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缺血性脑卒中的遗传学研究进展:凝血、同型半胱氨酸及脂蛋白代谢与潜在危险因素

Genetic aspects of ischemic stroke: coagulation, homocysteine, and lipoprotein metabolism as potential risk factors.

机构信息

Institute for Medical Biochemistry, University School of Pharmacy and Clinical Center of Serbia, Belgrade, Serbia.

出版信息

Crit Rev Clin Lab Sci. 2010 Mar-Apr;47(2):72-123. doi: 10.3109/10408361003791520.

Abstract

Stroke is one of the most common causes of death and long term disability throughout the world. It may be the outcome of a number of monogenic disorders or, more commonly, a polygenic multifactorial disease. Numerous studies have investigated the role of genetics in the pathogenesis of ischemic stroke, with varied and often contradictory results. The candidate 'stroke risk' genes affecting haemostasis (F5, F2, FGA/FGB, F7, F13A1, vWF, F12, SERPINE1, ITGB3/ITGA2B, ITGA2, GP1BA, TPA, TAFI, THBD, PZ, ANX5), homocysteine metabolism (MTHFR, CBS, MTR), and lipid metabolism (apo E, LPL, CETP, ABCA1, apo AI, apo CIII, apo AIV, apo AV, apo B, apo H, apo(a), PON1/2/3, LDLR/LOX-1) are evaluated in this review. By examining meta-analyses and case-control studies, we made a classification of gene/gene polymorphisms according to the degree of association with ischemic stroke risk. The data assembled could be very useful for further meta-analysis and for future clinical applications.

摘要

中风是全世界范围内最常见的死亡和长期残疾原因之一。它可能是许多单基因疾病的结果,或者更常见的是,多基因多因素疾病。许多研究已经探讨了遗传在缺血性中风发病机制中的作用,但结果各不相同,且常常相互矛盾。候选的“中风风险”基因影响止血(F5、F2、FGA/FGB、F7、F13A1、vWF、F12、SERPINE1、ITGB3/ITGA2B、ITGA2、GP1BA、TPA、TAFI、THBD、PZ、ANX5)、同型半胱氨酸代谢(MTHFR、CBS、MTR)和脂质代谢(apo E、LPL、CETP、ABCA1、apo AI、apo CIII、apo AIV、apo AV、apo B、apo H、apo(a)、PON1/2/3、LDLR/LOX-1)在本综述中进行了评估。通过检查荟萃分析和病例对照研究,我们根据与缺血性中风风险的关联程度对基因/基因多态性进行了分类。汇集的数据对于进一步的荟萃分析和未来的临床应用非常有用。

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