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Heritable disorders

A R Docherty, A Moscati, R Peterson, A C Edwards, D E Adkins, S A Bacanu, T B Bigdeli, B T Webb, J Flint, K S Kendler
Biometrical genetic studies suggest that the personality dimensions, including neuroticism, are moderately heritable (~0.4 to 0.6). Quantitative analyses that aggregate the effects of many common variants have recently further informed genetic research on European samples. However, there has been limited research to date on non-European populations. This study examined the personality dimensions in a large sample of Han Chinese descent (N=10 064) from the China, Oxford, and VCU Experimental Research on Genetic Epidemiology study, aimed at identifying genetic risk factors for recurrent major depression among a rigorously ascertained cohort...
October 25, 2016: Translational Psychiatry
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
M-L Wong, M Arcos-Burgos, S Liu, J I Vélez, C Yu, B T Baune, M C Jawahar, V Arolt, U Dannlowski, A Chuah, G A Huttley, R Fogarty, M D Lewis, S R Bornstein, J Licinio
Major depressive disorder (MDD) affects around 350 million people worldwide; however, the underlying genetic basis remains largely unknown. In this study, we took into account that MDD is a gene-environment disorder, in which stress is a critical component, and used whole-genome screening of functional variants to investigate the 'missing heritability' in MDD. Genome-wide association studies (GWAS) using single- and multi-locus linear mixed-effect models were performed in a Los Angeles Mexican-American cohort (196 controls, 203 MDD) and in a replication European-ancestry cohort (499 controls, 473 MDD)...
October 25, 2016: Molecular Psychiatry
Katsuto Tamai, Jouni Uitto
Epidermolysis bullosa is a group of heritable skin fragility disorders with considerable morbidity and mortality. It is known to be caused by mutations in as many as 18 distinct genes, but there is no specific or effective treatment. Preclinical developments of gene correction, protein replacement, and cell-based approaches for treatment have suggested new therapeutic avenues, and some of them, including bone marrow transplantation and mesenchymal stem cell therapy, have entered into early clinical trials. Hammersen et al...
November 2016: Journal of Investigative Dermatology
Malik Nassan, Qingqin Li, Paul E Croarkin, Wenan Chen, Colin L Colby, Marin Veldic, Susan L McElroy, Gregory D Jenkins, Euijung Ryu, Julie M Cunningham, Marion Leboyer, Mark A Frye, Joanna M Biernacka
BACKGROUND: Although multiple genes have been implicated in bipolar disorder (BD), they explain only a small proportion of its heritability. Identifying additional BD risk variants may be impaired by phenotypic heterogeneity, which is usually not taken into account in genome-wide association studies (GWAS). BD with early age at onset is a more homogeneous familial form of the disorder associated with greater symptom severity. METHODS: We conducted a GWAS of early-onset BD (onset of mania/hypomania ≤19 years old) in a discovery sample of 419 cases and 1034 controls and a replication sample of 181 cases and 777 controls...
September 30, 2016: Journal of Affective Disorders
Elena Sokolova, Perry Groot, Tom Claassen, Kimm J van Hulzen, Jeffrey C Glennon, Barbara Franke, Tom Heskes, Jan Buitelaar
BACKGROUND: Numerous factor analytic studies consistently support a distinction between two symptom domains of attention-deficit/hyperactivity disorder (ADHD), inattention and hyperactivity/impulsivity. Both dimensions show high internal consistency and moderate to strong correlations with each other. However, it is not clear what drives this strong correlation. The aim of this paper is to address this issue. METHOD: We applied a sophisticated approach for causal discovery on three independent data sets of scores of the two ADHD dimensions in NeuroIMAGE (total N = 675), ADHD-200 (N = 245), and IMpACT (N = 164), assessed by different raters and instruments, and further used information on gender or a genetic risk haplotype...
2016: PloS One
Ola Ozernov-Palchik, Xi Yu, Yingying Wang, Nadine Gaab
Dyslexia is a heritable reading disorder with an estimated prevalence of 5-17%. A multiple deficit model has been proposed that illustrates dyslexia as an outcome of multiple risks and protective factors interacting at the genetic, neural, cognitive, and environmental levels. Here we review the evidence on each of these levels and discuss possible underlying mechanisms and their reciprocal interactions along a developmental timeline. Current and potential implications of neuroscientific findings for contemporary challenges in the field of dyslexia, as well as for reading development and education in general, are then discussed...
August 2016: Current Opinion in Behavioral Sciences
Hye-Young Jung, Sangseob Leem, Sungyoung Lee, Taesung Park
BACKGROUND: Gene-gene interaction (GGI) is one of the most popular approaches for finding the missing heritability of common complex traits in genetic association studies. The multifactor dimensionality reduction (MDR) method has been widely studied for detecting GGIs. In order to identify the best interaction model associated with disease susceptibility, MDR compares all possible genotype combinations in terms of their predictability of disease status from a simple binary high(H) and low(L) risk classification...
September 29, 2016: Computational Biology and Chemistry
Susanna Lemmelä, Svetlana Solovieva, Rahman Shiri, Christian Benner, Markku Heliövaara, Johannes Kettunen, Verneri Anttila, Samuli Ripatti, Markus Perola, Ilkka Seppälä, Markus Juonala, Mika Kähönen, Veikko Salomaa, Jorma Viikari, Olli T Raitakari, Terho Lehtimäki, Aarno Palotie, Eira Viikari-Juntura, Kirsti Husgafvel-Pursiainen
Sciatica or the sciatic syndrome is a common and often disabling low back disorder in the working-age population. It has a relatively high heritability but poorly understood molecular mechanisms. The Finnish population is a genetic isolate where small founder population and bottleneck events have led to enrichment of certain rare and low frequency variants. We performed here the first genome-wide association (GWAS) and meta-analysis of sciatica. The meta-analysis was conducted across two GWAS covering 291 Finnish sciatica cases and 3671 controls genotyped and imputed at 7...
2016: PloS One
Laura Whitton, Donna Cosgrove, Christopher Clarkson, Denise Harold, Kimberley Kendall, Alex Richards, Kiran Mantripragada, Michael J Owen, Michael C O'Donovan, James Walters, Annette Hartmann, Betina Konte, Dan Rujescu, Michael Gill, Aiden Corvin, Stephen Rea, Gary Donohoe, Derek W Morris
Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These processes when perturbed are thought to contribute to schizophrenia pathophysiology. A core feature of schizophrenia is cognitive dysfunction. For genetic disorders where cognitive impairment is more severe such as intellectual disability, there are a disproportionally high number of genes involved in the epigenetic regulation of gene transcription...
October 20, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
T Zayats, K K Jacobsen, R Kleppe, C P Jacob, S Kittel-Schneider, M Ribasés, J A Ramos-Quiroga, V Richarte, M Casas, N R Mota, E H Grevet, M Klein, J Corominas, J Bralten, T Galesloot, A A Vasquez, S Herms, A J Forstner, H Larsson, G Breen, P Asherson, S Gross-Lesch, K P Lesch, S Cichon, M B Gabrielsen, O L Holmen, C H D Bau, J Buitelaar, L Kiemeney, S V Faraone, B Cormand, B Franke, A Reif, J Haavik, S Johansson
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable childhood-onset neuropsychiatric condition, often persisting into adulthood. The genetic architecture of ADHD, particularly in adults, is largely unknown. We performed an exome-wide scan of adult ADHD using the Illumina Human Exome Bead Chip, which interrogates over 250 000 common and rare variants. Participants were recruited by the International Multicenter persistent ADHD CollaboraTion (IMpACT). Statistical analyses were divided into 3 steps: (1) gene-level analysis of rare variants (minor allele frequency (MAF)<1%); (2) single marker association tests of common variants (MAF⩾1%), with replication of the top signals; and (3) pathway analyses...
October 18, 2016: Translational Psychiatry
Peter Nilsson
A number of chronic disease conditions tend to cluster in families with an increased risk in first-degree relatives, but also an increased risk in second-degree relatives. This fact is most often referred to as the heritability (heredity) of these diseases and explained by the influence of genetic factors, or shared environment, even if the more specific details or mechanism leading to disease are not known. New methods have to be explored in screening studies and register linkage studies to define and measure consequences of a positive family history of disease...
September 2016: Journal of Hypertension
Armita Kakavand Hamidi, Mohammad Moghaddam, Nasim Hatamnejadian, Ahmad Ebrahimi
OBJECTIVES: Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII collagen gene is the only responsible gene for this form. The aim of this study was to survey causative mutations of type VII collagen gene among Iranian patients with epidermolysis bullosa...
August 2016: Iranian Journal of Basic Medical Sciences
Imranul Alam, Amie K McQueen, Dena Acton, Austin M Reilly, Rita L Gerard-O'Riley, Dana K Oakes, Charishma Kasipathi, Abigail Huffer, Weston B Wright, Michael J Econs
Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic bone disorder due to dysfunctional osteoclast activity. ADO2 is caused by missense mutations in the chloride channel 7 (CLCN7) gene characterized by osteosclerosis with multiple fractures. ADO2 can result in osteomyelitis, visual loss and bone marrow failure. Currently, there is no cure for ADO2, and until recently no appropriate animal model of ADO2 existed to understand better the pathogenesis of this disease and to test new therapies...
October 14, 2016: Bone
Jiani Yin, Christian P Schaaf
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model...
October 15, 2016: Prenatal Diagnosis
Frank Qiu, Hagop S Akiskal, John R Kelsoe, Tiffany A Greenwood
BACKGROUND: Temperament and personality traits have been suggested as endophenotypes for bipolar disorder based on several lines of evidence, including heritability. Previous work suggested an anxious-reactive factor identified across temperament and personality inventories that produced significant group discrimination and could potentially be useful in genetic analyses. We have attempted to further characterize this factor structure in a sample of bipolar patients. METHODS: A sample of 1195 subjects with bipolar I disorder was evaluated, all with complete data available...
October 2, 2016: Journal of Affective Disorders
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
Guozhu Ye, Yajie Chen, Hong-Ou Wang, Ting Ye, Yi Lin, Qiansheng Huang, Yulang Chi, Sijun Dong
Tetrabromobisphenol A and tetrachlorobisphenol A are halogenated bisphenol A (H-BPA), and has raised concerns about their adverse effects on the development of fetuses and infants, however, the molecular mechanisms are unclear, and related metabolomics studies are limited. Accordingly, a metabolomics study based on gas chromatography-mass spectrometry was employed to elucidate the molecular developmental toxicology of H-BPA using the marine medaka (Oryzias melastigmas) embryo model. Here, we revealed decreased synthesis of nucleosides, amino acids and lipids, and disruptions in the TCA (tricarboxylic acid) cycle, glycolysis and lipid metabolism, thus inhibiting the developmental processes of embryos exposed to H-BPA...
October 13, 2016: Scientific Reports
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
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