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The Relationship between Psychiatric Disorders and Genetics
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The Relationship between Psychiatric Disorders and Genetics

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

Deadline for manuscript submissions: closed (31 October 2021) | Viewed by 24978

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; endophenotype; gene-environment interaction; poligenic risk score; genetic variants
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It has been well-established that most psychiatric disorders are multifactorial and highly heritable disorders, following complex inheritance, due to the existence of genetic variants in multiple genes that can predispose to the disorders, albeit with a reduced penetrance. Thanks to the technological advancement of the last few decades as genome-wide association studies (GWASs), it has been found that most of the variation in risk among individuals is genetic, involving alleles that cover the full range of frequencies, including common alleles, rare copy number (CNV) variants and rare coding (RCV) variants. Despite this, the biological consequences of these genetic variants are largely unknown, as well as the biological basis of the clinical heterogeneity that characterizes most psychiatric disorders. Finally, with the advent of the GWAS approach, it was possible to calculate an individual score, known as the polygenic risk score, summarizing the level of genetic risk for several psychiatric disorders and to relate it to the clinical characteristics of the disease.

This Special Issue in Genes on “The Relationship between Psychiatric Disorders and Genetics” will address how genetic variants interact with environmental risk factors in determining disease susceptibility or are able to modulate the phenotypic expression of the disease. Moreover, this Special Issue will provide an overview of recent developments in specialized research topics and critical perspectives on upcoming challenges.

I’m looking forward to receiving your contribution.

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

  • DNA variants
  • GxE interaction
  • PRS
  • Phenotypic expression

Published Papers (6 papers)

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Research

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12 pages, 1012 KiB  
Article
New Genetic Biomarkers of the Overlap Syndrome Tension-Type Headache and Arterial Hypertension
by Polina V. Alyabyeva, Olga V. Chastina, Marina M. Petrova, Natalia V. Lareva, Natalia P. Garganeeva, Galina A. Chumakova, Marina S. Cherniaeva and Natalia A. Shnayder
Genes 2022, 13(10), 1823; https://doi.org/10.3390/genes13101823 - 9 Oct 2022
Cited by 3 | Viewed by 1546
Abstract
Background: Nitric oxide (NO) is an important autocrine and paracrine signaling molecule that plays a crucial role in cardiovascular physiology and pathology regulation. NO is an important molecule involved in regulation of cerebral and extra cerebral cranial blood flow and arterial diameters. Reduced [...] Read more.
Background: Nitric oxide (NO) is an important autocrine and paracrine signaling molecule that plays a crucial role in cardiovascular physiology and pathology regulation. NO is an important molecule involved in regulation of cerebral and extra cerebral cranial blood flow and arterial diameters. Reduced bioavailability of NO in the endothelium is an important precursor for impaired vasodilation and arterial hypertension (AH). Furthermore, NO is involved in nociceptive processing. A NO-induced biphasic response with immediate and a delayed headache is typical for chronic tension-type headaches (TTH) in humans. The aim was to study the association of allelic variants and genotypes of the single nucleotide variant (SNV) rs3782218 of the NOS1 gene with the TTH and AH overlap syndrome development in middle age adults. Materials and Methods: We observed 91 Caucasian participants who resided in Krasnoyarsk city: group 1 (TTH and AH overlap syndrome)—30 patients; group 2 (AH without headache)—30 patients; group 3 (control)—31 healthy volunteers. The diagnosis of AH was based on criteria of the European Society of Cardiology and the European Society of Hypertension (2018) и criteria of the Russian Society of Cardiology (2020). Diagnosis of TTH was based on criteria of the International Classification of Headache Disorders (2018). Real-time polymerase chain reaction was used for the determination of allelic variants and genotypes of the SNV rs3782218 of the NOS1 gene in all groups of participants. Results: The frequency of the minor allele T of rs3782218 was statistically significantly higher by 16.7 times in group 1 (TTH and AH) compared to group 3 (control): 26.7% versus 1.6%, respectively (p-value = 0.000065) and 3.2 times higher in group 1 (TTH and AH) compared to group 2 (AH without headache): 26.7% versus 8.3%, respectively (p-value = 0.008). The frequency of the heterozygous (CT) genotype was statistically significantly higher in group 1 (TTH and AH) compared to group 3 (control): 40.0% versus 3.2% (p-value = 0.000454) and in group 1 (TTH and AH) compared to group 2 (AH without headache): 40.0% versus 16.7% (p-value = 0.045). The minor allele T was statistically significantly associated with a high risk of developing the TTH and AH overlap syndrome compared with the controls (odds ratio (OR) = 22.2 (95% confidential interval (CI): 2.8–173.5)) and compared with AH without headache (OR = 4.0 (95% CI: 1.4–11.8)). Although the frequency of the minor allele T was 5.2 times higher in group 2 (AH without headache) compared with group 3 (control), there were not statistically significantly differences (p-value = 0.086). Conclusion: Thus, the minor allele T of rs3782218 of the NOS1 gene is an important genetic biomarker for a high risk of developing the TTH and AH overlap syndrome in hypertensive patients. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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18 pages, 2743 KiB  
Article
The Influence of 5-HTTLPR, BDNF Rs6265 and COMT Rs4680 Polymorphisms on Impulsivity in Bipolar Disorder: The Role of Gender
by Andrea Boscutti, Alessandro Pigoni, Giuseppe Delvecchio, Matteo Lazzaretti, Gian Mario Mandolini, Paolo Girardi, Adele Ferro, Michela Sala, Vera Abbiati, Marco Cappucciati, Marcella Bellani, Cinzia Perlini, Maria Gloria Rossetti, Matteo Balestrieri, Giuseppe Damante, Carolina Bonivento, Roberta Rossi, Livio Finos, Alessandro Serretti, Paolo Brambilla and the GECOBIP Groupadd Show full author list remove Hide full author list
Genes 2022, 13(3), 482; https://doi.org/10.3390/genes13030482 - 9 Mar 2022
Cited by 9 | Viewed by 3083
Abstract
Impulsivity has been proposed as an endophenotype for bipolar disorder (BD); moreover, impulsivity levels have been shown to carry prognostic significance and to be quality-of-life predictors. To date, reports about the genetic determinants of impulsivity in mood disorders are limited, with no studies [...] Read more.
Impulsivity has been proposed as an endophenotype for bipolar disorder (BD); moreover, impulsivity levels have been shown to carry prognostic significance and to be quality-of-life predictors. To date, reports about the genetic determinants of impulsivity in mood disorders are limited, with no studies on BD individuals. Individuals with BD and healthy controls (HC) were recruited in the context of an observational, multisite study (GECOBIP). Subjects were genotyped for three candidate single-nucleotide polymorphisms (SNPs) (5-HTTLPR, COMT rs4680, BDNF rs6265); impulsivity was measured through the Italian version of the Barratt Impulsiveness Scale (BIS-11). A mixed-effects regression model was built, with BIS scores as dependent variables, genotypes of the three polymorphisms as fixed effects, and centers of enrollment as random effect. Compared to HC, scores for all BIS factors were higher among subjects with euthymic BD (adjusted β for Total BIS score: 5.35, p < 0.001). No significant interaction effect was evident between disease status (HC vs. BD) and SNP status for any polymorphism. Considering the whole sample, BDNF Met/Met homozygosis was associated with lower BIS scores across all three factors (adjusted β for Total BIS score: −10.2, p < 0.001). A significant 5-HTTLPR x gender interaction was found for the SS genotype, associated with higher BIS scores in females only (adjusted β for Total BIS score: 12.0, p = 0.001). Finally, COMT polymorphism status was not significantly associated with BIS scores. In conclusion, BD diagnosis did not influence the effect on impulsivity scores for any of the three SNPs considered. Only one SNP—the BDNF rs6265 Met/Met homozygosis—was independently associated with lower impulsivity scores. The 5-HTTLPR SS genotype was associated with higher impulsivity scores in females only. Further studies adopting genome-wide screening in larger samples are needed to define the genetic basis of impulsivity in BD. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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12 pages, 462 KiB  
Article
Obstetric Complications and Polygenic Risk Score: Which Role in Predicting a Severe Short-Term Outcome in Psychosis?
by Sarah Tosato, Chiara Bonetto, Evangelos Vassos, Antonio Lasalvia, Katia De Santi, Margherita Gelmetti, Doriana Cristofalo, Alexander Richards, Mirella Ruggeri and on behalf of the PICOS-Veneto Group
Genes 2021, 12(12), 1895; https://doi.org/10.3390/genes12121895 - 26 Nov 2021
Cited by 4 | Viewed by 1874
Abstract
Understanding and improving the outcomes of psychosis remains a major challenge for clinical research. Obstetric complications (OCs) as a risk factor for schizophrenia (SZ) have been investigated as a potential predictor of outcomes in relation to illness severity and poorer treatment outcome, but [...] Read more.
Understanding and improving the outcomes of psychosis remains a major challenge for clinical research. Obstetric complications (OCs) as a risk factor for schizophrenia (SZ) have been investigated as a potential predictor of outcomes in relation to illness severity and poorer treatment outcome, but there are less reports on first episode psychosis (FEP) patients. We test whether OCs, collected in a cohort of FEP patients, can predict illness course and psychopathology severity after 2 years from the onset. Moreover, we explore whether the SZ-polygenic risk score (PRS) would predict the illness course and whether the interaction between OCS and PRS shows a significant effect. A cohort of 264 FEP patients were assessed with standardized instruments. OCs were recorded using the Lewis–Murray scale in interviews with the patients’ mothers: 30% of them reported at least one OC. Patients with at least one OC were more likely to have a non-remitting course of illness compared to those without OCs (35.3% vs. 16.3%, p = 0.014). No association between SZ-PRS and course of illness nor evidence for a gene–environment interaction was found. In our sample, poor short-term outcomes were associated with OCs, while SZ-PRS was not a prognostic indicator of poor outcomes. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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15 pages, 920 KiB  
Article
Brain Anatomical Mediators of GRIN2B Gene Association with Attention/Hyperactivity Problems: An Integrated Genetic-Neuroimaging Study
by Maria Nobile, Eleonora Maggioni, Maddalena Mauri, Marco Garzitto, Sara Piccin, Carolina Bonivento, Roberto Giorda, Rossano Girometti, Barbara Tomasino, Massimo Molteni, Franco Fabbro and Paolo Brambilla
Genes 2021, 12(8), 1193; https://doi.org/10.3390/genes12081193 - 30 Jul 2021
Cited by 3 | Viewed by 2038
Abstract
This study aims to investigate the genetic and neural determinants of attention and hyperactivity problems. Using a proof-of-concept imaging genetics mediation design, we explore the relationship between the glutamatergic GRIN2B gene variants and inattention/hyperactivity with neuroanatomical measures as intermediates. Fifty-eight children and adolescents [...] Read more.
This study aims to investigate the genetic and neural determinants of attention and hyperactivity problems. Using a proof-of-concept imaging genetics mediation design, we explore the relationship between the glutamatergic GRIN2B gene variants and inattention/hyperactivity with neuroanatomical measures as intermediates. Fifty-eight children and adolescents were evaluated for behavioral problems at three time points over approximately 7 years. The final assessment included blood drawing for genetic analyses and 3T magnetic resonance imaging. Attention/hyperactivity problems based on the Child Behavior Checklist/6-18, six GRIN2B polymorphisms and regional cortical thickness, and surface area and volume were estimated. Using general linear model (GLM) and mediation analyses, we tested whether GRIN2B exerted an influence on stable inattention/hyperactivity over development, and to what extent this effect was mediated by brain morphology. GLM results enlightened the relation between GRIN2B rs5796555-/A, volume in the left cingulate isthmus and inferior parietal cortices and inattention/hyperactivity. The mediation results showed that rs5796555-/A effect on inattention/hyperactivity was partially mediated by volume in the left isthmus of the cingulate cortex, suggesting a key role of this region in translating glutamatergic GRIN2B variations to attention/hyperactivity problems. This evidence can have important implications in the management of neurodevelopmental and psychiatric disorders. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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Review

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23 pages, 17420 KiB  
Review
Genetic Predisposition to Schizophrenia and Depressive Disorder Comorbidity
by Natalia A. Shnayder, Maxim A. Novitsky, Nikolay G. Neznanov, Oleg V. Limankin, Azat R. Asadullin, Artem V. Petrov, Diana V. Dmitrenko, Ekaterina A. Narodova, Natalia V. Popenko and Regina F. Nasyrova
Genes 2022, 13(3), 457; https://doi.org/10.3390/genes13030457 - 2 Mar 2022
Cited by 6 | Viewed by 7414
Abstract
Background: Patients with schizophrenia have an increased risk of depressive disorders compared to the general population. The comorbidity between schizophrenia and depression suggests a potential coincidence of the pathophysiology and/or genetic predictors of these mental disorders. The aim of this study was [...] Read more.
Background: Patients with schizophrenia have an increased risk of depressive disorders compared to the general population. The comorbidity between schizophrenia and depression suggests a potential coincidence of the pathophysiology and/or genetic predictors of these mental disorders. The aim of this study was to review the potential genetic predictors of schizophrenia and depression comorbidity. Materials and Methods: We carried out research and analysis of publications in the databases PubMed, Springer, Wiley Online Library, Taylor & Francis Online, Science Direct, and eLIBRARY.RU using keywords and their combinations. The search depth was the last 10 years (2010–2020). Full-text original articles, reviews, meta-analyses, and clinical observations were analyzed. A total of 459 articles were found, of which 45 articles corresponding to the purpose of this study were analyzed in this topic review. Results: Overlap in the symptoms and genetic predictors between these disorders suggests that a common etiological mechanism may underlie the presentation of comorbid depression in schizophrenia. The molecular mechanisms linking schizophrenia and depression are polygenic. The most studied candidate genes are GRIN1, GPM6A, SEPTIN4, TPH1, TPH2, CACNA1C, CACNB2, and BCL9. Conclusion: Planning and conducting genome-wide and associative genetic studies of the comorbid conditions under consideration in psychiatry is important for the development of biological and clinical predictors and a personalized therapy strategy for schizophrenia. However, it should be recognized that the problems of predictive and personalized psychiatry in the diagnosis and treatment of schizophrenia and comorbid disorders are far from being resolved. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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13 pages, 296 KiB  
Review
Gene-Environment Interactions in Schizophrenia: A Literature Review
by Marah H. Wahbeh and Dimitrios Avramopoulos
Genes 2021, 12(12), 1850; https://doi.org/10.3390/genes12121850 - 23 Nov 2021
Cited by 46 | Viewed by 8118
Abstract
Schizophrenia is a devastating mental illness with a strong genetic component that is the subject of extensive research. Despite the high heritability, it is well recognized that non-genetic factors such as certain infections, cannabis use, psychosocial stress, childhood adversity, urban environment, and immigrant [...] Read more.
Schizophrenia is a devastating mental illness with a strong genetic component that is the subject of extensive research. Despite the high heritability, it is well recognized that non-genetic factors such as certain infections, cannabis use, psychosocial stress, childhood adversity, urban environment, and immigrant status also play a role. Whenever genetic and non-genetic factors co-exist, interaction between the two is likely. This means that certain exposures would only be of consequence given a specific genetic makeup. Here, we provide a brief review of studies reporting evidence of such interactions, exploring genes and variants that moderate the effect of the environment to increase risk of developing psychosis. Discovering these interactions is crucial to our understanding of the pathogenesis of complex disorders. It can help in identifying individuals at high risk, in developing individualized treatments and prevention plans, and can influence clinical management. Full article
(This article belongs to the Special Issue The Relationship between Psychiatric Disorders and Genetics)
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