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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/28719003/mutation-intolerant-genes-and-targets-of-fmrp-are-enriched-for-nonsynonymous-alleles-in-schizophrenia
#1
Ganna Leonenko, Alexander L Richards, James T Walters, Andrew Pocklington, Kimberly Chambert, Mariam M Al Eissa, Sally I Sharp, Niamh L O'Brien, David Curtis, Nicholas J Bass, Andrew McQuillin, Christina Hultman, Jennifer L Moran, Steven A McCarroll, Pamela Sklar, Benjamin M Neale, Peter A Holmans, Michael J Owen, Patrick F Sullivan, Michael C O'Donovan
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls)...
July 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28699694/the-epigenomics-of-schizophrenia-in-the-mouse
#2
REVIEW
Behnam Javidfar, Royce Park, Bibi S Kassim, Lucy K Bicks, Schahram Akbarian
Large-scale consortia including the Psychiatric Genomics Consortium, the Common Minds Consortium, BrainSeq and PsychENCODE, and many other studies taken together provide increasingly detailed insights into the genetic and epigenetic risk architectures of schizophrenia (SCZ) and offer vast amounts of molecular information, but with largely unexplored therapeutic potential. Here we discuss how epigenomic studies in human brain could guide animal work to test the impact of disease-associated alterations in chromatin structure and function on cognition and behavior...
July 12, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28696057/optimizing-the-chances-of-success-in-the-search-for-epigenetic-biomarkers-embracing-genetic-variation
#3
REVIEW
Robert Philibert, Stephen J Glatt
The emphasis on clinical translation in biomedical research continues to grow. This focus has been particularly notable in those investigators using epigenetic approaches to decipher the biology of complex behavioral disorders. As a result of these efforts, reproducible findings for several disorders, such as smoking, have been generated, giving rise to hopes that biomarkers for other behavioral illnesses would be forthcoming. Unfortunately, that biomedical cornucopia has not yet materialized. In this editorial, we review progress to date and discuss barriers to generating epigenetic biomarkers for complex behavioral disorders...
July 11, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28691784/epigenome-wide-association-of-ptsd-from-heterogeneous-cohorts-with-a-common-multi-site-analysis-pipeline
#4
Andrew Ratanatharathorn, Marco P Boks, Adam X Maihofer, Allison E Aiello, Ananda B Amstadter, Allison E Ashley-Koch, Dewleen G Baker, Jean C Beckham, Evelyn Bromet, Michelle Dennis, Melanie E Garrett, Elbert Geuze, Guia Guffanti, Michael A Hauser, Varun Kilaru, Nathan A Kimbrel, Karestan C Koenen, Pei-Fen Kuan, Mark W Logue, Benjamin J Luft, Mark W Miller, Colter Mitchell, Nicole R Nugent, Kerry J Ressler, Bart P F Rutten, Murray B Stein, Eric Vermetten, Christiaan H Vinkers, Nagy A Youssef, Monica Uddin, Caroline M Nievergelt, Alicia K Smith
Compelling evidence suggests that epigenetic mechanisms such as DNA methylation play a role in stress regulation and in the etiologic basis of stress related disorders such as Post traumatic Stress Disorder (PTSD). Here we describe the purpose and methods of an international consortium that was developed to study the role of epigenetics in PTSD. Inspired by the approach used in the Psychiatric Genomics Consortium, we brought together investigators representing seven cohorts with a collective sample size of N = 1147 that included detailed information on trauma exposure, PTSD symptoms, and genome-wide DNA methylation data...
July 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28691768/microbiome-inflammation-epigenetic-alterations-and-mental-diseases
#5
REVIEW
Reza Alam, Hamid M Abdolmaleky, Jin-Rong Zhou
Major mental diseases such as autism, bipolar disorder, schizophrenia, and major depressive disorder are debilitating illnesses with complex etiologies. Recent findings show that the onset and development of these illnesses cannot be well described by the one-gene; one-disease approach. Instead, their clinical presentation is thought to result from the regulative interplay of a large number of genes. Even though the involvement of many genes are likely, up regulating and activation or down regulation and silencing of these genes by the environmental factors play a crucial role in contributing to their pathogenesis...
July 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28686353/national-scale-precision-medicine-for-psychiatric-disorders-in-sweden
#6
REVIEW
Sarah E Bergen, Patrick F Sullivan
Since psychiatric disorders have genetic architectures dominated by common variants of small effects, successful elucidation in psychiatric genetics necessitates large sample sizes. Collaboration and unconventional ascertainment methods are required to fulfill this need. Electronic health records have been increasingly seen as holding great potential for research, although they often pose substantial technical, legal and ethical challenges. Universal health care and national-scale registers with comprehensive medical, developmental, demographic, and geographic information make the Nordic countries ideal for psychiatric genetic epidemiology...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28686333/ehealth-provides-a-novel-opportunity-to-exploit-the-advantages-of-the-nordic-countries-in-psychiatric-genetic-research-building-on-the-public-health-care-system-biobanks-and-registries
#7
REVIEW
Ole A Andreassen
Nordic countries have played an important role in the recent progress in psychiatric genetics, both with large well-characterized samples and expertise. The Nordic countries have research advantages due to the organization of their societies, including system of personal identifiers, national health registries with information about diseases, treatment and prescriptions, and a public health system with geographical catchment areas. For psychiatric genetic research, the large biobanks and population surveys are a unique added value...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28686328/genetically-contextual-effects-of-smoking-on-genome-wide-dna-methylation
#8
Meeshanthini V Dogan, Steven R H Beach, Robert A Philibert
Smoking is the leading cause of death in the United States. It exerts its effects by increasing susceptibility to a variety of complex disorders among those who smoke, and if pregnant, to their unborn children. In prior efforts to understand the epigenetic mechanisms through which this increased vulnerability is conveyed, a number of investigators have conducted genome wide methylation analyses. Unfortunately, secondary to methodological limitations, these studies were unable to examine methylation in gene regions with significant amounts of genetic variation...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28686326/single-nucleotide-polymorphisms-in-genes-related-to-the-hypothalamic-pituitary-adrenal-axis-as-risk-factors-for-posttraumatic-stress-disorder
#9
REVIEW
Carolina M Carvalho, Bruno M Coimbra, Vanessa K Ota, Marcelo F Mello, Sintia I Belangero
Posttraumatic stress disorder (PTSD) is a common psychiatric disorder. The etiology of PTSD is multifactorial, depending on many environmental and genetic risk factors, and the exposure to life or physical integrity-threatening events. Several studies have shown significant correlations of many neurobiological findings with PTSD. Hypothalamic-pituitary-adrenal (HPA) axis dysfunction is strongly correlated with this disorder. One hypothesis is that HPA axis dysfunction may precede the traumatic event, suggesting that genes expressed in the HPA axis may be involved in the development of PTSD...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608626/serotonergic-5httlpr-rs25531-s-allele-homozygosity-associates-with-violent-suicides-in-male-citalopram-users
#10
Anna-Liina Rahikainen, Salla Majaharju, Jari Haukka, Jukka U Palo, Antti Sajantila
Depressive disorders are involved as a background factor in over 50% of suicide cases. The most widely used antidepressants today are serotonin selective reuptake inhibitors (SSRIs). However, not all users benefit from SSRI medication. Although the overall number of suicides in Finland have decreased notably during the last decade, the annual rate is still relatively high, particularly in male population. In this study, we tested the hypothesis that the genetic variants associated with decreased citalopram efficiency, 5HTTLPR/rs25531, and increased impulsive behavior, MAOA-uVNTR and HTR2B Q20*, are more frequent among citalopram users committing suicide than among the citalopram users in general...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608620/genome-wide-association-study-of-facial-emotion-recognition-in-children-and-association-with-polygenic-risk-for-mental-health-disorders
#11
Jonathan R I Coleman, Kathryn J Lester, Robert Keers, Marcus R Munafò, Gerome Breen, Thalia C Eley
Emotion recognition is disrupted in many mental health disorders, which may reflect shared genetic aetiology between this trait and these disorders. We explored genetic influences on emotion recognition and the relationship between these influences and mental health phenotypes. Eight-year-old participants (n = 4,097) from the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Diagnostic Analysis of Non-Verbal Accuracy (DANVA) faces test. Genome-wide genotype data was available from the Illumina HumanHap550 Quad microarray...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608575/association-between-comt-val158met-and-psychiatric-disorders-a-comprehensive-meta-analysis
#12
Steven Taylor
Catechol-O-methyltransferase (COMT) Val158Met is widely regarded as potentially important for understanding the genetic etiology of many different psychiatric disorders. The present study appears to be the first comprehensive meta-analysis of COMT genetic association studies to cover all psychiatric disorders for which there were available data, published in any language, and with an emphasis on investigating disorder subtypes (defined clinically or by demographic or other variables). Studies were included if they reported one or more datasets (i...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#13
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28557351/the-highly-pleiotropic-gene-slc39a8-as-an-opportunity-to-gain-insight-into-the-molecular-pathogenesis-of-schizophrenia
#14
REVIEW
Javier Costas
There is a long way from the initial discovery of a genome-wide significant signal to mechanistic understanding of the association. Identification of the gene and causal polymorphism usually requires an extensive additional effort. The schizophrenia genome-wide significant locus at 4q24 may be a rare exception to this pattern. As discussed in this review, the association at this locus is most probably driven by a functional missense variant at the metal cations transporter SLC39A8. The variant, rs13107325, is almost exclusive of European populations and is one of the most pleiotropic variants of the genome, being associated at genome-wide significant level with several additional traits, such as body mass index, Crohn's disease, blood pressure related-traits, and serum levels of manganese, N-terminal pro-B-type natriuretic peptide and HDL-cholesterol...
May 30, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28557243/the-use-of-electronic-health-records-for-psychiatric-phenotyping-and-genomics
#15
REVIEW
Jordan W Smoller
The widespread adoption of electronic health record (EHRs) in healthcare systems has created a vast and continuously growing resource of clinical data and provides new opportunities for population-based research. In particular, the linking of EHRs to biospecimens and genomic data in biobanks may help address what has become a rate-limiting study for genetic research: the need for large sample sizes. The principal roadblock to capitalizing on these resources is the need to establish the validity of phenotypes extracted from the EHR...
May 30, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28556497/a-genome-wide-quantitative-trait-locus-qtl-linkage-scan-of-neo-personality-factors-in-latino-families-segregating-bipolar-disorder
#16
Byung Dae Lee, Suzanne Gonzalez, Erika Villa, Cynthia Camarillo, Marco Rodriguez, Yin Yao, Wei Guo, Deborah Flores, Alvaro Jerez, Henriette Raventos, Alfonso Ontiveros, Humberto Nicolini, Michael Escamilla
Personality traits have been suggested as potential endophenotypes for Bipolar Disorder (BP), as they can be quantitatively measured and show correlations with BP. The present study utilized data from 2,745 individuals from 686 extended pedigrees originally ascertained for having multiplex cases of BP (963 cases of BPI or schizoaffective BP). Subjects were assessed with the NEO Personality Inventory, Revised (NEO PI-R) and genotyped using the Illumina HumanLinkage-24 Bead Chip, with an average genetic coverage of 0...
May 29, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28556469/neuregulin-3-and-its-roles-in-schizophrenia-risk-and-presentation
#17
REVIEW
Dimitrios Avramopoulos
Neuregulins, a four-member family of epidermal growth factor-like signaling molecules, have been studied for over two decades. They were first implicated in schizophrenia in 2002 with the detection of linkage and association at the NRG1 locus followed after a few years by NRG3. However, the associations with disease have not been very consistently observed. In contrast, association of NGR3 variants with disease presentation, specifically the presence of delusions, has been more consistent. This appears to be mediated by quantitative changes in the alternative splicing of the gene, which has also been consistently observed...
May 29, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28548708/glucocerebrosidase-mutations-and-neuropsychiatric-phenotypes-in-parkinson-s-disease-and-lewy-body-dementias-review-and-meta-analyses
#18
REVIEW
Byron Creese, Emily Bell, Iskandar Johar, Paul Francis, Clive Ballard, Dag Aarsland
Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Recently, there has been a considerable focus on the relationship between GBA mutations and emergence of cognitive impairment and neuropsychiatric symptoms in these diseases. Here, we review the literature in this area, with a particular focus, including meta-analysis, on the key neuropsychiatric symptoms of cognitive impairment, psychosis, and depression in Parkinson's disease...
May 26, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28544755/a-gene-based-review-of-rgs4-as-a-putative-risk-gene-for-psychiatric-illness
#19
REVIEW
Emanuel Schwarz
Considerable efforts have been made to characterize RGS4 as a potential candidate gene for schizophrenia. Investigations span across numerous modalities and include explorations of genetic risk associations, mRNA and protein levels in the brain, and functionally relevant interactions with other candidate genes as well as links to schizophrenia relevant neural phenotypes. While these lines of investigations have yielded partially inconsistent findings, they provide a perspective on RGS4 as an important part of a larger biological system contributing to schizophrenia risk...
May 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512750/genetic-risk-variants-for-social-anxiety
#20
Murray B Stein, Chia-Yen Chen, Sonia Jain, Kevin P Jensen, Feng He, Steven G Heeringa, Ronald C Kessler, Adam Maihofer, Matthew K Nock, Stephan Ripke, Xiaoying Sun, Michael L Thomas, Robert J Ursano, Jordan W Smoller, Joel Gelernter
No abstract text is available yet for this article.
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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