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Genetic Imbalance Is Associated With Functional Outcome After Ischemic Stroke
Dorothea Pfeiffer1, Bowang Chen2, Kristina Schlicht3
1From the Department of Neurology, Heidelberg University Hospital, Germany (D.P., T.B., E.H., M. Kloss, I.W., C.G.-G.).
Stroke
|January 22, 2019
Summary
Genetic imbalance, indicated by copy number variations, is linked to poorer functional outcomes following ischemic stroke (IS). This association is particularly strong when dose-sensitive ohnolog genes are affected, suggesting a causal role in stroke recovery.
Area of Science:
- Genetics
- Neurology
- Stroke Research
Background:
- Ischemic stroke (IS) significantly impacts functional recovery.
- Genetic factors play a role in stroke outcomes.
- Understanding genetic influences can improve patient prognoses.
Purpose of the Study:
- To investigate the association between genetic imbalance and functional outcome after ischemic stroke.
- To determine if specific gene types, like ohnologs, mediate this association.
Main Methods:
- Analysis of copy number variations (CNVs) in high-density SNP microarray data from IS patients (CADISP and SiGN/GISCOME networks).
- Comparison of genetic imbalance (total protein-coding genes affected by CNVs) between patients with favorable (mRS 0-2) and unfavorable (mRS ≥3) outcomes at 3 months.
- Logistic regression analysis adjusted for clinical covariates, with subgroup analyses for CNVs affecting ohnologs versus non-ohnologs.
Main Results:
- Increased genetic imbalance was significantly associated with poorer functional outcome in both patient cohorts (CADISP and SiGN/GISCOME).
- The association remained significant after adjusting for age, sex, stroke severity, subtype, and ancestry.
- Subgroup analysis revealed that genetic imbalance affecting ohnologs was strongly associated with outcome, while imbalance not affecting ohnologs showed no significant association.
Conclusions:
- Elevated genetic imbalance is a predictor of worse functional recovery after ischemic stroke.
- The presence of ohnologs within CNVs appears to drive this association, suggesting a causal link.
- These findings highlight the critical role of dose-sensitive genes in stroke outcomes and recovery.
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