结合了临床，影像学和生化数据，当前的预后工具仍无法完全解决这一可变性。这种差异可能可以通过患者人群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）TBI结果关联研究。

最近的发现

近年来，TBI中的SNP关联研究集中于整体，神经认知/神经精神病学和生理结果。虽然APOE基因已被最广泛的研究，但其他与神经修复，细胞死亡，血脑屏障，脑水肿，神经递质，线粒体和炎性细胞因子相关的基因也已被检查，它们与TBI后的各种预后相关。整个研究甚至在基因中的结果都是混杂的。

概括

SNP关联研究提供了对在TBI之后结果可能发生变化的机制的见解。但是，它们各自的临床效用通常受到样本量小和可重复性差的限制。将来，它们可能会成为未来治疗目标的假设