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Genetics and Genomics of Psychiatric Disorders
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Genetics and Genomics of Psychiatric Disorders

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

Deadline for manuscript submissions: closed (20 December 2024) | Viewed by 4641

Special Issue Editor

Dr. Sarah Tosato

E-Mail Website
Guest Editor
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy
Interests: genetics; polygenic risk scores; psychosis; stress-related disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, entitled “Genetics and Genomics of Psychiatric Disorders” aims to collect original articles and reviews that deal with studies of the genetics of mental disorders and address the topic of the interaction with environmental risk factors. Furthermore, studies that investigate whether the heterogeneous phenotypic manifestations or traits that characterize several mental disorders, such as psychosis and major depression, underlie different genetic characteristics (both at the level of CNV or PRS) are welcome. Moreover, while genome-wide association studies successfully discover new genomic loci associated with complex disorders such as mental ones, the biological interpretation of these findings remains challenging. Thus, this Special Issue is also interested in studies concerning risk genes' biological interpretation and molecular mechanisms to uncover an etiopathogenetic explanation of mental disorders.

Dr. Sarah Tosato
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

  • CNV
  • PGS
  • genomics
  • GWAS

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Published Papers (3 papers)

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Research

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17 pages, 2794 KiB  
Article
A Genome-Wide Association Study of First-Episode Psychosis: A Genetic Exploration in an Italian Cohort
by Mirko Treccani, Lucia Maggioni, Claudia Di Giovanni, Laura Veschetti, Doriana Cristofalo, Cristina Patuzzo, Antonio Lasalvia, Branko Ristic, Roushan Kumar, The PICOS-Veneto Group, Mirella Ruggeri, Chiara Bonetto, Giovanni Malerba and Sarah Tosato
Genes 2025, 16(4), 439; https://doi.org/10.3390/genes16040439 - 7 Apr 2025
Viewed by 458
Abstract
Background: Psychosis, particularly schizophrenia (SZ), is influenced by genetic and environmental factors. The neurodevelopmental hypothesis suggests that genetic factors affect neuronal circuit connectivity during perinatal periods, hence causing the onset of the diseases. In this study, we performed a genome-wide association study (GWAS) [...] Read more.
Background: Psychosis, particularly schizophrenia (SZ), is influenced by genetic and environmental factors. The neurodevelopmental hypothesis suggests that genetic factors affect neuronal circuit connectivity during perinatal periods, hence causing the onset of the diseases. In this study, we performed a genome-wide association study (GWAS) in a sample of the first episode of psychosis (FEP). Methods: A sample of 147 individuals diagnosed with non-affective psychosis and 102 controls were recruited and assessed. After venous blood and DNA extraction, the samples were genotyped. Genetic data underwent quality controls, genotype imputation, and a case-control genome-wide association study (GWAS). After the GWAS, results were investigated using an in silico functional mapping and annotation approach. Results: Our GWAS showed the association of 27 variants across 13 chromosomes at genome-wide significance (p < 1 × 10−7) and a total of 1976 candidate variants across 188 genes at suggestive significance (p < 1 × 10−5), mostly mapping in non-coding or intergenic regions. Gene-based tests reported the association of the SUFU (p = 4.8 × 10−7) and NCAN (p = 1.6 × 10−5) genes. Gene-sets enrichment analyses showed associations in the early stages of life, spanning from 12 to 24 post-conception weeks (p < 1.4 × 10−3) and in the late prenatal period (p = 1.4 × 10−3), in favor of the neurodevelopmental hypothesis. Moreover, several matches with the GWAS Catalog reported associations with strictly related traits, such as SZ, as well as with autism spectrum disorder, which shares some genetic overlap, and risk factors, such as neuroticism and alcohol dependence. Conclusions: The resulting genetic associations and the consequent functional analysis displayed common genetic liability between the non-affective psychosis, related traits, and risk factors. In sum, our investigation provided novel hints supporting the neurodevelopmental hypothesis in SZ and—in general—in non-affective psychoses. Full article
(This article belongs to the Special Issue Genetics and Genomics of Psychiatric Disorders)
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14 pages, 908 KiB  
Article
Interaction of Val66Met Brain-Derived Neurotrophic Factor and 5-HTTLPR Serotonin Transporter Gene Polymorphisms with Lifetime Prevalence of Post-Traumatic Stress Disorder in Primary Care Patients
by Alejandra Guzman-Castillo, Benjamín Vicente, Kristin Schmidt, Esteban Moraga-Escobar, Romina Rojas-Ponce, Paola Lagos, Ximena Macaya and Juan-Luis Castillo-Navarrete
Genes 2024, 15(11), 1355; https://doi.org/10.3390/genes15111355 - 22 Oct 2024
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Abstract
Background/Objectives: Post-traumatic stress disorder (PTSD) is a complex condition influenced by both genetic and environmental factors. This longitudinal study aimed to explore the connection between two specific genetic polymorphisms, Val66Met and 5-HTTLPR, and the lifetime prevalence of PTSD in patients from primary care [...] Read more.
Background/Objectives: Post-traumatic stress disorder (PTSD) is a complex condition influenced by both genetic and environmental factors. This longitudinal study aimed to explore the connection between two specific genetic polymorphisms, Val66Met and 5-HTTLPR, and the lifetime prevalence of PTSD in patients from primary care settings. We also examined the role of sociodemographic and psychosocial factors to provide a more comprehensive view of PTSD risk. Methods: We recruited a cohort of primary care patients and diagnosed PTSD using a standardized diagnostic interview. Genetic analyses focused on Val66Met and 5-HTTLPR polymorphisms. We applied logistic regression to assess the association between these genetic markers and PTSD, considering factors such as gender, family history of depression, and experiences of childhood maltreatment. Results: Our findings show that women, individuals with a family history of depression, and those exposed to childhood maltreatment have a higher risk of developing PTSD. While the Val66Met polymorphism was not significantly associated with PTSD, the 5-HTTLPR polymorphism showed a marginal relationship. No significant interaction was found between the two polymorphisms in relation to PTSD. Conclusions: This study underscores the multifactorial nature of PTSD, influenced by both genetic and environmental factors. The findings point to the importance of further research on genetic predispositions and highlight the value of early interventions for high-risk populations in primary care settings. Full article
(This article belongs to the Special Issue Genetics and Genomics of Psychiatric Disorders)
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Review

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13 pages, 837 KiB  
Review
Exploring Candidate Gene Studies and Alexithymia: A Systematic Review
by Yazmín Hernández-Díaz, Alma Delia Genis-Mendoza, Thelma Beatriz González-Castro, Ana Fresán, Carlos Alfonso Tovilla-Zárate, María Lilia López-Narváez, Isela Esther Juárez-Rojop and Humberto Nicolini
Genes 2024, 15(8), 1025; https://doi.org/10.3390/genes15081025 - 4 Aug 2024
Viewed by 2177
Abstract
Background: Alexithymia is a trait involving difficulties in processing emotions. Genetic association studies have investigated candidate genes involved in alexithymia’s pathogenesis. Therefore, the aim of the present study was to perform a systematic review of the genetic background associated with alexithymia. Methods: A [...] Read more.
Background: Alexithymia is a trait involving difficulties in processing emotions. Genetic association studies have investigated candidate genes involved in alexithymia’s pathogenesis. Therefore, the aim of the present study was to perform a systematic review of the genetic background associated with alexithymia. Methods: A systematic review of genetic studies of people with alexithymia was conducted. Electronic databases including PubMed, Scopus, and Web of Science were searched for the study purpose. We used the words “Alexithymia”, “gene”, “genetics”, “variants”, and “biomarkers”. The present systematic review was performed following the Preferred Reporting Items for Systematic reviews and Meta-Analyses statement. We found only candidate gene studies. A total of seventeen studies met the eligibility criteria, which comprised 22,361 individuals. The candidate genes associated with alexithymia were the serotoninergic pathway genes solute carrier family 6 member 4 (SLC6A4), serotonin 1A receptor (HTR1A), and serotonin 1A receptor (HTR2A); the neurotransmitter metabolism genes dopamine receptor D2 (DRD2), ankyrin repeat and kinase domain containing 1 (ANKK1), catechol-o-methyltransferase (COMT), brain-derived neurotrophic factor (BDNF), and oxytocin receptor (OXTR); and other pathway genes, vitamin D-binding protein (VDBP), tumor protein P53 regulated apoptosis inducing protein 1 (TP53AIP1), Rho GTPase Activating Protein 32 (ARHGAP32), and transmembrane protein 88B (TMEM88B). Conclusion: The results of this study showed that only case–control gene studies have been performed in alexithymia. On the basis of our findings, the majority of alexithymia genes and polymorphisms in this study belong to the serotoninergic pathway and neurotransmitter metabolism genes. These data suggest a role of serotoninergic neurotransmission in alexithymia. Nevertheless, more and future research is required to learn about the role of these genes in alexithymia. Full article
(This article belongs to the Special Issue Genetics and Genomics of Psychiatric Disorders)
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