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.).

Stroke
|July 19, 2023
PubMed

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.
Abstract