Related Experiment Video
Updated: Jun 28, 2026

A Versatile Murine Model of Subcortical White Matter Stroke for the Study of Axonal Degeneration and White Matter Neurobiology
Published on: March 17, 2016
Genetic Predisposition to Mosaic Chromosomal Loss Is Associated With Functional Outcome After Ischemic Stroke
Malin Johansson1, Annie Pedersen1, John W Cole1
1Institute of Biomedicine (M.J., A.P., C.L., T.M.S., C.J.), Sahlgrenska Academy at the University of Gothenburg; Department of Clinical Genetics and Genomics (A.P., C.L., C.J.), Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Neurology (J.W.C.), Baltimore VA Medical Center and University of Maryland School of Medicine, Baltimore, MD; Department of Clinical Sciences Lund (A.L., M.S.), Neurology, Lund University; Department of Neurology (A.L., M.S.), Skåne University Hospital, Lund and Malmö, Sweden; Faculty of Health (J.M.M.), University of Technology Sydney, Australia; Hunter Medical Research Centre (J.M.M.), Newcastle, Australia; J. Philip Kistler Stroke Research Center (N.S.R.), Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston; and Departments of Neurology and Health Evaluation Sciences (B.B.W.), University of Virginia, Charlottesville, VA.
A higher polygenic risk score for mosaic loss of chromosome Y (mLOY) is linked to poorer ischemic stroke outcomes, particularly in women. This suggests genomic instability may influence stroke recovery across sexes.
Area of Science:
- Genetics
- Neurology
- Genomic Instability
Background:
- Acquired genetic alterations may impact ischemic stroke outcomes.
- Mosaic loss of chromosome Y (mLOY) is a type of acquired genetic alteration.
Purpose of the Study:
- To investigate the association between a polygenic risk score (PRS) for mLOY and ischemic stroke outcome.
- To test if genetic predisposition to mLOY affects stroke recovery.
Main Methods:
- Utilized data from 6,165 ischemic stroke patients (Genetics of Ischemic Stroke Functional Outcome network).
- Assessed a weighted PRS for mLOY and its association with modified Rankin Scale (mRS) score at 3 months post-stroke.
- Conducted analyses on the whole sample and stratified by sex.
Main Results:
- Increased PRS for mLOY correlated with poor functional outcome (mRS >2) (OR 1.11).
- A significant association was observed in women (aOR 1.20).
- The association in men was in the same direction but not statistically significant (aOR 1.04).
Conclusions:
- Genetic variants predisposing to mLOY are associated with stroke outcome.
- The significant association in women suggests shared genomic instability mechanisms.
- Further replication and mechanistic studies are warranted.
Related Concept Videos
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
iPS Cell Differentiation
Ischemic Stroke l: Introduction
Ischemic Stroke ll: Pathophysiology

