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Psychiatric Genetics

C Perez-Becerril, A G Morris, A Mortimer, P J McKenna, J de Belleroche
Previously, we found a significant gender-specific association of schizophrenia, in a UK case/control study, with SLC30A3, a candidate that is consistently down-regulated in schizophrenia in two independent cohorts. In view of the potential significance of this finding, we extended this study to a larger cohort using GWAS data from the Psychiatric Genetic Consortium (PGC). Meta-analysis was performed for the only two SLC30A3 SNP variants (rs11126936 and rs11126929) available in most PGC cohorts. A significant association with schizophrenia was found for both variants...
September 28, 2016: Psychiatry Research
E Rizos, N Siafakas, E Skourti, C Papageorgiou, J Tsoporis, T H Parker, D I Christodoulou, D A Spandidos, E Katsantoni, V Zoumpourlis
Schizophrenia (SZ) and cancer (Ca) have a broad spectrum of clinical phenotypes and a complex biological background, implicating a large number of genetic and epigenetic factors. SZ is a chronic neurodevelopmental disorder signified by an increase in the expression of apoptotic molecular signals, whereas Ca is conversely characterized by an increase in appropriate molecular signaling that stimulates uncontrolled cell proliferation. The rather low risk of developing Ca in patients suffering from SZ is a hypothesis that is still under debate...
October 14, 2016: Molecular Medicine Reports
Mark B Warren, Kathryn M Schak
A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management...
October 15, 2016: Journal of Genetic Counseling
M-N Babinet, C Rigard, É Peyroux, A-R Dragomir, I Plotton, H Lejeune, C Demily
INTRODUCTION: The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms...
October 12, 2016: L'Encéphale
Olympia Gianfrancesco, Vivien J Bubb, John P Quinn
Many facets of human behaviour are likely to have developed in part due to evolutionary changes in the regulation of neuropeptide and other brain-related genes. This has allowed species-specific expression patterns and unique epigenetic modulation in response to our environment, regulating response not only at the molecular level, but also contributing to differences in behaviour between individuals. As such, genetic variants or epigenetic changes that may alter neuropeptide gene expression are predicted to play a role in behavioural conditions and psychiatric illness...
October 11, 2016: Neuropeptides
Chelsie E Benca, Jaime L Derringer, Robin P Corley, Susan E Young, Matthew C Keller, John K Hewitt, Naomi P Friedman
Executive functions (EFs) have been proposed as an endophenotype for psychopathology because EF deficits are associated with most psychiatric disorders. To examine this hypothesis, we derived polygenic risk scores for autism, attention-deficit/hyperactive disorder (ADHD), bipolar disorder, major depression (MDD), and schizophrenia, using genome-wide data from the Psychiatric Genomics Consortium as discovery samples. We then examined the relationships between these polygenic risk scores and three separable EF components measured with a latent variable model...
October 14, 2016: Behavior Genetics
Nicholas J Bradshaw, Mirian A F Hayashi
NDE1 (Nuclear Distribution Element 1, also known as NudE) and NDEL1 (NDE-Like 1, also known as NudEL) are the mammalian homologues of the fungus nudE gene, with important and at least partially overlapping roles for brain development. While a large number of studies describe the various properties and functions of these proteins, many do not directly compare the similarities and differences between NDE1 and NDEL1. Although sharing a high degree structural similarity and multiple common cellular roles, each protein presents several distinct features that justify their parallel but also unique functions...
October 14, 2016: Cellular and Molecular Life Sciences: CMLS
Frederik Vandenberghe, Núria Saigí-Morgui, Aurélie Delacrétaz, Lina Quteineh, Séverine Crettol, Nicolas Ansermot, Mehdi Gholam-Rezaee, Armin von Gunten, Philippe Conus, Chin B Eap
BACKGROUND: Psychotropic drugs can induce significant (>5%) weight gain (WG) already after 1 month of treatment, which is a good predictor for major WG at 3 and 12 months. The large interindividual variability of drug-induced WG can be explained in part by genetic and clinical factors. AIM: The aim of this study was to determine whether extensive analysis of genes, in addition to clinical factors, can improve prediction of patients at risk for more than 5% WG at 1 month of treatment...
October 12, 2016: Pharmacogenetics and Genomics
Ian R Gizer
Epidemiologic studies demonstrating high rates of co-occurrence among psychiatric disorders at the population level have contributed to large literatures focused on identifying the causal mechanisms underlying the patterns of co-occurrence among these disorders. Such efforts have long represented a core focus of developmental psychopathologists and have more recently been supported by the Research Domain Criteria initiative developed by the NIMH, which provides a further framework for how the hypothesized mechanisms can be studied at different levels of analysis...
November 2016: Development and Psychopathology
Tulio Guadalupe, Samuel R Mathias, Theo G M vanErp, Christopher D Whelan, Marcel P Zwiers, Yoshinari Abe, Lucija Abramovic, Ingrid Agartz, Ole A Andreassen, Alejandro Arias-Vásquez, Benjamin S Aribisala, Nicola J Armstrong, Volker Arolt, Eric Artiges, Rosa Ayesa-Arriola, Vatche G Baboyan, Tobias Banaschewski, Gareth Barker, Mark E Bastin, Bernhard T Baune, John Blangero, Arun L W Bokde, Premika S W Boedhoe, Anushree Bose, Silvia Brem, Henry Brodaty, Uli Bromberg, Samantha Brooks, Christian Büchel, Jan Buitelaar, Vince D Calhoun, Dara M Cannon, Anna Cattrell, Yuqi Cheng, Patricia J Conrod, Annette Conzelmann, Aiden Corvin, Benedicto Crespo-Facorro, Fabrice Crivello, Udo Dannlowski, Greig I de Zubicaray, Sonja M C de Zwarte, Ian J Deary, Sylvane Desrivières, Nhat Trung Doan, Gary Donohoe, Erlend S Dørum, Stefan Ehrlich, Thomas Espeseth, Guillén Fernández, Herta Flor, Jean-Paul Fouche, Vincent Frouin, Masaki Fukunaga, Jürgen Gallinat, Hugh Garavan, Michael Gill, Andrea Gonzalez Suarez, Penny Gowland, Hans J Grabe, Dominik Grotegerd, Oliver Gruber, Saskia Hagenaars, Ryota Hashimoto, Tobias U Hauser, Andreas Heinz, Derrek P Hibar, Pieter J Hoekstra, Martine Hoogman, Fleur M Howells, Hao Hu, Hilleke E Hulshoff Pol, Chaim Huyser, Bernd Ittermann, Neda Jahanshad, Erik G Jönsson, Sarah Jurk, Rene S Kahn, Sinead Kelly, Bernd Kraemer, Harald Kugel, Jun Soo Kwon, Herve Lemaitre, Klaus-Peter Lesch, Christine Lochner, Michelle Luciano, Andre F Marquand, Nicholas G Martin, Ignacio Martínez-Zalacaín, Jean-Luc Martinot, David Mataix-Cols, Karen Mather, Colm McDonald, Katie L McMahon, Sarah E Medland, José M Menchón, Derek W Morris, Omar Mothersill, Susana Munoz Maniega, Benson Mwangi, Takashi Nakamae, Tomohiro Nakao, Janardhanan C Narayanaswaamy, Frauke Nees, Jan E Nordvik, A Marten H Onnink, Nils Opel, Roel Ophoff, Marie-Laure Paillère Martinot, Dimitri Papadopoulos Orfanos, Paul Pauli, Tomáš Paus, Luise Poustka, Janardhan Yc Reddy, Miguel E Renteria, Roberto Roiz-Santiáñez, Annerine Roos, Natalie A Royle, Perminder Sachdev, Pascual Sánchez-Juan, Lianne Schmaal, Gunter Schumann, Elena Shumskaya, Michael N Smolka, Jair C Soares, Carles Soriano-Mas, Dan J Stein, Lachlan T Strike, Roberto Toro, Jessica A Turner, Nathalie Tzourio-Mazoyer, Anne Uhlmann, Maria Valdés Hernández, Odile A van den Heuvel, Dennis van der Meer, Neeltje E M van Haren, Dick J Veltman, Ganesan Venkatasubramanian, Nora C Vetter, Daniella Vuletic, Susanne Walitza, Henrik Walter, Esther Walton, Zhen Wang, Joanna Wardlaw, Wei Wen, Lars T Westlye, Robert Whelan, Katharina Wittfeld, Thomas Wolfers, Margaret J Wright, Jian Xu, Xiufeng Xu, Je-Yeon Yun, JingJing Zhao, Barbara Franke, Paul M Thompson, David C Glahn, Bernard Mazoyer, Simon E Fisher, Clyde Francks
The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen...
October 13, 2016: Brain Imaging and Behavior
Laszlo Szpisjak, Nora Zsindely, Jozsef I Engelhardt, Laszlo Vecsei, Gabor G Kovacs, Peter Klivenyi
AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic resonance imaging (MRI) indicated extensive white matter abnormalities. The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing...
October 13, 2016: Journal of Human Genetics
Kelly E Gill, Stephanie A Cardenas, Layla Kassem, Thomas G Schulze, Francis J McMahon
BACKGROUND: Anabaptists comprise large and growing Amish and Mennonite populations with a unique genetic heritage and cultural background. Little is known about the symptoms and course of major mood disorders in Anabaptists. Even less is known about the impact of potential moderators on symptom severity and course. METHODS: A sample of Amish and Mennonite participants with bipolar, recurrent unipolar, or schizoaffective bipolar disorder (n = 155) were systematically evaluated with a well-validated instrument...
December 2016: International Journal of Bipolar Disorders
Wouter J Peyrot, Matthew R Robinson, Brenda W J H Penninx, Naomi R Wray
Importance: Considerable partner resemblances have been found for a wide range of psychiatric disorders, meaning that partners of affected individuals have an increased risk of being affected compared with partners of unaffected individuals. If this resemblance is reflected in genetic similarity between partners, genetic risk is anticipated to accumulate in offspring, but these potential consequences have not been quantified and have been left implicit. Observations: The anticipated consequences of partner resemblance on prevalence and heritability of psychiatric traits in the offspring generation were modeled for disorders with varying heritabilities, population prevalence (lifetime risk), and magnitudes of partner resemblance...
October 12, 2016: JAMA Psychiatry
Laura Borrello, Chiara Cupidi, Valentina Laganà, Maria Anfossi, Maria Elena Conidi, Nicoletta Smirne, Maria Taverniti, Roberto Guarasci, Amalia Cecilia Bruni
The rebuilding of the N family, a large Italian kindred affected by early-onset autosomal dominant Alzheimer's disease (AD), provided an important contribution to the discovery of Presenilin 1 (PSEN1), the main gene responsible for familial AD. This pedigree was identified with the help of medical records from the archives of the Psychiatric Hospital of Girifalco, Italy. The clinical record of Angela R., an ancestor of the N family, dating back to 1904, showed a clinical picture of Angela R., consistent with a diagnosis of non-amnestic probable AD, matching the "dysexecutive" phenotype described in her descendants...
October 11, 2016: Journal of Neurology
Trevor Humby, Ellen S Cross, Lauren Messer, Silvia Guerrero, William Davies
Postpartum psychosis (PP) is a severe psychiatric disorder affecting a small proportion of new mothers shortly after childbirth. The molecular pathophysiology underlying the disorder is currently poorly understood, and there are no amenable animal models for the condition; maternal deficiency for the enzyme steroid sulfatase has been proposed as a potential risk mechanism. Here we show that inhibition of steroid sulfatase with 667-COUMATE (10mg/kg p.o.) in new mouse mothers results in behavioural abnormalities that can be partially alleviated by the administration of the clinically-efficacious antipsychotic ziprasidone (0...
September 28, 2016: Psychoneuroendocrinology
A Loughman, N A Bendrups, W J D'Souza
Psychiatric disorders and associated poor psychosocial outcomes are recognised to be a common sequelae of epilepsy. The extent to which this is true of genetic generalised epilepsies (GGE), particularly syndromes other than juvenile myoclonic epilepsy (JME) is unclear. This systematic review synthesises findings regarding psychiatric and associated comorbidities in adults and children with GGE. Systematic review yielded 34 peer-reviewed studies of psychiatric and psychosocial outcomes in adults and children with GGE...
October 10, 2016: Neuropsychology Review
L I Schmitt, M M Halassa
While localizing sensory and motor deficits is one of the cornerstones of clinical neurology, behavioral and cognitive deficits in psychiatry remain impervious to this approach. In psychiatry, major challenges include the relative subtlety by which neural circuits are perturbed, and the limited understanding of how basic circuit functions relate to thought and behavior. Neurodevelopmental disorders offer a window to addressing the first challenge given their strong genetic underpinnings, which can be linked to biological mechanisms...
October 11, 2016: Molecular Psychiatry
P H Lee, J T Baker, A J Holmes, N Jahanshad, T Ge, J-Y Jung, Y Cruz, D S Manoach, D P Hibar, J Faskowitz, K L McMahon, G I de Zubicaray, N H Martin, M J Wright, D Öngür, R Buckner, J Roffman, P M Thompson, J W Smoller
Schizophrenia is a devastating neurodevelopmental disorder with a complex genetic etiology. Widespread cortical gray matter loss has been observed in patients and prodromal samples. However, it remains unresolved whether schizophrenia-associated cortical structure variations arise due to disease etiology or secondary to the illness. Here we address this question using a partitioning-based heritability analysis of genome-wide single-nucleotide polymorphism (SNP) and neuroimaging data from 1750 healthy individuals...
October 11, 2016: Molecular Psychiatry
Kayoko Matsunami, Nao Nishida, Naoko Kaneko, Kazuho Ikeo, Licht Toyo-Oka, Hiroshi Takeuchi, Kentaro Matsuura, Akihiro Tamori, Hideyuki Nomura, Hitoshi Yoshiji, Masatoshi Imamura, Naohiko Masaki, Tatsuro Hayakawa, Tatsuya Ide, Noritomo Shimada, Fusao Ikeda, Keisuke Hino, Shuhei Nishiguchi, Chiaki Okuse, Shunsuke Nojiri, Kazunobu Sawamoto, Katsushi Tokunaga, Takashi Joh, Yasuhito Tanaka
The therapeutic use of interferon (IFN) is known to cause depression that frequently interrupts treatment. To identify genetic variants associated with IFN-induced depression, we conducted a genome-wide association study (GWAS) of 224 Japanese chronic hepatitis C patients receiving IFN-based therapy in a multicenter prospective study and stratified them into two groups according to the Beck Depression Inventory, Second Edition (BDI-II) score. In the GWAS stage, we selected 42 candidate single nucleotide polymorphisms (SNPs) to perform replication analysis in an independent set of 160 subjects...
2016: PloS One
Riaz Abdulla, Rouchelle Charmaine Tellis, Roshan Athikari, Jagadish Kudkuli
CONTEXT: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. AIMS: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
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