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https://www.readbyqxmd.com/read/28528196/a-review-of-psychiatric-co-morbidity-described-in-genetic-and-immune-mediated-movement-disorders
#1
REVIEW
K J Peall, M S Lorentzos, I Heyman, M A J Tijssen, M J Owen, R C Dale, M A Kurian
Psychiatric symptoms are an increasingly recognised feature of movement disorders. Recent identification of causative genes and autoantibodies has allowed detailed analysis of aetiologically homogenous subgroups, thereby enabling determination of the spectrum of psychiatric symptoms in these disorders. This review evaluates the incidence and type of psychiatric symptoms encountered in patients with movement disorders. A broad spectrum of psychiatric symptoms was identified across all subtypes of movement disorder, with depression, generalised anxiety disorder and obsessive-compulsive disorder being most common...
May 17, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28523558/epigenome-editing-in-the-brain
#2
Pavel Bashtrykov, Albert Jeltsch
Epigenome editing aims for an introduction or removal of chromatin marks at a defined genomic region using artificial EpiEffectors resulting in a modulation of the activity of the targeted functional DNA elements. Rationally designed EpiEffectors consist of a targeting DNA-binding module (such as a zinc finger protein, TAL effector, or CRISPR/Cas complex) and usually, but not exclusively, a catalytic domain of a chromatin-modifying enzyme. Epigenome editing opens a completely new strategy for basic research of the central nervous system and causal treatment of psychiatric and neurological diseases, because rewriting of epigenetic information can lead to the direct and durable control of the expression of disease-associated genes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523549/dna-methylation-in-schizophrenia
#3
Lotta-Katrin Pries, Sinan Gülöksüz, Gunter Kenis
Schizophrenia is a highly heritable psychiatric condition that displays a complex phenotype. A multitude of genetic susceptibility loci have now been identified, but these fail to explain the high heritability estimates of schizophrenia. In addition, epidemiologically relevant environmental risk factors for schizophrenia may lead to permanent changes in brain function. In conjunction with genetic liability, these environmental risk factors-likely through epigenetic mechanisms-may give rise to schizophrenia, a clinical syndrome characterized by florid psychotic symptoms and moderate to severe cognitive impairment...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523548/noncoding-rnas-in-depression
#4
Rixing Lin, Gustavo Turecki
Major depressive disorder (MDD) is a common psychiatric disorder affecting millions of people worldwide, yet its etiology remains elusive. The last decades have seen great advances in our understanding of the genome structure and functional organization. Noncoding RNAs (ncRNAs) are RNAs that do not code for proteins but have important regulatory roles. The investigation of ncRNAs as regulators of gene expression has been a topic of growing interest in health research, including in studies investigating etiological and therapeutic factors in major depression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523546/histone-modifications-in-major-depressive-disorder-and-related-rodent-models
#5
Jan M Deussing, Mira Jakovcevski
Major depressive disorder (MDD) is a multifactorial disease, weakly linked to multiple genetic risk factors. In contrast to that, environmental factors and "gene × environment" interaction between specific risk genes and environmental factors, such as severe or early stress exposure, have been strongly linked to MDD vulnerability. Stressors can act on the interface between an organism and the environment, the epigenome. The molecular foundation for the impact of stressors on the risk to develop MDD is based on the hormonal stress response itself: the glucocorticoid receptor (GR, encoded by NR3C1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523545/anxiety-and-epigenetics
#6
Andrew A Bartlett, Rumani Singh, Richard G Hunter
Anxiety disorders are highly prevalent psychiatric disorders often comorbid with depression and substance abuse. Twin studies have shown that anxiety disorders are moderately heritable. Yet, genome-wide association studies (GWASs) have failed to identify gene(s) significantly associated with diagnosis suggesting a strong role for environmental factors and the epigenome. A number of anxiety disorder subtypes are considered "stress related." A large focus of research has been on the epigenetic and anxiety-like behavioral consequences of stress...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28521526/the-impact-of-genetics-on-future-drug-discovery-in-schizophrenia
#7
Mitsuyuki Matsumoto, Noah M Walton, Hiroshi Yamada, Yuji Kondo, Gerard J Marek, Katsunori Tajinda
Failures of investigational new drugs (INDs) for schizophrenia have left huge unmet medical needs for patients. Given the recent lackluster results, it is imperative that new drug discovery approaches (and resultant drug candidates) target pathophysiological alterations that are shared in specific, stratified patient populations that are selected based on pre-identified biological signatures. One path to implementing this paradigm is achievable by leveraging recent advances in genetic information and technologies...
May 18, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28521044/cross-tissue-exploration-of-genetic-and-epigenetic-effects-on-brain-gray-matter-in-schizophrenia
#8
Dongdong Lin, Jiayu Chen, Stefan Ehrlich, Juan R Bustillo, Nora Perrone-Bizzozero, Esther Walton, Vincent P Clark, Yu-Ping Wang, Jing Sui, Yuhui Du, Beng C Ho, Charles S Schulz, Vince D Calhoun, Jingyu Liu
Closely linking genetics and environment factors, epigenetics has been of increasing interest in psychiatric disease studies. In this work, we integrated single nucleotide polymorphisms (SNPs), DNA methylation of blood and saliva, and brain gray matter (GM) measures to explore the role of genetic and epigenetic variation to the brain structure changes in schizophrenia (SZ). By focusing on the reported SZ genetic risk regions, we applied a multi-stage multivariate analysis to a discovery dataset (92 SZ patients and 110 controls, blood) and an independent replication dataset (93 SZ patients and 99 controls, saliva)...
May 17, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28513607/variants-in-ttc25-affect-autistic-trait-in-patients-with-autism-spectrum-disorder-and-general-population
#9
Dina Vojinovic, Nathalie Brison, Shahzad Ahmad, Ilse Noens, Irene Pappa, Lennart C Karssen, Henning Tiemeier, Cornelia M van Duijn, Hilde Peeters, Najaf Amin
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28511728/birth-weight-interacts-with-a-functional-variant-of-the-oxytocin-receptor-gene-oxtr-to-predict-executive-functioning-in-children
#10
Mark Wade, Heather Prime, Thomas J Hoffmann, Louis A Schmidt, Thomas G O'Connor, Jennifer M Jenkins
Genetic variation in the oxytocin receptor gene (OXTR) is associated with several psychiatric conditions characterized by deficits in executive functioning (EF). A specific OXTR variant, rs2254298, has previously been associated with brain functioning in regions implicated in EF. Moreover, birth weight variation across the entire range is associated with individual differences in cortical structure and function that underlie EF. This is the first study to examine the main and interactive effect between rs2254298 and birth weight on EF in children...
May 17, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28511050/maternal-distress-in-late-pregnancy-alters-obstetric-outcomes-and-the-expression-of-genes-important-for-placental-glucocorticoid-signalling
#11
Katie L Togher, Eimear Treacy, Gerard W O'Keeffe, Louise C Kenny
The experience of maternal distress in pregnancy is often linked with poorer obstetric outcomes for women as well as adverse outcomes for offspring. Alterations in placental glucocorticoid signalling and subsequent increased fetal exposure to cortisol have been suggested to underlie this relationship. In the current study, 121 pregnant women completed the Perceived Stress Scale, State Trait Anxiety Inventory and Edinburgh Postnatal Depression Scale in the third trimester of pregnancy. Placental samples were collected after delivery...
May 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28508933/genetic-variants-within-key-nodes-of-the-cascade-of-antipsychotic-mechanisms-effects-on-antipsychotic-response-and-schizophrenia-psychopathology-in-a-naturalistic-treatment-setting-in-two-independent-korean-and-italian-samples
#12
Marco Calabrò, Stefano Porcelli, Concetta Crisafulli, Sheng-Min Wang, Soo-Jung Lee, Changsu Han, Ashwin A Patkar, Prakash S Masand, Diego Albani, Ilaria Raimondi, Gianluigi Forloni, Sofia Bin, Alessandro Mattiaccio, Vilma Mantovani, Tae-Youn Jun, Chi-Un Pae, Alessandro Serretti
INTRODUCTION: Schizophrenia (SCZ) is one of the most disabling psychiatric disorders. Genetic factors play an important role in both SCZ liability and its treatment outcome. In the present paper, we investigated the effects of several single nucleotide polymorphisms (SNPs) within ten strong candidate genes involved with antipsychotics (APs) mechanisms of action. METHODS: Two independent samples were investigated in the present study. Totals of 176 SCZ subjects and 326 controls of Korean ancestry, and 83 SCZ subjects and 194 controls of Italian ancestry were recruited and genotyped...
May 16, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28507316/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#13
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28506622/meta-analyses-of-reln-variants-in-neuropsychiatric-disorders
#14
Na Chen, Yanping Bao, Yanxue Xue, Yan Sun, Die Hu, Shiqiu Meng, Lin Lu, Jie Shi
Reelin is a critical extracellular matrix glycoprotein and implicated in neurodevelopment and psychiatric disorders in animal model studies. The genetic polymorphism of RELN has also been reported to be associated with several psychiatric disorders, but the results remain controversial. Here, we conducted meta-analyses of RELN gene SNPs and related neuropsychiatric disorders (schizophrenia, autistic spectrum disorders, attention-deficit hyperactivity disorder, Alzheimer's disease and bipolar disorders). A total of 12 SNPs (rs736707, rs362691, rs607755, rs2229864, rs7341475, rs262355, rs362719, rs11496125, g...
May 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28505103/neuronal-migration-and-auts2-syndrome
#15
REVIEW
Kei Hori, Mikio Hoshino
Neuronal migration is one of the pivotal steps to form a functional brain, and disorganization of this process is believed to underlie the pathology of psychiatric disorders including schizophrenia, autism spectrum disorders (ASD) and epilepsy. However, it is not clear how abnormal neuronal migration causes mental dysfunction. Recently, a key gene for various psychiatric diseases, the Autism susceptibility candidate 2 (AUTS2), has been shown to regulate neuronal migration, which gives new insight into understanding this question...
May 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28503624/temporary-efficacy-of-pyrimethamine-in-juvenile-onset-tay-sachs-disease-caused-by-2-unreported-hexa-mutations-in-the-indian-population
#16
Anaita Udwadia-Hegde, Omkar Hajirnis
BACKGROUND: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. PATIENT: We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28501706/upward-counterfactual-thinking-and-depression-a-meta-analysis
#17
REVIEW
Anne Gene Broomhall, Wendy J Phillips, Donald W Hine, Natasha M Loi
This meta-analysis examined the strength of association between upward counterfactual thinking and depressive symptoms. Forty-two effect sizes from a pooled sample of 13,168 respondents produced a weighted average effect size of r=.26, p<.001. Moderator analyses using an expanded set of 96 effect sizes indicated that upward counterfactuals and regret produced significant positive effects that were similar in strength. Effects also did not vary as a function of the theme of the counterfactual-inducing situation or study design (cross-sectional versus longitudinal)...
April 27, 2017: Clinical Psychology Review
https://www.readbyqxmd.com/read/28498595/etiology-in-psychiatry-embracing-the-reality-of-poly-gene-environmental-causation-of-mental-illness
#18
Rudolf Uher, Alyson Zwicker
Intriguing findings on genetic and environmental causation suggest a need to reframe the etiology of mental disorders. Molecular genetics shows that thousands of common and rare genetic variants contribute to mental illness. Epidemiological studies have identified dozens of environmental exposures that are associated with psychopathology. The effect of environment is likely conditional on genetic factors, resulting in gene-environment interactions. The impact of environmental factors also depends on previous exposures, resulting in environment-environment interactions...
June 2017: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
https://www.readbyqxmd.com/read/28497380/from-gene-to-behavior-l-type-calcium-channel-mechanisms-underlying-neuropsychiatric-symptoms
#19
REVIEW
Zeeba D Kabir, Arlene Martínez-Rivera, Anjali M Rajadhyaksha
The L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and plasticity. In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder...
May 11, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28495490/further-evidence-for-the-association-between-lrp8-and-schizophrenia
#20
Xiao Xiao, Hao Yu, Jun Li, Lu Wang, Lingyi Li, Hong Chang, Dai Zhang, Weihua Yue, Ming Li
Previous studies (including genome-wide association study (GWAS) and candidate gene studies) have revealed the important roles of genetic risk factors in schizophrenia, and RELN has been identified as a risk gene for this illness. We recently found that the low-density lipoprotein receptor-related protein 8 (LRP8), a receptor of Reelin (the protein encoded by RELN), was significantly associated with schizophrenia and bipolar disorder in European populations. To further enhance our understanding of its role in the risk of psychiatric illnesses, we conducted meta-analyses of a higher density of single nucleotide polymorphisms (SNPs, N=173) in LRP8 to understand their associations with schizophrenia in much larger samples (39,400 cases and 50,357 controls) from populations of European, Chinese and African American ancestries...
May 8, 2017: Schizophrenia Research
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