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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: 15 November 2024 | Viewed by 464

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

Manuscript Submission Information

Manuscripts should be submitted online at mdpi.longhoe.net by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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

Published Papers (1 paper)

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Research

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 (registering DOI) - 5 Jul 2024
Viewed by 155
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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