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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28225367/progranulin-gene-variation-affects-serum-progranulin-levels-differently-in-danish-bipolar-individuals-compared-with-healthy-controls
#2
Henriette N Buttenschøn, Marit N Nielsen, Gangadaar Thotakura, Chris W Lee, Anders Nykjær, Ole Mors, Simon Glerup
OBJECTIVES: The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls...
February 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28178086/identification-of-rare-nonsynonymous-variants-in-syne1-cpg2-in-bipolar-affective-disorder
#3
Sally I Sharp, Jenny Lange, Radhika Kandaswamy, Mazen Daher, Adebayo Anjorin, Nicholas J Bass, Andrew McQuillin
BACKGROUND: Bipolar affective disorder (BPD) is a severe mood disorder with a prevalence of ∼1.5% in the population. The pathogenesis of BPD is poorly understood; however, a strong heritable component has been identified. Previous genome-wide association studies have indicated a region on 6q25, coding for the SYNE1 gene, which increases disease susceptibility. SYNE1 encodes the synaptic nuclear envelope protein-1, nesprin-1. A brain-specific splice variant of SYNE1, CPG2 encoding candidate plasticity gene 2, has been identified...
February 7, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28118293/common-variants-in-slc6a2-slc6a3-drd2-and-major-depressive-disorder-an-association-study-in-the-chinese-han-population
#4
Yan Bi, Xiaoye Huang, Weibo Niu, Shiqing Chen, Xi Wu, Yanfei Cao, Rui Zhang, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Tao Yu, Guang He, Xingwang Li
No abstract text is available yet for this article.
January 21, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28212207/summaries-of-plenary-and-selected-symposia-sessions-at-the-xxiv-world-congress-of-psychiatric-genetics-jerusalem-israel-30-october-2016-3-november-2016
#5
Liliana G Ciobanu, Anil P S Ori, Luca Pagliaroli, Renato Polimanti, Leticia M Spindola, John B Vincent, Freida K Cormack
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...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28187106/association-between-nat2-polymorphisms-and-the-risk-of-schizophrenia-in-a-northern-chinese-han-population
#6
Zhilin Luan, Tianlan Lu, Weihua Yue, Sjef Copray, Dai Zhang
The gene that encodes N-acetyltransferase 2 (NAT2), an enzyme that plays a crucial role in the metabolism of many drugs and xenobiotics, is located on chromosome 8p22, one of the most convictive susceptibility loci of schizophrenia. NAT2 genetic polymorphisms lead to various enzyme acetylation phenotypes. In the present study, six selected NAT2 exonic single nucleotide polymorphisms were genotyped in an independent case-control sample of a Northern Chinese Han population to verify the possible association between NAT2 and schizophrenia...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28125460/varscan2-analysis-of-de-novo-variants-in-monozygotic-twins-discordant-for-schizophrenia
#7
Emma Reble, Christina A Castellani, Melkaye G Melka, Richard O'Reilly, Shiva M Singh
OBJECTIVES: Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective approaches to identify relevant differences that may cause or contribute toward disease discordance. PARTICIPANTS AND METHODS: This study carried out a VarScan2 bioinformatic analysis and a pathway analysis on whole-genome sequences from two sets of monozygotic twins...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28027116/association-study-of-grm7-polymorphisms-with-major-depressive-disorder-in-the-chinese-han-population
#8
Weibo Niu, Xiaoye Huang, Tao Yu, Shiqing Chen, Xingwang Li, Xi Wu, Yanfei Cao, Rui Zhang, Yan Bi, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Guang He
No abstract text is available yet for this article.
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27893590/association-study-of-the-glrx5-rs1007814-polymorphism-with-schizophrenia-in-the-han-chinese-population
#9
Beimeng Yang, Weibo Niu, Shiqing Chen, Fei Xu, Xingwang Li, Xi Wu, Yanfei Cao, Rui Zhang, Fengping Yang, Lu Wang, Weidong Li, Yifeng Xu, Lin He, Guang He
No abstract text is available yet for this article.
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27824727/definition-of-a-putative-pathological-region-in-park2-associated-with-autism-spectrum-disorder-through-in-silico-analysis-of-its-functional-structure
#10
Inês C Conceição, Maria M Rama, Bárbara Oliveira, Cátia Café, Joana Almeida, Susana Mouga, Frederico Duque, Guiomar Oliveira, Astrid M Vicente
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27776093/diagnostic-interview-for-genetic-studies-validity-and-reliability-of-the-croatian-version
#11
Žana Kralj, Milenka Dedić, Anđela Kovačević, Mario Malički, Jelena Dedić, Marina Pelivan, Dubravka Vuković, Carrie Fisher, Rachel L Kember, John Nurnberger, Maja Bućan, Dolores Britvić
OBJECTIVE: To test the validity and reliability of the Diagnostic Interview for Genetic Studies (DIGS) in patients with mental illness in Croatia. MATERIALS AND METHODS: Following translation, back-translation, and pilot testing, the Croatian version of DIGS (CRO-DIGS) was administered to a total of 150 inpatients and outpatients diagnosed at the Clinical Hospital in Split with bipolar and major depressive disorder (n=56), schizophrenia and schizoaffective disorder (n=62), and alcohol dependence or use disorders (n=32)...
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27584037/association-between-neuropeptide-y-receptor-y2-promoter-variant-rs6857715-and-major-depressive-disorder
#12
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...
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27574960/family-based-genetic-association-study-of-cntnap2-polymorphisms-and-sociality-endophenotypes-in-korean-patients-with-autism-spectrum-disorders
#13
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.
February 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/27755291/clinical-utility-of-folate-pathway-genetic-polymorphisms-in-the-diagnosis-of-autism-spectrum-disorders
#14
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...
December 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27668412/identification-of-rare-variants-in-kctd13-at-the-schizophrenia-risk-locus-16p11-2
#15
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...
December 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27606929/rapporteur-summaries-of-plenary-symposia-and-oral-sessions-from-the-xxiiird-world-congress-of-psychiatric-genetics-meeting-in-toronto-canada-16-20-october-2015
#16
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...
December 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27846046/clinical-and-molecular-characterization-of-three-genomic-rearrangements-at-chromosome-22q13-3-associated-with-autism-spectrum-disorder
#17
Chia-Hsiang Chen, Hsin-I Chen, Hsiao-Mei Liao, Yann-Jang Chen, Jye-Siung Fang, Kuei-Fang Lee, Susan Shur-Fen Gau
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD...
November 11, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27755292/a-meta-analysis-of-fzd3-gene-polymorphisms-and-their-association-with-schizophrenia
#18
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
https://www.readbyqxmd.com/read/27755371/whole-exome-sequencing-identifies-a-novel-heterozygous-missense-variant-of-the-en2-gene-in-two-unrelated-patients-with-autism-spectrum-disorder
#19
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
https://www.readbyqxmd.com/read/27548835/dopamine-dysfunction-in-22q11-deletion-syndrome-possible-cause-of-motor-symptoms
#20
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
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