Genome-wide association study of cerebral small vessel disease reveals established and novel loci

Author:

Chung Jaeyoon12,Marini Sandro12,Pera Joanna3,Norrving Bo45,Jimenez-Conde Jordi6,Roquer Jaume6,Fernandez-Cadenas Israel78,Tirschwell David L9,Selim Magdy10,Brown Devin L11,Silliman Scott L12,Worrall Bradford B13,Meschia James F14,Demel Stacie15,Greenberg Steven M16,Slowik Agnieszka3,Lindgren Arne45,Schmidt Reinhold17,Traylor Matthew18,Sargurupremraj Muralidharan19,Tiedt Steffen2021,Malik Rainer2021,Debette Stéphanie1922,Dichgans Martin202123,Langefeld Carl D24,Woo Daniel15,Rosand Jonathan1225,Anderson Christopher D1225

Affiliation:

1. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

2. Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA

3. Department of Neurology, Jagiellonian University Medical College, Krakow, Poland

4. Department of Clinical Sciences Lund, Neurology, Lund University, Lund, Sweden

5. Department of Neurology and Rehabilitation Medicine, Skåne University Hospital, Lund, Sweden

6. Department of Neurology, Neurovascular Research Unit, Institut Hospital del Mar d’Investigacions Mèdiques, Universitat Autonoma de Barcelona, Barcelona, Spain

7. Neurovascular Research Laboratory and Neurovascular Unit, Institut de Recerca, Hospital Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain

8. Stroke Pharmacogenomics and Genetics, Sant Pau Institute of Research, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain

9. Stroke Center, Harborview Medical Center, University of Washington, Seattle, WA, USA

10. Department of Neurology, Stroke Division, Beth Israel Deaconess Medical Center, Boston, MA, USA

11. Stroke Program, Department of Neurology, University of Michigan, Ann Arbor, MI, USA

12. Department of Neurology, University of Florida College of Medicine, Jacksonville, FL, USA

13. Department of Neurology and Public Health Sciences, University of Virginia Health System, Charlottesville, VA, USA

14. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

15. Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, OH, USA

16. The J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Boston, MA, USA

17. Department of Neurology, Medical University of Graz, Graz, Austria

18. Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK

19. University of Bordeaux, INSERM U1219, Bordeaux Population Health Research Center, Bordeaux, France

20. Institute for Stroke and Dementia Research, University Hospital, LMU Munich, Munich, Germany

21. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

22. Department of Neurology, Memory Clinic, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France

23. German Center for Neurodegenerative Diseases (DZNE, Munich), Munich, Germany

24. Center for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, USA

25. Department of Neurology, Massachusetts General Hospital, Boston, MA, USA

Abstract

Intracerebral haemorrhage (ICH) and small vessel ischaemic stroke (SVS) are the most severe manifestations of cerebral small vessel disease. In a cross-phenotype genome-wide association analysis, Chung et al. identify two novel associations at 2q33 and 13q34 plus a previously identified locus at 1q22 for non-lobar ICH and SVS risk.

Funder

NIH

Region Skåne, Lund University

Swedish Heart and Lung Foundation

Freemasons Lodge of Instruction Eos Lund, Skåne University Hospital

Foundation of Färs&Frosta—one

Sparbanken Skåne’s ownership Foundations

Swedish Stroke Association

Instituto de Salud Carlos III FEDER

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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