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Published on: February 20, 2019
Research Progress and Clinical Translation Potential of Coronary Atherosclerosis Diagnostic Markers from a Genomic
Hanxiang Liu1, Yuchen Zhang1, Yueyan Zhao2
1School of Medical Imaging, Xuzhou Medical University, No. 209 Tongshan Road, Xuzhou 221004, China.
Insights
Recent genetic research identifies key markers for coronary artery disease (CAD), offering potential for early diagnosis and risk assessment in precision medicine. Clinical use requires standardized guidelines and further validation.
Area of Science:
- Genomics
- Cardiovascular Medicine
- Precision Medicine
Background:
- Coronary atherosclerosis (CAD) involves arterial wall thickening and lumen narrowing, leading to heart disease and acute coronary syndrome.
- CAD is a polygenic and multifactorial condition, with genetic studies offering insights into early diagnosis and risk assessment.
- Understanding genetic markers is crucial for advancing CAD management and patient outcomes.
Purpose of the Study:
- To review recent advances in genetic markers associated with coronary artery disease (CAD).
- To evaluate the diagnostic and risk stratification potential of these genetic markers within precision medicine.
- To analyze the application of genomic, transcriptomic, and epigenomic findings in CAD diagnosis.
Main Methods:
- Systematic review of genomic studies on CAD from PubMed and Web of Science.
- Analysis of findings from genome-wide association studies (GWASs), gene sequencing, transcriptomics, and epigenomics.
- Identification of key genetic variations and molecular signatures related to CAD pathogenesis.
Main Results:
- GWASs and sequencing identified significant CAD-associated genetic variations (e.g., JCAD/KIAA1462, GUCY1A3, PCSK9, SORT1) impacting inflammation, lipid metabolism, and vascular function.
- Transcriptomic and epigenomic analyses revealed disease-specific gene expression patterns, DNA methylation, and regulatory RNAs (miRNAs, lncRNAs) for early detection.
- These genetic and molecular findings provide novel avenues for understanding and diagnosing CAD.
Conclusions:
- Significant progress has been made in identifying genetic markers for CAD.
- Clinical implementation faces challenges including marker variability, lack of standardization, and integration with existing diagnostics.
- Future research should focus on standardization, large-scale prospective studies, and multi-omics integration for genomic diagnostics in CAD and precision medicine.
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.
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