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Genetic and Genomic Research of Cardiovascular Diseases
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Genetic and Genomic Research of Cardiovascular Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 November 2024) | Viewed by 6600

Special Issue Editor

Dr. Aleksandra Stankovic

E-Mail Website
Guest Editor
Laboratory for Radiobiology and Molecular Genetic, Department of Health and Environmental Research, “Vinca” Institute of Nuclear Sciences-National Institute of the Republic of Serbia, University of Belgrade, Belgrade, Serbia
Interests: genomics; epigenetics; transcriptomics; bioinformatics; big data analysis, cardiovascular; translational medicine

Special Issue Information

Dear Colleagues,

Cardiovascular diseases (CVDs) remain a major life-threatening issue worldwide. The pathogenesis of CVDs is closely related to environmental factors and genetic background. As the majority of CVDs, however, are polygenic, many genetic and genomic studies have been conducted in recent decades to elucidate the individual differences in the pathophysiological mechanisms of CVDs. Genome-wide association studies have uncovered evidence of hundreds of cardiovascular loci associated with different CVD phenotypes, but there is a need to combine these data with sequencing data. Missense, rare, and common variants need to be integrated in clinically applicable tools.  However, components of regulatory mechanisms in gene expression/function that are changed in CVD tissue and related to environmental stimuli are still missing, but epigenetic studies have started to explain this. The majority of our genome is non-coding, and recent data suggest a role of long non-coding (LncRNA) and micro RNA (miRNA) as small non-coding RNAs in the regulation of gene expression. The search for new biomarkers in CV medicine was recently widened with the discovery of exosomes/extracellular vesicles (EVs), biologically functional cargo that transmit mRNA and microRNA to other cells and regulate the genetic signature during both physiological and pathological processes in CVDs.

This Special Issue welcomes up-to-date original research studies on genetic and epigenetic alteration and other critical modifiers of gene expression, including systematic reviews of the genetic or genomic research in CVD, in order to summarize knowledge on risk prediction, diagnosis, or therapeutic interventions by proposing next-generation platforms. Integration of different areas of genetic research will shed light on the missing heritability in CVD genomic background.

Dr. Aleksandra Stankovic
Guest Editor

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Keywords

  • cardiovascular diseases
  • genome-wide association studies (GWASs)
  • next-generation sequencing (NGS)
  • whole-exome/genome sequencing
  • gene expression
  • mRNA
  • microRNA
  • genotype
  • phenotype
  • haplotype
  • common variant
  • rare variant
  • human
  • animal models
  • cell models
  • organoids
  • exosomes/extracellular vesicles (EVs)
  • RNA
  • Circular RNA
  • ncRNA
  • long non-coding RNA
  • vesicle

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Published Papers (4 papers)

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Research

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20 pages, 1884 KiB  
Article
Omics Data Integration Uncovers mRNA-miRNA Interaction Regions in Genes Associated with Chronic Venous Insufficiency
by Fatma Sarı-Tunel, Ayse Demirkan, Burcak Vural, Cenk Eray Yıldız and Evrim Komurcu-Bayrak
Genes 2025, 16(1), 40; https://doi.org/10.3390/genes16010040 - 31 Dec 2024
Viewed by 997
Abstract
Background/Objectives: Chronic venous insufficiency (CVI), a chronic vascular dysfunction, is a common health problem that causes serious complications such as painful varicose veins and even skin ulcers. Identifying the underlying genetic and epigenetic factors is important for improving the quality of life of [...] Read more.
Background/Objectives: Chronic venous insufficiency (CVI), a chronic vascular dysfunction, is a common health problem that causes serious complications such as painful varicose veins and even skin ulcers. Identifying the underlying genetic and epigenetic factors is important for improving the quality of life of individuals with CVI. In the literature, many genes, variants, and miRNAs associated with CVI have been identified through genomic and transcriptomic studies. Despite molecular pathogenesis studies, how the genes associated with CVI are regulated by miRNAs and the effect of variants in binding regions on expression levels are still not fully understood. In this study, previously identified genes, variants, and miRNAs associated with CVI, common variants in the mRNA-miRNA binding regions, were investigated using in silico analyses. Methods: For this purpose, miRNA research tools, MBS (miRNA binding site) database, genome browsers, and the eQTL Calculator in the GTEx portal were used. Results: We identified SNVs associated with CVI that may play a direct role in the miRNA-mediated regulation of the ZNF664, COL1A2, HFE, MDN, MTHFR, SRPX, TDRD5, TSPYL4, VEGFA, and APOE genes. In addition, when the common SNVs in the mRNA binding region of 75 unique CVI related-miRNAs in five candidate genes associated with CVI were examined, seven miRNAs associated with the expression profiles of ABCA1, PIEZO1, and CASZ1 genes were identified. Conclusions: In conclusion, the relationship between genetic markers identified in the literature that play a role in the pathogenesis of the CVI and the expression profiles was evaluated for the first time in the mRNA-miRNA interaction axis. Full article
(This article belongs to the Special Issue Genetic and Genomic Research of Cardiovascular Diseases)
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16 pages, 1322 KiB  
Article
Expression of HMGB1, TGF-β1, BIRC3, ADAM17, CDKN1A, and FTO in Relation to Left Ventricular Remodeling in Patients Six Months after the First Myocardial Infarction: A Prospective Study
by Jovana Kuveljic, Ana Djordjevic, Ivan Zivotic, Milica Dekleva, Ana Kolakovic, Maja Zivkovic, Aleksandra Stankovic and Tamara Djuric
Genes 2024, 15(10), 1296; https://doi.org/10.3390/genes15101296 - 2 Oct 2024
Cited by 1 | Viewed by 1298
Abstract
Background: After myocardial infarction (MI), adverse left ventricular (LV) remodeling may occur. This is followed by LV hypertrophy and eventually heart failure. The remodeling process is complex and goes through multiple phases. The aim of this study was to investigate the expression of [...] Read more.
Background: After myocardial infarction (MI), adverse left ventricular (LV) remodeling may occur. This is followed by LV hypertrophy and eventually heart failure. The remodeling process is complex and goes through multiple phases. The aim of this study was to investigate the expression of HMGB1, TGF-β1, BIRC3, ADAM17, CDKN1A, and FTO, each involved in a specific step of LV remodeling, in association with the change in the echocardiographic parameters of LV structure and function used to assess the LV remodeling process in the peripheral blood mononuclear cells (PBMCs) of patients six months after the first MI. The expression of selected genes was also determined in PBMCs of controls. Methods: The study group consisted of 99 MI patients, who were prospectively followed-up for 6 months, and 25 controls. Cardiac parameters, measured via conventional 2D echocardiography, were evaluated at two time points: 3–5 days and 6 months after MI. The mRNA expression six-months-post-MI was detected using TaqMan® technology (Applied Biosystems, Thermo Fisher Scientific, Waltham, MA, USA). Results:HMGB1 mRNA was significantly higher in patients with adverse LV remodeling six-months-post-MI than in patients without adverse LV remodeling (p = 0.04). HMGB1 mRNA was significantly upregulated in patients with dilated LV end-diastolic diameter (LVEDD) (p = 0.03); dilated LV end-diastolic volume index (LVEDVi) (p = 0.03); severely dilated LV end-systolic volume index (LVESVi) (p = 0.006); impaired LV ejection fraction (LVEF) (p = 0.01); and LV enlargement (p = 0.03). It was also significantly upregulated in PBMCs from patients compared to controls (p = 0.005). TGF-β1 and BIRC3 mRNA were significantly lower in patients compared to controls (p = 0.02 and p = 0.05, respectively). Conclusions: Our results suggest that HMGB1 is involved in adverse LV remodeling six-months-post-MI, even on the mRNA level. Further research and validation are needed. Full article
(This article belongs to the Special Issue Genetic and Genomic Research of Cardiovascular Diseases)
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12 pages, 669 KiB  
Article
Somatic Variants Acquired Later in Life Associated with Thoracic Aortic Aneurysms: JAK2 V617F
by Christina Waldron, Mohammad A. Zafar, Deqiong Ma, Hui Zhang, Daniel Dykas, Bulat A. Ziganshin, Andreea Popa, Alokkumar Jha, Jennifer M. Kwan and John A. Elefteriades
Genes 2024, 15(7), 883; https://doi.org/10.3390/genes15070883 - 5 Jul 2024
Viewed by 2066
Abstract
The JAK2 V617F somatic variant is a well-known driver of myeloproliferative neoplasms (MPN) associated with an increased risk for athero-thrombotic cardiovascular disease. Recent studies have demonstrated its role in the development of thoracic aortic aneurysm (TAA). However, limited clinical information and level of [...] Read more.
The JAK2 V617F somatic variant is a well-known driver of myeloproliferative neoplasms (MPN) associated with an increased risk for athero-thrombotic cardiovascular disease. Recent studies have demonstrated its role in the development of thoracic aortic aneurysm (TAA). However, limited clinical information and level of JAK2 V617F burden have been provided for a comprehensive evaluation of potential confounders. A retrospective genotype-first study was conducted to identify carriers of the JAK2 V617F variant from an internal exome sequencing database in Yale DNA Diagnostics Lab. Additionally, the overall incidence of somatic variants in the JAK2 gene across various tissue types in the healthy population was carried out based on reanalysis of SomaMutDB and data from the UK Biobank (UKBB) cohort to compare our dataset to the population prevalence of the variant. In our database of 12,439 exomes, 594 (4.8%) were found to have a thoracic aortic aneurysm (TAA), and 12 (0.049%) were found to have a JAK2 V617F variant. Among the 12 JAK2 V617F variant carriers, five had a TAA (42%), among whom four had an ascending TAA and one had a descending TAA, with a variant allele fraction ranging from 11.2% to 20%. Among these five patients, 60% were female, and average age at diagnosis was 70 (49–79). The mean ascending aneurysm size was 5.05 cm (range 4.6–5.5 cm), and four patients had undergone surgical aortic replacement or repair. UKBB data revealed a positive correlation between the JAK2 V617F somatic variant and aortic valve disease (effect size 0.0086, p = 0.85) and TAA (effect size = 0.004, p = 0.92), although not statistically significant. An unexpectedly high prevalence of TAA in our dataset (5/594, 0.84%) is greater than the prevalence reported before for the general population, supporting its association with TAA. JAK2 V617F may contribute a meaningful proportion of otherwise unexplained aneurysm patients. Additionally, it may imply a potential JAK2-specific disease mechanism in the developmental of TAA, which suggests a possible target of therapy that warrants further investigation. Full article
(This article belongs to the Special Issue Genetic and Genomic Research of Cardiovascular Diseases)
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Review

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35 pages, 2960 KiB  
Review
Lipoprotein Lipase: Structure, Function, and Genetic Variation
by Shehan D. Perera, Jian Wang, Adam D. McIntyre and Robert A. Hegele
Genes 2025, 16(1), 55; https://doi.org/10.3390/genes16010055 - 5 Jan 2025
Cited by 2 | Viewed by 1521
Abstract
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in [...] Read more.
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated overview of genetic variation in LPL in the context of HTG, with a focus on disease-causing and/or disease-associated variants. We provide a curated list of 300 disease-causing variants discovered in LPL, as well as an exon-by-exon breakdown of the LPL gene and protein, highlighting the impact of variants and the various functional residues of domains of the LPL protein. We also provide a curated list of variants of unknown or uncertain significance, many of which may be upgraded to pathogenic/likely pathogenic classification should an additional case and/or segregation data be reported. Finally, we also review the association between benign/likely benign variants in LPL, many of which are common polymorphisms, and the TG phenotype. Full article
(This article belongs to the Special Issue Genetic and Genomic Research of Cardiovascular Diseases)
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