Treatment-resistant manic episode in a patient diagnosed with bipolar affective disorder
A considerable group of patients suffering from mental health disorders do not respond adequately to pharmacological treatment. For the purposes of precision and personalized medicine, pharmacogenomics has been developed as a valuable and promising tool. The technology of identifying single nucleotide polymorphisms and genotyping supplies clinicians, and therefore their patients, with the opportunity of avoiding long-lasting ‘trial and error’ periods, reducing the risk of manifesting disturbing adverse effects during treatment. Consequently, better adherence to treatment and clinical response can be achieved, contribut...
Source: Psychiatric Genetics - November 16, 2022 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research
Mendelian randomization study on the effect of tumor necrosis factor on schizophrenia
Conclusions
Our analysis suggested a causal association between genetically increased TNF signaling and increased risk of schizophrenia in the European population. Thus, TNF may be a potential risk for schizophrenia. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - November 16, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Mapping, clustering, and analysis of research in psychiatric genomics
Discussion
‘Schizophrenia’, ‘depression’, ‘pharmacogenomics’, and ‘immunopathogenesis’ were the research topics of overarching interest. ‘Gut-brain axis’ and ‘gene-environment interaction’ were the emerging topics, whereas certain topics such as ‘child and adolescent psychiatry’ remained priorities when compared to earlier studies. The keywords and research focus were diverse. They ranged from genetics to transcriptomics and epigenetics to proteomics of psychiatric disorders. We found a stagnation of science communication in the field with only 0.2% of the articles from the entire corpus rel...
Source: Psychiatric Genetics - November 16, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genome-wide methylation analysis of early-onset schizophrenia
Conclusion
Studies on DNA methylation in the first-episode psychosis population may help further our understanding of the role of epigenetics in the age of onset of SCZ. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - November 16, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Applications of Mendelian randomization in psychiatry: a comprehensive systematic review
We report the first systematic review of all existing applications and findings of MR in psychiatric disorders, aiming at facilitating the identification of risk factors that may be common to different psychiatric diseases, and paving the way to transdiagnostic MR studies in psychiatry, which are currently lacking. We searched Web of Knowledge, Scopus, and Pubmed databases (until 3 May 2022) for articles on MR in psychiatry. The protocol was preregistered in PROSPERO (CRD42021285647). We included methodological details and results from 50 articles, mainly on schizophrenia, major depression, autism spectrum disorders, and b...
Source: Psychiatric Genetics - November 16, 2022 Category: Genetics & Stem Cells Tags: Review Article Source Type: research
Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for ...
Source: Psychiatric Genetics - September 30, 2022 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research
Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population
Conclusion
In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - September 30, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
In-depth investigations of the molecular basis underlying sex differences among middle-aged and elderly schizophrenia populations
Sex can influence almost all aspects of schizophrenia. However, the molecular mechanisms underlying sex differences in schizophrenia remain poorly understood. In this project, the dataset GSE107638 containing neuronal RNA-seq data and age/sex information of individuals with or without schizophrenia were retrieved. Schizophrenia samples were divided into young male (M-1), young female (F-1), middle-aged and elderly male (M-2) and middle-aged and elderly female (F-2) groups. Next, green/yellow/turquoise modules related to the M-2 trait and turquoise module correlated with the F-2 trait were identified by weighted correlation...
Source: Psychiatric Genetics - September 30, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
Conclusion:
Our study provides evidence for pathogenic CNV hotspots within the chromosome 2q12.3-q13 region. We suggest CNV classification based on the affected interval and the involvement of potential dosage-sensitive genes in these patients. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - September 30, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genetic determinants associated with response to clozapine in schizophrenia: an umbrella review
Conclusions
Conclusive evidence for associations between genetic variants and clozapine response is still lacking. Hypothesis-generating genetic studies in large, well-characterized study populations are urgently needed to obtain more consistent and clinically informative results. Future studies may also include multi-omics approaches to identify novel genetic determinants associated with clozapine response. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - September 30, 2022 Category: Genetics & Stem Cells Tags: Review Article Source Type: research
Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis
Conclusion
Carriers of PTVs did not appear to have subclinical manifestations of schizophrenia. Although PTVs in these genes can substantially increase schizophrenia risk, their effect seems to be dichotomous and most carriers appear psychiatrically well. This research has been conducted using the UK Biobank Resource. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - July 21, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Variants of Th17 pathway-related genes influence brain morphometric changes and the risk of schizophrenia through epistatic interactions
Objective
T helper 17 (Th17) pathway has been reported to be abnormal in schizophrenia; however, it is not known whether variation within genes of this pathway has any impact on schizophrenia. Herein, the impact of genetic variations and gene–gene interactions of Th17 pathway-related genes on the risk, psychopathology, and brain volume was examined in schizophrenia patients.
Methods
Functional polymorphisms within interleukin 6 (IL6)(rs1800795 and rs1800797), IL10 (rs1800872 and rs1800896), IL17A (rs2275913 and rs8193036), IL22 (rs2227484 and rs2227485), IL23R (rs1884444), and IL27 (rs153109 and rs181206) gene...
Source: Psychiatric Genetics - July 21, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genome-wide DNA methylation profiles of autism spectrum disorder
Conclusions
Identified differentially methylated genes and enriched signaling pathway could be associated with ASD. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - July 21, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia
Conclusion
Our findings support the idea that besides CNV, rare pathogenic SNVs of VIPR2 might contribute to the pathogenesis of schizophrenia in some patients. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Psycho-cognitive assessment and quality of life in older adults with chronic obstructive pulmonary disease-carrying the rs4713916 gene polymorphism (G/A) of gene FKBP5 and response to pulmonary rehabilitation: a proof of concept study
Conclusion
These results offer valuable insights into the role of FKBP5 in the complex network of mechanisms associated to clinical, psychological and behavioral features of COPD patients. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
