Special Issue "Genetics of Cardiovascular Disorders"

A special issue of Biomolecules (ISSN 2218-273X).

Deadline for manuscript submissions: closed (1 November 2019).

Special Issue Editor

Dr. Maliha Zahid
E-Mail Website
Guest Editor
Developmental Biology, University of Pittsburgh, Pittsburgh, PA
Interests: cardiac-targeting peptide; protein transduction domains; cilia biology; ciliogenesis; genetics; congenital heart disease; lung targeting peptides; cell penetrating peptides

Special Issue Information

Dear Colleagues,

The Human Genome Project, launched in 1990, with the aim to sequence all 3 billion base pairs of nucleotides, achieved completion in 2003 ahead of schedule. Surprisingly, only ~20,000 genes code for the entire human proteins and RNAs led to realization and revision of the one gene-one protein dogma. Following these landmark findings, the 1000 Genomes Project (to catalogue sequence variants in the human genome) and the Cancer Genome Atlas (to characterize mutations leading to cancer) were launched. These efforts are beginning to bear fruit in ushering in an era of personalized medicine best exemplified in cancer therapeutics.

However, the field of cardiovascular medicine is not far behind. Genome-wide association studies have identified now a total of 26 genetic loci associated with atrial fibrillation. Studies associating the risk of atherosclerosis with genetic loci in high-risk populations for coronary artery disease are emerging. Genome-wide association studies have also led to a burst of discovery in novel genetic susceptibility loci for hypertension. Perhaps the most significant advances have been in predicting the genetic basis of risk in cardiomyopathies like dilated cardiomyopathy and hypertrophic obstructive cardiomyopathy. Predicting the risk of sudden cardiac death on a genetic basis would significantly help the clinician in tailoring therapy according to risk. The aim of this Issue is to bring to the reader recent developments in understanding the genetic basis of myriad cardiovascular disorders ranging from congenital heart disease to atrial fibrillation to valvular heart disease and cardiomyopathies.

Dr. Maliha Zahid
Guest Editor

Manuscript Submission Information

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Keywords

  • congenital heart disease
  • atherosclerosis
  • atrial fibrillation
  • hypertrophic obstructive cardiomyopathy
  • dilated cardiomyopathy
  • valvular heart disease
  • hypertension
  • obesity
  • diabetes mellitus
  • aortic aneurysm
  • genetics

Published Papers (5 papers)

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Research

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Open AccessArticle
Associations of SNPs of the ADIPOQ Gene with Serum Adiponectin Levels, Unstable Angina, and Coronary Artery Disease
Biomolecules 2019, 9(10), 537; https://doi.org/10.3390/biom9100537 - 26 Sep 2019
Cited by 1 | Viewed by 989
Abstract
Adiponectin is encoded by the ADIPOQ gene and participates in the pathogenesis of cardiovascular and metabolic diseases. The goal of the study was to assess associations of rs17300539, rs266729, rs182052, rs2241766, and rs17366743 single nucleotide polymorphisms (SNPs) of the ADIPOQ gene with concentrations [...] Read more.
Adiponectin is encoded by the ADIPOQ gene and participates in the pathogenesis of cardiovascular and metabolic diseases. The goal of the study was to assess associations of rs17300539, rs266729, rs182052, rs2241766, and rs17366743 single nucleotide polymorphisms (SNPs) of the ADIPOQ gene with concentrations of serum adiponectin and with coronary atherosclerosis and type 2 diabetes mellitus in 447 patients (316 men and 131 women) subjected to coronary angiography. SNPs of the ADIPOQ gene of the study participants were genotyped using real-time PCR. Multivariate linear regression adjusted for covariates revealed significant association between rs182052 SNP and serum adiponectin concentration (β= –0.11; 95% confidence interval (95%CI): –0.19, –0.03; p = 0.016). Regression analysis revealed an increase in prevalence of unstable angina (OR (odds ratio) = 2.55; 95%CI 1.4–4.82; p = 0.018) and coronary artery disease (OR = 1.55; 95%CI 1.15–2.09; p = 0.021) per copy of the rs182052 A allele. Prevalence of type 2 diabetes mellitus was higher in subjects with the rs182052 A allele (OR = 2.29; 95%CI 1.29-4.21; p = 0.024). Regression analysis of rs266729 showed that prevalence of unstable angina was increased (OR = 3.59; 95%CI 1.17–10.01; p = 0.045) in the subjects with the GG genotype and prevalence of coronary artery disease (CAD) was significantly increased (OR = 1.48; 95%CI 1.09–2.03; p = 0.045) per copy of the G allele. Haplotype analysis revealed that the subjects with the GCATT haplotype have lower adiponectin levels (β= –0.15; p = 0.042) and higher prevalence of unstable angina (OR = 3.597; p = 0.007) compared with reference haplotype carriers. Thus, the results indicate that minor A allele of rs182052 of the ADIPOQ gene is significantly associated with a decrease in serum adiponectin levels, and two SNPs (rs182052 and rs266729) of the ADIPOQ gene are significantly associated with cardiovascular and metabolic diseases. Full article
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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Open AccessArticle
Clinical Value of Circulating Microribonucleic Acids miR-1 and miR-21 in Evaluating the Diagnosis of Acute Heart Failure in Asymptomatic Type 2 Diabetic Patients
Biomolecules 2019, 9(5), 193; https://doi.org/10.3390/biom9050193 - 17 May 2019
Cited by 11 | Viewed by 1346
Abstract
To investigate whether the circulating miR-1 (microRNA-1) and miR-21 expression might be used in the diagnosis of heart failure (HF) and silent coronary artery disease (SCAD) in asymptomatic type 2 diabetes mellitus (T2DM) patients and to explore the relationship of these miRs with [...] Read more.
To investigate whether the circulating miR-1 (microRNA-1) and miR-21 expression might be used in the diagnosis of heart failure (HF) and silent coronary artery disease (SCAD) in asymptomatic type 2 diabetes mellitus (T2DM) patients and to explore the relationship of these miRs with N-terminal pro-brain natriuretic peptide (NT-proBNP) and galectin-3. One hundred thirty-five consecutive patients with T2DM and 45 matched control subjects were enrolled in the study. This study consisted of the following four groups: control group (mean age: 60.23 ± 6.27 years, female/male (F/M): 23/22); diabetic group (DM) (mean age: 61.50 ± 5.08, F/M: 23/22); DM + SCAD group (mean age: 61.61 ± 6.02, F/M: 20/25); and DM + acute HF group (mean age: 62.07 ± 5.26 years, F/M: 20/25). miR-1 was downregulated in the DM, CAD + DM and HF + DM groups by 0.54, 0.54, and 0.12 fold as compared with controls, respectively. The miR-1 levels were significantly lower in HF + DM than DM with 0.22 fold changes (p < 0.001); and in patients with CAD + DM group with 0.22 fold changes (p < 0.001). Similarly, miR-21 was overexpressed in patients with DM, CAD + DM, and HF + DM with 1.30, 1.79 and 2.21 fold changes as compared with controls, respectively. An interesting finding is that the miR-21 expression was significantly higher in the HF + DM group as compared with the CAD + DM group; miR-1 was negatively correlated with NT-proBNP (r = −0.891, p < 0.001) and galectin-3 (r = −0.886, p < 0.001) in the HF + DM group; and miR-21 showed a strongly positive correlation with (r = 0.734, p < 0.001) and galectin-3 (r = 0.764. p < 0.001) in the HF + DM group. These results suggest that the circulating decreased miR-1 and increased miR-21 expression are associated with NT-proBNP and galectin-3 levels in acute HF + DM. Especially the miR-21 expression might be useful in predicting the onset of acute HF in asymptomatic T2DM patients. The miR-21 expression is more valuable than the miR-1 expression in predicting cardiovascular events of acute HF and the combined analysis of miR-21 expression, galectin-3, and NT-proBNP can increase the predictive value of miR-21 expression. Full article
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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Review

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Open AccessEditor’s ChoiceReview
The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective
Biomolecules 2020, 10(2), 182; https://doi.org/10.3390/biom10020182 - 24 Jan 2020
Cited by 11 | Viewed by 1860
Abstract
Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural [...] Read more.
Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed. Full article
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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Open AccessFeature PaperReview
Genetics of Congenital Heart Disease
Biomolecules 2019, 9(12), 879; https://doi.org/10.3390/biom9120879 - 16 Dec 2019
Cited by 11 | Viewed by 2025
Abstract
Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that [...] Read more.
Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes. Full article
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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Open AccessReview
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management
Biomolecules 2019, 9(12), 878; https://doi.org/10.3390/biom9120878 - 16 Dec 2019
Cited by 6 | Viewed by 1789
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement, myocyte disarray and myocardial fibrosis. Although these features can cause significant cardiac symptoms, many young [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement, myocyte disarray and myocardial fibrosis. Although these features can cause significant cardiac symptoms, many young individuals with HCM are asymptomatic or mildly symptomatic. Sudden cardiac death (SCD) may occur as the initial clinical manifestation. Over the past few decades, HCM has been considered a disease of sarcomere, and typically as an autosomal dominant disease with variable expressivity and incomplete penetrance. Important insights into the genetic landscape of HCM have enhanced our understanding of the molecular pathogenesis, empowered gene-based diagnostic testing to identify at-risk individuals, and offered potential targets for the development of therapeutic agents. This article reviews the current knowledge on the clinical genetics and management of HCM. Full article
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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