Related Experiment Video
Updated: Mar 22, 2026
Evaluation of the Cognitive Performance of Hypertensive Patients with Silent Cerebrovascular Lesions
Published on: April 23, 2021
Genetic Associations With White Matter Hyperintensities Confer Risk of Lacunar Stroke
Matthew Traylor1, Loes C A Rutten-Jacobs2, Vincent Thijs2
1From the Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (M.T., L.C.A.R.-J., H.S.M.); Department of Medical and Molecular Genetics, King's College London, London, United Kingdom (M.T.); Laboratory of Neurobiology, Vesalius Research Center, VIB, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease, University of Leuven, Leuven, Belgium (V.T.); Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, Heidelberg, VIC, Australia (V.T.); School of Medicine and Public Health (E.G.H.) and Centre for Clinical Epidemiology and Biostatistics, Hunter Medical Research Institute and School of Medicine and Public Health (C.L.), University of Newcastle, Newcastle, NSW, Australia; Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, New Lambton Heights, NSW, Australia (E.G.H.); School of Life Science, University of Lincoln, Lincoln, United Kingdom (S.B.); Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University, Munich, Germany (R.M., M.D.); Department of Cerebrovascular Disease, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy (G.B.); Division of Clinical Neurosciences, Neuroimaging Sciences and Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom (C.S.); Stroke Prevention Research Unit, Nuffield Department of Neuroscience, University of Oxford, Oxford, United Kingdom (P.M.R.); and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (M.D.). mt628@medschl.cam.ac.uk.
Background And Purpose:
White matter hyperintensities (WMH) are increased in patients with lacunar stroke. Whether this is because of shared pathogenesis remains unknown. Using genetic data, we evaluated whether WMH-associated genetic susceptibility factors confer risk of lacunar stroke, and therefore whether they share pathogenesis.
Methods:
We used a genetic risk score approach to test whether single nucleotide polymorphisms associated with WMH in community populations were associated with magnetic resonance imaging-confirmed lacunar stroke (n=1,373), as well as cardioembolic (n=1,331) and large vessel (n=1,472) Trial of Org 10172 in Acute Stroke Treatment subtypes, against 9,053 controls. Second, we separated lacunar strokes into those with WMH (n=568) and those without (n=787) and tested for association with the risk score in these 2 groups. In addition, we evaluated whether WMH-associated single nucleotide polymorphisms are associated with lacunar stroke, or in the 2 groups.
Results:
The WMH genetic risk score was associated with lacunar stroke (odds ratio [OR; 95% confidence interval [CI]]=1.14 [1.06-1.22]; P=0.0003), in patients both with and without WMH (WMH: OR [95% CI]=1.15 [1.05-1.26]; P=0.003 and no WMH: OR [95% CI]=1.11 [1.02-1.21]; P=0.019). Conversely, the risk score was not associated with cardioembolic stroke (OR [95% CI]=1.03 [0.97-1.09]; P=0.63) or large vessel stroke (OR [95% CI]=0.99 [0.93,1.04]; P=0.39). However, none of the WMH-associated single nucleotide polymorphisms passed Bonferroni-corrected significance for association with lacunar stroke.
Conclusions:
Genetic variants that influence WMH are associated with an increased risk of lacunar stroke but not cardioembolic or large vessel stroke. Some genetic susceptibility factors seem to be shared across different radiological manifestations of small vessel disease.
More Related Videos
12:50Lesion Explorer: A Video-guided, Standardized Protocol for Accurate and Reliable MRI-derived Volumetrics in Alzheimer's Disease and Normal Elderly
Published on: April 14, 2014
08:36A Versatile Murine Model of Subcortical White Matter Stroke for the Study of Axonal Degeneration and White Matter Neurobiology
Published on: March 17, 2016
