Liu Hanxiang, Zhang Yuchen, Zhao Yueyan, Li Yuzhen, Zhang Xiaofeng, Bao Lingyu, Yan Rongkai, Yang Yixin, Zhou Huixian, Zhang Jinming, Song Siyuan
School of Medical Imaging, Xuzhou Medical University, No. 209 Tongshan Road, Xuzhou 221004, China.
Medical and Information College, Xuzhou Medical University, No. 209 Tongshan Road, Xuzhou 221004, China.
Genes (Basel). 2025 Jan 18;16(1):98. doi: 10.3390/genes16010098.
Coronary atherosclerosis (CAD) is characterized by arterial intima lipid deposition, chronic inflammation, and fibrous tissue proliferation, leading to arterial wall thickening and lumen narrowing. As the primary cause of coronary heart disease and acute coronary syndrome, CAD significantly impacts global health. Recent genetic studies have demonstrated CAD's polygenic and multifactorial nature, providing molecular insights for early diagnosis and risk assessment. This review analyzes recent advances in CAD-related genetic markers and evaluates their diagnostic potential, focusing on their applications in diagnosis and risk stratification within precision medicine. We conducted a systematic review of CAD genomic studies from PubMed and Web of Science databases, analyzing findings from genome-wide association studies (GWASs), gene sequencing, transcriptomics, and epigenomics research. GWASs and sequencing studies have identified key genetic variations associated with CAD, including , , , and , which regulate inflammation, lipid metabolism, and vascular function. Transcriptomic and epigenomic analyses have revealed disease-specific gene expression patterns, DNA methylation signatures, and regulatory non-coding RNAs (miRNAs and lncRNAs), providing new approaches for early detection. While genetic marker research in CAD has advanced significantly, clinical implementation faces challenges including marker dynamics, a lack of standardization, and integration with conventional diagnostics. Future research should prioritize developing standardized guidelines, conducting large-scale prospective studies, and enhancing multi-omics data integration to advance genomic diagnostics in CAD, ultimately improving patient outcomes through precision medicine.
冠状动脉粥样硬化（CAD）的特征是动脉内膜脂质沉积、慢性炎症和纤维组织增生，导致动脉壁增厚和管腔狭窄。作为冠心病和急性冠状动脉综合征的主要原因，CAD对全球健康有重大影响。最近的基因研究表明CAD具有多基因和多因素性质，为早期诊断和风险评估提供了分子见解。本综述分析了CAD相关基因标志物的最新进展，并评估了它们的诊断潜力，重点关注它们在精准医学中的诊断和风险分层应用。我们对来自PubMed和Web of Science数据库的CAD基因组研究进行了系统综述，分析了全基因组关联研究（GWAS）、基因测序、转录组学和表观基因组学研究的结果。GWAS和测序研究已经确定了与CAD相关的关键基因变异，包括 、 、 和 ，它们调节炎症、脂质代谢和血管功能。转录组学和表观基因组学分析揭示了疾病特异性的基因表达模式、DNA甲基化特征和调节性非编码RNA（miRNA和lncRNA），为早期检测提供了新方法。虽然CAD的基因标志物研究取得了显著进展，但临床应用面临着包括标志物动态变化、缺乏标准化以及与传统诊断方法整合等挑战。未来的研究应优先制定标准化指南、开展大规模前瞻性研究并加强多组学数据整合，以推进CAD的基因组诊断，最终通过精准医学改善患者预后。
