Related Experiment Video
Updated: Jul 23, 2025

Three-dimensional Confocal Analysis of Microglia/macrophage Markers of Polarization in Experimental Brain Injury
Published on: September 4, 2013
Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
Malin Dorvall1, Annie Pedersen1,2, Jan P Dumanski3,4
1Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Sweden (M.D., A.P., T.M.S., C.J.).
Insights
Mosaic loss of chromosome Y (LOY) is linked to worse outcomes after ischemic stroke in men not receiving recanalization therapy. This finding highlights LOY as a potential prognostic factor in stroke recovery.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Science
Background:
- Mosaic loss of chromosome Y (LOY) is implicated in cardiovascular and neurodegenerative diseases.
- Genetic predisposition to LOY correlates with adverse outcomes post-stroke.
Purpose of the Study:
- To investigate the association between mosaic loss of chromosome Y (LOY) and functional outcomes in male patients following ischemic stroke.
Main Methods:
- Binary logistic regression analysis was employed on data from two male ischemic stroke cohorts (SAHLSIS2 and LSR).
- Mosaic loss of chromosome Y (LOY) was determined using DNA microarray intensity data.
- Functional outcome was assessed using the modified Rankin Scale at 3 months post-stroke.
Main Results:
- Univariable analyses revealed a 2.5-fold increased risk of poor functional outcome associated with LOY (P<0.001).
- The association persisted after adjusting for stroke severity and diabetes, but not age.
- In sensitivity analyses excluding recanalization therapy, LOY remained significantly associated with poor outcome (OR 1.6; 95% CI, 1.1-2.5).
Conclusions:
- An association exists between mosaic loss of chromosome Y (LOY) and poorer functional outcomes in ischemic stroke patients who did not undergo recanalization therapy.
- Further research into LOY and other somatic genetic alterations in larger stroke cohorts is recommended.
Background:
Mosaic loss of chromosome Y (LOY) is associated with cardiovascular and neurodegenerative diseases in men, and genetic predisposition to LOY is associated with poor poststroke outcome. We, therefore, tested the hypothesis that LOY itself is associated with functional outcome after ischemic stroke.
Methods:
The study comprised male patients with ischemic stroke from the cohort studies SAHLSIS2 (Sahlgrenska Academy Study on Ischemic Stroke Phase 2; n=588) and LSR (Lund Stroke Register; n=735). We used binary logistic regression to analyze associations between LOY, determined by DNA microarray intensity data, and poor 3-month functional outcome (modified Rankin Scale score, >2) in each cohort separately and combined. Patients who received recanalization therapy were excluded from sensitivity analyses.
Results:
LOY was associated with about 2.5-fold increased risk of poor outcome in univariable analyses (P<0.001). This association withstood separate adjustment for stroke severity and diabetes in both cohorts but not age. In sensitivity analyses restricted to the nonrecanalization group (n=987 in the combined cohort), the association was significant also after separate adjustment for age (odds ratio, 1.6 [95% CI, 1.1-2.4]) and when additionally adjusting for stroke severity and diabetes (odds ratio, 1.6 [95% CI, 1.1-2.5]).
Conclusions:
We observed an association between LOY and poor outcome after ischemic stroke in patients not receiving recanalization therapy. Future studies on LOY and other somatic genetic alterations in larger stroke cohorts are warranted.

