Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
2.6
2.4
Journals
JCDD
Special Issues
10th Anniversary of JCDD—'Genetics' Section
share announcement

10th Anniversary of JCDD—'Genetics' Section

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Genetics".

Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 3832

Special Issue Editors

Dr. Maria Grazia Andreassi

E-Mail Website
Guest Editor
CNR Institute of Clinical Physiology, 56124 Pisa, Italy
Interests: atherosclerosis; coronary artery disease; vascular aging; congenital heart disease; genetics; molecular biology; DNA biomarkers; medical ionizing exposure
Special Issues, Collections and Topics in MDPI journals
Dr. Lamia Ait-Ali

E-Mail Website
Guest Editor
CNR Institute of Clinical Physiology, 54100 Massa, Italy
Interests: pediatric and adult congenital heart disease (CHD); cardiovascular magnetic resonance applications in pediatric and adult CHD; pediatric acquired heart disease and in aortic valves diseases; biomarkers and genetic factors in congenital heart disease; quality of life in CHD; medical ionizing exposure

Special Issue Information

Dear Colleagues,

In recent decades, significant progress has been made in unraveling the genetic factors across the spectrum of cardiovascular disorders, inclusive of coronary artery disease, arrhythmias, cardiomyopathies, aortopathies, and congenital defects of the heart and associated vessels.

However, a comprehensive understanding of the genetic factors underlying cardiovascular disorders is essential to optimize their diagnostic value for disease onset and progression as well as to develop novel therapeutic targets and personalized interventions.

This Special Issue aims to attract original research papers as well as review articles on the most recent advances in the field of cardiovascular genetics.

We are particularly interested in papers that involve association studies (e.g., genome-wide association studies, whole-genome sequencing analyses and gene–environment interactions), epigenetic relationships at the DNA or RNA level, and the synergism of imaging and genetics, which influence risk, clinical outcomes and/or therapy response.

Dr. Maria Grazia Andreassi
Dr. Lamia Ait-Ali
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com 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. Journal of Cardiovascular Development and Disease 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 2700 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 genetics
  • cardiovascular disorders
  • whole-genome sequencing
  • next-generation sequencing
  • gene–environment interactions
  • omics analysis
  • cardiac imaging

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

22 pages, 4318 KiB  
Article
Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways
by Tamiel N. Turley, Jeanne L. Theis, Jared M. Evans, Zachary C. Fogarty, Rajiv Gulati, Sharonne N. Hayes, Marysia S. Tweet and Timothy M. Olson
J. Cardiovasc. Dev. Dis. 2023, 10(9), 393; https://doi.org/10.3390/jcdd10090393 - 12 Sep 2023
Cited by 1 | Viewed by 1891
Abstract
Rare familial spontaneous coronary artery dissection (SCAD) kindreds implicate genetic disease predisposition and provide a unique opportunity for candidate gene discovery. Whole-genome sequencing was performed in fifteen probands with non-syndromic SCAD who had a relative with SCAD, eight of whom had a second [...] Read more.
Rare familial spontaneous coronary artery dissection (SCAD) kindreds implicate genetic disease predisposition and provide a unique opportunity for candidate gene discovery. Whole-genome sequencing was performed in fifteen probands with non-syndromic SCAD who had a relative with SCAD, eight of whom had a second relative with extra-coronary arteriopathy. Co-segregating variants and associated genes were prioritized by quantitative variant, gene, and disease-level metrics. Curated public databases were queried for functional relationships among encoded proteins. Fifty-four heterozygous coding variants in thirteen families co-segregated with disease and fulfilled primary filters of rarity, gene variation constraint, and predicted-deleterious protein effect. Secondary filters yielded 11 prioritized candidate genes in 12 families, with high arterial tissue expression (n = 7), high-confidence protein-level interactions with genes associated with SCAD previously (n = 10), and/or previous associations with connective tissue disorders and aortopathies (n = 3) or other vascular phenotypes in mice or humans (n = 11). High-confidence associations were identified among 10 familial SCAD candidate-gene-encoded proteins. A collagen-encoding gene was identified in five families, two with distinct variants in COL4A2. Familial SCAD is genetically heterogeneous, yet perturbations of extracellular matrix, cytoskeletal, and cell–cell adhesion proteins implicate common disease-susceptibility pathways. Incomplete penetrance and variable expression suggest genetic or environmental modifiers. Full article
(This article belongs to the Special Issue 10th Anniversary of JCDD—'Genetics' Section)
►▼ Show Figures

Figure 1

10 pages, 1592 KiB  
Article
Influence of Chromosome 9p21.3 rs1333049 Variant on Telomere Length and Their Interactive Impact on the Prognosis of Coronary Artery Disease
by Andrea Borghini, Antonella Mercuri, Jonica Campolo, Marina Parolini, Rudina Ndreu, Stefano Turchi and Maria Grazia Andreassi
J. Cardiovasc. Dev. Dis. 2023, 10(9), 387; https://doi.org/10.3390/jcdd10090387 - 7 Sep 2023
Cited by 1 | Viewed by 1405
Abstract
Background: Both telomere shortening and the chromosome 9p21.3 (Chr9p21) rs1333049 (G/C) variant are involved in coronary artery disease (CAD) risk, likely affecting mechanisms related to cell cycle arrest and vascular senescence. The aim of the study was to examine the link between Chr9p21 [...] Read more.
Background: Both telomere shortening and the chromosome 9p21.3 (Chr9p21) rs1333049 (G/C) variant are involved in coronary artery disease (CAD) risk, likely affecting mechanisms related to cell cycle arrest and vascular senescence. The aim of the study was to examine the link between Chr9p21 rs1333049 variant and leucocyte telomere length (LTL), as well as their interactive effect on the risk of major adverse cardiovascular events (MACEs). Methods: A cohort of 472 patients with angiographically proven and clinically stable CAD were included in the study. At baseline, the LTL, biochemical parameters, and genotype analysis of Chr9p21 rs1333049 variant were measured in all patients. The primary endpoint of this study was the occurrence of MACE defined as a composite of coronary-related death, nonfatal MI, and coronary revascularization. Results: On multivariable linear regression analysis, age (p = 0.02) and Chr9p21 rs1333049 variant (p = 0.002) were the only independent predictors of LTL levels. Carriers of the CC genotype of this SNP had shorter telomeres than GC carriers (p = 0.02) and GG carriers (p = 0.0005). After a follow-up with a mean period of 62 ± 19 months, 90 patients (19.1%) had MACE. Short LTL was an independent prognostic factor of MACE incidence (HR:2.2; 95% CI: 1.3–3.7; p = 0.005) after adjustment for potential confounders. There was a significant interaction (p = 0.01) between the LTL and rs1333049 variant, with patients with risk-allele C and short LTL having a higher risk (HR:5.8; 95% CI: 1.8–19.2; p = 0.004). Conclusion: A strong relationship between LTL and Chr9p21 rs1333049 variant was identified, and they interactively affect the risk of poor prognosis in CAD patients. Full article
(This article belongs to the Special Issue 10th Anniversary of JCDD—'Genetics' Section)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop