Korean Circ J.  2009 Apr;39(4):129-137. 10.4070/kcj.2009.39.4.129.

Personalized Medicine in Coronary Artery Disease: Insights From Genomic Research

• Lee SH
• Shin DJ
• Jang Y

• KMID: 2225687
• DOI: http://doi.org/10.4070/kcj.2009.39.4.129

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.

Keyword

Coronary artery disease; Genomics; Genes; Risk; Polymorphism, single nucleotide

MeSH Terms

Aluminum Hydroxide
Carbonates
Case-Control Studies
Coronary Artery Disease
Coronary Vessels
DNA
Genome-Wide Association Study
Genomics
Haplotypes
Humans
Precision Medicine
Inflammation
Polymorphism, Single Nucleotide
Aluminum Hydroxide
Carbonates
DNA

Figure

• 

  Fig. 1 Variants with different frequencies, penetrance, and disease susceptibility. GWA: genome-wide association.

• 

  Fig. 2 Biological pathways implicated in CAD pathophysiology and examples of genes. PCSK9: proprotein convertase subtilisin/kexin 9, APOA5: apoliprotein A-V, USF1: upstream transcription factor 1, CAD: coronary artery disease, FLAP: 5'-lipoxygenase activating protein, OX40L: OX40 ligand, MEF2A: monocyte enhancer factor 2a, GP: glycoprotein, LDL: low-density lipoprotein-cholesterol, HDL: high-density lipoprotein-cholesterol, TG: triglyceride, EC: endothelial cell.

• 

  Fig. 3 Combining information from genomic, molecular, and clinical data for personalized medicine in coronary artery disease.

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