Center for Human Genetic Research, and Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA; Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA.
Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University Munich, Munich, Germany.
Lancet Neurol. 2014 Apr;13(4):405-18. doi: 10.1016/S1474-4422(14)70029-8.
Driven by innovative technologies, novel analytical methods, and collaborations unimaginable not long ago, our understanding of the role of genetic variation in stroke has advanced substantially in recent years. However, a vast amount of data have accumulated quickly, and increasingly complex methodologies used in studies make keeping up to date on relevant findings difficult. In addition to well known, highly penetrant rare mutations that cause mendelian disorders related to stroke, several common genetic variants have been associated with common stroke subtypes, some of which also affect disease severity and clinical outcome. Furthermore, common genetic variations in biological pathways that have an important role in the pathophysiology of cerebrovascular diseases-such as blood pressure and oxidative phosphorylation-have been implicated in stroke. Clinical and translational applications of these and future discoveries in stroke genetics include identification of novel targets for treatment and development of personalised approaches to stroke prevention and management.
近年来，创新技术、新型分析方法以及以前难以想象的合作推动了我们对遗传变异在中风中作用的认识取得了实质性进展。然而，大量数据迅速积累，研究中使用的方法越来越复杂，使得及时了解相关发现变得困难。除了众所周知的、高度外显的导致与中风相关的孟德尔疾病的罕见突变外，几种常见的遗传变异与常见的中风亚型有关，其中一些还影响疾病的严重程度和临床结局。此外，在脑血管疾病病理生理学中具有重要作用的生物途径中的常见遗传变异，如血压和氧化磷酸化，也与中风有关。这些以及中风遗传学未来发现的临床和转化应用包括确定新的治疗靶点和开发针对中风预防和管理的个性化方法。
