Catechol-O-methyltransferase gene expression in stress-induced and non-stress induced schizophrenia
Conclusion This data supports that reduced blood catechol-O-methyltransferase expression, which may be associated with higher dopamine level, is involved both in stress-induced and non-stress–induced schizophrenia. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Schizophrenia in a genomic era: a review from the pathogenesis, genetic and environmental etiology to diagnosis and treatment insights
Schizophrenia is a common multigenic and debilitating neurological disorder characterized by chronic psychotic symptoms and psychosocial impairment. Complex interactions of genetics and environmental factors have been implicated in etiology of schizophrenia. There is no central pathophysiology mechanism, diagnostic neuropathology, or biological markers have been defined for schizophrenia. However, a number of different hypotheses including neurodevelopmental and neurochemical hypotheses have been proposed to explain the neuropathology of schizophrenia. This review provides an overview of pathogenesis, genetic and environme...
Source: Psychiatric Genetics - January 10, 2020 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing
Intellectual disability refers to significantly subaverage intellectual function (intelligence quotient (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin–Siris syndrome
ARID1B mutations in Coffin–Siris syndrome are a cause of intellectual disability (0.5–1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. We have investigated the visuospatial and neuromotor phenotype in eight patients with ARID1B mutations. A paramedian sagittal section of the brain MRI was selected, and corpus callosum was measured in anteroposterior length, genu and trunk width. Spearman’s ra...
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Association between RELN polymorphisms and schizophrenia in a Han population from Northeast China
Conclusion Our study provides and supports the evidence that RELN is a candidate gene for schizophrenia. Replication studies conducted in different populations are required, and the sex-specific association of this gene with schizophrenia warrants further exploration. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Association study of the PDE4D gene and obsessive-compulsive disorder in a Chinese Han population
Objective Multiple evidence suggests an involvement of the PDE4D in mental disorders. Therefore we investigate the association between obsessive-compulsive disorder and a polymorphism of the single nucleotide polymorphisms of PDE4D gene in the Chinese Han population. Methods We genotyped and performed a case-control association analysis of the PDE4D polymorphism rs1838733 in 400 obsessive-compulsive disorder patients and 459 healthy control subjects. Results The site conformed to Hardy–Weinberg (P> 0.05), three genotypes (AA, AG, GG) of PDE4D gene rs1838733 were detected. We demonstrated three principal results. ...
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Clinical association to FKBP5 rs1360780 in patients with depression
The FKBP5 protein is of importance for the function of the glucocorticoid receptor. The purpose of the present study was to examine the possible association between the different genotypes of rs1360780 in the FKBP5 gene, and clinical symptoms in patients with unipolar depression. Seven hundred eighteen patients and 673 controls from the Danish Psychiatric Biobank were participated. No association was found between any genotype and diagnosis of unipolar depression. It was found that the group of depressed patients with the CC genotype showed significantly earlier start of treatment with medicine, had a significantly greater...
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Endophenotypes of executive functions in obsessive compulsive disorder? A meta-analysis in unaffected relatives
Endophenotypes are mediator traits between genetic influences and clinical phenotypes. Meta-analyses have consistently shown modest impairments of executive functioning in obsessive compulsive disorder (OCD) patients compared to healthy controls. Similar deficits have also been reported in unaffected relatives of OCD patients, but have not been quantified. We conducted the first meta-analysis combining all studies investigating executive functioning in unaffected relatives of individuals with OCD to quantify any deficits. A search of Pubmed, Medline and PsychInfo databases identified 21 suitable papers comprising 707 unaff...
Source: Psychiatric Genetics - November 4, 2019 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Brain-derived neurotrophic factor and schizophrenia
The brain-derived neurotrophic factor (BDNF) is a secretory growth factor that promotes neuronal proliferation and survival, synaptic plasticity and long-term potentiation in the central nervous system. Brain-derived neurotrophic factor biosynthesis and secretion are chrono-topically regulated processes at the cellular level, accounting for specific localizations and functions. Given its role in regulating brain development and activity, BDNF represents a potentially relevant gene for schizophrenia, and indeed BDNF and its non-synonymous functional variant, rs6265 (C → T, Val → Met) have been widely studied in psychiat...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Gene knockout animal models of depression, anxiety and obsessive compulsive disorders
In the past decades, the improving knowledge of genes implicated in the pathogenesis of psychiatric disorders together with the advancements in genetic engineering has led to the creation of mice in which one or more genes are inactivated or ‘knocked out’. Knockout mice are extensively used to better investigate the molecular and cellular mechanisms underlying these diseases as well as the biological role of specific genes. Moreover, they are also useful tools for developing new therapeutic strategies. The success of using knockout mice is possible due to availability of several models used to mimic some clinical manif...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Genomics of human aggression: current state of genome-wide studies and an automated systematic review tool
There are substantial differences, or variation, between humans in aggression, with its molecular genetic basis mostly unknown. This review summarizes knowledge on the genetic contribution to variation in aggression with the following three foci: (1) a comprehensive overview of reviews on the genetics of human aggression, (2) a systematic review of genome-wide association studies (GWASs), and (3) an automated tool for the selection of literature based on supervised machine learning. The phenotype definition ‘aggression’ (or ‘aggressive behaviour’, or ‘aggression-related traits’) included anger, antisocial behav...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Offspring of parents with schizophrenia, bipolar disorder, and depression: a review of familial high-risk and molecular genetics studies
Offspring of parents with severe mental illness, including schizophrenia, bipolar disorder, and major depressive disorder, have a one-in-three risk of developing severe mental illness themselves. Over the last 60 years, three waves of familial high-risk studies examined the development of severe mental illness in offspring of affected parents. The first two waves established familial nature of schizophrenia, and demonstrated early impairment in offspring of affected parents. The most recent wave has added a focus on mood disorders and examined the transdiagnostic nature of familial risk. A synthesis of current knowledge on...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

The emerging pattern of shared polygenic architecture of psychiatric disorders, conceptual and methodological challenges
Genome-wide association studies have transformed psychiatric genetics and provided novel insights into the genetic etiology of psychiatric disorders. Two major discoveries have emerged; the disorders are polygenic, with a large number of common variants each with a small effect and many genetic variants influence more than one phenotype, suggesting shared genetic etiology. These concepts have the potential to revolutionize the current classification system with diagnostic categories and facilitate development of better treatments. However, to reach clinical impact, we need larger samples and better analytical tools, as mos...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

New insights and perspectives on the genetics of obsessive-compulsive disorder
Psychiatric genetic research has exploded in search of polygenic risk factors over the past decade, but because of the complexity and heterogeneity of mental illnesses, using the current understanding of the genome has not reached the conclusion of finding a cause for psychiatric disorders. Obsessive-compulsive disorder is a relatively common and often debilitating neuropsychiatric disorder that has not been the primary focus in psychiatric research. Clinicians and researchers who have dedicated to investigate the genetics of obsessive-compulsive disorder have detected a strong genetic involvement. This review will provide...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research

Zinc finger proteins in psychiatric disorders and response to psychotropic medications
Zinc finger proteins are a large family of abundantly expressed small motifs that play a crucial role in a wide range of physiological and pathophysiological mechanisms. Findings published so far support an involvement of zinc fingers in psychiatric disorders. Most of the evidence has been provided for the zinc finger protein 804A (ZNF804A) gene, which has been suggested to be implicated in schizophrenia and bipolar disorder. This evidence has been corroborated by a wide range of functional studies showing that ZNF804A regulates the expression of genes involved in cell adhesion and plays a crucial role in neurite formation...
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Review Articles Source Type: research