Potapov A A, Iusupova M M, Tendieva V D, Nikitin A G, Nosikov V V
Zh Vopr Neirokhir Im N N Burdenko. 2010 Jul-Sep(3):54-62; discussion 62.
The review focuses on the analysis of available data about association of polymorphic genetic markers of gene encoding apolipoprotein E (APOE) with traumatic brain injury (TBI). The most investigated genetic marker of poor outcome after TBI is presence of 4 allele of APOE gene. According to most authors, carriers of this allele have worse functional outcome and lower indices of restoration of cognitive functions. Studies of association of polymorphic markers A(-491)T, T(-427)C and G(-219)T, located in promoter area of APOE gene, with course and outcome of TBI in Europeans, demonstrated that only carriers of TT genotype of polymorphic marker G(-219)T had much poorer recovery in comparison with carriers of GT and TT of this marker. However, in patients with TBI belonging to Chinese population association with higher risk of neurological deterioration was discovered for another polymorphic marker of the same area, A(-491). Increased risk was observed in carriers of AA genotype which determines raised level of APOE gene expression in combination with presence of 4 allele of the same gene. Analysis of the whole clinical and experimental investigations of association of different polymorphic markers of APOE gene with course and outcome of TBI allows to conclude that product of this gene, apolipoprotein E, in fact, plays important role in processes of recovery of brain and its functions being directly involved in neuroplasticity and neurotransmission thus facilitating functional integration of different brain areas.
本综述着重分析载脂蛋白E（APOE）基因多态性遗传标记与创伤性脑损伤（TBI）之间关联的现有数据。TBI后不良预后最常被研究的遗传标记是APOE基因4等位基因的存在。根据大多数作者的观点，该等位基因的携带者功能预后较差，认知功能恢复指标较低。对位于APOE基因启动子区域的多态性标记A（-491）T、T（-427）C和G（-219）T与欧洲人TBI病程及预后的关联研究表明，只有多态性标记G（-219）T的TT基因型携带者与该标记的GT和TT基因型携带者相比，恢复情况差得多。然而，在属于中国人群的TBI患者中，发现同一区域的另一个多态性标记A（-491）与神经功能恶化风险较高有关。在AA基因型携带者中观察到风险增加，该基因型与同一基因4等位基因的存在共同决定了APOE基因表达水平的升高。对APOE基因不同多态性标记与TBI病程及预后关联的全部临床和实验研究分析表明，该基因的产物载脂蛋白E实际上在脑及其功能的恢复过程中起重要作用，直接参与神经可塑性和神经传递，从而促进不同脑区的功能整合。
