Literature DB >> 29998117

Recent Advances in the Genetics of Schizophrenia.

Dimitrios Avramopoulos1,2.   

Abstract

The last decade brought tremendous progress in the field of schizophrenia genetics. As a result of extensive collaborations and multiple technological advances, we now recognize many types of genetic variants that increase the risk. These include large copy number variants, rare coding inherited and de novο variants, and over 100 loci harboring common risk variants. While the type and contribution to the risk vary among genetic variants, there is concordance in the functions of genes they implicate, such as those whose RNA binds the fragile X-related protein FMRP and members of the activity-regulated cytoskeletal complex involved in learning and memory. Gene expression studies add important information on the biology of the disease and recapitulate the same functional gene groups. Studies of alternative phenotypes help us widen our understanding of the genetic architecture of mental function and dysfunction, how diseases overlap not only with each other but also with non-disease phenotypes. The challenge is to apply this new knowledge to prevention and treatment and help patients. The data generated so far and emerging technologies, including new methods in cell engineering, offer significant promise that in the next decade we will unlock the translational potential of these significant discoveries.

Entities:  

Keywords:  Copy number variation; Endophenotypes; Gene editing; Gene expression; Genetic variation; Genome-wide association studies; Psychosis; Transcriptome; de novo mutations

Year:  2018        PMID: 29998117      PMCID: PMC6032037          DOI: 10.1159/000488679

Source DB:  PubMed          Journal:  Mol Neuropsychiatry        ISSN: 2296-9179


  177 in total

1.  Investigation of the prenatal expression patterns of 108 schizophrenia-associated genetic loci.

Authors:  Rebecca Birnbaum; Andrew E Jaffe; Qiang Chen; Thomas M Hyde; Joel E Kleinman; Daniel R Weinberger
Journal:  Biol Psychiatry       Date:  2014-10-22       Impact factor: 13.382

2.  Rare chromosomal deletions and duplications increase risk of schizophrenia.

Authors: 
Journal:  Nature       Date:  2008-07-30       Impact factor: 49.962

3.  Reprogramming of human somatic cells to pluripotency with defined factors.

Authors:  In-Hyun Park; Rui Zhao; Jason A West; Akiko Yabuuchi; Hongguang Huo; Tan A Ince; Paul H Lerou; M William Lensch; George Q Daley
Journal:  Nature       Date:  2007-12-23       Impact factor: 49.962

4.  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Authors:  Nicola Brunetti-Pierri; Jonathan S Berg; Fernando Scaglia; John Belmont; Carlos A Bacino; Trilochan Sahoo; Seema R Lalani; Brett Graham; Brendan Lee; Marwan Shinawi; Joseph Shen; Sung-Hae L Kang; Amber Pursley; Timothy Lotze; Gail Kennedy; Susan Lansky-Shafer; Christine Weaver; Elizabeth R Roeder; Theresa A Grebe; Georgianne L Arnold; Terry Hutchison; Tyler Reimschisel; Stephen Amato; Michael T Geragthy; Jeffrey W Innis; Ewa Obersztyn; Beata Nowakowska; Sally S Rosengren; Patricia I Bader; Dorothy K Grange; Sayed Naqvi; Adolfo D Garnica; Saunder M Bernes; Chin-To Fong; Anne Summers; W David Walters; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Ankita Patel
Journal:  Nat Genet       Date:  2008-12       Impact factor: 38.330

5.  Genome-wide association study identifies five new schizophrenia loci.

Authors: 
Journal:  Nat Genet       Date:  2011-09-18       Impact factor: 38.330

6.  Effects of environmental risks and polygenic loading for schizophrenia on cortical thickness.

Authors:  Emma Neilson; Catherine Bois; Jude Gibson; Barbara Duff; Andrew Watson; Neil Roberts; Nicholas J Brandon; John Dunlop; Jeremy Hall; Andrew M McIntosh; Heather C Whalley; Stephen M Lawrie
Journal:  Schizophr Res       Date:  2016-12-15       Impact factor: 4.939

7.  Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

Authors:  Michel Guipponi; Federico A Santoni; Vincent Setola; Corinne Gehrig; Maud Rotharmel; Macarena Cuenca; Olivier Guillin; Dimitris Dikeos; Georgios Georgantopoulos; George Papadimitriou; Logos Curtis; Alexandre Méary; Franck Schürhoff; Stéphane Jamain; Dimitri Avramopoulos; Marion Leboyer; Dan Rujescu; Ann Pulver; Dominique Campion; David P Siderovski; Stylianos E Antonarakis
Journal:  PLoS One       Date:  2014-11-24       Impact factor: 3.240

8.  Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Authors:  E Rees; G Kirov; J T Walters; A L Richards; D Howrigan; D H Kavanagh; A J Pocklington; M Fromer; D M Ruderfer; L Georgieva; N Carrera; P Gormley; P Palta; H Williams; S Dwyer; J S Johnson; P Roussos; D D Barker; E Banks; V Milanova; S A Rose; K Chambert; M Mahajan; E M Scolnick; J L Moran; M T Tsuang; S J Glatt; W J Chen; H-G Hwu; B M Neale; A Palotie; P Sklar; S M Purcell; S A McCarroll; P Holmans; M J Owen; M C O'Donovan
Journal:  Transl Psychiatry       Date:  2015-07-21       Impact factor: 6.222

9.  Microduplications of 16p11.2 are associated with schizophrenia.

Authors:  Shane E McCarthy; Vladimir Makarov; George Kirov; Anjene M Addington; Jon McClellan; Seungtai Yoon; Diana O Perkins; Diane E Dickel; Mary Kusenda; Olga Krastoshevsky; Verena Krause; Ravinesh A Kumar; Detelina Grozeva; Dheeraj Malhotra; Tom Walsh; Elaine H Zackai; Paige Kaplan; Jaya Ganesh; Ian D Krantz; Nancy B Spinner; Patricia Roccanova; Abhishek Bhandari; Kevin Pavon; B Lakshmi; Anthony Leotta; Jude Kendall; Yoon-Ha Lee; Vladimir Vacic; Sydney Gary; Lilia M Iakoucheva; Timothy J Crow; Susan L Christian; Jeffrey A Lieberman; T Scott Stroup; Terho Lehtimäki; Kaija Puura; Chad Haldeman-Englert; Justin Pearl; Meredith Goodell; Virginia L Willour; Pamela Derosse; Jo Steele; Layla Kassem; Jessica Wolff; Nisha Chitkara; Francis J McMahon; Anil K Malhotra; James B Potash; Thomas G Schulze; Markus M Nöthen; Sven Cichon; Marcella Rietschel; Ellen Leibenluft; Vlad Kustanovich; Clara M Lajonchere; James S Sutcliffe; David Skuse; Michael Gill; Louise Gallagher; Nancy R Mendell; Nick Craddock; Michael J Owen; Michael C O'Donovan; Tamim H Shaikh; Ezra Susser; Lynn E Delisi; Patrick F Sullivan; Curtis K Deutsch; Judith Rapoport; Deborah L Levy; Mary-Claire King; Jonathan Sebat
Journal:  Nat Genet       Date:  2009-10-25       Impact factor: 38.330

10.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

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  21 in total

1.  Transcriptional Changes following Cellular Knockdown of the Schizophrenia Risk Gene SETD1A Are Enriched for Common Variant Association with the Disorder.

Authors:  Darren Cameron; Derek J Blake; Nicholas J Bray; Matthew J Hill
Journal:  Mol Neuropsychiatry       Date:  2019-03-25

Review 2.  Modeling Psychiatric Disorder Biology with Stem Cells.

Authors:  Debamitra Das; Kyra Feuer; Marah Wahbeh; Dimitrios Avramopoulos
Journal:  Curr Psychiatry Rep       Date:  2020-04-21       Impact factor: 5.285

3.  Schizophrenia-derived hiPSC brain microvascular endothelial-like cells show impairments in angiogenesis and blood-brain barrier function.

Authors:  Bárbara S Casas; Gabriela Vitória; Catalina P Prieto; Mariana Casas; Carlos Chacón; Markus Uhrig; Fernando Ezquer; Marcelo Ezquer; Stevens K Rehen; Verónica Palma
Journal:  Mol Psychiatry       Date:  2022-06-15       Impact factor: 15.992

4.  Introducing Complex Psychiatry.

Authors:  Joel Gelernter; Renato Polimanti
Journal:  Complex Psychiatry       Date:  2020-05-14

5.  The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain.

Authors:  Robert G Mealer; Sarah E Williams; Maxence Noel; Bo Yang; Alexandria K D'Souza; Toru Nakata; Daniel B Graham; Elizabeth A Creasey; Murat Cetinbas; Ruslan I Sadreyev; Edward M Scolnick; Christina M Woo; Jordan W Smoller; Ramnik J Xavier; Richard D Cummings
Journal:  Mol Psychiatry       Date:  2022-03-08       Impact factor: 13.437

Review 6.  Kalirin and Trio: RhoGEFs in Synaptic Transmission, Plasticity, and Complex Brain Disorders.

Authors:  Jeremiah D Paskus; Bruce E Herring; Katherine W Roche
Journal:  Trends Neurosci       Date:  2020-05-11       Impact factor: 13.837

Review 7.  Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.

Authors:  Robert G Mealer; Sarah E Williams; Mark J Daly; Edward M Scolnick; Richard D Cummings; Jordan W Smoller
Journal:  Mol Psychiatry       Date:  2020-05-06       Impact factor: 15.992

Review 8.  Illusions, Delusions, and Your Backwards Bayesian Brain: A Biased Visual Perspective.

Authors:  Richard T Born; Gianluca M Bencomo
Journal:  Brain Behav Evol       Date:  2021-03-30       Impact factor: 1.808

9.  DNA Methylation as a Biomarker of Treatment Response Variability in Serious Mental Illnesses: A Systematic Review Focused on Bipolar Disorder, Schizophrenia, and Major Depressive Disorder.

Authors:  Charanraj Goud Alladi; Bruno Etain; Frank Bellivier; Cynthia Marie-Claire
Journal:  Int J Mol Sci       Date:  2018-10-04       Impact factor: 5.923

10.  Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.

Authors:  Chia-Hsiang Chen; Min-Chih Cheng; Ailing Huang; Tsung-Ming Hu; Lieh-Yung Ping; Yu-Syuan Chang
Journal:  Front Genet       Date:  2020-05-08       Impact factor: 4.599

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