Molecular Genetics of Cardiovascular Disease


Cardiovascular disease is a leading cause of mortality and morbidity worldwide. The presence of significant familial clustering of cardiovascular disease suggests a genetic component in addition to lifestyle and environmental factors in its aetiology. It is this subtle interplay between environment and genes that has made the study of cardiovascular disease at the molecular level very challenging. The polygenic multifactorial basis of cardiovascular traits requires collaborative efforts within the cardiovascular disease community not only to understand the genetic underpinnings of the phenotype but also to translate discoveries into clinically useful applications that will have a major impact on public health.

Key Concepts:

  • Familial clustering and heritability has provided evidence for the existence of a genetic component for CAD.

  • The success of finding susceptibility genes will be dependent on the genetic architecture of CAD.

  • Phenotype definition of a complex disorder and its importance in genetic studies.

  • Genomic approaches to the dissection of cardiovascular disease have included candidate gene studies, genome‐wide association studies and linkage studies.

  • The role of microRNA and its role in cardiovascular pathology.

  • ‘Omic approaches’ to cardiovascular disease and the need to integrate each of the omic discliplines in elucidating both the genetic and proteomic factors involved in CVD.

Keywords: coronary heart disease; myocardial infarction; genome‐wide association; single nucleotide polymorphisms; linkage; resequencing; microarray; heritability; microRNA; proteomics

Figure 1.

‘Omic approaches’ to cardiovascular disease. Dissecting the polygenic causation of cardiovascular disease will require the integration of omic strategies ranging from genome‐wide association, genome‐wide expression profiling and the measurement of biomarkers (proteins and metabolites). Array‐based methods support a range of applications such as whole genome genotyping, gene expression and copy number variation (CNV) analysis. The multifunctionality of next generation sequencing platforms allows not only sequencing but sequence‐based transcriptome analysis, DNA–protein interaction analysis and small RNA discovery and analysis. The use of such technologies will lead to the development of preventative treatment, drug therapies and pharmacogenomics.



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Lee, Wai Kwong, Padmanabhan, Sandosh, and Dominiczak, Anna F(Sep 2010) Molecular Genetics of Cardiovascular Disease. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0022427]