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Genetic Factors and Their Interactions in the Susceptibility to Multifactorial...
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Genetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases in 2023

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 (25 August 2023) | Viewed by 4700

Special Issue Editor

Dr. Cinzia Ciccacci

E-Mail Website
Guest Editor
UniCamillus, Saint Camillus International University of Health Sciences, 8, 00131 Roma, Italy
Interests: genetics of multifactorial disorders; pharmacogenetics; miRNA variability
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Multifactorial disorders, with their heterogeneity in clinical phenotypes and their inter-individual variability in prognosis and treatment response, still represent a great challenge for medicine. The etiology of these disorders is triggered by the interaction among predisposing genetic factors, epigenetic factors and environmental factors. In recent decades, the improvement of technology has permitted one to investigate the genetic component of multifactorial disorders. Many genome-wide association studies (GWAS) have been extremely successful in identifying genes that contribute to multifactorial disorder susceptibility. In recent years, epigenetics has also attracted the interest of researchers, and today we have evidence of epigenetic alterations in different diseases, including cancers, cardiovascular diseases, and autoimmune diseases. Although epigenetic factors are now considered important risk factors for the onset of multifactorial disorders, their investigation is still at an early stage and the knowledge about the functional relevance of epigenetics needs to be implemented. Looking ahead, understanding the role of epigenetic modifications in the pathogenesis of these diseases and their interaction with genetic factors could suggest novel targets for disease therapy and promote a more personalized medicine.

Therefore, the aim of this Special Issue will be to welcome original articles and reviews covering all aspects of genetics and epigenetics, and their potential interactions, involved both in the susceptibility to multifactorial disorders and in the modulation of their clinical phenotypes and complications.

Dr. Cinzia Ciccacci
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

  • multifactorial disorders
  • genetic factors
  • epigenetic factors
  • polymorphisms
  • gene–gene interactions
  • gene–miRNA interactions
  • miRNA
  • methylation state

Published Papers (3 papers)

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Research

13 pages, 2232 KiB  
Article
Evaluation of Cell-Specific Alterations in Alzheimer’s Disease and Relevance of In Vitro Models
by Giorgio Guido, Katia Mangano, Lyubka Tancheva, Reni Kalfin, Gian Marco Leone, Andrea Saraceno, Paolo Fagone, Ferdinando Nicoletti and Maria Cristina Petralia
Genes 2023, 14(12), 2187; https://doi.org/10.3390/genes14122187 - 07 Dec 2023
Viewed by 978
Abstract
Alzheimer’s disease (AD) is a neurodegenerative disorder classically characterized by two neuropathological hallmarks: β-amyloid plaques and tau tangles in the brain. However, the cellular and molecular mechanisms involved in AD are still elusive, which dampens the possibility of finding new and more effective [...] Read more.
Alzheimer’s disease (AD) is a neurodegenerative disorder classically characterized by two neuropathological hallmarks: β-amyloid plaques and tau tangles in the brain. However, the cellular and molecular mechanisms involved in AD are still elusive, which dampens the possibility of finding new and more effective therapeutic interventions. Current in vitro models are limited in modelling the complexity of AD pathogenesis. In this study, we aimed to characterize the AD expression signature upon a meta-analysis of multiple human datasets, including different cell populations from various brain regions, and compare cell-specific alterations in AD patients and in vitro models to highlight the appropriateness and the limitations of the currently available models in recapitulating AD pathology. The meta-analysis showed consistent enrichment of the Rho GTPases signaling pathway among different cell populations and in the models. The accuracy of in vitro models was higher for neurons and lowest for astrocytes. Our study underscores the particularly low fidelity in modelling down-regulated genes across all cell populations. The top enriched pathways arising from meta-analysis of human data differ from the enriched pathways arising from the overlap. We hope that our data will prove useful in indicating a starting point in the development of future, more complex, 3D in vitro models. Full article
(This article belongs to the Special Issue Genetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases in 2023)
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24 pages, 1173 KiB  
Article
A Three-Way Interaction of Sex, PER2 rs56013859 Polymorphism, and Family Maltreatment in Depressive Symptoms in Adolescents
by Catalina Torres Soler, Sofia H. Kanders, Mattias Rehn, Susanne Olofsdotter, Cecilia Åslund and Kent W. Nilsson
Genes 2023, 14(9), 1723; https://doi.org/10.3390/genes14091723 - 29 Aug 2023
Viewed by 1739
Abstract
The prevalence of depressive symptoms in adolescents is 12–18% and is twice as frequent in females. Sleep problems and thoughts of death are depressive symptoms or co-occurrent phenomena. Family maltreatment is a risk factor for later depressive symptoms and the period circadian regulator [...] Read more.
The prevalence of depressive symptoms in adolescents is 12–18% and is twice as frequent in females. Sleep problems and thoughts of death are depressive symptoms or co-occurrent phenomena. Family maltreatment is a risk factor for later depressive symptoms and the period circadian regulator (PER) has been studied in relation to neurotransmitters, adaptation to stress, and winter depression. The purpose of this work was to study the relation of the three-way interactions of sex, PER2 rs56013859, and family maltreatment in relation to core depressive symptoms, sleep complaints, and thoughts of death and suicide in self-reports from a cohort of Swedish adolescents in 2012, 2015, and 2018. Cross-sectional and longitudinal analyses with linear and logistic regressions were used to study the relationships to the three outcomes. The three-way interaction was related to core depressive symptoms at both baseline and six years later. In contrast, the model did not show any relation to the other dependent variables. At 13–15 years, a sex-related differential expression was observed: females with the minor allele C:C/C:T exposed to family maltreatment showed higher levels of core depressive symptoms. Six years later, the trend was inverted among carriers of minor alleles. Full article
(This article belongs to the Special Issue Genetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases in 2023)
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12 pages, 472 KiB  
Article
APOE Gene Associated with Dementia-Related Traits, Depression, and Anxiety in the Hispanic Population
by Chun Xu, Victoria Padilla, Stephanie Lozano, Daniela Gamez, Brenda Bin Su, Xuan Wang, Gladys Maestre and Kesheng Wang
Genes 2023, 14(7), 1405; https://doi.org/10.3390/genes14071405 - 06 Jul 2023
Cited by 1 | Viewed by 1460
Abstract
Alzheimer’s disease (AD), a main cause of dementia, is commonly seen in aging populations with a strong genetic component. AD is one of the most common neurodegenerative disorders; it is a genetically and clinically heterogeneous disease. Specific demographic factors and genetic variants have [...] Read more.
Alzheimer’s disease (AD), a main cause of dementia, is commonly seen in aging populations with a strong genetic component. AD is one of the most common neurodegenerative disorders; it is a genetically and clinically heterogeneous disease. Specific demographic factors and genetic variants have been identified in non-Hispanic populations; however, limited studies have observed the Hispanic population. Therefore, we focused on investigating a known gene, APOE, associated with AD-related phenotypes and two psychiatric diseases (depression and anxiety) within the U.S. Hispanic population in our current study. A total of 1382 subjects were studied based on data collected from the Texas Alzheimer’s Research and Care Consortium (TARCC, N = 1320) and the Initial Study of Longevity and Dementia from the Rio Grande Valley (ISLD-RGV, N = 62). Questionnaires regarding demographics, medical history, and blood/saliva samples were collected. We genotyped the APOE gene. The current findings indicated that APOE-ε4 was associated with not only AD (p < 0.0001) but also with anxiety (p < 0.0001) and depression (p = 0.0004). However, APOE-ε3 was associated with depression (p = 0.002) in the Hispanic population. We provide additional evidence in which APOE-ε4 increased the risk for AD in Hispanics. For the first time, APOE alleles show increased risks for anxiety and depression in Hispanics. Further research is warranted to confirm the current findings. Full article
(This article belongs to the Special Issue Genetic Factors and Their Interactions in the Susceptibility to Multifactorial Diseases in 2023)
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