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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/27868347/identification-of-extreme-motor-phenotypes-in-huntington-s-disease
#1
Ulrike Braisch, Birgit Hay, Rainer Muche, Dietrich Rothenbacher, G Bernhard Landwehrmeyer, Jeffrey D Long, Michael Orth
The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits...
November 21, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27862943/blood-transcriptomic-comparison-of-individuals-with-and-without-autism-spectrum-disorder-a-combined-samples-mega-analysis
#2
Daniel S Tylee, Jonathan L Hess, Thomas P Quinn, Rahul Barve, Hailiang Huang, Yanli Zhang-James, Jeffrey Chang, Boryana S Stamova, Frank R Sharp, Irva Hertz-Picciotto, Stephen V Faraone, Sek Won Kong, Stephen J Glatt
Blood-based microarray studies comparing individuals affected with autism spectrum disorder (ASD) and typically developing individuals help characterize differences in circulating immune cell functions and offer potential biomarker signal. We sought to combine the subject-level data from previously published studies by mega-analysis to increase the statistical power. We identified studies that compared ex vivo blood or lymphocytes from ASD-affected individuals and unrelated comparison subjects using Affymetrix or Illumina array platforms...
November 11, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27781389/genetic-variants-associated-with-risk-of-alzheimer-s-disease-contribute-to-cognitive-change-in-midlife-the-atherosclerosis-risk-in-communities-study
#3
Jan Bressler, Thomas H Mosley, Alan Penman, Rebecca F Gottesman, Beverly Gwen Windham, David S Knopman, Lisa M Wruck, Eric Boerwinkle
Alzheimer's disease (AD) is the most common form of dementia and is characterized by impairment in memory, behavioral changes, and gradual loss of autonomy. Since there is a long latent period prior to diagnosis, the aim of this study was to determine whether twenty single nucleotide polymorphisms identified in genome-wide association analyses of AD are associated with cognitive change in 8,320 white and 2,039 African-American middle-aged adults enrolled in the prospective Atherosclerosis Risk in Communities (ARIC) study...
October 26, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27774759/psychopathology-in-7-year-old-children-differences-in-maternal-and-paternal-ratings-and-the-genetic-epidemiology
#4
Laura W Wesseldijk, Iryna O Fedko, Meike Bartels, Michel G Nivard, Catharina E M van Beijsterveldt, Dorret I Boomsma, Christel M Middeldorp
The assessment of children's psychopathology is often based on parental report. Earlier studies have suggested that rater bias can affect the estimates of genetic, shared environmental and unique environmental influences on differences between children. The availability of a large dataset of maternal as well as paternal ratings of psychopathology in 7-year old children enabled (i) the analysis of informant effects on these assessments, and (ii) to obtain more reliable estimates of the genetic and non-genetic effects...
October 24, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27770499/genetic-factors-in-neurodegenerative-diseases
#5
Debby W Tsuang, Thomas D Bird
No abstract text is available yet for this article.
October 22, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27770494/paternal-age-and-psychiatric-disorders-a-review
#6
Hilde de Kluiver, Jacobine E Buizer-Voskamp, Conor V Dolan, Dorret I Boomsma
We review the hypotheses concerning the association between the paternal age at childbearing and childhood psychiatric disorders (autism spectrum- and attention deficit/hyperactive disorder) and adult disorders (schizophrenia, bipolar-, obsessive-compulsive-, and major depressive disorder) based on epidemiological studies. Several hypotheses have been proposed to explain the paternal age effect. We discuss the four main-not mutually exclusive-hypotheses. These are the de novo mutation hypothesis, the hypothesis concerning epigenetic alterations, the selection into late fatherhood hypothesis, and the environmental resource hypothesis...
October 22, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27762075/sex-specific-linkage-scans-in-opioid-dependence
#7
Bao-Zhu Yang, Shizhong Han, Henry R Kranzler, Abraham A Palmer, Joel Gelernter
Sex influences risk for opioid dependence (OD). We hypothesized that sex might interact with genetic loci that influence the risk for OD. Therefore we performed an analysis to identify sex-specific genomic susceptibility regions for OD using linkage. Over 6,000 single nucleotide polymorphism (SNP) markers were genotyped for 1,758 African- and European-American (AA and EA) individuals from 739 families, ascertained via affected sib-pairs with OD and/or cocaine dependence. Autosomewide non-parametric linkage scans, stratified by sex and population, were performed...
October 20, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27696737/highly-polygenic-architecture-of-antidepressant-treatment-response-comparative-analysis-of-ssri-and-nri-treatment-in-an-animal-model-of-depression
#8
Karim Malki, Maria Grazia Tosto, Héctor Mouriño-Talín, Sabela Rodríguez-Lorenzo, Oliver Pain, Irfan Jumhaboy, Tina Liu, Panos Parpas, Stuart Newman, Artem Malykh, Lucia Carboni, Rudolf Uher, Peter McGuffin, Leonard C Schalkwyk, Kevin Bryson, Mark Herbster
Response to antidepressant (AD) treatment may be a more polygenic trait than previously hypothesized, with many genetic variants interacting in yet unclear ways. In this study we used methods that can automatically learn to detect patterns of statistical regularity from a sparsely distributed signal across hippocampal transcriptome measurements in a large-scale animal pharmacogenomic study to uncover genomic variations associated with AD. The study used four inbred mouse strains of both sexes, two drug treatments, and a control group (escitalopram, nortriptyline, and saline)...
October 1, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27870314/genetic-and-environmental-contributions-to-the-inverse-association-between-specific-autistic-traits-and-experience-seeking-in-adults
#9
Ángel Romero-Martínez, Luís Moya-Albiol, Anna A E Vinkhuyzen, Tinca J C Polderman
No abstract text is available yet for this article.
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27762073/cognitive-analysis-of-schizophrenia-risk-genes-that-function-as-epigenetic-regulators-of-gene-expression
#10
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...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27753212/methamphetamine-induced-psychosis-is-associated-with-dna-hypomethylation-and-increased-expression-of-akt1-and-key-dopaminergic-genes
#11
Shabnam Nohesara, Mohammad Ghadirivasfi, Mahmood Barati, Mohammad-Reza Ghasemzadeh, Samira Narimani, Zohreh Mousavi-Behbahani, Mohammadtaghi Joghataei, Mansoureh Soleimani, Mozhgan Taban, Soraya Mehrabi, Sam Thiagalingam, Hamid Mostafavi Abdolmaleky
Methamphetamine, one of the most frequently used illicit drugs worldwide, can induce psychosis in a large fraction of abusers and it is becoming a major problem for the health care institutions. There is some evidence that genetic and epigenetic factors may play roles in methamphetamine psychosis. In this study, we examined methamphetamine-induced epigenetic and expression changes of several key genes involved in psychosis. RNA and DNA extracted from the saliva samples of patients with methamphetamine dependency with and without psychosis as well as control subjects (each group 25) were analyzed for expression and promoter DNA methylation status of DRD1, DRD2, DRD3, DRD4, MB-COMT, GAD1, and AKT1 using qRT-PCR and q-MSP, respectively...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27727512/replication-analyses-of-four-chromosomal-deletions-with-schizophrenia-via-independent-large-scale-meta-analyses
#12
Hong Chang, Lingyi Li, Tao Peng, Ming Li, Lei Gao, Xiao Xiao
Recent studies suggest that copy number variations (CNVs) are also involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 18,497 schizophrenia patients and 25,522 healthy controls from 14 independent samples, we conducted replication analyses of four chromosomal deletions at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 Loci for their associations with schizophrenia. Only CNVs larger than 100 kb that had >50% reciprocal overlap with the canonical deletion chromosomal regions were considered...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27714917/personality-traits-in-huntington-s-disease-an-exploratory-study-of-gene-expansion-carriers-and-non-carriers
#13
Ida Unmack Larsen, Erik Lykke Mortensen, Tua Vinther-Jensen, Jørgen Erik Nielsen, Gitte Moos Knudsen, Asmus Vogel
Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27626775/genetic-analysis-of-chchd2-gene-in-chinese-parkinson-s-disease
#14
Nan-Nan Li, Ling Wang, Eng-King Tan, Lan Cheng, Xiao-Yi Sun, Zhong-Jiao Lu, Jun-Ying Li, Jin-Hong Zhang, Rong Peng
Recently, mutations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene have been identified in Japanese families with autosomal dominant Parkinson's disease (PD) and two single nucleotide variants (rs10043 and Pro2Leu) increased risk of sporadic PD. The role of CHCHD2 in PD susceptibility in other Asian populations still remains to be clarified. In a large Chinese cohort from mainland China (31 familial PD patients, 1,027 sporadic PD patients, and 1,095 health controls), we examined the association of rs10043 and Pro2Leu variants in CHCHD2 with PD...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27619075/iq-and-hemizygosity-for-the-val-158-met-functional-polymorphism-of-comt-in-22q11ds
#15
Colleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, Meghan A McNamara, Harold Salmons, Edward Moss, Raquel E Gur, Marcella Devoto, Beverly S Emanuel
22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by a hemizygous deletion within 22q11.2. Patients with the deletion display a wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in the typically deleted region of 22q11.2 and is rendered hemizygous in individuals affected by the 22q11DS. COMT is a critical enzyme in the degradation of catecholamine neurotransmitters in the brain. A functional polymorphism, Val(158) Met, has been associated with a variety of neurocognitive outcomes...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27615674/psychiatric-disorders-among-women-with-the%C3%A2-fragile-x-premutation-without-children-affected-by-fragile-x-syndrome
#16
Amy Gossett, Stephanie Sansone, Andrea Schneider, Cindy Johnston, Randi Hagerman, Flora Tassone, Susan M Rivera, Andreea L Seritan, David Hessl
Several studies have demonstrated increased rates of anxiety and depressive disorders among female carriers of the fragile X premutation. However, the majority of these studies focused on mothers of children with fragile X syndrome, who experience higher rates of parenting stress that may contribute to the emergence of these disorders. The present study compared psychiatric symptom presentation (utilizing measures of current symptoms and lifetime DSM-IV Axis I disorders) in 24 female carriers without affected children (mean age = 32...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27604972/apolipoprotein-e-genotypes-and-plasma-levels-in-mild-cognitive-impairment-conversion-to-alzheimer-s-disease-a-follow-up-study
#17
Daniela Scarabino, Elisabetta Broggio, Giuseppe Gambina, Carlotta Maida, Maria Rosa Gaudio, Rosa Maria Corbo
Mild cognitive impairment (MCI) is the transition stage between the normal aging process and dementia itself. The most common clinical phenotype is amnestic MCI (aMCI) [subtypes: single domain (sMCI) and multiple domains (mMCI)], which is considered prodromal to Alzheimer's disease (AD). The APOE (apolipoprotein E) e4 allele is the most important genetic risk factor for AD, but its association with MCI onset and conversion to AD is controversial. In this follow-up study of 88 aMCI patients (68% sMCI and 32% mMCI at baseline), we examined APOE genotypes and plasma levels in relation to MCI development and progression based on their clinical/cognitive data obtained at baseline and follow-up assessment (mean follow-up time = 6...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27573710/mutations-modifying-sporadic-alzheimer-s-disease-age-of-onset
#18
Jorge I Vélez, Francisco Lopera, Hardip R Patel, Angad S Johar, Yeping Cai, Dora Rivera, Carlos Tobón, Andrés Villegas, Diego Sepulveda-Falla, Shaun G Lehmann, Simon Easteal, Claudio A Mastronardi, Mauricio Arcos-Burgos
The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27573569/two-stage-additional-evidence-support-association-of-common-variants-in-the-hdac3-with-the-increasing-risk-of-schizophrenia-susceptibility
#19
Xiaodi Jia, Tianxiao Zhang, Lu Li, Dongke Fu, Huali Lin, Gang Chen, Xinshe Liu, Fanglin Guan
Schizophrenia (SCZ) is a complex neuropsychiatric disorder with high heritability. Abnormal gene methylation was found to play a key role in the development of SCZ, suggesting that histone deacetylases (HDACs) may increase the expression of several key genes in the brain. However, recent studies evaluating the association between SCZ and genetic polymorphisms in histone deacetylase 3 (encoded by HDAC3) have shown conflicting results. In this study, we designed a two-stage case-control study to investigate the association of the HDAC3 with SCZ...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27566550/recurrent-15q11-2-bp1-bp2-microdeletions-and-microduplications-in-the-etiology-of-neurodevelopmental-disorders
#20
Chiara Picinelli, Carla Lintas, Ignazio Stefano Piras, Stefano Gabriele, Roberto Sacco, Claudia Brogna, Antonio Maria Persico
Rare and common CNVs can contribute to the etiology of neurodevelopmental disorders. One of the recurrent genomic aberrations associated with these phenotypes and proposed as a susceptibility locus is the 15q11.2 BP1-BP2 CNV encompassing TUBGCP5, CYFIP1, NIPA2, and NIPA1. Characterizing by array-CGH a cohort of 243 families with various neurodevelopmental disorders, we identified five patients carrying the 15q11.2 duplication and one carrying the deletion. All CNVs were confirmed by qPCR and were inherited, except for one duplication where parents were not available...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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