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This Research Topic is the second volume of the “Genomic Architecture of Cardiovascular Diseases”. Please see the first volume here.

Cardiovascular disease is caused by a combination of ...

This Research Topic is the second volume of the “Genomic Architecture of Cardiovascular Diseases”. Please see the first volume here.

Cardiovascular disease is caused by a combination of genetic factors and environmental factors. Several variants in the genome affect functions of genes, which changes molecular interactions or signal transduction, leading to alterations in cellular or organ functions. Environmental factors influence cellular signaling pathways, transcriptional mechanisms, and epigenomic profiles, generating changes in cell identity.

Rare cardiovascular diseases, such as cardiomyopathy and pulmonary hypertension, were mainly caused by single nucleotide variants and were considered to be monogenic pathogenesis. Integrative analysis of genotypes and clinical phenotypes have revealed the specific genotype-phenotype associations. For example, LMNA-related cardiomyopathy shows poor response to treatment and poor prognosis. Recently, some cardiomyopathies have been explained by a combination of the genetic factors (TTN truncating mutations) and the environmental factors (pregnancy, anti-cancer agents, alcohol drinking).

Common cardiovascular diseases, such as coronary artery disease and atrial fibrillation, were mainly caused by environmental factors, such as hypertension, diabetes, hyperlipidemia, and smoking. However, twin studies have revealed high heritability of these common cardiovascular diseases. Actually, genome-wide association studies (GWAS) have identified the disease-associated single-nucleotide polymorphisms (SNPs), leading to the development of polygenic risk scores to assess genetic burdens for each patient. Therefore, we have to consider a combination of genetic and environmental factors to deeply understand the pathogenesis of cardiovascular diseases. These knowledge structures will enable us to establish the fundamental basis of precision cardiovascular medicine.

The aims of the current Research Topic are:
1) To review the current knowledge about genomic architecture of rare and common cardiovascular diseases and their clinical applications.
2) To introduce innovative researches for identifying novel genomic factors for cardiovascular diseases.
3) To show cutting-edge researches elucidating disease architectures by integrating genomic information with other omics datasets (including single-cell datasets).
4) To provide a future perspective for the development of precision cardiovascular medicine, for example by combining with molecular pathology.

Keywords: #CollectionSeries, Cardiovascular disease, Genome, Omics analysis, Data integration, Precision medicine

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