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Personalized medicine in coronary artery disease: insights from genomic research
Sang-Hak Lee1, Dong-Jik Shin, Yangsoo Jang
1Cardiology Division, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Insights
A family history of coronary artery disease (CAD) predicts future events. Genomic studies, including genome-wide association studies, are identifying genetic markers like chromosome 9p21 to improve CAD risk prediction and personalized management.
Area of Science:
- Cardiovascular Genetics
- Genomics
- Personalized Medicine
Background:
- Family history of coronary artery disease (CAD) is a known risk factor for cardiovascular events.
- Common CAD is multifactorial, influenced by numerous genes with small effects, making traditional genetic studies challenging.
- Recent advances in genomic technologies offer new avenues for identifying CAD-associated genetic variations.
Purpose of the Study:
- To explore the role of genetics in coronary artery disease (CAD) risk.
- To highlight the utility of genomic information combined with clinical data for personalized CAD risk assessment and management.
- To discuss the potential of genetic risk scores for improving CAD prediction.
Main Methods:
- Review of prior clinical studies on family history and CAD.
- Analysis of findings from genome-wide association studies (GWAS).
- Discussion of deoxyribonucleic acid (DNA)-based information and its integration with clinical data.
Main Results:
- A specific gene marker on chromosome 9p21 has been consistently replicated in genome-wide association studies.
- Genomic data, particularly single nucleotide polymorphisms (SNPs) and haplotypes, show promise for improving CAD prediction.
- The link between CAD, inflammation, and biological pathways is increasingly recognized.
Conclusions:
- Genomic studies are crucial for understanding the complex genetic underpinnings of coronary artery disease (CAD).
- Integrating genetic risk scores with clinical data can refine personalized approaches to CAD risk assessment and management.
- Despite challenges, steady progress in CAD genetics is anticipated, paving the way for enhanced prevention and treatment strategies.
Abstract:
Prior clinical studies have demonstrated that a family history of coronary artery disease (CAD) is associated with future cardiovascular events. Although there are several Mendelian disorders that are associated with CAD, most common forms of CAD are believed to be multifactorial and the result of many genes with small individual effects. The identification of these genes and their variation would be very helpful for the prediction, prevention, and management of CAD; linkage analysis or candidate gene case-control studies have been largely unsuccessful. On the contrary, recent advances in genomic techniques have generated a large amount of deoxyribonucleic acid (DNA)-based information. The link between CAD and inflammation and biological pathways has been highlighted. In particular, several genome-wide association studies have replicated a novel gene marker on chromosome 9p21. The information gained from genomic studies, in combination with clinical data, is expected to refine personalized approaches to assess risk and guide management for CAD. Genetic risk scores derived from several functional single nucleotide polymorphisms (SNPs) or haplotypes in multiple genes may improve the prediction of CAD. Despite the complexity of CAD genetics, steady progress is expected.
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