Key result
Stroke polygenic risk scores reveal key loci but remain limited by ancestral bias and missing heritability.
This review highlights the evolving understanding of the genetic architecture of ischemic stroke, emphasizing the potential of multiomics to advance precision medicine despite current limitations in polygenic risk scores.
Ischemic stroke is a complex, multifactorial disorder with a significant heritable component. Recent developments in genome-wide association studies (GWASs) have identified several common variants associated with clinical outcomes, stroke subtypes, and overall risk. Key loci implicated in biological pathways related to vascular integrity, lipid metabolism, inflammation, and atherogenesis include 9p21 (ANRIL), HDAC9, SORT1, and PITX2. Although polygenic risk scores (PRSs) hold promise for early risk prediction and stratification, their clinical utility remains limited by Eurocentric bias and missing heritability. Integrating multiomics approaches, such as functional genomics, transcriptomics, and epigenomics, enhances our understanding of stroke pathophysiology and paves the way for precision medicine. This review summarizes the current genetic landscape of ischemic stroke, emphasizing how evolving methodologies are shaping its prevention, diagnosis, and treatment.
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Jagodic et al. (2025) conducted a review in Ischemic stroke. Genetic variants was evaluated. Genome-wide association studies have identified key genetic loci associated with ischemic stroke risk, though polygenic risk scores are currently limited by Eurocentric bias and missing heritability.
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