Abstract
Cardiovascular diseases are the leading cause of death around the world. Despite the larger number of genes and loci identified, the precise mechanisms by which these genes influence risk of cardiovascular disease is not well understood. Recent advances in the development and optimization of high-throughput technologies for the generation of “omics data” have provided a deeper understanding of the processes and dynamic interactions involved in human diseases. However, the integrative analysis of “omics” data is not straightforward and represents several logistic and computational challenges. In spite of these difficulties, several studies have successfully applied integrative genomics approaches for the investigation of novel mechanisms and plasma biomarkers involved in cardiovascular diseases. In this review, we summarized recent studies aimed to understand the molecular framework of these diseases using multi-omics data from mice and humans. We discuss examples of omics studies for cardiovascular diseases focused on the integration of genomics, epigenomics, transcriptomics, and proteomics. This review also describes current gaps in the study of complex diseases using systems genetics approaches as well as potential limitations and future directions of this emerging field.
Highlights
Coronary artery disease (CAD) is the most common cause of cardiovascular death [1]
We summarize the state-of-the-art of multi-omics studies conducted in mice and humans to understand the molecular mechanisms underlying cardiovascular diseases including CAD [35,36,37,38,39,40,41,42,43,44,45,46,47], stroke [42, 48], heart failure [13, 49, 50], cardiac hypertrophy [13, 51], aortic valve disease [52, 53], and heart regeneration [54]
A recent study showed that ANRIL (DQ485454) is involved in endothelial cells functions important to the development of CAD including monocyte adhesion to endothelial cells, trans-endothelial monocyte migration, and endothelial cell migration [71]. Another example is the investigation of the region of the gene cluster CELSR2-PSRC1-MYBPHL-SORT at the 1p13.3 locus associated with low-density lipoprotein cholesterol (LDL-C) levels and cardiovascular risk [55, 72, 73]
Summary
Coronary artery disease (CAD) is the most common cause of cardiovascular death [1]. Studies conducted in twins [2, 3] and in the general population have estimated a heritability of CAD at ∼40–50% [4]. GWAS studies have been successful on identifying common DNA variation implicated in cardiovascular diseases, they provide little or no molecular evidence of gene causality In this context, the premise that rare genetic variation could have stronger functional effects on disease manifestation still is arguable [19]. A recent study showed that ANRIL (DQ485454) is involved in endothelial cells functions important to the development of CAD including monocyte adhesion to endothelial cells, trans-endothelial monocyte migration, and endothelial cell migration [71] Another example is the investigation of the region of the gene cluster CELSR2-PSRC1-MYBPHL-SORT at the 1p13.3 locus associated with low-density lipoprotein cholesterol (LDL-C) levels and cardiovascular risk [55, 72, 73]. This may be due to the costs and the highly specialized expertise required for instrument operation, data acquisition, Frontiers in Cardiovascular Medicine | www.frontiersin.org
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