| Abstract [eng] |
Stroke remains one of the leading causes of mortality and long term disability worldwide. Although usually associated with adjustable vascular risk factors, increasing evidence shows that genetic factors also show an important role in stroke susceptibility, classification, and treatment response. This review intended to examine the current understanding of stroke genetics and its application to clinical practice. A narrative literature review was accompanied using PubMed, Scopus, Web of Science, and Embase databases, covering publications from mostly 2010 to 2025. A total of 512 records were identified, of which 45 studies were included after screening based on predefined criteria. The findings indicate that stroke is a heterogeneous condition influenced by both monogenic and polygenic mechanisms. Rare hereditary disorders such as CADASIL and CARASIL provide insight into small-vessel disease, while genome-wide association studies have identified multiple loci associated with different stroke subtypes. Polygenic risk scores show potential for improving risk prediction, although their clinical application remains limited. Pharmacogenomic evidence, particularly related to CYP2C19 and antiplatelet therapy, demonstrates more immediate relevance for clinical decision-making. In conclusion, genetic research has improved the understanding of stroke pathophysiology and may contribute to more individualised approaches to prevention and treatment. However, its integration into routine clinical practice remains incomplete and depends on improved clinician education, infrastructure, and appropriate ethical and regulatory frameworks. |
