Journal of Cardiovascular Translational Research

, Volume 8, Issue 9, pp 506–527

Linking Genes to Cardiovascular Diseases: Gene Action and Gene–Environment Interactions


DOI: 10.1007/s12265-015-9658-9

Cite this article as:
Pasipoularides, A. J. of Cardiovasc. Trans. Res. (2015) 8: 506. doi:10.1007/s12265-015-9658-9


A unique myocardial characteristic is its ability to grow/remodel in order to adapt; this is determined partly by genes and partly by the environment and the milieu intérieur. In the “post-genomic” era, a need is emerging to elucidate the physiologic functions of myocardial genes, as well as potential adaptive and maladaptive modulations induced by environmental/epigenetic factors. Genome sequencing and analysis advances have become exponential lately, with escalation of our knowledge concerning sometimes controversial genetic underpinnings of cardiovascular diseases. Current technologies can identify candidate genes variously involved in diverse normal/abnormal morphomechanical phenotypes, and offer insights into multiple genetic factors implicated in complex cardiovascular syndromes. The expression profiles of thousands of genes are regularly ascertained under diverse conditions. Global analyses of gene expression levels are useful for cataloging genes and correlated phenotypes, and for elucidating the role of genes in maladies. Comparative expression of gene networks coupled to complex disorders can contribute insights as to how “modifier genes” influence the expressed phenotypes. Increasingly, a more comprehensive and detailed systematic understanding of genetic abnormalities underlying, for example, various genetic cardiomyopathies is emerging. Implementing genomic findings in cardiology practice may well lead directly to better diagnosing and therapeutics. There is currently evolving a strong appreciation for the value of studying gene anomalies, and doing so in a non-disjointed, cohesive manner. However, it is challenging for many—practitioners and investigators—to comprehend, interpret, and utilize the clinically increasingly accessible and affordable cardiovascular genomics studies. This survey addresses the need for fundamental understanding in this vital area.


Genotype and expressed phenotypes Exons, introns, and alternative splicing Monogenic and polygenic traits and gene networks Major gene, “modifier genes,” and pleiotropy Regulatory DNA “switches” and regulation of gene expression Gene interactions and epistasis Genetic cardiomyopathies, HCM, DCM Environmental influences and epigenetics Mutations and haplotypes 

Supplementary material

12265_2015_9658_MOESM1_ESM.docx (22 kb)
Glossary, ESM(DOCX 21 kb)
12265_2015_9658_MOESM2_ESM.docx (12 kb)
Supplementary Table 1(DOCX 12 kb)

Funding information

Funder NameGrant NumberFunding Note
National Heart, Lung, and Blood Institute (US)
  • R01 HL 050446
National Science Foundation (US)
  • CDR 8622201

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Duke University School of MedicineDurhamUSA
  2. 2.Duke/NSF Research Center for Emerging Cardiovascular TechnologiesDurhamUSA
  3. 3.Department of SurgeryDuke University School of MedicineDurhamUSA

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