在冠状动脉疾病中进行签名识别的综合性转录和表观基因组分析:试点研究
Mario Zanfardino1, Anna D'Agostino1, Ilaria Leone1
1IRCCS SYNLAB SDN, 80143 Naples, Italy.
International journal of molecular sciences
|November 13, 2025
概括
这项研究使用多组学来发现冠状动脉疾病 (CAD) 的新分子标记物. 研究人员确定了一种基因特征和监管模式,以改善CAD风险分层.
科学领域:
- 心血管研究研究心血管研究
- 基因组学和表观基因组学
- 分子生物学分子生物学
背景情况:
- 冠状动脉疾病 (CAD) 是全球主要的死亡原因,由动脉样硬化斑块驱动.
- 尽管取得了进展,但~30%的初始CAD事件仍然是致命的,这凸显了早期检测的必要性.
- 有效的风险分层对于管理CAD患者至关重要.
研究的目的:
- 使用多omics方法识别冠状动脉疾病 (CAD) 的新型分子标记物.
- 发现潜在的生物标志物,以改善CAD患者的临床风险分层.
- 在CAD中调查基因表达和染色质可访问性模式.
主要方法:
- 周围血液单核细胞 (PBMC) 的综合转录基因 (RNA-seq) 和表观基因 (ATAC-seq) 分析.
- 来自接受心脏计算机断层扫描血管造影 (CCTA) 患者样本的分析.
- 在独立患者队列中验证关键发现.
主要成果:
- 确定了39个基因,在所有CAD亚型中始终失调.
- 在CAD相关的位置揭示了不同的染色质可访问性模式.
- 证实了关键差异表达基因 (DEGs) 的表达模式,包括Claudin 18 (CLDN18).
结论:
- 多omics数据集成确定了与CAD严重程度相关的核心基因特征.
- 发现了不同的监管模式,为临床风险分层提供了潜在的生物标志物.
- 研究结果支持使用分子标记物来增强CAD管理.
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