A Genetic Perspective on Ischemic Stroke: Recent Advances and Future Directions

Objective. This narrative review aimed to explore the multifaceted nature of ischemic stroke (IS) and its underlying genetic factors, emphasize the role of genetics in early detection and prevention, and acknowledge the complex influences on stroke prevalence across various countries. Methods. An extensive overview of the causes, mechanisms, and genetics of IS was conducted by reviewing several studies and recent findings. The role of specific genes in monogenic stroke disorders, implications of polygenic influences, recent advances in genetic evaluation, and methods for early IS detection were synthesized and discussed. Results. IS was influenced by genetics, underlying medical conditions, and lifestyle. Specific genes, including NOTCH3, HTRA1, COL3A1, and mtDNA, are involved in monogenic stroke syndromes and predominantly affect younger populations. Polygenic disorders, studied using genome-wide association study and sequencing techniques, play a prominent role in susceptibility to IS. Genetic evaluation has become instrumental in risk prediction, influencing clinical practices and potential therapeutic interventions. Early detection methods, such as enhanced imaging techniques and blood biomarkers, are crucial for managing IS outcomes. Conclusion. Ischemic stroke is a complex disorder with a significant global impact. Understanding its genetic basis promises to improve early detection and effectively establish preventative measures. Although genetic evaluation and innovative detection techniques offer promise, focusing on lifestyle modifications and managing underlying health conditions remains paramount for reducing the incidence and severity of IS. Continuous research and technological advancements are essential for developing personalized medical approaches and improving global healthcare strategies.