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Biomedicines
Special Issues
Genetics of Chronic Disease
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Genetics of Chronic Disease

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: closed (31 July 2024) | Viewed by 4306

Special Issue Editors

Dr. Vicente Andreu-Fernández

E-Mail Website
Guest Editor
1. Biosanitary Research Institute, Valencian International University (VIU), 46002 Valencia, Spain
2. Neonatology Unit, Hospital Clinic de Barcelona, Grup de Recerca Infancia i Entorn (GRIE), Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain
Interests: rare diseases; chronic diseases; fetal alcohol spectrum disorders; perinatal environment; obesity; addictions; alcohol; clinical epidemiology; public health; omic sciences; molecular biology; genetics
Dr. Maribel Marquina

E-Mail Website
Guest Editor
Biosanitary Research Institute, Valencian International University (VIU), 46002 Valencia, Spain
Interests: Pulmonary circulation; Neurodegenerative diseases; Nutritional genomics; Addiction; Animal models; Public Health; Omic Sciences; Cellular and Molecular Biology; Genetics

Special Issue Information

Dear Colleagues, 

As you will know, chronic disorders are the most frequent human pathologies, with the pathophysiology of these complex diseases being the result of gene–environment interactions. Recent advances in omics technologies have produced an exponential increase in high-throughput sequencing data, improving the molecular diagnostics of obesity, diabetes mellitus, and neurodegenerative or neurodevelopmental diseases. The findings from omics studies highlight the potential of these massive data methodologies to identify therapeutic targets, diagnosis biomarkers, and design effective preventive strategies based on personalized medicine.

This Special Issue in “Genetics of Chronic Disease" aims to collect original articles and reviews on genetic and environmental factors that influence risk and promote/protect the development of chronic diseases. We encourage authors to submit their work related to chronic disorders caused either by single or multiple genes or specific interactions with environmental factors analyzed for genome-wide genotyping and whole genome, exome, exosome, or clinical diagnosis using advanced omics technologies (genomics, transcriptomics, proteomics, or metabolomics). This issue also addresses articles focused on the development of new strategies for early diagnosis and interventions to reduce the deleterious effects of the presence of specific genetic or environmental factors in different chronic diseases.

Dr. Vicente Andreu-Fernández
Dr. Maribel Marquina
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. Biomedicines 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

  • pathophysiology of chronic disease
  • complex diseases
  • genetic disorders
  • SNP microarrays
  • whole genome or exome sequencing
  • molecular diagnostics
  • epigenetics
  • obesity
  • diabetes mellitus
  • neurodevelopmental disease
  • neurodegenerative disease

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Published Papers (2 papers)

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17 pages, 3774 KiB  
Article
Shared Genetic Architectures between Coronary Artery Disease and Type 2 Diabetes Mellitus in East Asian and European Populations
by Xiaoyi Li, Zechen Zhou, Yujia Ma, Kexin Ding, Han Xiao, Dafang Chen and Na Liu
Biomedicines 2024, 12(6), 1243; https://doi.org/10.3390/biomedicines12061243 - 3 Jun 2024
Viewed by 1055
Abstract
Coronary artery disease (CAD) is a common comorbidity of type 2 diabetes mellitus (T2DM). However, the pathophysiology connecting these two phenotypes remains to be further understood. Combined analysis in multi-ethnic populations can help contribute to deepening our understanding of biological mechanisms caused by [...] Read more.
Coronary artery disease (CAD) is a common comorbidity of type 2 diabetes mellitus (T2DM). However, the pathophysiology connecting these two phenotypes remains to be further understood. Combined analysis in multi-ethnic populations can help contribute to deepening our understanding of biological mechanisms caused by shared genetic loci. We applied genetic correlation analysis and then performed conditional and joint association analyses in Chinese, Japanese, and European populations to identify the genetic variants jointly associated with CAD and T2DM. Next, the associations between genes and the two traits were also explored. Finally, fine-mapping and functional enrichment analysis were employed to identify the potential causal variants and pathways. Genetic correlation results indicated significant genetic overlap between CAD and T2DM in the three populations. Over 10,000 shared signals were identified, and 587 were shared by East Asian and European populations. Fifty-six novel shared genes were found to have significant effects on both CAD and T2DM. Most loci were fine-mapped to plausible causal variant sets. Several similarities and differences of the involved genes in GO terms and KEGG pathways were revealed across East Asian and European populations. These findings highlight the importance of immunoregulation, neuroregulation, heart development, and the regulation of glucose metabolism in shared etiological mechanisms between CAD and T2DM. Full article
(This article belongs to the Special Issue Genetics of Chronic Disease)
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31 pages, 1340 KiB  
Systematic Review
Novel Interventions on Comorbidities in Patients with Fetal Alcohol Spectrum Disorder (FASD): An Integrative Review
by Vicente Andreu-Fernández, Nunzia La Maida, Maribel Marquina, Afrouz Mirahi, Oscar García-Algar, Simona Pichini and Adele Minutillo
Biomedicines 2024, 12(3), 496; https://doi.org/10.3390/biomedicines12030496 - 22 Feb 2024
Viewed by 2435
Abstract
Prenatal exposure to alcohol can cause Fetal Alcohol Spectrum Disorders (FASDs) after birth, encompassing a spectrum of physical, cognitive, and behavioral abnormalities. FASD represents a severe non-genetic disability avoidable through alcohol abstinence during pregnancy and when planning it. Clinical severity depends on alcohol [...] Read more.
Prenatal exposure to alcohol can cause Fetal Alcohol Spectrum Disorders (FASDs) after birth, encompassing a spectrum of physical, cognitive, and behavioral abnormalities. FASD represents a severe non-genetic disability avoidable through alcohol abstinence during pregnancy and when planning it. Clinical severity depends on alcohol impact, symptomatology, and resulting disabilities. FASD is a permanent disability with no recognized specific medical care. Conversely, secondary FASD-related disabilities can be symptomatically treated. This integrative review aims to provide information about the novel pharmacological treatments of FASD-associated comorbidities by selecting the last ten years of studies carried out on animals and humans. PRISMA guidelines were followed to search human/animal model studies of pharmacological interventions on FASD comorbidities, using different databases (PubMed, Cochrane, etc.). From 1348 articles, 44 met the criteria after full-text analysis. Firstly, all the reported studies point out that early diagnosis and tailored interventions are the principal tools to reduce FASD-related secondary disabilities, due to the fact that there is currently no approved pharmacological treatment for the tissue damage which produces FASD. Despite limitations in study designs and small sample sizes, these review results highlight how the treatment strategies of children with FASD have changed. In the past, studies focused on treating symptoms, but in the last years, researchers have turned their attention to the prevention targeting central nervous system embryogenesis. Novel treatments like choline and natural antioxidants and nutritional supplements are the most investigated treatments in humans with promising results. More follow-up studies need to be performed, to confirm and generalize reported efficacy to a wide sample size. Full article
(This article belongs to the Special Issue Genetics of Chronic Disease)
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