[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.

[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).

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.

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.

[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.

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.

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.

Impact on the Risk and Severity of Childhood Onset Schizophrenia of Schizophrenia Risk Genetic Variants at the DRD2 and ZNF804A Loci.

The study explored whether schizophrenia risk alleles of the DRD2 rs2514218 and ZNF804A rs1344706 polymorphisms also influenced the risk and severity of childhood-onset schizophrenia (COS) and differentiated it from autism spectrum disorders (ASD). We compared 75 children with COS to 75 children with ASD, 150 patients with adult-onset schizophrenia and 150 healthy individuals. Frequency of the DRD2 T-allele, assumed to be protective against schizophrenia overall, was higher in COS compared to adult-onset schizophrenia and healthy controls.

[Prognosis of the functional outcome of schizophrenia using a multigene panel].

Objective: To compare the groups of schizophrenic patients with different levels of functional outcome and different frequency of risk variants in polymorphic loci of five candidate genes to create a multigene panel and to test its predictive ability for long-term outcome of the disease.

Material And Methods: According to the proposed typology, the patients included in the studies were divided into three groups, which differed in the level of social functioning. Group 1 was characterized by the highest level, in group 2 this indicator was significantly lower, and in group 3 the lowest.

Characterisation of Neurospheres-Derived Cells from Human Olfactory Epithelium.

A major problem in psychiatric research is a deficit of relevant cell material of neuronal origin, especially in large quantities from living individuals. One of the promising options is cells from the olfactory neuroepithelium, which contains neuronal progenitors that ensure the regeneration of olfactory receptors. These cells are easy to obtain with nasal biopsies and it is possible to grow and cultivate them in vitro.

[Structure of schizotypal traits in the Russian population].

Establishing the structure of schizotypal traits and its cross-cultural and demographic universality is an important condition for increasing the effectiveness of prognosis of schizophrenic spectrum disorders and basic research on their etiology. The present study aimed to explore the structure of schizotypal traits measured by the Schizotypal Personality Questionnaire (SPQ-74) in the Russian population. Exploratory and confirmatory factor analyses of the factor structure of SPQ-74 were performed using a sample of 1316 people of a wide age range.

Copy number variations of satellite III (1q12) and ribosomal repeats in health and schizophrenia.

Objective: Earlier we studied the copy number variations (CNVs) of ribosomal repeat (rDNA) and the satellite III fragment (1q12) (f-SatIII) in the cells of schizophrenia patients (SZ) and healthy controls (HC). In the present study we pursued two main objectives: (1) to confirm the increased rDNA and decreased f-SatIII content in the genomes of enlarged SZ and HC samples and (2) to compare the rDNA and f-SatIII content in the same DNA samples of SZ and HC individuals.

Methods: We determined the rDNA CN and f-SatIII content in the genomes of leukocytes of 1770 subjects [HC (N = 814) and SZ (N = 956)].

Effect of the C-reactive protein gene on risk and clinical characteristics of schizophrenia in winter-born individuals.

C-reactive protein (CRP) levels are elevated in a subset of schizophrenia patients and correlated with more severe symptoms, which makes CRP a potential theranostic biomarker for the disease. However, genotypes associated with higher CRP concentrations have the protective effect against schizophrenia. To resolve this discrepancy, more research on the role of CRP in schizophrenia is needed.

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a new sample of 613 schizophrenia trios and combined this with published data to give a total of 3,444 trios. In this new data, loss-of-function (LoF) DNVs were significantly enriched among 3,471 LoF-intolerant genes, which supports previous findings.

Copy Number Variation of Satellite III (1q12) in Patients With Schizophrenia.

It was shown that copy number variations (CNVs) of human satellite III (1q12) fragment (f-SatIII) reflects the human cells response to stress of different nature and intensity. Patients with schizophrenia (SZ) experience chronic stress. The major research question: What is the f-SatIII CNVs in human leukocyte as a function of SZ? Biotinylated pUC1.

Data on association of the variation (rs1344706) in the ZNF804A gene with schizophrenia and its symptoms in the Russian population.

The polymorphism rs1344706 in the gene is one of the best-supported risk variants for schizophrenia. The association between rs1344706 and the disease was demonstrated in many studies but only few of them investigated large samples (above 2000 patients and controls). Data presented show the genotypic distribution of rs1344706 in 1265 patients with schizophrenia and 1051 healthy controls from the Russian population.

[Genetic variations associated with premorbid personality in patients with schizophrenia].

Aim: To search for genetic variants associated with premorbid personality in patients with schizophrenia.

Material And Methods: The sample included 272 men diagnosed with schizophrenia or schizoaffective disorder. Patients were divided into 3 groups based on premorbid personality difficulties: mild (group 1, n=110), moderate (group 2, n=113), marked (group 3, n=49).

Effects of a GWAS-Supported Schizophrenia Variant in the DRD2 Locus on Disease Risk, Anhedonia, and Prefrontal Cortical Thickness.

The study aimed to confirm the association of the schizophrenia genome-wide association study (GWAS) hit rs2514218 located near the DRD2 gene with the risk of the disease and to investigate the relationships between rs2514218 and schizophrenia-related clinical and neuroimaging phenotypes. Genotypes at the rs2514218 site were determined for 2148 schizophrenia spectrum patients and 1273 control subjects from the Russian population. In subsets of subjects, we assessed symptomatic dimensions using the Positive and Negative Syndrome Scale (n = 1651) and Temporal Experience of Pleasure Scale (n = 471).

Correction to: Prediction of smoking by multiplex bisulfite PCR with long amplicons considering allele-specific effects on DNA methylation.

Upon publication of the original article [1], it was noticed that the Figure captions of Figs. 2 and 3 were incorrectly given. The correct Figure captions are given below.

Prediction of smoking by multiplex bisulfite PCR with long amplicons considering allele-specific effects on DNA methylation.

Background: Methylation of DNA is associated with a variety of biological processes. With whole-genome studies of DNA methylation, it became possible to determine a set of genomic sites where DNA methylation is associated with a specific phenotype. A method is needed that allows detailed follow-up studies of the sites, including taking into account genetic information.

[The interaction effect of ANKK1/DRD2 TaqIA and HTR2C Cys23Ser on approach motivation in schizophrenic patients and normals].

Aim: To evaluate the association of the DRD2 gene and DRD2 x HTR2C interaction with hedonic and activational aspects of approach motivation in schizophrenia.

Material And Methods: Genotypes at polymorphic loci DRD2 rs1800497 and HTR2C rs6318 (Cys23Ser) were identified in a sample that included 174 patients with schizophrenic spectrum disorders and 268 healthy subjects without a family history of psychoses. The participants completed the BIS/BAS and Temporal Experience of Pleasure Scale (TEPS).

The Dopamine Receptor D2 C957T Polymorphism Modulates Early Components of Event-Related Potentials in Visual Word Recognition Task.

Background: Visual word recognition is one of the central topics in cognitive psychology and cognitive neuroscience. Genetic factors are known to contribute to the visual word recognition, but no genes associated with this process have been identified so far. We studied the impact of the DRD2 C957T polymorphism on the efficiency of visual word recognition by measuring its neuronal correlates and behavioral parameters.