EXPRESS: International Stroke Genetics Consortium Recommendations for Studies of Genetics of Stroke Outcome and Recovery,International Journal of Stroke

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EXPRESS: International Stroke Genetics Consortium Recommendations for Studies of Genetics of Stroke Outcome and Recovery
International Journal of Stroke ( IF 6.3 ) Pub Date : 2021-03-19 , DOI: 10.1177/17474930211007288
Arne G Lindgren _{1,

2} , Robynne G Braun ₃ , Jennifer Juhl Majersik ₄ , Philip Clatworthy ₅ , Shraddha Mainali ₆ , Colin P Derdeyn ₇ , Jane Maguire ₈ , Christina Jern _{9,

10} , Jonathan Rosand ₁₁ , John W Cole _{12,

13} , Jin-Moo Lee ₁₄ , Pooja Khatri ₁₅ , Paul Nyquist ₁₆ , Stéphanie Debette _{17,

18} , Loo Keat Wei ₁₉ , Tatjana Rundek ₂₀ , Dana Leifer ₂₁ , Vincent Thijs ₂₂ , Robin Lemmens _{23,

24} , Laura Heitsch ₁₄ , Kameshwar Prasad ₂₅ , Jordi Jimenez Conde _{26,

27} , Martin Dichgans ₂₈ , Natalia S Rost ₁₁ , Steven C Cramer _{29,

30} , Julie Bernhardt ₂₂ , Bradford B Worrall ₃₁ , Israel Fernandez-Cadenas ₃₂ ,

Affiliation

Department of Clinical Sciences Lund, Neurology, 5193-->Lund University, Lund, Sweden.
Department of Neurology, Skåne University Hospital, Lund, Sweden.
Department of Neurology, University of Maryland, Baltimore, MD, USA.
Department of Neurology, University of Utah, Salt Lake City, UT, USA.
Department of Neurology, North Bristol NHS Trust, Bristol, UK.
Department of Neurology, 2647-->The Ohio State University, Columbus, OH, USA.
Department of Radiology, University of Iowa, Iowa City, IA, USA.
Faculty of Health, University of Technology Sydney, Ultimo, NSW, Australia.
Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Neurology Service, Baltimore Veterans Affairs Medical Center, Baltimore, MD, USA.
Department of Neurology, 12264-->University of Maryland School of Medicine, Baltimore, MD, USA.
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Department of Neurology and Rehabilitation Sciences, University of Cincinnati, Cincinnati, OH, USA.
Neurology, Anesthesiology/Critical Care Medicine, Neurosurgery, and General Internal Medicine, 1500-->Johns Hopkins School of Medicine, Baltimore, MD, USA.
Bordeaux Population Health, Inserm U1219, University of Bordeaux, Bordeaux, France.
Neurology Department, Bordeaux University Hospital, Bordeaux, France.
Department of Biological Science, Faculty of Science, Universiti Tunku Abdul Rahman, Perak, Malaysia.
Department of Neurology, 12235-->University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Neurology, Weill Cornell Medicine, New York, NY, USA.
Stroke Theme, Florey Institute of Neuroscience and Mental Health, Melbourne, Vic, Australia.
Department of Neuroscience, University of Leuven, Leuven, Belgium.
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India.
Neurology Department, Neurovascular Research Group, Institut Hospital del Mar d'Investigació Mèdica, Barcelona, Spain.
Neurology, Universitat Autònoma de Barcelona, Barcelona, Spain.
Institute for Stroke and Dementia Research, University Hospital, LMU, Munich, Germany.
Department of Neurology, UCLA, Los Angeles, CA, USA.
California Rehabilitation Institute, Los Angeles, CA, USA.
Department of Neurology, University of Virginia, Charlottesville, VA, USA.
Stroke Pharmacogenomics and Genetics Group, Sant Pau Biomedical Research Institute, Barcelona, Spain.

Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery. However, this usually requires combining data from multiple studies where consistent terminology, methodology, and data collection timelines are essential. Our group of expert stroke and rehabilitation clinicians and researchers with knowledge in genetics of stroke recovery here present recommendations for harmonizing phenotype data with focus on measures suitable for multicenter genetic studies of ischemic stroke brain injury and recovery. Our recommendations have been endorsed by the International Stroke Genetics Consortium.

中文翻译：

EXPRESS：国际中风遗传学联盟对中风结果和康复遗传学研究的建议

许多生物学机制有助于中风后的结果，包括脑损伤、炎症和修复机制。临床遗传学研究有可能发现影响人类中风恢复的生物学机制并确定干预目标。需要大样本量来检测与中风脑损伤和恢复相关的常见遗传变异。然而，这通常需要结合来自多个研究的数据，其中一致的术语、方法和数据收集时间表是必不可少的。我们的专家中风和康复临床医生和具有中风恢复遗传学知识的研究人员在这里提出了协调表型数据的建议，重点是适用于缺血性中风脑损伤和恢复的多中心遗传学研究的措施。

更新日期：2021-03-19

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