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Psychiatric Genetics

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https://www.readbyqxmd.com/read/29778275/quantifying-the-effects-of-16p11-2-copy-number-variants-on-brain-structure-a-multisite-genetic-first-study
#1
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi, Nicole R Zürcher, Philippe Conus, Wendy K Chung, Elliott H Sherr, John E Spiro, Ferath Kherif, Jacques S Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L Buckner, Bogdan Draganski, Sébastien Jacquemont
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV...
March 27, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#2
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#3
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29773518/developmental-trajectories-of-brain-maturation-and-behavior-relevance-to-major-mental-illnesses
#4
REVIEW
Sedona Lockhart, Akira Sawa, Minae Niwa
Adverse events in childhood and adolescence, such as social neglect or drug abuse, are known to lead to behavioral changes in young adulthood. This is particularly true for the subset of people who are intrinsically more vulnerable to stressful conditions. Yet the underlying mechanisms for such developmental trajectory from early life insult to aberrant adult behavior remains elusive. Adolescence is a period of dynamic physiological, psychological, and behavioral changes, encompassing a distinct neurodevelopmental stage called the 'critical period'...
May 3, 2018: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/29769613/genetic-variant-for-behavioral-regulation-factor-of-executive-function-and-its-possible-brain-mechanism-in-attention-deficit-hyperactivity-disorder
#5
Xiao Sun, Zhaomin Wu, Qingjiu Cao, Ying Qian, Yong Liu, Binrang Yang, Suhua Chang, Li Yang, Yufeng Wang
As a childhood-onset psychiatric disorder, attention deficit hyperactivity disorder (ADHD) is complicated by phenotypic and genetic heterogeneity. Lifelong executive function deficits in ADHD are described in many literatures and have been proposed as endophenotypes of ADHD. However, its genetic basis is still elusive. In this study, we performed a genome-wide association study of executive function, rated with Behavioral Rating Inventory of Executive Function (BRIEF), in ADHD children. We identified one significant variant (rs852004, P = 2...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29764998/mapping-cortical-brain-asymmetry-in-17-141-healthy-individuals-worldwide-via-the-enigma-consortium
#6
Xiang-Zhen Kong, Samuel R Mathias, Tulio Guadalupe, David C Glahn, Barbara Franke, Fabrice Crivello, Nathalie Tzourio-Mazoyer, Simon E Fisher, Paul M Thompson, Clyde Francks
Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right...
May 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29761020/tested-and-reported-executive-problems-in-children-and-youth-epilepsy
#7
Erik Hessen, Kristin Å Alfstad, Halvor Torgersen, Morten I Lossius
Objectives: Executive problems in children and youth with epilepsy influence their ability to handle important aspects of daily life activities. The present study sought to explore factors associated with executive problems for patients with epilepsy in this age group. Methods: The cohort consisted of 97 consecutive patients at the National Centre for Epilepsy in Norway, aged 10-19 years, with focal or genetic generalized epilepsy. All underwent tests of executive functions (D-KEFS), the Behavior Rating Inventory for Executive Function (BRIEF), and screening for psychiatric symptoms, using the Strengths and Difficulties Questionnaire (SDQ)...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29760952/downregulation-of-the-psychiatric-susceptibility-gene-cacna1c-promotes-mitochondrial-resilience-to-oxidative-stress-in-neuronal-cells
#8
Susanne Michels, Goutham K Ganjam, Helena Martins, Gerhard M Schratt, Markus Wöhr, Rainer K W Schwarting, Carsten Culmsee
Affective disorders such as major depression and bipolar disorder are among the most prevalent forms of mental illness and their etiologies involve complex interactions between genetic and environmental risk factors. Over the past ten years, several genome wide association studies (GWAS) have identified CACNA1C as one of the strongest genetic risk factors for the development of affective disorders. However, its role in disease pathogenesis is still largely unknown. Vulnerability to affective disorders also involves diverse environmental risk factors such as perinatal insults, childhood maltreatment, and other adverse pathophysiological or psychosocial life events...
2018: Cell Death Discovery
https://www.readbyqxmd.com/read/29760667/a-drd2-annk1-comt-interaction-consisting-of-functional-variants-confers-risk-of-post-traumatic-stress-disorder-in-traumatized-chinese
#9
Kunlin Zhang, Li Wang, Chengqi Cao, Gen Li, Ruojiao Fang, Ping Liu, Shu Luo, Xiangyang Zhang, Israel Liberzon
Objective: Post-traumatic stress disorder (PTSD) is a trauma- and stress-related psychiatric syndrome that occurs after exposure to extraordinary stressors. The neurotransmitter dopamine (DA) plays important roles in neurobiological processes like reward and stress, and a link between PTSD and the dopaminergic system has been reported. Thus, the investigation of an association between PTSD and gene-gene interaction (epistasis) within dopaminergic genes could uncover the genetic basis of dopamine-related PTSD symptomatology and contribute to precision medicine...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29760654/failure-to-replicate-the-association-between-fractional-anisotropy-and-the-serotonin-transporter-gene-5-httlpr-rs25531
#10
Tim Klucken, Isabell Tapia León, Carlo Blecker, Onno Kruse, Tobias Stalder, Rudolf Stark
Recent work underlines the importance of alterations in white matter (e.g., measured by fractional anisotropy (FA)) as a neural vulnerability marker for psychiatric disorders. In this context, the uncinate fasciculus (UF), which connects the limbic system with prefrontal areas, has repeatedly been linked to psychiatric disorders, fear processing, and anxiety-related traits. Individual differences in FA may partly be genetically determined. Variation in the promoter region of the serotonin transporter gene (serotonin transporter-linked polymorphic region [5-HTTLPR]) is a particularly promising candidate in this context, which has been linked to psychiatric disorders as well as to limbic and prefrontal reactivity...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#11
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29755375/influence-of-crhr1-polymorphisms-and-childhood-abuse-on-suicide-attempts-in-affective-disorders-a-gxe-approach
#12
Birgit Ludwig, Klemens Kienesberger, Laura Carlberg, Patrick Swoboda, Alexandra Bernegger, Romina Koller, Qingzhong Wang, Michelle Inaner, Melanie Zotter, Nestor D Kapusta, Helmuth Haslacher, Martin Aigner, Siegfried Kasper, Alexandra Schosser
Background: Previous studies have shown that the hypothalamus-pituitary-adrenal-axis (HPA-axis) is closely involved in the development of affective disorders. Given that early life events are also linked to dysregulation of the same system, there might be an association between childhood adversities and suicidal behavior in affective disorders, moderated by HPA-axis genes. We aimed to investigate a potential association between childhood trauma and previous suicide attempts in affective disorder patients, moderated by variants of the corticotropin-releasing hormone receptor 1 (CRHR1) gene...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29754766/estimation-of-genetic-correlation-via-linkage-disequilibrium-score-regression-and-genomic-restricted-maximum-likelihood
#13
Guiyan Ni, Gerhard Moser, Naomi R Wray, S Hong Lee
Genetic correlation is a key population parameter that describes the shared genetic architecture of complex traits and diseases. It can be estimated by current state-of-art methods, i.e., linkage disequilibrium score regression (LDSC) and genomic restricted maximum likelihood (GREML). The massively reduced computing burden of LDSC compared to GREML makes it an attractive tool, although the accuracy (i.e., magnitude of standard errors) of LDSC estimates has not been thoroughly studied. In simulation, we show that the accuracy of GREML is generally higher than that of LDSC...
April 26, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#14
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29751511/the-relationship-between-sleep-problems-neurobiological-alterations-core-symptoms-of-autism-spectrum-disorder-and-psychiatric-comorbidities
#15
REVIEW
Luigi Mazzone, Valentina Postorino, Martina Siracusano, Assia Riccioni, Paolo Curatolo
Children with Autism Spectrum Disorder (ASD) are at an increased risk for sleep disturbances, and studies indicate that between 50 and 80% of children with ASD experience sleep problems. These problems increase parental stress and adversely affect family quality of life. Studies have also suggested that sleep disturbances may increase behavioral problems in this clinical population. Although understanding the causes of sleep disorders in ASD is a clinical priority, the causal relationship between these two conditions remains unclear...
May 3, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29748770/a-systematic-review-of-associations-between-functional-mri-activity-and-polygenic-risk-for-schizophrenia-and-bipolar-disorder
#16
REVIEW
Zalina Dezhina, Siri Ranlund, Marinos Kyriakopoulos, Steve C R Williams, Danai Dima
Genetic factors account for up to 80% of the liability for schizophrenia (SCZ) and bipolar disorder (BD). Genome-wide association studies have successfully identified several genes associated with increased risk for both disorders. This has allowed researchers to model the aggregate effect of genes associated with disease status and create a polygenic risk score (PGRS) for each individual. The interest in imaging genetics using PGRS has grown in recent years, with several studies now published. We have conducted a systematic review to examine the effects of PGRS of SCZ, BD and cross psychiatric disorders on brain function and connectivity using fMRI data...
May 10, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29747656/maternal-drug-use-and-the-risk-of-anorectal-malformations-systematic-review-and-meta-analysis
#17
REVIEW
Nadine Zwink, Ekkehart Jenetzky
BACKGROUND: Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically. METHODS: Studies published between 1977 and April 2017 were reviewed through systematic search in PubMed, ISI Web of Knowledge and Scopus databases. Furthermore, related and cross-referencing publications were reviewed...
May 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29746646/corticostriatal-connectivity-in-antisocial-personality-disorder-by-mao-a-genotype-and-its-relationship-to-aggressive-behavior
#18
Nathan J Kolla, Katharine Dunlop, Jeffrey H Meyer, Jonathan Downar
Background: The influence of genetic variation on resting-state neural networks represents a burgeoning line of inquiry in psychiatric research. Monoamine oxidase A, an X-linked gene, is one example of a molecular target linked to brain activity in psychiatric illness. Monoamine oxidase A genetic variants, including the high and low variable nucleotide tandem repeat polymorphisms, have been shown to differentially affect brain functional connectivity in healthy humans. However, it is currently unknown whether these same polymorphisms influence resting-state brain activity in clinical conditions...
May 9, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29745699/maladaptive-personality-traits-and-romantic-relationship-satisfaction-a-monozygotic-co-twin-control-analysis
#19
Sylia Wilson, Irene J Elkins, Jessica L Bair, Victoria C Oleynick, Stephen M Malone, Matt McGue, William G Iacono
The recent inclusion of an alternative model for personality disorders in the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5; American Psychiatric Association, 2013a) highlights the importance of extreme variants of personality for psychopathology. The maladaptive personality traits described in the alternative model comprise 5 higher-order domains and 25 lower-order facets that capture pathological levels of personality. The present report adds to a growing body of research on the implications of maladaptive personality traits for functioning by demonstrating significant associations between each of the higher-order domains (Negative Affect, Detachment, Antagonism, Disinhibition, and Psychoticism) and most of the lower-order facets and lower romantic relationship satisfaction in a population-based sample of 284 monozygotic (MZ) adult twins...
May 2018: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/29744956/imaging-resilience-and-recovery-in-alcohol-dependence
#20
REVIEW
Katrin Charlet, Annika Rosenthal, Falk W Lohoff, Andreas Heinz, Anne Beck
BACKGROUND AND AIMS: Resilience and recovery are of increasing importance in the field of alcohol dependence (AD). This paper describes how imaging studies in man can be used to assess the neurobiological correlates of resilience and, if longitudinal, of disease trajectories, progression rates and markers for recovery to inform treatment and prevention options. METHODS: Original articles on recovery and resilience in alcohol addiction and its neurobiological correlates were identified from 'PubMed' and have been analyzed and condensed within a systematic literature review...
May 9, 2018: Addiction
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