Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
2.8
Journals
Genes
Special Issues
Genetics of Complex Human Disease 2024
share announcement

Genetics of Complex Human Disease 2024

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

Deadline for manuscript submissions: 20 October 2024 | Viewed by 5384

Special Issue Editors

Dr. Jingyun Yang

E-Mail Website
Guest Editor
Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL 60612, USA
Interests: Alzheimer's disease; genetic epidemiology; biostatistics; complex diseases/disorders; time-varying effect model
Special Issues, Collections and Topics in MDPI journals
Dr. Chuntao Zhao

E-Mail Website
Guest Editor
Brain Tumor Center, Cancer & Blood Diseases Institute, Cincinnati, OH, USA
Interests: neurogenesis; autism; chromatin remodeling; glia development; multiple sclerosis; brain tumor
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The vast majority of human diseases, including many congenital and adult-onset diseases, are complex diseases, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), major depressive disorder (MDD), posttraumatic stress disorder (PTSD), and type 2 diabetes. The etiologies of complex diseases are multifocal, with contributions from genetic, environment, and lifestyle factors, and their interactions. Although previous research, such as genome-wide association studies (GWAS), epigenome-wide association studies (EWAS), and metabolome-wide association studies (MWAS), was successful in identifying novel loci underlying the pathogenesis of complex diseases, much remains to be explored to better understand the exact roles of genetic factors underlying the etiology of complex disease. Findings from genetic studies help to pinpoint potential therapeutic targets, identify informative biomarkers, and design effective preventive strategies.

In this Special Issue, we invite scientists from various fields of research to report their findings on genetics of different complex human diseases. We welcome different types of research articles, such as systematic reviews/meta-analyses, genetic epidemiology studies, basic research, or interesting case reports.

Dr. Jingyun Yang
Dr. Chuntao Zhao
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. 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

  • genetics
  • epigenetics
  • complex diseases
  • genome-wide association studies
  • epigenome-wide association studies
  • metabolome-wide association studies
  • genetic variant
  • causal analysis

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 (5 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

Jump to: Review, Other

18 pages, 3664 KiB  
Article
Uncovering Porphyrin Accumulation in the Tumor Microenvironment
by Swamy R. Adapa, Abdus Sami, Pravin Meshram, Gloria C. Ferreira and Rays H. Y. Jiang
Genes 2024, 15(7), 961; https://doi.org/10.3390/genes15070961 - 22 Jul 2024
Viewed by 525
Abstract
Heme, an iron-containing tetrapyrrole, is essential in almost all organisms. Heme biosynthesis needs to be precisely regulated particularly given the potential cytotoxicity of protoporphyrin IX, the intermediate preceding heme formation. Here, we report on the porphyrin intermediate accumulation within the tumor microenvironment (TME), [...] Read more.
Heme, an iron-containing tetrapyrrole, is essential in almost all organisms. Heme biosynthesis needs to be precisely regulated particularly given the potential cytotoxicity of protoporphyrin IX, the intermediate preceding heme formation. Here, we report on the porphyrin intermediate accumulation within the tumor microenvironment (TME), which we propose to result from dysregulation of heme biosynthesis concomitant with an enhanced cancer survival dependence on mid-step genes, a process we recently termed “Porphyrin Overdrive”. Specifically, porphyrins build up in both lung cancer cells and stromal cells in the TME. Within the TME’s stromal cells, evidence supports cancer-associated fibroblasts (CAFs) actively producing porphyrins through an imbalanced pathway. Conversely, normal tissues exhibit no porphyrin accumulation, and CAFs deprived of tumor cease porphyrin overproduction, indicating that both cancer and tumor-stromal porphyrin overproduction is confined to the cancer-specific tissue niche. The clinical relevance of our findings is implied by establishing a correlation between imbalanced porphyrin production and overall poorer survival in more aggressive cancers. These findings illuminate the anomalous porphyrin dynamics specifically within the tumor microenvironment, suggesting a potential target for therapeutic intervention. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
►▼ Show Figures

Figure 1

Review

Jump to: Research, Other

18 pages, 379 KiB  
Review
Theory of Mind: A Brief Review of Candidate Genes
by Corrado Silvestri, Simona Scaini, Ludovica Giani, Mattia Ferro, Maria Nobile and Marcella Caputi
Genes 2024, 15(6), 717; https://doi.org/10.3390/genes15060717 - 31 May 2024
Viewed by 558
Abstract
Deficits in theory of mind (ToM), known as the ability to understand the other’s mind, have been associated with several psychopathological outcomes. The present systematic review aims to summarize the results of genetic studies that investigated gene polymorphisms associated with mentalization performance tasks [...] Read more.
Deficits in theory of mind (ToM), known as the ability to understand the other’s mind, have been associated with several psychopathological outcomes. The present systematic review aims to summarize the results of genetic studies that investigated gene polymorphisms associated with mentalization performance tasks in children and adults. The systematic review was carried out following PRISMA guidelines, and the literature search was conducted in PubMed and EBSCOhost using the following keywords: ‘theory of mind, mentalizing, mindreading’ and ‘gene, genetic basis’. Nineteen studies met the eligibility criteria for inclusion. Most of the literature focused on the role of DRD4, DAT1, OXTR, OXT, COMT, ZNF804A, AVP, AVPR, SCL6A4, EFHC2, MAO-A, and the family of GTF2I genes in influencing ToM. However, controversial results emerged in sustaining the link between specific genetic polymorphisms and mentalization abilities in children and adults. Available data show heterogeneous outcomes, with studies reporting an association between the same family genes in subjects of the same age and other studies reporting no correlation. This does not allow us to draw any solid conclusions but paves the way for exploring genes involved in ToM tasks. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
►▼ Show Figures

Figure 1

25 pages, 2318 KiB  
Review
Genomics of Treatable Traits in Asthma
by Antonio Espuela-Ortiz, Elena Martin-Gonzalez, Paloma Poza-Guedes, Ruperto González-Pérez and Esther Herrera-Luis
Genes 2023, 14(9), 1824; https://doi.org/10.3390/genes14091824 - 20 Sep 2023
Cited by 3 | Viewed by 1839
Abstract
The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide [...] Read more.
The astounding number of genetic variants revealed in the 15 years of genome-wide association studies of asthma has not kept pace with the goals of translational genomics. Moving asthma diagnosis from a nonspecific umbrella term to specific phenotypes/endotypes and related traits may provide insights into features that may be prevented or alleviated by therapeutical intervention. This review provides an overview of the different asthma endotypes and phenotypes and the genomic findings from asthma studies using patient stratification strategies and asthma-related traits. Asthma genomic research for treatable traits has uncovered novel and previously reported asthma loci, primarily through studies in Europeans. Novel genomic findings for asthma phenotypes and related traits may arise from multi-trait and specific phenotyping strategies in diverse populations. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
►▼ Show Figures

Figure 1

Other

Jump to: Research, Review

22 pages, 607 KiB  
Systematic Review
Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies
by Sek-Ying Chair, Ka-Ming Chow, Cecilia Wai-Ling Chan, Judy Yuet-Wa Chan, Bernard Man-Hin Law and Mary Miu-Yee Waye
Genes 2024, 15(8), 1082; https://doi.org/10.3390/genes15081082 - 15 Aug 2024
Abstract
Autistic spectrum disorder (ASD) is a neurodevelopmental disability characterised by the impairment of social interaction and communication ability. The alarming increase in its prevalence in children urged researchers to obtain a better understanding of the causes of this disease. Genetic factors are considered [...] Read more.
Autistic spectrum disorder (ASD) is a neurodevelopmental disability characterised by the impairment of social interaction and communication ability. The alarming increase in its prevalence in children urged researchers to obtain a better understanding of the causes of this disease. Genetic factors are considered to be crucial, as ASD has a tendency to run in families. In recent years, with technological advances, the importance of structural variations (SVs) in ASD began to emerge. Most of these studies, however, focus on the Caucasian population. As a populated ethnicity, ASD shall be a significant health issue in China. This systematic review aims to summarise current case-control studies of SVs associated with ASD in the Chinese population. A list of genes identified in the nine included studies is provided. It also reveals that similar research focusing on other genetic backgrounds is demanded to manifest the disease etiology in different ethnic groups, and assist the development of accurate ethnic-oriented genetic diagnosis. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
9 pages, 4222 KiB  
Case Report
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
by Hugo H. Abarca-Barriga, Renzo Punil Luciano and Flor Vásquez Sotomayor
Genes 2023, 14(12), 2212; https://doi.org/10.3390/genes14122212 - 14 Dec 2023
Viewed by 1523
Abstract
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft [...] Read more.
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9–14 within RAD21, which confirmed the diagnosis of Cornelia de Lange syndrome type 4. Our patient did not show any neurologic phenotype (until the time of diagnosis), although neurodevelopmental disorders are frequently present in patients with Cornelia de Lange syndrome type 4, and despite carrying a deletion that was larger than previously reported. Therefore, unknown genetic modifiers or intrinsic mechanisms of RAD21 variants may exist and should be studied. Full article
(This article belongs to the Special Issue Genetics of Complex Human Disease 2024)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-5
Back to TopTop