Ryu Chang Soo, Lee Kee-Ook, Ko Eun Ju, Park Hyeon Woo, Lee Jae Hyun, Kim Ok Joon, Kim Nam Keun
Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea.
Division of Life Sciences, College of Life Sciences, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea.
Cells. 2025 Sep 5;14(17):1389. doi: 10.3390/cells14171389.
Ischemic stroke is a multifactorial cerebrovascular disease that remains a leading cause of long-term disability and mortality worldwide. Despite advances in acute treatment, recurrence rates remain high, and nearly half of survivors experience persistent neurological deficits. Therefore, identifying genetic biomarkers that contribute to early diagnosis, risk prediction, and therapeutic improvement is increasingly important. MicroRNAs, small non-coding RNAs involved in gene regulation, have been recognized for their critical roles in vascular development and angiogenesis. This study investigated the association between angiogenesis-related miRNA gene polymorphisms and ischemic stroke risk using a population-based case-control design. Genotyping and statistical analysis revealed that rs13137 A > T and rs4636297 G > A were significantly associated with stroke susceptibility. The TT genotype of rs13137 demonstrated a protective effect ( = 0.019); the AA genotype of rs4636297 was associated with increased risk ( = 0.006), along with its dominant model ( = 0.007). Additionally, deep learning models were utilized to evaluate gene-gene and gene-environment interactions, enhancing predictive accuracy and identifying synergistic effects between miRNA polymorphisms and clinical risk factors. In summary, specific miRNA variants may serve as novel biomarkers for ischemic stroke, providing valuable insight into genetic susceptibility and supporting the advancement of precision medicine strategies.
缺血性中风是一种多因素的脑血管疾病,仍然是全球长期残疾和死亡的主要原因。尽管急性治疗取得了进展,但复发率仍然很高,近一半的幸存者存在持续的神经功能缺损。因此,识别有助于早期诊断、风险预测和治疗改善的基因生物标志物变得越来越重要。微小RNA是参与基因调控的小非编码RNA,它们在血管发育和血管生成中的关键作用已得到认可。本研究采用基于人群的病例对照设计,调查了血管生成相关微小RNA基因多态性与缺血性中风风险之间的关联。基因分型和统计分析显示,rs13137 A>T和rs4636297 G>A与中风易感性显著相关。rs13137的TT基因型显示出保护作用(P=0.019);rs4636297的AA基因型与风险增加相关(P=0.006),其显性模型也是如此(P=0.007)。此外,利用深度学习模型评估基因-基因和基因-环境相互作用,提高预测准确性,并识别微小RNA多态性与临床风险因素之间的协同效应。总之,特定的微小RNA变体可能作为缺血性中风的新型生物标志物,为遗传易感性提供有价值的见解,并支持精准医学策略的发展。