Literature DB >> 24177465

The genomics of schizophrenia: update and implications.

Paola Giusti-Rodríguez, Patrick F Sullivan.   

Abstract

Schizophrenia is strongly familial yet rarely (if ever) exhibits classical Mendelian inheritance patterns. The advent of large-scale genotyping and sequencing projects has yielded large data sets with higher statistical power in an effort to uncover new associations with schizophrenia. Here, we review the challenges in dissecting the genetics of schizophrenia and provide an update of the current understanding of the underlying genomics. We discuss the breadth of susceptibility alleles, including those that may occur with low frequency and high disease risk, such as the 22q11.2 hemideletion, as well as alleles that may occur with greater frequency but convey a lower risk of schizophrenia, such as variants in genes encoding subunits of the voltage-gated L-type calcium channel. Finally, we provide an overview of the clinical implications for the diagnosis and treatment of schizophrenia based on progress in understanding the underlying genetic basis.

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Year:  2013        PMID: 24177465      PMCID: PMC3809776          DOI: 10.1172/JCI66031

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  98 in total

Review 1.  CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Authors:  Dheeraj Malhotra; Jonathan Sebat
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

2.  High frequencies of de novo CNVs in bipolar disorder and schizophrenia.

Authors:  Dheeraj Malhotra; Shane McCarthy; Jacob J Michaelson; Vladimir Vacic; Katherine E Burdick; Seungtai Yoon; Sven Cichon; Aiden Corvin; Sydney Gary; Elliot S Gershon; Michael Gill; Maria Karayiorgou; John R Kelsoe; Olga Krastoshevsky; Verena Krause; Ellen Leibenluft; Deborah L Levy; Vladimir Makarov; Abhishek Bhandari; Anil K Malhotra; Francis J McMahon; Markus M Nöthen; James B Potash; Marcella Rietschel; Thomas G Schulze; Jonathan Sebat
Journal:  Neuron       Date:  2011-12-22       Impact factor: 17.173

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

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

4.  Common variants on chromosome 6p22.1 are associated with schizophrenia.

Authors:  Jianxin Shi; Douglas F Levinson; Jubao Duan; Alan R Sanders; Yonglan Zheng; Itsik Pe'er; Frank Dudbridge; Peter A Holmans; Alice S Whittemore; Bryan J Mowry; Ann Olincy; Farooq Amin; C Robert Cloninger; Jeremy M Silverman; Nancy G Buccola; William F Byerley; Donald W Black; Raymond R Crowe; Jorge R Oksenberg; Daniel B Mirel; Kenneth S Kendler; Robert Freedman; Pablo V Gejman
Journal:  Nature       Date:  2009-07-01       Impact factor: 49.962

Review 5.  Schizophrenia and sudden cardiac death: a review.

Authors:  Hannu Koponen; Antti Alaräisänen; Kaisa Saari; Olavi Pelkonen; Heikki Huikuri; M J Pekka Raatikainen; Markku Savolainen; Matti Isohanni
Journal:  Nord J Psychiatry       Date:  2008       Impact factor: 2.202

6.  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

7.  Exome sequencing supports a de novo mutational paradigm for schizophrenia.

Authors:  Bin Xu; J Louw Roos; Phillip Dexheimer; Braden Boone; Brooks Plummer; Shawn Levy; Joseph A Gogos; Maria Karayiorgou
Journal:  Nat Genet       Date:  2011-08-07       Impact factor: 38.330

8.  KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Authors:  Christelle Golzio; Jason Willer; Michael E Talkowski; Edwin C Oh; Yu Taniguchi; Sébastien Jacquemont; Alexandre Reymond; Mei Sun; Akira Sawa; James F Gusella; Atsushi Kamiya; Jacques S Beckmann; Nicholas Katsanis
Journal:  Nature       Date:  2012-05-16       Impact factor: 49.962

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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  42 in total

1.  Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

Authors:  ChangHui Pak; Tamas Danko; Yingsha Zhang; Jason Aoto; Garret Anderson; Stephan Maxeiner; Fei Yi; Marius Wernig; Thomas C Südhof
Journal:  Cell Stem Cell       Date:  2015-08-13       Impact factor: 24.633

2.  A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia.

Authors:  Wen Li; Chun Chieh Fan; Tuomo Mäki-Marttunen; Wesley K Thompson; Andrew J Schork; Francesco Bettella; Srdjan Djurovic; Anders M Dale; Ole A Andreassen; Yunpeng Wang
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2018-04-28       Impact factor: 3.568

3.  Genomics of schizophrenia: time to consider the gut microbiome?

Authors:  T G Dinan; Y E Borre; J F Cryan
Journal:  Mol Psychiatry       Date:  2014-10-07       Impact factor: 15.992

Review 4.  Neurodevelopment, GABA system dysfunction, and schizophrenia.

Authors:  Martin J Schmidt; Karoly Mirnics
Journal:  Neuropsychopharmacology       Date:  2014-04-24       Impact factor: 7.853

5.  Evolutionary behavioral genetics.

Authors:  Brendan P Zietsch; Teresa R de Candia; Matthew C Keller
Journal:  Curr Opin Behav Sci       Date:  2015-04

6.  Shared Immune and Repair Markers During Experimental Toxoplasma Chronic Brain Infection and Schizophrenia.

Authors:  Jakub Tomasik; Tracey L Schultz; Wolfgang Kluge; Robert H Yolken; Sabine Bahn; Vern B Carruthers
Journal:  Schizophr Bull       Date:  2015-09-20       Impact factor: 9.306

Review 7.  Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.

Authors:  Daniel W Meechan; Thomas M Maynard; Eric S Tucker; Alejandra Fernandez; Beverly A Karpinski; Lawrence A Rothblat; Anthony-S LaMantia
Journal:  Prog Neurobiol       Date:  2015-04-09       Impact factor: 11.685

Review 8.  Translating the MAM model of psychosis to humans.

Authors:  Gemma Modinos; Paul Allen; Anthony A Grace; Philip McGuire
Journal:  Trends Neurosci       Date:  2014-12-30       Impact factor: 13.837

9.  Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.

Authors:  J Eric Schmitt; Simon Vandekar; James Yi; Monica E Calkins; Kosha Ruparel; David R Roalf; Daneen Whinna; Margaret C Souders; Theodore D Satterwaite; Karthik Prabhakaran; Donna M McDonald-McGinn; Elaine H Zackai; Ruben C Gur; Beverly S Emanuel; Raquel E Gur
Journal:  Biol Psychiatry       Date:  2014-11-21       Impact factor: 13.382

10.  Integrated Post-GWAS Analysis Sheds New Light on the Disease Mechanisms of Schizophrenia.

Authors:  Jhih-Rong Lin; Ying Cai; Quanwei Zhang; Wen Zhang; Rubén Nogales-Cadenas; Zhengdong D Zhang
Journal:  Genetics       Date:  2016-10-17       Impact factor: 4.562

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