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Review

Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic Perspective

1
School of Medical Imaging, Xuzhou Medical University, No. 209 Tongshan Road, Xuzhou 221004, China
2
Medical and Information College, Xuzhou Medical University, No. 209 Tongshan Road, Xuzhou 221004, China
3
Department of Surgery, University of Pittsburgh, Pittsburgh, PA 15260, USA
4
Greenwich Hospital, Yale New Haven Health, Greenwich, CT 06519, USA
5
Department of Internal Medicine, Montefiore Medical Center Wakefield Campus, 600 East 233rd Street, Bronx, NY 10466, USA
6
Department of Radiology, Ohio State University, Columbus, OH 43210, USA
7
Department of Clinical Medicine, The First Clinical Medical College, Norman Bethune University of Medical Sciences, Jilin 130021, China
8
Department of Integrative Biology and Pharmacology, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA
9
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Genes 2025, 16(1), 98; https://doi.org/10.3390/genes16010098
Submission received: 5 December 2024 / Revised: 31 December 2024 / Accepted: 15 January 2025 / Published: 18 January 2025
(This article belongs to the Special Issue Genomic Approaches for Disease Diagnosis and Prognosis)

Abstract

Objective: 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. Methods: 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. Results: GWASs and sequencing studies have identified key genetic variations associated with CAD, including JCAD/KIAA1462, GUCY1A3, PCSK9, and SORT1, 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. Conclusions: 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.
Keywords: coronary atherosclerosis; genomics; gene markers; genome-wide association study; transcriptomics; epigenomics; precision medicine; early diagnosis coronary atherosclerosis; genomics; gene markers; genome-wide association study; transcriptomics; epigenomics; precision medicine; early diagnosis
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MDPI and ACS Style

Liu, H.; Zhang, Y.; Zhao, Y.; Li, Y.; Zhang, X.; Bao, L.; Yan, R.; Yang, Y.; Zhou, H.; Zhang, J.; et al. Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic Perspective. Genes 2025, 16, 98. https://doi.org/10.3390/genes16010098

AMA Style

Liu H, Zhang Y, Zhao Y, Li Y, Zhang X, Bao L, Yan R, Yang Y, Zhou H, Zhang J, et al. Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic Perspective. Genes. 2025; 16(1):98. https://doi.org/10.3390/genes16010098

Chicago/Turabian Style

Liu, Hanxiang, Yuchen Zhang, Yueyan Zhao, Yuzhen Li, Xiaofeng Zhang, Lingyu Bao, Rongkai Yan, Yixin Yang, Huixian Zhou, Jinming Zhang, and et al. 2025. "Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic Perspective" Genes 16, no. 1: 98. https://doi.org/10.3390/genes16010098

APA Style

Liu, H., Zhang, Y., Zhao, Y., Li, Y., Zhang, X., Bao, L., Yan, R., Yang, Y., Zhou, H., Zhang, J., & Song, S. (2025). Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic Perspective. Genes, 16(1), 98. https://doi.org/10.3390/genes16010098

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