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中风的遗传学:近期进展综述

Genetics of stroke: a review of recent advances.

作者信息

Domingues-Montanari Sophie, Mendioroz Maite, del Rio-Espinola Alberto, Fernández-Cadenas Israel, Montaner Joan

机构信息

Departamento de Medicina, Neurovascular Research Laboratory and Neurovascular Unit, Universitat Autònoma de Barcelona, Institut de Recerca, Hospital Vall d'Hebron, 08035 Barcelona, Spain.

出版信息

Expert Rev Mol Diagn. 2008 Jul;8(4):495-513. doi: 10.1586/14737159.8.4.495.

Abstract

Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-wide linkage analysis, of various candidate genes, including the genes encoding PDE4D and ALOX5AP. Since then, genetic research has been extensively performed from single candidate genes to whole-genome scan studies, in parallel with the development of high-throughput technologies in molecular diagnostics. Additionally, the safety and efficacy of tissue plasminogen activator, the only approved therapy for the acute phase of stroke, is modulated by genetic background associated with the occurrence of hemorrhagic transformations and with the revascularization of the cerebral arteries. In the near future, understanding the contribution of stroke genetic factors will lead to improvements in prevention and treatments for neurovascular diseases.

摘要

中风是一种多因素疾病,在工业化国家每年导致近10%的死亡。虽然已经描述了一些单基因形式的中风,但绝大多数是由常见的多基因形式的疾病引起的。分子遗传学的进展使得通过全基因组连锁分析鉴定出各种候选基因,包括编码PDE4D和ALOX5AP的基因。从那时起,随着分子诊断中高通量技术的发展,从单个候选基因到全基因组扫描研究的基因研究得到了广泛开展。此外,组织纤溶酶原激活剂是中风急性期唯一获批的治疗方法,其安全性和有效性受到与出血性转化的发生以及脑动脉再血管化相关的遗传背景的调节。在不久的将来,了解中风遗传因素的作用将有助于改善神经血管疾病的预防和治疗。

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