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Genes
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Genomics and Genetics of Cardiovascular Diseases
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Genomics and Genetics of Cardiovascular Diseases

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

Deadline for manuscript submissions: 5 February 2025 | Viewed by 2900

Special Issue Editor

Dr. Joseph Park

E-Mail Website
Guest Editor
Department of Internal Medicine, Weill Cornell Medicine, New York, NY, USA
Interests: human genomics; cardiovascular disease; electronic health records; rare variants
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The development of next-generation sequencing techniques has allowed us to make incredible progress in understanding the genetic etiologies of cardiovascular diseases over the past few decades. However, the number of different genes and genetic variants implicated in cardiovascular diseases such as cardiomyopathies, channelopathies, arrhythmias, and lipid disorders continues to increase. In addition, the complexity of the polygenic architectures of these diseases has yet to be untangled, leading to novel challenges in the interpretation of this vast data and clinical/translational applicability. Recent efforts to organize diverse large-scale populations linking genetic sequencing to longitudinal clinical data through biobanks and other large cohort studies have begun to shed light on these challenges in -omics research and the implementation of precision medicine for cardiovascular diseases. Paired with novel animal and cell culture models, these types of advances in genomics and bioinformatics have the potential to further our understanding of the genetic bases of cardiovascular diseases, nominate novel therapeutic targets for intervention, and provide data-driven guidance for the implementation of precision medicine. In summary, the aim of this Special Issue titled “Genomics and Genetics of Cardiovascular Diseases” is to present state-of-the-art review articles summarizing recent trends within the scientific community, as well as to publish original articles providing novel insights into the genetic and/or genomic aspects of cardiovascular diseases. Especially, studies with a focus on translational research and those based on large-scale studies linking genetic sequencing to clinical data are highly welcome.

You may choose our Joint Special Issue in Cardiogenetics.

Dr. Joseph Park
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 genetics/genomics
  • large-scale biobank and cohort studies
  • cardiomyopathies
  • channelopathies/arrhythmias
  • heart failure
  • lipid disorders

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Published Papers (3 papers)

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Research

Jump to: Review, Other

12 pages, 4168 KiB  
Article
Genotype-First Approach Identifies an Association between rs28374544/FOG2S657G and Liver Disease through Alterations in mTORC1 Signaling
by Donna M. Conlon, Siri Kanakala, Tess Cherlin, Yi-An Ko, Cecilia Vitali, Sharavana Gurunathan, Rasika Venkatesh, Jakob Woerner, Lindsay A. Guare, Penn Medicine Biobank, Anurag Verma, Shefali S. Verma and Marie A. Guerraty
Genes 2024, 15(8), 1098; https://doi.org/10.3390/genes15081098 - 21 Aug 2024
Viewed by 1049
Abstract
Metabolic dysfunction-associated Fatty Liver Disease (MAFLD) has emerged as one of the leading cardiometabolic diseases. Friend of GATA2 (FOG2) is a transcriptional co-regulator that has been shown to regulate hepatic lipid metabolism and accumulation. Using meta-analysis from several different biobank datasets, we identified [...] Read more.
Metabolic dysfunction-associated Fatty Liver Disease (MAFLD) has emerged as one of the leading cardiometabolic diseases. Friend of GATA2 (FOG2) is a transcriptional co-regulator that has been shown to regulate hepatic lipid metabolism and accumulation. Using meta-analysis from several different biobank datasets, we identified a coding variant of FOG2 (rs28374544, A1969G, S657G) predominantly found in individuals of African ancestry (minor allele frequency~20%), which is associated with liver failure/cirrhosis phenotype and liver injury. To gain insight into potential pathways associated with this variant, we interrogated a previously published genomics dataset of 38 human induced pluripotent stem cell (iPSCs) lines differentiated into hepatocytes (iHeps). Using Differential Gene Expression Analysis and Gene Set Enrichment Analysis, we identified the mTORC1 pathway as differentially regulated between iHeps from individuals with and without the variant. Transient lipid-based transfections were performed on the human hepatoma cell line (Huh7) using wild-type FOG2 and FOG2S657G and demonstrated that FOG2S657G increased mTORC1 signaling, de novo lipogenesis, and cellular triglyceride synthesis and mass. In addition, we observed a significant downregulation of oxidative phosphorylation in FOG2S657G cells in fatty acid-loaded cells but not untreated cells, suggesting that FOG2S657G may also reduce fatty acid to promote lipid accumulation. Taken together, our multi-pronged approach suggests a model whereby the FOG2S657G may promote MAFLD through mTORC1 activation, increased de novo lipogenesis, and lipid accumulation. Our results provide insights into the molecular mechanisms by which FOG2S657G may affect the complex molecular landscape underlying MAFLD. Full article
(This article belongs to the Special Issue Genomics and Genetics of Cardiovascular Diseases)
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Review

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39 pages, 1985 KiB  
Review
Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review
by Anni Moore and Marylyn D. Ritchie
Genes 2024, 15(12), 1509; https://doi.org/10.3390/genes15121509 - 25 Nov 2024
Viewed by 239
Abstract
Background/Objectives: Cardiovascular disease (CVD) and Alzheimer’s disease (AD) are two diseases highly prevalent in the aging population and often co-occur. The exact relationship between the two diseases is uncertain, though epidemiological studies have demonstrated that CVDs appear to increase the risk of AD [...] Read more.
Background/Objectives: Cardiovascular disease (CVD) and Alzheimer’s disease (AD) are two diseases highly prevalent in the aging population and often co-occur. The exact relationship between the two diseases is uncertain, though epidemiological studies have demonstrated that CVDs appear to increase the risk of AD and vice versa. This scoping review aims to examine the current identified overlapping genetics between CVDs and AD at the individual gene level and at the shared pathway level. Methods: Following PRISMA-ScR guidelines for a scoping review, we searched the PubMed and Scopus databases from 1990 to October 2024 for articles that involved (1) CVDs, (2) AD, and (3) used statistical methods to parse genetic relationships. Results: Our search yielded 2918 articles, of which 274 articles passed screening and were organized into two main sections: (1) evidence of shared genetic risk; and (2) shared mechanisms. The genes APOE, PSEN1, and PSEN2 reportedly have wide effects across the AD and CVD spectrum, affecting both cardiac and brain tissues. Mechanistically, changes in three main pathways (lipid metabolism, blood pressure regulation, and the breakdown of the blood–brain barrier (BBB)) contribute to subclinical and etiological changes that promote both AD and CVD progression. However, genetic studies continue to be limited by the availability of longitudinal data and lack of cohorts that are representative of diverse populations. Conclusions: Highly penetrant familial genes simultaneously increase the risk of CVDs and AD. However, in most cases, sets of dysregulated genes within larger-scale mechanisms, like changes in lipid metabolism, blood pressure regulation, and BBB breakdown, increase the risk of both AD and CVDs and contribute to disease progression. Full article
(This article belongs to the Special Issue Genomics and Genetics of Cardiovascular Diseases)
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Other

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20 pages, 2775 KiB  
Systematic Review
Genetics of Calcific Aortic Stenosis: A Systematic Review
by Vassilios S. Vassiliou, Nicholas Johnson, Kenneth Langlands and Vasiliki Tsampasian
Genes 2024, 15(10), 1309; https://doi.org/10.3390/genes15101309 - 10 Oct 2024
Viewed by 999
Abstract
Background: Calcific aortic stenosis is the most prevalent valvular abnormality in the Western world. Factors commonly associated with calcific aortic stenosis include advanced age, male sex, hypertension, diabetes and impaired renal function. This review synthesises the existing literature on genetic associations with calcific [...] Read more.
Background: Calcific aortic stenosis is the most prevalent valvular abnormality in the Western world. Factors commonly associated with calcific aortic stenosis include advanced age, male sex, hypertension, diabetes and impaired renal function. This review synthesises the existing literature on genetic associations with calcific aortic stenosis. Methods: A systematic search was conducted in the PubMed, Ovid and Cochrane libraries from inception to 21 July 2024 to identify human studies investigating the genetic factors involved in calcific aortic stenosis. From an initial pool of 1392 articles, 78 were selected for full-text review and 31 were included in the final qualitative synthesis. The risk of bias in these studies was assessed using the Newcastle Ottawa Scale. Results: Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1), the inflammatory pathway (IL-6, IL-10), the calcification pathway (PALMD, TEX41) and the endocrine pathway (PTH, VIT D, RUNX2, CACNA1C, ALPL). Additional genes such as NOTCH1, NAV1 and FADS1/2 influence different pathways. Mechanistically, these genes may promote a pro-inflammatory and pro-calcific environment in the aortic valve itself, leading to increased osteoblastic activity and subsequent calcific degeneration of the valve. Conclusions: Numerous genetic associations contribute to calcific aortic stenosis. Recognition of these associations can enhance risk stratification for individuals and their first-degree relatives, facilitate family screening, and importantly, pave the way for targeted therapeutic interventions focusing on the identified genetic factors. Understanding these genetic factors can also lead to gene therapy to prevent calcific aortic stenosis in the future. Full article
(This article belongs to the Special Issue Genomics and Genetics of Cardiovascular Diseases)
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