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Cardiovascular Disease Risk Factors, Genetics, and Prevention
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Cardiovascular Disease Risk Factors, Genetics, and Prevention

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 (1 October 2021) | Viewed by 4652

Special Issue Editor

Prof. Dr. Speranza Rubattu

E-Mail Website
Guest Editor
IRCCS Neuromed; Department of Clinical and Molecular Medicine, School of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy
Interests: cardiovascular diseases; molecular mechanisms; genetics; mitochondria; natriuretic peptides
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiovascular diseases (CVDs) still represent a major health issue causing a heavy burden on national health systems. New preventive and therapeutic strategies are needed to reduce the socioeconomic impact of CVDs. Knowledge gained over the last decades, through experimental, clinical, and epidemiological approaches, has revealed the existence of multiple risk factors, including both genetic and environmental factors, concurring to the predisposition to develop CVDs. The study of many genetically modified animal models has allowed the discovery of distinct genes underlying CVDs development along with their molecular mechanisms of action, with frequent translation to the human condition. Thus, we know that specific genes may modulate—when either differentially expressed or mutated—the individual predisposition to develop either monogenic or polygenic forms of CVDs. Their interaction with environmental factors is critical to explaining the resulting pathological phenotypes. Importantly, based on the current knowledge, new preventive and therapeutic strategies can be designed to reduce the impact of CVDs.

This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics and epigenetic mechanisms involved in CVD pathogenesis. Current and future directions, with particular focus on improved prevention of CVDs, particularly based on genetic acquisition, will be considered.

Prof. Speranza Rubattu
Guest Editor

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. 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 disease risk factors
  • Atherosclerosis
  • Epidemiology
  • Gene variants
  • Dietary factors
  • Lipids
  • Animal models

Published Papers (2 papers)

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Research

9 pages, 681 KiB  
Article
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction
by Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil and Suzanne M. Leal
Genes 2021, 12(12), 1915; https://doi.org/10.3390/genes12121915 - 28 Nov 2021
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Abstract
Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a [...] Read more.
Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani family with cardiac disease and features of Marfan’s syndrome (MFS). Methods: A family with left ventricle (LV) diastolic dysfunction and MFS phenotype was assessed in Pakistan. The clinical information and blood samples from the patients were collected after physical, cardiovascular, and ophthalmologic examinations. An affected individual (proband) was subjected to whole-exome sequencing (WES). The findings were further validated through Sanger sequencing in the family. Results: Through WES and sanger validation, we identified a novel variant NM_000138.4; c.1402A>G in the Fibrillin-1 (FBN1) gene that segregates with LV diastolic dysfunction and MFS. Furthermore, bioinformatic evaluation suggested that the novel variant is deleterious and disease-causing. Conclusions: This study identified for the first time a novel FBN1 variant in a family with LV diastolic dysfunction and MFS in Pakistan. Full article
(This article belongs to the Special Issue Cardiovascular Disease Risk Factors, Genetics, and Prevention)
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12 pages, 1121 KiB  
Article
Genome-Wide Association Study on Adiponectin-Mediated Suppression of HDL-C Levels in Taiwanese Individuals Identifies Functional Haplotypes in CDH13
by Leay-Kiaw Er, Semon Wu, Tzuyu Cheng, Yu-Lin Ko and Ming-Sheng Teng
Genes 2021, 12(10), 1582; https://doi.org/10.3390/genes12101582 - 07 Oct 2021
Cited by 2 | Viewed by 1890
Abstract
CDH13 encodes T-cadherin, which is expressed in the vasculature and cardiac myocytes and is the receptor for hexameric and high-molecular-weight adiponectin. The CDH13 region is the most pivotal locus associated with adiponectin level. Mediation analysis is a method to explore the effect of [...] Read more.
CDH13 encodes T-cadherin, which is expressed in the vasculature and cardiac myocytes and is the receptor for hexameric and high-molecular-weight adiponectin. The CDH13 region is the most pivotal locus associated with adiponectin level. Mediation analysis is a method to explore the effect of a third variable, it is assumed that the magnitude of the relationship between the independent and dependent variables will be reduced by statistical adjustment for a third variable. In addition, mediation can further occur in the case when the mediator acts as a pathway-suppressor variable that means a suppression effect may be suggested if the statistical removal of a mediation effect could increase the magnitude of the relationship between the independent and dependent variables. Here, we aimed to explore the suppression effect in a genome-wide association study, and investigate possible mechanisms that may link adiponectin to CDH13 variants and high-density lipoprotein cholesterol (HDL-C). Genome-wide association data for adiponectin and HDL-C were accessible for 2349 Taiwan-biobank participants. The mediation analysis was conducted with the CDH13 lead single nucleotide polymorphism (SNP) rs4783244. The cloned constructs of CDH13 haplotypes (GG and TT) identified from the rs4783244 G/T and rs12051272 G/T SNPs were transiently expressed in HEK293T cells and investigated using the luciferase reporter assay. Genome-wide association analysis showed that HDL-C is significantly associated with variants in CDH13 after adjusting for the adiponectin level. The lead SNP rs4783244 was significantly associated with lower adiponectin levels and exhibited a suppression effect on HDL-C when adiponectin was included as a third factor in the mediation analysis. Luciferase reporter assay results further demonstrated that the GG haplotype increased enhancer activity, whereas the haplotype TT significantly reduced the activity of this enhancer. We present the first evidence of the suppressive role of adiponectin in the genome-wide association between CDH13 and HDL-C. CDH13 may increase the HDL-C levels, and its expression is suppressed by adiponectin. Full article
(This article belongs to the Special Issue Cardiovascular Disease Risk Factors, Genetics, and Prevention)
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