Abstract
Genomic studies of cardiovascular diseases have achieved great success, not only in Mendelian genetic diseases such as hereditary arrhythmias and cardiomyopathies, but also in common diseases such as ischemic heart disease and atrial fibrillation. However, only limited success has been achieved in heart failure due to the complexity of its disease background. In this paper, we will review the genetic research for heart failure to date and discuss how we can discover new aspects of heart failure from the viewpoint of genomic perspective.
Highlights
In recent years, human genomic research has made great strides, riding the wave of big data
With the advent of genome-wide association studies (GWAS), >200 disease-susceptibility loci have been identified far in common cardiovascular diseases such as atrial fibrillation (AF) [2] and ischemic heart disease (IHD) [3], which are caused by the accumulation of weak-effect genetic polymorphisms that differ from monogenic diseases such as hereditary cardiomyopathies (Mendelian diseases)
Genomic studies of heart failure (HF) traced known clinical risk factors, and revealed a common genetic basis with various cardiomyopathies and myocarditis, because of the shared causative genes such as BAG3 and TTN. These similarities lead to the following findings. These commonalities suggest that (i) HF has a common pathway, (ii) some cardiomyopathies, which share some genetic basis with HF, develop under load and may define baseline load and stress response of the heart, and (iii) it may define the baseline morphology and function of the myocardium
Summary
Laboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. Genomic studies of cardiovascular diseases have achieved great success, in Mendelian genetic diseases such as hereditary arrhythmias and cardiomyopathies, and in common diseases such as ischemic heart disease and atrial fibrillation. Only limited success has been achieved in heart failure due to the complexity of its disease background. We will review the genetic research for heart failure to date and discuss how we can discover new aspects of heart failure from the viewpoint of genomic perspective. Edited by: Christian Schulte, University Heart and Vascular Center Hamburg (UHZ), Germany. Reviewed by: Dipender Gill, St George’s, University of London, United Kingdom Thorsten Kessler, Technical University Munich, Germany Jan Haas, Heidelberg University Hospital, Germany. Specialty section: This article was submitted to Cardiovascular Genetics and Systems
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