Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond.

IF 2.3 4区医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

Journal of Cardiovascular Development and Disease Pub Date : 2025-07-23 DOI:10.3390/jcdd12080281

Ana Jagodic, Dorotea Zivalj, Antea Krsek, Lara Baticic

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Abstract

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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缺血性中风的遗传结构：来自全基因组关联研究及其他方面的见解。

缺血性中风是一种复杂的、多因素的疾病，具有显著的遗传成分。全基因组关联研究（GWASs）的最新进展已经确定了几种与临床结果、卒中亚型和总体风险相关的常见变异。与血管完整性、脂质代谢、炎症和动脉粥样硬化相关的生物学途径相关的关键基因座包括9p21 （ANRIL）、HDAC9、SORT1和PITX2。尽管多基因风险评分（PRSs）有望用于早期风险预测和分层，但其临床应用仍然受到欧洲中心偏见和遗传缺失的限制。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，增强了我们对中风病理生理学的理解，并为精准医学铺平了道路。这篇综述总结了目前缺血性中风的遗传格局，强调了不断发展的方法如何影响其预防、诊断和治疗。

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来源期刊

Journal of Cardiovascular Development and Disease CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.60

自引率

12.50%

发文量

381