The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966
Patients with behavioral variant frontotemporal dementia (bvFTD) have many psychotic symptoms, especially at the onset of the disease. The C9ORF72 expansion is the most common genetic etiology observed with bvFTD and the prevalence of the expansion is notably high among Finnish bvFTD patients. The aim of this study was to evaluate the prevalence of the C9ORF72 expansion among the clearly characterized patients with psychosis, mainly schizophrenia, in early midlife. The C9ORF72 repeat sizes were analyzed in 130 (48% women) patients with psychosis from the Northern Finland Birth Cohort 1966 (N=11 017), the mean onset age b...
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Meta-analysis of the association between a serotonin transporter 5-HTTLPR polymorphism and smoking cessation
5-HTTLPR is one of the candidate genes influencing addiction. Recent studies have reported that the 5-HTTLPR genotype is associated with smoking behaviour, but its influence is still controversial. Thus, we reviewed the smoking-cessation outcomes among previously reported studies by comparing the 5-HTTLPR polymorphism. In total, eight studies including 3206 participants for the present meta-analysis were assessed and the S/S, S/L and L/L genotypes were compared with respect to smoking-cessation outcomes. The results of comparing 5-HTTLPR genotypes were as follows: odds ratio (OR)=1.044 and 95% confidence interval (CI)=0.75...
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Lack of association of SNPs from the FADS1-FADS2 gene cluster with major depression or suicidal behavior
Fatty acid desaturase genes (FADS1-FADS2) encode desaturases participating in the biosynthesis of long-chain polyunsaturated fatty acids. As long-chain polyunsaturated fatty acids are implicated in major depressive disorder (MDD) and suicide risk, and as both are partly heritable, we studied the association of FADS1-FADS2 polymorphisms with MDD (635 cases, 480 controls) and suicide attempt status (291 attempters, 344 MDD nonattempters). Eighteen FADS-related single-nucleotide polymorphisms were genotyped from Caucasians enrolled in Madrid (n=791) or New York City (n=324) and entered as predictors into logistic regression a...
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Parents’ attitudes toward genetic research in autism spectrum disorder
Conclusion: Parents of children with ASD have, in general, a very positive attitude toward genetic research. Data confidentiality is important, and they express a need for information on the purpose and progress of the research. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability
In this study, a hemizygous c.786C>G:p.Ile262Met in the testis specific protein Y-encoded-like 2 (TSPYL2) gene and a homozygous c.11335G>A:p.Asp3779Asn in the low-density lipoprotein receptor-related protein 2 (LRP2) gene were detected after genome-wide genotyping and exome sequencing in a consanguineous Pakistani family with two boys with mild ID. Mutations in the LRP2 gene have previously been reported in patients with Donnai–Barrow and Stickler syndromes. LRP2 has also been associated with a 2q locus for autism (AUTS5). The TSPYL2 variant is not listed in any single-nucleotide polymorphism databases, and the LRP2 vari...
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation
Conclusion: We argue that very rare, LoF mutations at SCN2A act in a moderately penetrant manner to increase the risk of developing several neuropsychiatric disorders including seizure disorders, ID, autism and schizophrenia. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

A systematic review and meta-analysis of the association between the apolipoprotein E genotype and delirium
The role of apolipoprotein E (APOE) in Alzheimer’s disease and other dementias has been investigated intensively. However, the relationship between APOE and delirium has only recently been explored in studies that have included relatively small samples. A meta-analysis of the published pooled data is timely to explore the relationship between APOE and delirium and to inform further research in this topic. PubMed, EBSCOhost, Google Scholar, Scopus, all EBM Reviews (OVID) and the Cochrane Database of Systematic Reviews were searched with relevant keywords and from the references of relevant papers. Ten papers were found th...
Source: Psychiatric Genetics - February 26, 2016 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Association between insertion/deletion polymorphism in intron 3 of XRCC4 and susceptibility to type I bipolar disorder
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - December 23, 2015 Category: Genetics & Stem Cells Tags: Brief Association Letter Source Type: research

Possible association between the prolactin receptor gene and callous-unemotional traits among aggressive children
This study examined the possible association between prolactin (PRL) system genes and callous-unemotional (CU) traits in childhood-onset aggression. Two markers for the PRL peptide gene and three markers for the prolactin receptor (PRLR) gene were genotyped. The participants were assessed on the CU subscale using five items from the Antisocial Process Screening Device. Genotype analysis showed nominally significant results with PRLR_rs187490 (uncorrected P=0.01), with the GG genotype associated with higher CU scores. This is the first paper to evaluate the relationship of PRL system genes with CU traits in childhood-onset ...
Source: Psychiatric Genetics - December 23, 2015 Category: Genetics & Stem Cells Tags: Brief Report Source Type: research

Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12–16 October 2014
The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12–16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by 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 oral presentations during the conference, and contains some of the major notable new findings reported. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - December 23, 2015 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

The association of polymorphisms in DAT (40 bp VNTR, C>T 3′UTR) and DBH (−1021 C/T) genes with the severe complications of alcohol withdrawal state
No abstract available (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 23, 2015 Category: Genetics & Stem Cells Tags: Brief Association Letter Source Type: research

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism
Many genes are now thought to confer susceptibility to autism. Despite the fact that this neuropsychiatric disease appears to be related to several different causes, common cellular and molecular pathways have emerged and point to synaptic dysfunction or cellular growth. Several studies have indicated the importance of the ubiquitin pathway in synaptic function and the aetiology of autism. Here, we focused on the ring finger protein 135 (RNF135) gene, encoding an E3 ubiquitin ligase expressed in the cortex and cerebellum, and located in the NF1 gene locus in 17q11.2, a region linked to autism. We carried out a genetic anal...
Source: Psychiatric Genetics - October 23, 2015 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Lack of genetic association of the TGM2 gene with schizophrenia in a Chinese population
The gene coding for transglutaminase 2 (TGM2) has been reported to be associated with schizophrenia in a White population. The present study was then designed to replicate this initial finding in a Chinese population. A total of 428 individuals with schizophrenia and 555 control participants were recruited for genetic analysis. Four single nucleotide polymorphisms present in the TGM2 gene were selected for genotyping, including rs2076380, rs7270785, rs4811528, and rs6023526, by PCR-based restriction fragment length polymorphism analysis. None of these four single nucleotide polymorphisms genotyped showed an association wit...
Source: Psychiatric Genetics - October 23, 2015 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer
The SLITRK1 (Slit and Trk-like 1) gene has been suggested to be a promising candidate for Tourette syndrome (TS) since the first report that identified its two rare variants adjacent to the chromosome inversion in a TS child with inv(13) (q31.1;q33.1). A series of replication studies have been carried out, whereas the role of the gene has not been elucidated. The present study aimed to determine whether the two or novel nonsynonymous variants were identified in Japanese TS patients and carry out an association analysis of the gene in a Japanese population. We did not observe the two or any novel nonsynonymous variants in t...
Source: Psychiatric Genetics - October 23, 2015 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

BDNF Val66Met polymorphism and stressful life events in melancholic childhood-onset depression
Conclusion: In our study, females were more prone to developing the early-onset melancholic phenotype. To our knowledge, this is the first study to investigate the differentiating effect of the genotype and the G×E interaction on the melancholic phenotype in a large sample of depressed young patients. We did not find an association between the melancholic subtype of major depression and the BDNF genotype and SLE interaction in this sample, which is representative of the Hungarian clinic-referred population of depressed youths. (Source: Psychiatric Genetics)
Source: Psychiatric Genetics - October 23, 2015 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research