GISCOME - 缺血性中风功能结局的遗传学网络：一项国际多中心基因关联研究方案
GISCOME - Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study.
作者信息
Maguire Jane M, Bevan Steve, Stanne Tara M, Lorenzen Erik, Fernandez-Cadenas Israel, Hankey Graeme J, Jimenez-Conde Jordi, Jood Katarina, Lee Jin-Moo, Lemmens Robin, Levi Christopher, Norrving Bo, Rannikmae Kristiina, Rost Natalia, Rosand Jonathan, Rothwell Peter M, Scott Rodney, Strbian Daniel, Sturm Jonathan, Sudlow Cathie, Traylor Matthew, Thijs Vincent, Tatlisumak Turgut, Wieloch Tadeusz, Woo Daniel, Worrall Bradford B, Jern Christina, Lindgren Arne
机构信息
Faculty of Health, University of Technology, Australia.
Hunter Medical Research Institute, University of Newcastle, Australia.
出版信息
Eur Stroke J. 2017 Sep;2(3):229-237. doi: 10.1177/2396987317704547. Epub 2017 Apr 19.
INTRODUCTION
Genome-wide association studies have identified several novel genetic loci associated with stroke risk, but how genetic factors influence stroke outcome is less studied. The Genetics of Ischaemic Stroke Functional outcome network aims at performing genetic studies of stroke outcome. We here describe the study protocol and methods basis of Genetics of Ischaemic Stroke Functional outcome.
METHODS
The Genetics of Ischaemic Stroke Functional outcome network has assembled patients from 12 ischaemic stroke projects with genome-wide genotypic and outcome data from the International Stroke Genetics Consortium and the National Institute of Neurological Diseases Stroke Genetics Network initiatives. We have assessed the availability of baseline variables, outcome metrics and time-points for collection of outcome data.
RESULTS
We have collected 8831 ischaemic stroke cases with genotypic and outcome data. Modified Rankin score was the outcome metric most readily available. We detected heterogeneity between cohorts for age and initial stroke severity (according to the NIH Stroke Scale), and will take this into account in analyses. We intend to conduct a first phase genome-wide association outcome study on ischaemic stroke cases with data on initial stroke severity and modified Rankin score within 60-190 days. To date, we have assembled 5762 such cases and are currently seeking additional cases meeting these criteria for second phase analyses.
CONCLUSION
Genetics of Ischaemic Stroke Functional outcome is a unique collection of ischaemic stroke cases with detailed genetic and outcome data providing an opportunity for discovery of genetic loci influencing functional outcome. Genetics of Ischaemic Stroke Functional outcome will serve as an exploratory study where the results as well as the methodological observations will provide a basis for future studies on functional outcome. Genetics of Ischaemic Stroke Functional outcome can also be used for candidate gene replication or assessing stroke outcome non-genetic association hypotheses.
简介
全基因组关联研究已确定了几个与中风风险相关的新基因位点，但遗传因素如何影响中风预后的研究较少。缺血性中风功能预后遗传学网络旨在开展中风预后的遗传研究。我们在此描述缺血性中风功能预后遗传学的研究方案和方法基础。
方法
缺血性中风功能预后遗传学网络汇集了来自12个缺血性中风项目的患者，这些患者具有来自国际中风遗传学联盟和美国国立神经疾病与中风研究所遗传学网络计划的全基因组基因型和预后数据。我们评估了基线变量、预后指标以及收集预后数据的时间点的可用性。
结果
我们收集了8831例具有基因型和预后数据的缺血性中风病例。改良Rankin量表评分是最容易获得的预后指标。我们检测到各队列在年龄和初始中风严重程度（根据美国国立卫生研究院中风量表）方面存在异质性，并将在分析中予以考虑。我们打算对发病60 - 190天内具有初始中风严重程度数据和改良Rankin量表评分的缺血性中风病例进行第一阶段全基因组关联预后研究。迄今为止，我们已汇集了5762例此类病例，目前正在寻找符合这些标准的其他病例以进行第二阶段分析。
结论
缺血性中风功能预后遗传学是一个独特的缺血性中风病例集合，具有详细的遗传和预后数据，为发现影响功能预后的基因位点提供了机会。缺血性中风功能预后遗传学将作为一项探索性研究，其结果以及方法学观察将为未来关于功能预后的研究提供基础。缺血性中风功能预后遗传学还可用于候选基因复制或评估中风预后的非遗传关联假说。
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