Brain differential gene expression and blood cross-validation of a molecular signature of patients with major depressive disorder
Conclusion A 23 gene expression marker was able to distinguish subjects with MDD from HC, with adequate reproducibility and low robustness in the independent databases investigated. This gene set was similarly expressed in the brain and blood and involved genes related to stress and immune response. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach
Conclusion These significant findings provide further evidence for genetic factors’ implication in ASDs offering new perspectives in means of prevention and prognosis. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - May 17, 2022 Category: Genetics & Stem Cells Tags: Review article Source Type: research

Morphine may have a role in telomere shortening
This article reports two sets of data; comparison of relative telomere length between heroin-dependent patients and healthy control group, as well as, investigation of the effect of morphine on the relative telomere length of human SH-SY5Y cells treated by morphine. Study participants were composed of 163 heroin-dependent patients and 166 unrelated healthy controls. SH-SY5Y cells were treated with (5 μM) morphine hydrochloride and incubated for 40 and 60 days. The relative telomere length was calculated as the T/S (telomere/single-copy gene) ratio using 36B4 as a reference for each sample, using quantitative real-time...
Source: Psychiatric Genetics - April 1, 2022 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Stimulant intolerance in children with Angelman syndrome with hyperactivity: a case series
Conclusion The findings of this study suggest that stimulant medications may be ineffective and poorly tolerated in children with Angelman syndrome. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 1, 2022 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women
Conclusions Polymorphism of rs12966547 on the long noncoding RNA LOC10537215 are a shared genetic variant of schizophrenia and bipolar disorder in Han Chinese women. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 1, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Effects of CYP2C19*17 genetic polymorphisms on plasma and saliva concentrations of diazepam in patients with alcohol withdrawal syndrome
Conclusion Our study showed the effects of CYP2C19*17 genetic polymorphisms on the efficacy and safety rates of diazepam. Furthermore, we revealed the statistically significant differences in plasma and saliva concentration levels of diazepam in patients carrying different genotypes. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 1, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Genetics of social anxiety disorder: a systematic review
Social anxiety disorder (SAD) is a common psychiatric disorder, often associated with avoidant temperament. Research studies have implicated a strong genetic architecture of SAD. We have conducted a systematic review on the genetics of SAD and yielded 66 articles. In general, prior research studies have focused on the serotonin transporter, oxytocin receptor, brain-derived neurotrophic factor and catechol-O-methyltransferase genes. Mixed and inconsistent results have been reported. Additional approaches and phenotypes have also been investigated, including pharmacogenetics of treatment response, imaging genetics and gene-e...
Source: Psychiatric Genetics - April 1, 2022 Category: Genetics & Stem Cells Tags: Review Source Type: research

Telomere length and telomerase activity of leukocytes as biomarkers of selective serotonin reuptake inhibitor responses in patients with major depressive disorder
We analyze the leukocyte telomere length (LTL) and telomerase activity in patients with major depressive disorder (MDD) before and after treatment with selective serotonin reuptake inhibitors (SSRIs). Before treatment, there was a reduction in the LTLs and expression levels of the human telomerase reverse transcriptase (hTERT) in the patients with MDD compared with controls. However, after 24 weeks of treatment with SSRIs, there was a significant increase in the LTLs and the expression levels of hTERT, with values approaching those observed in the controls. We conclude that SSRI antidepressant therapy can directly influenc...
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Co-existing bipolar disease and 17q12 deletion: a rare case report
Conclusion Although 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Evaluation of hsa-let-7d-5p, hsa-let-7g-5p and hsa-miR-15b-5p plasma levels in patients with Alzheimer’s disease
Conclusion Our findings suggest the potential of measuring the transcript levels of hsa-let7d-5p and hsa-let7g-5p miRNAs as a diagnostic biomarker for AD. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Exploring the utility of current polygenic scores in capturing resilience
Although resilience has been identified to be moderately heritable, little is known about the genetic variants involved. While there has not yet been a robust genome-wide association study (GWAS) of resilience, existing GWAS of related phenotypes may provide a starting point for developing our understanding of the heritability of resilience. In a sample of older, US adults (N = 9480), we examined the extent to which proxy polygenic scores (PGS) explained the variance in resilience. Four of the 32 PGS assessed (subjective wellbeing, neuroticism, depressive symptoms and educational attainment) reached significance among ...
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms
In this study, we examined the effect of 5-HTTLPR polymorphism on prenatal and postnatal symptoms of depression and posttraumatic stress in women. Methods A longitudinal design with three points – time 1 (32–40 weeks gestation); time 2 (2 or 3 weeks after birth), and time 3 (3 months after birth) – was made. A total of 141 women were recruited during childbirth preparation courses. At time 1, women completed the Beck Depression Inventory (BDI) and the Los Angeles Symptoms Checklist (LASC). At time 2, they fulfilled BDI and Edinburgh Postnatal Depression Scale (EDPS), LASC and the Perinatal Posttraumatic st...
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

A scoping review and comparison of approaches for measuring genetic heterogeneity in psychiatric disorders
An improved understanding of genetic etiological heterogeneity in a psychiatric condition may help us (a) isolate a neurophysiological ‘final common pathway’ by identifying its upstream genetic origins and (b) facilitate characterization of the condition’s phenotypic variation. This review aims to identify existing genetic heterogeneity measurements in the psychiatric literature and provides a conceptual review of their mechanisms, limitations, and assumptions. The Scopus database was searched for studies that quantified genetic heterogeneity or correlation of psychiatric phenotypes with human genetic data. Ninety st...
Source: Psychiatric Genetics - January 17, 2022 Category: Genetics & Stem Cells Tags: Review Source Type: research

Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication
Etiopathogenesis of autism spectrum disorder (ASD) is highly heterogeneous. Genetic factors play a major role in the etiology of ASD, and 16p11.2 microdeletion is one of the best-known genetic abnormalities thought to be strongly linked to ASD. Conversely, 17q12 microduplication is observed relatively rarely, yet it is reported that 17q12 recurrent duplication also results in a predisposition to ASD. Additionally, 16p11.2 microdeletion is characterized by developmental delay, intellectual disability, ASD and seizures, while 17q12 recurrent duplication is thought to be related to intellectual disability, seizures, eye or vi...
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Conclusion The CNVs reported here involve regions not usually disrupted in patients with NDDs with two of them affecting only the expression of the long isoforms. Further studies will be needed to analyze the impact of these CNVs on gene expression regulation and to better understand their impact on the protein function. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - December 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research