[A role of transcription factors in pathogenic processes associated with schizophrenia].

Schizophrenia is a severe mental illness, the etiology and pathogenesis of which are significantly contributed by hereditary factors. Genome-wide association analysis shows that the majority of genetic variants associated with a high risk of schizophrenia are located in regulatory regions of genes. In this brief review, data on the overall structure of the major regulatory regions of genes are summarized.

[Polymorphic variants in the cluster of genes encoding trace amine receptors and cognitive functioning in patients with schizophrenia spectrum disorders and healthy controls].

Objective: To evaluate the association of polymorphisms in the gene cluster on chromosome 6 with cognitive functions in patients with schizophrenia spectrum disorders and healthy controls.

Material And Methods: Patients with schizophrenia spectrum disorders (=216) and healthy people without a family history of mental disorders (=240) completed a battery of cognitive tests, from which individual indices of cognitive functioning were derived. Associations of the cognitive index with 22 polymorphisms in the genes were assessed using ANCOVA controlling for sex, age, genetic structure of the sample, and polygenic risk scores of schizophrenia and intelligence.

ASCL1 Is Involved in the Pathogenesis of Schizophrenia by Regulation of Genes Related to Cell Proliferation, Neuronal Signature Formation, and Neuroplasticity.

Schizophrenia (SZ) is a common psychiatric neurodevelopmental disorder with a complex genetic architecture. Genome-wide association studies indicate the involvement of several transcription factors, including ASCL1, in the pathogenesis of SZ. We aimed to identify ASCL1-dependent cellular and molecular mechanisms associated with SZ.

[Effects of oxytocin pathway gene polymorphisms and adverse childhood experiences on emotion recognition in schizophrenia spectrum disorders].

Objective: To study a role of the interaction of oxytocin pathway gene polymorphisms and adverse childhood experiences (ACE) in facial emotion recognition (FER) deficits in schizophrenia.

Material And Methods: Patients with schizophrenia spectrum disorders (699) completed cognitive testing, which included a FER task. We determined patients' genotypes for common polymorphisms in three of the oxytocin pathway genes which were previously associated with face perception: (rs53576, rs7632287), (rs3796863) and (rs4778599).

Different iPSC-derived neural stem cells shows various spectrums of spontaneous differentiation during long term cultivation.

Introduction: Culturing of human neural stem cells (NSCs) derived from induced pluripotent stem cells (iPSC) is a promising area of research, as these cells have the potential to treat a wide range of neurological, neurodegenerative and psychiatric diseases. However, the development of optimal protocols for the production and long-term culturing of NSCs remains a challenge. One of the most important aspects of this problem is to determine the stability of NSCs during long-term in vitro passaging.

[Genome-wide studies of comorbidity of somatic and mental diseases].

Studies of the genomic architecture of complex phenotypes, which include common somatic and mental diseases, have shown that they are characterized by a high degree of polygenicity, i.e. participation of a large number of genes associated with the risk of developing these diseases.

[Immune mechanisms of complicity of somatic pathology in the pathogenesis of mental disorders].

Understanding the mechanisms of the relationship between the nervous and immune systems within the framework of the concept of the key role of inflammation, taking into account the involved genetic factors in the development of a wide range of combined forms of somatic and mental diseases, is of interest for research as well as for the development of new approaches to early diagnosis and more effective treatment of these diseases. This review analyzes the immune mechanisms of the development of mental disorders in patients with somatic diseases, in particular, the transmission of an inflammatory signal from the periphery to the CNS and the implementation of the influence of inflammatory factors on neurochemical systems that determine the characteristics of mental functioning. Particular attention is paid to the processes underlying the disruption of the blood-brain barrier caused by peripheral inflammation.

A study of the association between polymorphisms in the genes for interleukins IL-6 and IL-10 and negative symptoms subdomains in schizophrenia.

Background: Schizophrenia is a severe mental illness manifested by various symptoms. Negative symptoms (NS) are associated with disability and poor function of patients. The study of NS neurobiology is complicated by their heterogeneity.

[Cellular and supracellular models in the study of molecular mechanisms associated with schizophrenia].

Schizophrenia is a severe mental illness, in the etiology and pathogenesis of which hereditary factors make a significant contribution. Studies of the genetic causes of schizophrenia are conducted using a variety of models. This brief review introduces the reader to cellular and supracellular models that, because of their simplicity, low cost, and low labor intensity, help to effectively investigate the complex molecular mechanisms associated with schizophrenia.

A comparative study of theory of mind in taxon-like clusters of psychometric schizotypes and individuals at genetic risk for schizophrenia.

Clinical and family studies suggest that alterations of theory of mind (ToM) represent a marker of genetic liability to schizophrenia. Findings regarding ToM in schizotypy are less consistent. The study aimed to explore whether this might be due to an insufficient account of the heterogeneity of schizotypy in prior research and/or the fact that in psychometric schizotypy ToM alterations could manifest as subtle peculiarities rather than overt errors of mentalising.

A Role of DNA Methylation within the CYP17A1 Gene in the Association of Genetic and Environmental Risk Factors with Stress-Related Manifestations of Schizophrenia.

As genetic and environmental influences on schizophrenia might converge on DNA methylation (DNAm) within loci which are both associated with the disease and implicated in response to environmental stress, we examined whether DNAm within , a hypothalamus-pituitary-adrenal axis gene which is situated within the schizophrenia risk locus 10q24.32, would mediate genetic and environmental effects on stress-related schizophrenia symptoms. DNAm within an exonic-intronic fragment of was assessed in the blood of 66 schizophrenia patients and 63 controls using single-molecule real-time bisulfite sequencing.

[Molecular-genetic and immunological aspects of the formation of psychopathological symptoms in schizophrenia].

The authors present the data indicating that the formation of psychopathological symptoms of schizophrenia is due to complex and diverse genetic factors associated with various functional and metabolic pathways at different stages of ontogenesis. Despite the fact that at present the genetic basis of positive and negative symptoms as the main pathophysiological manifestations of schizophrenia remains largely unknown, the current level of research allows the identification of some common and unique associations for positive and negative disorders. Based on the analysis of the literature, the specificity of the association of genetic variants with negative symptoms of schizophrenia is shown.

[Genetic polymorphism of cytokines IL-1β, IL-4 and TNF-α as a factor modifying the impact of childhood adversity on schizophrenia symptoms].

Objective: Based on the hypothesis that activation of the immune system is one of the mechanisms of influence of early environmental factors on the onset and course of schizophrenia, we investigated the effects of the interaction of childhood adversity and rs16944, rs2243250 and rs1800629 polymorphisms on schizophrenia symptomatology.

Material And Methods: The sample consisted of 546 patients with schizophrenia spectrum disorders. The presence of childhood adversity was determined based on the analysis of medical records and a questionnaire completed by the patient.

[Genotype - phenotype relationships in view of recent advances in the understanding of genetic causes of schizophrenia].

Genotype - phenotype relationships are considered in view of recent advances in our understanding of genome structure. Different DNA elements can contribute to phenotype formation. Genotype - phenotype relationships are mediated by epigenetic effects that can have various origins - from the most studied to date methylation of certain sites in the genome to only developing ideas about the role of remote regulatory genomic elements in the development of schizophrenia.

[Contemporary GWAS studies of depression: the critical role of phenotyping].

The need to use large samples to identify the genetic risk loci of mental disorders has led us to the dilemma of phenotyping quality. Especially this problem relates to such common mental disorders as depression (lifetime prevalence 16.2%).

Dataset on negative symptoms factors in patients with schizophrenia.

Schizophrenia is a severe mental disorder characterized by positive and negative symptoms. The negative symptoms are highly relevant to the disease course and outcome. Because negative symptoms show considerable heterogeneity, there is substantial interest in elucidating the negative symptom domains that are characteristic of patient subgroups.

[Associations between the oxytocinergic system genes, perinatal complications and interpersonal relationships in patients with schizophrenia].

Objective: To search for the associations between genes of the oxytocinergic pathway and psychosocial functioning in schizophrenia, namely, the ability of schizophrenic patients to form interpersonal relationships, taking into account the influence of such an environmental factor as perinatal complications.

Material And Methods: The study included 383 people (140 women and 243 men, mean age 32.6±11.

Bench Research Informed by GWAS Results.

Scientifically interesting as well as practically important phenotypes often belong to the realm of complex traits. To the extent that these traits are hereditary, they are usually 'highly polygenic'. The study of such traits presents a challenge for researchers, as the complex genetic architecture of such traits makes it nearly impossible to utilise many of the usual methods of reverse genetics, which often focus on specific genes.

Treatment Response and GWAS Risk Allele rs2514218 (C) of the Dopamine D2 Receptor Gene in Inpatients with Schizophrenia.

Introduction: The pathophysiological mechanisms of acute schizophrenia are largely unknown, but it is widely accepted that dopamine D2 receptors (DRD2s) are involved in psychosis treatments for schizophrenic patients. We suggest that genetic variation in these receptors may play a role in patients' responses to commonly used antipsychotics, particularly D2-blockers.

Methods: This study included adult patients with ICD-10 diagnoses of schizophrenia and current acute psychosis who were treated with antipsychotics.