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Psychiatric Genetics

Katerina G Pantavou, Georgia G Braliou, Panagiota I Kontou, Niki L Dimou, Pantelis G Bagos
OBJECTIVE: The aim of this study was to investigate the potential association of FZD3 polymorphisms with schizophrenia. METHODS: A systematic review and a meta-analysis were carried out comprising of nine genetic association studies, with both a population-based and a family-based design, and three genome-wide association studies. A total of 1601 family trios, 39 922 schizophrenic patients, and 61 287 healthy individuals were involved in the analysis and six polymorphisms were examined: rs2241802, rs2323019, rs352203, rs3757888, rs880481, and rs960914...
October 17, 2016: Psychiatric Genetics
Naushad Shaik Mohammad, P Sai Shruti, Venkat Bharathi, Chintakindi Krishna Prasad, Tajamul Hussain, Salman A Alrokayan, Usha Naik, Akella Radha Rama Devi
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...
October 17, 2016: Psychiatric Genetics
Areerat Hnoonual, Thanya Sripo, Pornprot Limprasert
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...
October 14, 2016: Psychiatric Genetics
Franziska Degenhardt, Barbara Heinemann, Jana Strohmaier, Marvin A Pfohl, Ina Giegling, Andrea Hofmann, Kerstin U Ludwig, Stephanie H Witt, Michael Ludwig, Andreas J Forstner, Margot Albus, Sibylle G Schwab, Margitta Borrmann-Hassenbach, Leonard Lennertz, Michael Wagner, Per Hoffmann, Dan Rujescu, Wolfgang Maier, Sven Cichon, Marcella Rietschel, Markus M Nöthen
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...
September 23, 2016: Psychiatric Genetics
Lyndon J Zass, Stephanie A Hart, Soraya Seedat, Sian M J Hemmings, Stefanie Malan-Müller
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...
September 15, 2016: Psychiatric Genetics
Noomi O Gregersen, Henriette N Buttenschøn, Anne Hedemand, Marit N Nielsen, Hans A Dahl, Ann S Kristensen, Oddbjørg Johansen, David P D Woldbye, Angelika Erhardt, Torben A Kruse, August G Wang, Anders D Børglum, Ole Mors
Panic disorder (PD) is a severe and disabling mental disorder, which is moderately heritable. In a previous study, we carried out a genome-wide association study using patients with PD and control individuals from the isolated population of the Faroe Islands and identified chromosome 19p13.2 as a candidate region. To further investigate this chromosomal region for association with PD, we analysed eight single nucleotide polymorphisms (SNPs) in three candidate genes - small-nuclear RNA activating complex, polypeptide 2 (SNAPC2), mitogen-activated protein kinase kinase 7 (MAP2K7) and leucine-rich repeat containing 8 family, member E (LRRC8E) - these genes have previously been directly or indirectly implicated in other mental disorders...
September 8, 2016: Psychiatric Genetics
Gwyneth Zai, Bonnie Alberry, Janine Arloth, Zsófia Bánlaki, Cristina Bares, Erik Boot, Caroline Camilo, Kartikay Chadha, Qi Chen, Christopher B Cole, Katherine T Cost, Megan Crow, Ibene Ekpor, Sascha B Fischer, Laura Flatau, Sarah Gagliano, Umut Kirli, Prachi Kukshal, Viviane Labrie, Maren Lang, Tristram A Lett, Elisabetta Maffioletti, Robert Maier, Marina Mihaljevic, Kirti Mittal, Eric T Monson, Niamh L O'Brien, Søren D Østergaard, Ellen Ovenden, Sejal Patel, Roseann E Peterson, Jennie G Pouget, Diego L Rovaris, Lauren Seaman, Bhagya Shankarappa, Fotis Tsetsos, Andrea Vereczkei, Chenyao Wang, Khethelo Xulu, Ryan K C Yuen, Jingjing Zhao, Clement C Zai, James L Kennedy
The XXIIIrd World Congress of Psychiatric Genetics meeting, sponsored by the International Society of Psychiatric Genetics, was held in Toronto, ON, Canada, on 16-20 October 2015. Approximately 700 participants attended to discuss the latest state-of-the-art findings in this rapidly advancing and evolving field. The following report was written by trainee travel awardees. Each was assigned one session as a rapporteur. This manuscript represents the highlights and topics that were covered in the plenary sessions, symposia, and oral sessions during the conference, and contains major notable and new findings...
September 7, 2016: Psychiatric Genetics
Jens Treutlein, Jana Strohmaier, Josef Frank, Stephanie H Witt, Liz Rietschel, Andreas J Forstner, Maren Lang, Franziska Degenhardt, Helene Dukal, Stefan Herms, Fabian Streit, Per Hoffmann, Sven Cichon, Markus M Nöthen, Marcella Rietschel
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...
August 31, 2016: Psychiatric Genetics
Hee Jeong Yoo, Boong-Nyun Kim, Jae-Won Kim, Min-Sup Shin, Tae-Won Park, Jung-Woo Son, Un-Sun Chung, Mira Park, Soon Ae Kim
No abstract text is available yet for this article.
August 29, 2016: Psychiatric Genetics
Xing Yang, Wenzhao Ru, Bei Wang, Xiaocai Gao, Lu Yang, She Li, Shoumin Xi, Pingyuan Gong
OBJECTIVE: Levels of norepinephrine (NE) in the brain are related to attention ability in animals and risk of attention-deficit hyperactivity disorder in humans. Given the modulation of the norepinephrine transporter (NET) on NE levels in the brain and the link between NE and attention impairment of attention-deficit hyperactivity disorder, it was possible that the NET gene underpinned individual differences in attention processes in healthy populations. METHODS: To investigate to what extent NET could modulate one's attention orientation to facial expressions, we categorized individuals according to the genotypes of the -182 T/C (rs2242446) polymorphism and measured individuals' attention orientation with the spatial cueing task...
August 18, 2016: Psychiatric Genetics
Livia Casarelli, Maurizio Minnei, Mariabernarda Pitzianti, Marco Armando, Maria Pontillo, Stefano Vicari, Augusto Pasini
22q11 Deletion syndrome (22q11DS) is a neurogenetic disorder, resulting from a hemizygous microdeletion on the long arm of chromosome 22. In 22q11DS, the phenotypic expression is highly variable. Approximately one-third of all individuals with 22q11DS develop schizophrenia-like psychotic disorder. Among the genes in the deleted region, catechol-O-methyltransferase (COMT) has a particular relevance for psychiatric disorders: lower COMT enzymatic activity decreases the clearance of dopamine (DA), yielding higher levels of catecholamines in the central nervous system...
October 2016: Psychiatric Genetics
Marina Bučić, Peter Pregelj, Tomaž Zupanc, Alja Videtič Paska
OBJECTIVE: Suicidal behavior is a complex phenomenon, an outcome of both environmental and genetic factors. In the present study, we looked for a potential association between suicide and the reelin gene as reelin has been associated previously with several psychiatric disorders, including depression. MATERIALS AND METHODS: We analyzed three single nucleotide polymorphisms (SNPs) in the reelin gene, rs2965087, rs7341475, and rs362691, in a population of 483 suicide victims and 332 healthy controls, all Caucasians...
October 2016: Psychiatric Genetics
Rebecca N S Harrison, Robin M Murray, Sang Hyuck Lee, Jose Paya Cano, David Dempster, Charles J Curtis, Danai Dima, Fiona Gaughran, Gerome Breen, Simone de Jong
OBJECTIVES: Clozapine is an atypical antipsychotic primarily prescribed for treatment-resistant schizophrenia. We tested the specific effect of clozapine versus other drug treatments on whole-blood gene expression in a sample of patients with psychosis from the UK. METHODS: A total of 186 baseline whole-blood samples from individuals receiving treatment for established psychosis were analysed for gene expression on Illumina HumanHT-12.v4 BeadChips. After standard quality-control procedures, 152 samples remained, including 55 from individuals receiving clozapine...
October 2016: Psychiatric Genetics
Xingfu Pu, Xiao Xiao
INTRODUCTION: Schizophrenia is a severe neuropsychiatric disorder with high heritability. A single nucleotide polymorphism rs1625579 in the miR-137 gene has recently been reported to confer risk of schizophrenia by a genome-wide association study in populations of European ancestry. However, subsequent association studies in Asian populations yielded inconsistent results. MATERIALS AND METHODS: To carry out a systematic meta-analysis of rs1625579 with schizophrenia in Asian populations, we collected phenotypic and genetic data from individual replication samples of up to 11 887 schizophrenic patients, 16 660 normal controls, and 579 families...
October 2016: Psychiatric Genetics
Sara Poletti, Elena Mazza, Irene Bollettini, Andrea Falini, Enrico Smeraldi, Roberto Cavallaro, Francesco Benedetti
OBJECTIVES: Impaired cognitive functioning is a core feature of schizophrenia. Cognitive impairment in schizophrenia has been associated with white-matter (WM) abnormalities and degenerative changes of cortical myelin in the cerebral cortex. Furthermore, findings suggested a role of the COMT gene in affecting both WM and neuropsychological performances.We thus hypothesized that the COMT ValMet genotype would affect the association between cognitive functions and WM microstructure in a sample of schizophrenic patients...
October 2016: Psychiatric Genetics
David Curtis
Weighted burden pathway analysis was applied to whole exome sequence data for 2045 schizophrenic patients and 2045 controls. Overall, there was a statistically significant excess of pathways with more rare, functional variants in cases than in controls. Among the highest ranked were pathways relating to histone modification, as well as neuron differentiation and membrane and vesicle function. This bolsters the evidence from previous studies that histone modification pathways may be important in the aetiology of schizophrenia...
October 2016: Psychiatric Genetics
John B Vincent
For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington's disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric disorders. Given the then failures to replicate initial genetic linkage findings for schizophrenia (SCZ) and bipolar disorder (BD), a greater emphasis was placed on the role of complex and non-Mendelian mechanisms, and repeat instability appeared to have the potential to provide adequate explanations for numerous apparently non-Mendelian features such as anticipation, incomplete penetrance, sporadic occurrence, and nonconcordance of monozygotic twins...
August 2016: Psychiatric Genetics
Shi-Hua Sun, Xia Hu, Ji-Yu Zhang, Hui-Min Qiu, Xianchen Liu, Cun-Xian Jia
BACKGROUND: Suicide attempt is a major public health problem and are associated with genetic factors. This paired case-control study examined the association between the COMT gene rs4680 polymorphism and suicide attempts. METHODS: A case-control study of 369 (117 men, 31.7%; mean age=44.1±13.3 years) suicide attempters and an equal number of controls without a lifetime history of suicide attempt matched on sex, age, and residence was carried out in rural Shandong, Eastern China...
August 2016: Psychiatric Genetics
Hui-Ching Huang, Ahai Chang Lua, Lawrence Shih-Hsin Wu, Bo-Jian Wu, Shin-Min Lee, Chao-Zong Liu
OBJECTIVE: The efficacy of clozapine clearance has been shown to be associated with smoking and genetic polymorphism of CYP1A2. This study aims to investigate the effect of smoking on the plasma level of clozapine in Taiwanese schizophrenic patients and its relevance to the CYP1A2 gene -163A/C single nucleotide polymorphism. MATERIALS AND METHODS: A total of 143 hospitalized schizophrenic patients who had received clozapine therapy for at least 14 days were enrolled in this study...
August 2016: Psychiatric Genetics
Ryan M Kuehner, Peter Kochunov, Katie L Nugent, Deanna E Jurius, Anya Savransky, Christopher Gaudiot, Heather A Bruce, James Gold, Alan R Shuldiner, Braxton D Mitchell, L Elliot Hong
OBJECTIVE: This study aimed to establish the applicability of the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) in the Old Order Amish (OOA) and to assess the genetic contribution toward the RBANS total score and its cognitive domains using a large family-based sample of OOA. PARTICIPANTS AND METHODS: RBANS data were collected in 103 OOA individuals from Lancaster County, Pennsylvania, including 85 individuals without psychiatric illness and 18 individuals with current psychiatric diagnoses...
August 2016: Psychiatric Genetics
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