Psychiatric Genetics, where we have been and where we are going
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - September 5, 2019 Category: Genetics & Stem Cells Tags: Editorial Source Type: research

Decreased serum complement component 4 levels in patients with schizophrenia
This study investigated the association between the level of serum component 4 and schizophrenia. Data were derived from a case-control association study of 40 unrelated adult patients with schizophrenia and 40 matched healthy controls. The component 4 level in serum was measured for comparative analysis by a component 4 enzyme-linked immunosorbent assay kit. Our findings suggest that the serum component 4 level is lower in patients with schizophrenia than in the controls, and the results apply to both males and females. Our results will lay an important foundation for establishing diagnostic methods and provide feasible a...
Source: Psychiatric Genetics - June 27, 2019 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Common variants in SATB2 are associated with schizophrenia in Uygur Chinese population
Conclusion Our results suggest that SATB2 is also a susceptibility gene for schizophrenia in Uygur Chinese population, and subsequent functional experiments are necessary to reveal its role in the pathogenesis. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - June 27, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Determining population stratification and subgroup effects in association studies of rare genetic variants for nicotine dependence
Background Rare variants (minor allele frequency (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - June 27, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Anorexia nervosa is associated with Neuronatin variants
Conclusion Our data suggest that NNAT variants and NNAT expression changes may be associated with susceptibility to eating disorders such as anorexia nervosa. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - June 27, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

The interaction between estradiol change and the serotonin transporter gene (5-HTTLPR) polymorphism is associated with postpartum depressive symptoms
Although estrogenic fluctuation is considered a major risk factor for postpartum depression (PPD), the effects of the interactions between the genetic background and estradiol (E2) change on PPD are not well understood. Here, a cohort study with 437 postpartum women was carried out to evaluate the role of a serotonin transporter gene polymorphism (5-HTTLPR) and E2 change on the risk of PPD symptoms. The participants were assessed using the Edinburgh Postnatal Depression Scale and the Self-Rating Depression Scale at 1 and 6 weeks after delivery. The PCR-based restriction fragment length polymorphism method was utilized to e...
Source: Psychiatric Genetics - June 27, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

In memoriam: Ting-Kai Li (1934–2018)
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 19, 2019 Category: Genetics & Stem Cells Tags: Commentary Source Type: research

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum
We report on a 38-year-old patient with adult-onset psychotic symptoms on a background of infantile-onset seizures, autistic features and episodic ataxia. Whole-exome sequencing revealed a de-novo novel SCN2A mutation (c.4966T > C, p.Ser1656Pro). This and other SCN2A mutations associated with the schizophrenia phenotype overlap those seen in neurodevelopmental disorders, suggesting a common underlying mechanism. This is the first report of a patient with the entire known SCN2A phenotypic spectrum. We highlight the importance of recognizing the psychiatric phenotypes associated with SCN2A mutations and that the phenotyp...
Source: Psychiatric Genetics - April 19, 2019 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel ~ 270 kb interstitial microduplication, localized at the distal portion of the 4q13.1 region. The rearrangement was inherited from a mild symptomatic father and included a large part of the single EPHA5 gene, a receptor tyrosine kinase involved in the neural development, already indicated to be linked to ASD by previous Genome Wide Association Studies. This imbalance represents, to the best of our knowledge, the smallest duplication identified to date that only impacts the EPHA5 gene. We hypothesize that the d...
Source: Psychiatric Genetics - April 19, 2019 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Association of polymorphisms in HTR2A, TPH1, and TPH2 genes with attempted suicide in rural China
Conclusion This study did not support the effect of these seven serotonergic gene polymorphisms on attempted suicide in rural China. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - April 19, 2019 Category: Genetics & Stem Cells Tags: Original Article Source Type: research

Genetic risk factors and gene–environment interactions in adult and childhood attention-deficit/hyperactivity disorder
Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder. In recent years, genetic studies have revealed several risk gene variants associated with ADHD; however, these variants could only be partly replicated and are responsible for only a fraction of the whole heritability of ADHD estimated from family and twin studies. One factor that could potentially explain the ‘missing heritability’ of ADHD is that childhood and adult or persistent ADHD could be genetically distinct subtypes, which therefore need to be analyzed separately. Another approach to identify this miss...
Source: Psychiatric Genetics - April 19, 2019 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the: PCNT: gene and schizophrenia
In this report, we discuss the possible association between the PCNT gene and schizophrenia. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - March 7, 2019 Category: Genetics & Stem Cells Tags: BRIEF REPORT Source Type: research

Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - March 7, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research

In-silico investigation of coding variants potentially affecting the functioning of the glutamatergic N-methyl-D-aspartate receptor in schizophrenia
Conclusion The numbers of variants involved are too small for firm conclusions to be drawn. The results are consistent with the hypothesis that ∼0.5% of patients with schizophrenia have disruptive or damaging genetic variants, which could plausibly impair functioning of NMDAR directly or indirectly through impairing Fyn function. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - March 7, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research

Familial association of attention-deficit hyperactivity disorder with autoimmune diseases in the population of Sweden
Conclusion Familial associations with several autoimmune diseases suggest genetic sharing and challenge to gene identification. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - March 7, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research