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创伤性脑损伤患者的遗传关联研究。

Genetic association studies in patients with traumatic brain injury.

机构信息

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

出版信息

Neurosurg Focus. 2010 Jan;28(1):E9. doi: 10.3171/2009.10.FOCUS09215.

Abstract

Traumatic brain injury (TBI) constitutes a major cause of mortality and disability worldwide, especially among young individuals. It is estimated that despite all the recent advances in the management of TBI, approximately half of the patients suffering head injuries still have unfavorable outcomes, which represents a substantial health care, social, and economic burden to societies. Considerable variability exists in the clinical outcome after TBI, which is only partially explained by known factors. Accumulating evidence has implicated various genetic elements in the pathophysiology of brain trauma. The extent of brain injury after TBI seems to be modulated to some degree by genetic variants. The authors' current review focuses on the up-to-date state of knowledge regarding genetic association studies in patients sustaining TBI, with particular emphasis on the mechanisms underlying the implication of genes in the pathophysiology of TBI.

摘要

创伤性脑损伤(TBI)是全球范围内导致死亡和残疾的主要原因,尤其是在年轻人中。据估计,尽管最近在 TBI 的治疗方面取得了所有进展,但仍有约一半的头部受伤患者的预后不良,这对社会造成了巨大的医疗保健、社会和经济负担。TBI 后的临床结果存在相当大的可变性,这仅部分可以用已知因素来解释。越来越多的证据表明,各种遗传因素参与了脑外伤的病理生理学过程。TBI 后的脑损伤程度在某种程度上受到遗传变异的调节。作者目前的综述重点介绍了关于 TBI 患者的遗传关联研究的最新知识状态,特别强调了基因在 TBI 病理生理学中的作用机制。

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