Jagodic Ana, Zivalj Dorotea, Krsek Antea, Baticic Lara
Department of Family Medicine, Community Health Center Krapina, 49000 Krapina, Croatia.
Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.
J Cardiovasc Dev Dis. 2025 Jul 23;12(8):281. doi: 10.3390/jcdd12080281.
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 (), , , and . 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.
缺血性中风是一种复杂的多因素疾病，具有显著的遗传成分。全基因组关联研究（GWAS）的最新进展已经确定了几个与临床结局、中风亚型和总体风险相关的常见变异。涉及血管完整性、脂质代谢、炎症和动脉粥样硬化发生的生物途径中的关键基因座包括9p21（）、、、和。尽管多基因风险评分（PRS）在早期风险预测和分层方面具有前景，但其临床应用仍然受到以欧洲为中心的偏差和遗传力缺失的限制。整合多组学方法，如功能基因组学、转录组学和表观基因组学，可增强我们对中风病理生理学的理解，并为精准医学铺平道路。本综述总结了缺血性中风当前的遗传状况，强调了不断发展的方法如何塑造其预防、诊断和治疗。
