Stroke and Dementia Research Centre, St, Georges University of London, London, UK.
BMC Med. 2012 Sep 27;10:113. doi: 10.1186/1741-7015-10-113.
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke genes. The current findings are consistent with different stroke subtypes having different genetic architecture. These discoveries may identify novel pathways involved in stroke pathogenesis, and suggest new treatment approaches. However, the already identified genetic variants explain only a small proportion of overall stroke risk, and therefore are not currently useful in predicting risk for the individual patient. Such risk prediction may become a reality as identification of a greater number of stroke risk variants that explain the majority of genetic risk proceeds, and perhaps when information on rare variants, identified by whole-genome sequencing, is also incorporated into risk algorithms. Pharmacogenomics may offer the potential for earlier implementation of 'personalized genetic' medicine. Genetic variants affecting clopidogrel and warfarin metabolism may identify non-responders and reduce side-effects, but these approaches have not yet been widely adopted in clinical practice.
流行病学证据支持中风存在遗传易感性。最近的进展，主要采用全基因组关联研究方法，正在改变我们对多因素中风遗传的认识，并确定新的中风基因。目前的研究结果与不同的中风亚型具有不同的遗传结构一致。这些发现可能确定中风发病机制中涉及的新途径，并提出新的治疗方法。然而，已经确定的遗传变异仅解释了整体中风风险的一小部分，因此目前对于个体患者的风险预测并不实用。随着更多的中风风险变异体的鉴定，这些变异体可以解释大部分遗传风险，并且当全基因组测序所确定的罕见变异体的信息也被纳入风险算法中时，这种风险预测可能会成为现实。药物基因组学可能为“个性化基因”医学的早期实施提供潜力。影响氯吡格雷和华法林代谢的遗传变异可以识别无反应者并减少副作用，但这些方法尚未在临床实践中广泛采用。
