Faculty of Medicine, University of Surabaya, Surabaya 60292, Indonesia.
Faculty of Medicine, Universitas Sumatera Utara, Medan 20155, Indonesia.
Clin Chim Acta. 2023 Sep 1;549:117527. doi: 10.1016/j.cca.2023.117527. Epub 2023 Sep 4.
The increasing incidence of ischemic stroke emphasizes the necessity for early detection and preventive strategies. Diagnostic biomarkers currently available for ischemic stroke only become detectable shortly before the manifestation of stroke symptoms. Genetic variants associated with ischemic stroke offer a potential solution to address this diagnostic limitation. However, it is crucial to acknowledge that genetic variants cannot be modified in the same way as epigenetic changes. Nevertheless, individuals carrying risk or protective variants can modify their lifestyle to potentially influence the associated epigenetic factors. This study aims to summarize specific variants relevant to Asian populations that may aid in the early detection of ischemic stroke and explore their impact on the disease's pathophysiology. These variants give us important information about the genes that play a role in ischemic stroke by affecting things like atherosclerosis pathway, blood coagulation pathway, homocysteine metabolism, transporter function, transcription, and the activity of neurons regulation. It is important to recognize the variations in genetic variants among different ethnicities and avoid generalizing the pathogenesis of ischemic stroke.
缺血性中风发病率的增加强调了早期检测和预防策略的必要性。目前可用于缺血性中风的诊断生物标志物仅在中风症状出现前不久才变得可检测。与缺血性中风相关的遗传变异为解决这一诊断局限性提供了一个潜在的解决方案。然而，必须认识到，遗传变异不能像表观遗传变化那样被修饰。尽管如此，携带风险或保护变异的个体可以改变他们的生活方式，以潜在地影响相关的表观遗传因素。本研究旨在总结与亚洲人群相关的特定变异，这些变异可能有助于缺血性中风的早期检测，并探讨它们对疾病病理生理学的影响。这些变异通过影响动脉粥样硬化途径、血液凝固途径、同型半胱氨酸代谢、转运体功能、转录和神经元调节活性等方面，为我们提供了与缺血性中风相关的基因的重要信息。重要的是要认识到不同种族之间遗传变异的差异，并避免将缺血性中风的发病机制普遍化。
