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psychiatric genes

L A Paes, O H Della Torre, T B Henriques, M P de Mello, E H R V Celeri, P Dalgalarrondo, G Guerra Júnior, A Dos Santos Júnior
Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
Leda Coelewij, David Curtis
A number of important findings have recently emerged relevant to identifying genetic risk factors for schizophrenia. Findings using common variants point towards gene sets of interest and also demonstrate an overlap with other psychiatric and nonpsychiatric disorders. Imputation of variants of the gene for complement component 4 (C4) from GWAS data has shown that the predicted expression of the C4A product is associated with schizophrenia risk. Very rare variants disrupting SETD1A, RBM12 or NRXN1 have a large effect on risk...
June 20, 2018: Annals of Human Genetics
Jeffrey G Snodgrass, H J François Dengah Ii, Michael G Lacy, Robert J Else, Evan R Polzer, Jesusa M G Arevalo, Steven W Cole
OBJECTIVES: To combine social genomics with cultural approaches to expand understandings of the somatic health dynamics of online gaming, including in the controversial nosological construct of internet gaming disorder (IGD). METHODS: In blood samples from 56 U.S. gamers, we examined expression of the conserved transcriptional response to adversity (CTRA), a leukocyte gene expression profile activated by chronic stress. We compared positively engaged and problem gamers, as identified by an ethnographically developed measure, the Positive and Negative Gaming Experiences Scale (PNGE-42), and also by a clinically derived IGD scale (IGDS-SF9)...
June 20, 2018: American Journal of Human Biology: the Official Journal of the Human Biology Council
Ileana Lorenzini, Stephen Moore, Rita Sattler
The molecular process of RNA editing allows changes in RNA transcripts that increase genomic diversity. These highly conserved RNA editing events are catalyzed by a group of enzymes known as adenosine deaminases acting on double-stranded RNA (ADARs). ADARs are necessary for normal development, they bind to over thousands of genes, impact millions of editing sites, and target critical components of the central nervous system (CNS) such as glutamate receptors, serotonin receptors, and potassium channels. Dysfunctional ADARs are known to cause alterations in CNS protein products and therefore play a role in chronic or acute neurodegenerative and psychiatric diseases as well as CNS cancer...
2018: Advances in Neurobiology
Soichiro Nakahara, Sarah Medland, Jessica A Turner, Vince D Calhoun, Kelvin O Lim, Bryon A Mueller, Juan R Bustillo, Daniel S O'Leary, Jatin G Vaidya, Sarah McEwen, James Voyvodic, Aysenil Belger, Daniel H Mathalon, Judith M Ford, Guia Guffanti, Fabio Macciardi, Steven G Potkin, Theo G M van Erp
This study assessed genetic contributions to six cognitive domains, identified by the MATRICS Cognitive Consensus Battery as relevant for schizophrenia, cognition-enhancing, clinical trials. Psychiatric Genomics Consortium Schizophrenia polygenic risk scores showed significant negative correlations with each cognitive domain. Genome-wide association analyses identified loci associated with attention/vigilance (rs830786 within HNF4G), verbal memory (rs67017972 near NDUFS4), and reasoning/problem solving (rs76872642 within HDAC9)...
June 12, 2018: Schizophrenia Research
(no author information available yet)
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders...
June 14, 2018: Cell
Hanzhang Xia, Fay M Jahr, Nak-Kyeong Kim, Linying Xie, Andrey A Shabalin, Julien Bryois, Douglas H Sweet, Mohamad M Kronfol, Preetha Palasuberniam, MaryPeace McRae, Brien P Riley, Patrick F Sullivan, Edwin J van den Oord, Joseph L McClay
The transcription factor 4 (TCF4) locus is a robust association finding with schizophrenia (SCZ), but little is known about the genes regulated by the encoded transcription factor. Therefore, we conducted chromatin immunoprecipitation sequencing (ChIP-seq) of TCF4 in neural-derived (SH-SY5Y) cells to identify genome-wide TCF4 binding sites, followed by data integration with SCZ association findings. We identified 11,322 TCF4 binding sites overlapping in two ChIP-seq experiments. These sites are significantly enriched for the TCF4 Ebox binding motif (>85% having ≥1 Ebox) and implicate a gene set enriched for genes down-regulated in TCF4 siRNA knockdown experiments, indicating the validity of our findings...
June 14, 2018: Human Molecular Genetics
John K L Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H T Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S Cherny
Objective: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited...
June 2018: Neurology. Genetics
Francesco Rusconi, Elena Battaglioli
Psychiatric disorders entail maladaptive processes impairing individuals' ability to appropriately interface with environment. Among them, depression is characterized by diverse debilitating symptoms including hopelessness and anhedonia, dramatically impacting the propensity to live a social and active life and seriously affecting working capability. Relevantly, besides genetic predisposition, foremost risk factors are stress-related, such as experiencing chronic psychosocial stress-including bullying, mobbing and abuse-, and undergoing economic crisis or chronic illnesses...
2018: Frontiers in Molecular Neuroscience
Yann C Klimentidis, David A Raichlen, Jennifer Bea, David O Garcia, Nathan E Wineinger, Lawrence J Mandarino, Gene E Alexander, Zhao Chen, Scott B Going
BACKGROUND/OBJECTIVES: Physical activity (PA) protects against a wide range of diseases. Habitual PA appears to be heritable, motivating the search for specific genetic variants that may inform efforts to promote PA and target the best type of PA for each individual. SUBJECTS/METHODS: We used data from the UK Biobank to perform the largest genome-wide association study of PA to date, using three measures based on self-report (nmax  = 377,234) and two measures based on wrist-worn accelerometry data (nmax  = 91,084)...
June 13, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
Yi-Chung Lee, Chin-Ping Chung, Nai-Chen Chao, Jong-Ling Fuh, Feng-Chi Chang, Bing-Wing Soong, Yi-Chu Liao
BACKGROUND AND PURPOSE: Homozygous and compound heterozygous mutations in the high temperature requirement serine peptidase A1 gene ( HTRA1 ) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. However, heterozygous HTRA1 mutations were recently identified to be associated with autosomal dominant cerebral small vessel disease (SVD). The present study aims at investigating the clinical features, frequency, and spectrum of HTRA1 mutations in a Taiwanese cohort with SVD...
June 12, 2018: Stroke; a Journal of Cerebral Circulation
Amanda Jager, Dorien A Maas, Kim Fricke, Rob B de Vries, Geert Poelmans, Jeffrey C Glennon
Aggressive behavior is often core or comorbid to psychiatric and neurodegenerative disorders. Transgenic animal models are commonly used to study the neurobiological mechanisms underlying aggressive phenotypes and have led to new insights into aggression. This systematic review critically evaluates the available literature on transgenic animal models tested for aggression with the resident-intruder test. By combining the available literature on this topic, we sought to highlight effective methods for laboratory aggression testing and provide recommendations for study design as well as aggression induction and measurement in rodents that are translational to humans, taking into consideration possible confounding factors...
August 2018: Neuroscience and Biobehavioral Reviews
Tian Zhang, Jun Li, Hao Yu, Yongyong Shi, Zhiqiang Li, Linyan Wang, Ziqi Wang, Tianlan Lu, Lifang Wang, Weihua Yue, Dai Zhang
Schizophrenia (SCZ) is a severe psychiatric disorder with evidence of a strong genetic component in the complex etiologies. Some studies indicated that gamma-aminobutyric acid (GABA)A receptor β2 subunit gene (GABRB2) was associated with SCZ. Other studies reported a negative association. Moreover, the results of two previous meta-analyses of GABRB2 with SCZ were inconsistent and the sample sizes were limited. Therefore, an updated meta-analysis combined with genome-wide association study (GWAS) data of the Han Chinese population and Psychiatric Genomics Consortium (PGC) was performed...
2018: PloS One
Jonathan J Sabbagh, Ricardo A Cordova, Dali Zheng, Marangelie Criado-Marrero, Andrea Lemus, Pengfei Li, Jeremy D Baker, Bryce A Nordhues, April L Darling, Carlos Martinez-Licha, Daniel A Rutz, Shreya Patel, Johannes Buchner, James W Leahy, John Koren, Chad A Dickey, Laura J Blair
Genetic and epigenetic alterations in FK506-binding protein 5 (FKBP5) have been associated with increased risk for psychiatric disorders, including post-traumatic stress disorder (PTSD). These variants can increase the expression of FKBP5, the gene that encodes FKBP51. Excess FKBP51 promotes hypothalamic-pituitary-adrenal (HPA) axis dysregulation through altered glucocorticoid receptor (GR) signaling. Thus, we hypothesized that GR activity could be restored by perturbing FKBP51. Here, we report that depletion of FKBP51 from the GR/90kDa heat shock protein (Hsp90) complex increased GR signaling in vivo...
June 12, 2018: ACS Chemical Biology
Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz
Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical and molecular factors with neuropsychiatric outcomes. Data were extracted from 38 peer-reviewed original articles including 271 individual cases...
June 11, 2018: Molecular Psychiatry
Julio Rodríguez-López, Gerardo Flórez, Vanessa Blanco, César Pereiro, José Manuel Fernández, Emilio Fariñas, Valentín Estévez, Jesús Gómez-Trigo, Xaquín Gurriarán, Raquel Calvo, Pilar Sáiz, Fernando Lino Vázquez, Manuel Arrojo, Javier Costas
Genetics plays an important role in alcohol abuse/dependence. Its heritability has been estimated as 45-65%. Rare copy number variations (CNVs) have been confirmed as relevant genetic factors in other neuropsychiatric disorders, such as autism spectrum disorders, schizophrenia, epilepsy, or Tourette syndrome. In the present study, we analyzed the role of rare CNVs affecting exons of coding genes in a sample from Northwest Spain genotyped using the Illumina Infinium PsychArray Beadchip. After rigorous genotyping quality control procedure, 712 patients with alcohol abuse or dependence and 804 controls were used for CNV detection...
June 2, 2018: Journal of Psychiatric Research
Marquis Philip Vawter, Robert Philibert, Brandi Rollins, Patricia L Ruppel, Terry W Osborn
This study developed potential blood-based biomarker tests for diagnosing and differentiating schizophrenia (SZ), bipolar disorder type I (BD), and normal control (NC) subjects using mRNA gene expression signatures. A total of 90 subjects ( n = 30 each for the three groups of subjects) provided blood samples at two visits. The Affymetrix exon microarray was used to profile the expression of over 1.4 million probesets. We selected potential biomarker panels using the temporal stability of the probesets and also back-tested them at two different visits for each subject...
May 2018: Molecular Neuropsychiatry
Yukio Ago, Atsuko Hayata, Hitoshi Hashimoto
The advent of the genomic era has led to the discovery of linkages of several genes and pathways to schizophrenia and autism spectrum disorder (ASD) that may serve as new biomarkers or therapeutic targets for these diseases. Two large-scale genetic studies published early in 2011 provided evidence that functional microduplications at 7q36.3, containing VIPR2, are a risk factor for schizophrenia. 7q36.3 microduplications were also reported to be significantly increased in ASD. VIPR2 encodes VPAC2, a seven transmembrane heterotrimeric G protein-coupled receptor that binds two homologous neuropeptides with high affinity, PACAP and VIP...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
Silvio Notari, Brian S Appleby, Pierluigi Gambetti
Variably protease-sensitive prionopathy (VPSPr), originally identified in 2008, was further characterized and renamed in 2010. Thirty-seven cases of VPSPr have been reported to date, consistent with estimated prevalence of 0.7-1.7% of all sporadic prion diseases. The lack of gene mutations establishes VPSPr as a sporadic form of human prion diseases, along with sporadic Creutzfeldt-Jakob disease (sCJD) and sporadic fatal insomnia. Like sCJD, VPSPr affects patients harboring any of the three genotypes, MM, MV, and VV at the prion protein (PrP) gene polymorphic codon 129, with VPSPr VV accounting for 65% of all VPSPr cases...
2018: Handbook of Clinical Neurology
Haider Ali Naqvi, Shafqat Huma, Hira Waseem, Kashaf Aqeel Zaidi, Syed Hani Abidi
OBJECTIVE: To determine the association of single-nucleotide polymorphism8nrg433E1006 in the neuregulin-1 gene associated with schizophrenia. METHODS: This case-control study was conducted at the Fountain House, Lahore, and the psychiatric clinics at the Aga Khan University, Karachi, from 2010 to 2013.The total genomic deoxyribonucleic acid was isolated and single-nucleotide polymorphism8nrg433E1006 was screened by nested polymerase chain reaction followed by sequencing...
May 2018: JPMA. the Journal of the Pakistan Medical Association
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