Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure
Conclusion: Although PARK2 may be a pathological factor for NDDs, likely not all variants are pathogenic, and a conclusive assessment of PARK2 variant pathogenicity requires an accurate analysis of their location within the coding region and encoded functional domains. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - February 20, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Summaries of plenary and selected symposia sessions at the XXIV World Congress of Psychiatric Genetics; Jerusalem, Israel; 30 October 2016–3 November 2016
The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Jerusalem, Israel, from 30 October 2016 to 3 November 2016. A total of 372 participants gathered to discuss the latest findings in the field. The following report was written by early career investigator travel awardees, and student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the presentations during the conference, and contains some of the major notable new findings reported. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - February 20, 2017 Category: Genetics & Stem Cells Tags: Review Article Source Type: research
Family-based genetic association study of CNTNAP2 polymorphisms and sociality endophenotypes in Korean patients with autism spectrum disorders
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 7, 2017 Category: Genetics & Stem Cells Tags: Brief Association Letter Source Type: research
Association between neuropeptide Y receptor Y2 promoter variant rs6857715 and major depressive disorder
Stress increases the risk for major depressive disorder (MDD), overeating, and alcohol dependence (AD). The neuropeptide Y system is one of the best-known modulators of the stress response, and some of its effects are mediated through the neuropeptide Y receptor Y2 (NPY2R). The functional NPY2R variant rs6857715 (C-599T) has been implicated in both obesity and AD, but with opposing alleles. The present study explored whether rs6857715 is also associated with MDD. Analysis of the overall sample (595 MDD cases; 1295 controls) showed an association with the AD risk allele C [P=0.020, odds ratio (OR) (C-allele)=1.18]. The asso...
Source: Psychiatric Genetics - January 7, 2017 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research
Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder
Conclusion: Our data support that recurrent genomic rearrangements at 22q13.3 are part of the genetic landscape of ASD in our patients and changes in SHANK3 dosage are associated with neurodevelopmental disorders. However, the clinical symptoms of patients with 22q13.3 rearrangements can vary depending on other genetic and nongenetic factors, not limited to genes involved in CNVs in this region. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Diagnostic Interview for Genetic Studies: validity and reliability of the Croatian version
Conclusion: Our study has shown excellent validity and reliability of the Croatian version of DIGS, making it a promising instrument to assess mental illness of patients. The development of a valid and reliable diagnostic tool such as the CRO-DIGS will considerably advance the scientific communities’ ability to carry out genetic studies of psychiatric illness in the region. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Neuroinflammatory genes associated with post-traumatic stress disorder: implications for comorbidity
Post-traumatic stress disorder (PTSD) is a debilitating condition that only occurs in the aftermath of traumatic event exposure and is characterized by an impaired stress response and chronic, low-grade inflammation. Dysregulation of the immune system may contribute towards central nervous system tissue damage and exacerbation of fear memories following trauma. Patients with PTSD often have comorbid psychiatric and somatic disorders that are of themselves associated with heightened inflammation. Several immune-related genes have been associated with PTSD and other co-occurring disorders. In this review, we propose that chr...
Source: Psychiatric Genetics - January 7, 2017 Category: Genetics & Stem Cells Tags: Review Article Source Type: research
Peter Propping 1942–2016
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Obituary Source Type: research
Irving Gottesman
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Obituary Source Type: research
Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder
To identify the underlying genetic cause of autism spectrum disorder (ASD), we performed whole-exome sequencing in 10 unrelated Thai patients with ASD. We identified a novel heterozygous missense variant (c.425C>G, p.Pro142Arg) in the Engrailed 2 (EN2) gene in two patients. The G variant has never been reported in public databases and was absent in 100 Thai patients with ASD and 435 Thai controls. A case–control study showed that the G allele of c.425C>G was significantly associated with ASD (Fisher’s exact test, P=0.0359). In addition, the new variant was predicted to be possibly damaging to the EN2 protein by the Pol...
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research
Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2
Duplications in 16p11.2 are a risk factor for schizophrenia (SCZ). Using genetically modified zebrafish, Golzio and colleagues identified KCTD13 within 16p11.2 as a major driver of the neuropsychiatric phenotype observed in humans. The aims of the present study were to explore the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. The exons of KCTD13 were sequenced in 576 patients. The mutations c.6G>T and c.598G>A were identified in one patient each. Both mutations were predicted to be functionally relevant and were absent from the 1000 Genomes P...
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research
Association between genes on chromosome 19p13.2 and panic disorder
We present further evidence that chromosome 19p13.2 may harbour candidate genes that contribute towards the risk of developing PD. Moreover, the implication of the associated genes in other mental disorders may indicate shared genetic susceptibility between mental disorders. We show that associated variants may be sex specific, indicating the importance of carrying out a sex-specific association analysis of PD. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research
Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders
Background: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD.
Patients and methods: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk. A neuro fuzzy model was developed to explore the genetic determinants of homocysteine. Meta-analyse...
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A meta-analysis of FZD3 gene polymorphisms and their association with schizophrenia
Conclusion: Given the different linkage disequilibrium patterns observed in Chinese populations, schizophrenia may be related to some other polymorphisms of gene FZD3 that are in stronger linkage disequilibrium to Chinese than to the other populations studied. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Investigating the genetic basis of attention to facial expressions: the role of the norepinephrine transporter gene
Conclusion: Our findings suggest that the NET gene modulates the individual difference in attention to facial expressions, which provides new insights into the roles of NE in social interactions. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
