Literature DB >> 23164818

Common variant at 16p11.2 conferring risk of psychosis.

S Steinberg1, S de Jong2, M Mattheisen3, J Costas4, D Demontis5, S Jamain6, O P H Pietiläinen7, K Lin8, S Papiol9, J Huttenlocher10, E Sigurdsson11, E Vassos12, I Giegling13, R Breuer14, G Fraser15, N Walker16, I Melle17, S Djurovic17, I Agartz17, A Tuulio-Henriksson18, J Suvisaari18, J Lönnqvist18, T Paunio19, L Olsen20, T Hansen20, A Ingason20, M Pirinen21, E Strengman22, D M Hougaard23, T Orntoft24, M Didriksen25, M V Hollegaard23, M Nordentoft26, L Abramova27, V Kaleda27, M Arrojo28, J Sanjuán29, C Arango30, B Etain31, F Bellivier32, A Méary31, F Schürhoff32, A Szoke31, M Ribolsi33, V Magni33, A Siracusano33, S Sperling34, M Rossner35, C Christiansen36, L A Kiemeney37, B Franke38, L H van den Berg39, J Veldink39, S Curran40, P Bolton40, M Poot22, W Staal41, K Rehnstrom42, H Kilpinen42, C M Freitag43, J Meyer44, P Magnusson45, E Saemundsen46, I Martsenkovsky47, I Bikshaieva47, I Martsenkovska47, O Vashchenko47, M Raleva48, K Paketchieva48, B Stefanovski48, N Durmishi48, M Pejovic Milovancevic49, D Lecic Tosevski49, T Silagadze50, N Naneishvili50, N Mikeladze50, S Surguladze51, J B Vincent52, A Farmer12, P B Mitchell53, A Wright53, P R Schofield54, J M Fullerton54, G W Montgomery55, N G Martin55, I A Rubino33, R van Winkel56, G Kenis57, M De Hert58, J M Réthelyi59, I Bitter59, L Terenius60, E G Jönsson60, S Bakker61, J van Os62, A Jablensky63, M Leboyer32, E Bramon64, J Powell8, R Murray65, A Corvin66, M Gill66, D Morris66, F A O'Neill67, K Kendler68, B Riley68, N Craddock69, M J Owen69, M C O'Donovan69, U Thorsteinsdottir70, A Kong1, H Ehrenreich9, A Carracedo71, V Golimbet27, O A Andreassen17, A D Børglum72, O Mors73, P B Mortensen74, T Werge75, R A Ophoff76, M M Nöthen77, M Rietschel14, S Cichon78, M Ruggeri79, S Tosato79, A Palotie80, D St Clair15, D Rujescu81, D A Collier82, H Stefansson1, K Stefansson70.   

Abstract

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio=1.08; P=6.6 × 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders).

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Mesh:

Year:  2012        PMID: 23164818      PMCID: PMC3872086          DOI: 10.1038/mp.2012.157

Source DB:  PubMed          Journal:  Mol Psychiatry        ISSN: 1359-4184            Impact factor:   15.992


  48 in total

1.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

2.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

3.  Temporal dynamics and genetic control of transcription in the human prefrontal cortex.

Authors:  Carlo Colantuoni; Barbara K Lipska; Tianzhang Ye; Thomas M Hyde; Ran Tao; Jeffrey T Leek; Elizabeth A Colantuoni; Abdel G Elkahloun; Mary M Herman; Daniel R Weinberger; Joel E Kleinman
Journal:  Nature       Date:  2011-10-26       Impact factor: 49.962

4.  Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.

Authors:  S E Bergen; C T O'Dushlaine; S Ripke; P H Lee; D M Ruderfer; S Akterin; J L Moran; K D Chambert; R E Handsaker; L Backlund; U Ösby; S McCarroll; M Landen; E M Scolnick; P K E Magnusson; P Lichtenstein; C M Hultman; S M Purcell; P Sklar; P F Sullivan
Journal:  Mol Psychiatry       Date:  2012-06-12       Impact factor: 15.992

5.  Multiple common variants for celiac disease influencing immune gene expression.

Authors:  Patrick C A Dubois; Gosia Trynka; Lude Franke; Karen A Hunt; Jihane Romanos; Alessandra Curtotti; Alexandra Zhernakova; Graham A R Heap; Róza Adány; Arpo Aromaa; Maria Teresa Bardella; Leonard H van den Berg; Nicholas A Bockett; Emilio G de la Concha; Bárbara Dema; Rudolf S N Fehrmann; Miguel Fernández-Arquero; Szilvia Fiatal; Elvira Grandone; Peter M Green; Harry J M Groen; Rhian Gwilliam; Roderick H J Houwen; Sarah E Hunt; Katri Kaukinen; Dermot Kelleher; Ilma Korponay-Szabo; Kalle Kurppa; Padraic MacMathuna; Markku Mäki; Maria Cristina Mazzilli; Owen T McCann; M Luisa Mearin; Charles A Mein; Muddassar M Mirza; Vanisha Mistry; Barbara Mora; Katherine I Morley; Chris J Mulder; Joseph A Murray; Concepción Núñez; Elvira Oosterom; Roel A Ophoff; Isabel Polanco; Leena Peltonen; Mathieu Platteel; Anna Rybak; Veikko Salomaa; Joachim J Schweizer; Maria Pia Sperandeo; Greetje J Tack; Graham Turner; Jan H Veldink; Wieke H M Verbeek; Rinse K Weersma; Victorien M Wolters; Elena Urcelay; Bozena Cukrowska; Luigi Greco; Susan L Neuhausen; Ross McManus; Donatella Barisani; Panos Deloukas; Jeffrey C Barrett; Paivi Saavalainen; Cisca Wijmenga; David A van Heel
Journal:  Nat Genet       Date:  2010-02-28       Impact factor: 38.330

6.  Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.

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

7.  Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.

Authors:  Douglas F Levinson; Jubao Duan; Sang Oh; Kai Wang; Alan R Sanders; Jianxin Shi; Nancy Zhang; Bryan J Mowry; Ann Olincy; Farooq Amin; C Robert Cloninger; Jeremy M Silverman; Nancy G Buccola; William F Byerley; Donald W Black; Kenneth S Kendler; Robert Freedman; Frank Dudbridge; Itsik Pe'er; Hakon Hakonarson; Sarah E Bergen; Ayman H Fanous; Peter A Holmans; Pablo V Gejman
Journal:  Am J Psychiatry       Date:  2011-02-01       Impact factor: 18.112

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.  Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1.

Authors:  Francis J McMahon; Nirmala Akula; Thomas G Schulze; Pierandrea Muglia; Federica Tozzi; Sevilla D Detera-Wadleigh; C J M Steele; René Breuer; Jana Strohmaier; Jens R Wendland; Manuel Mattheisen; Thomas W Mühleisen; Wolfgang Maier; Markus M Nöthen; Sven Cichon; Anne Farmer; John B Vincent; Florian Holsboer; Martin Preisig; Marcella Rietschel
Journal:  Nat Genet       Date:  2010-01-17       Impact factor: 38.330

10.  Disruption of the neurexin 1 gene is associated with schizophrenia.

Authors:  Dan Rujescu; Andres Ingason; Sven Cichon; Olli P H Pietiläinen; Michael R Barnes; Timothea Toulopoulou; Marco Picchioni; Evangelos Vassos; Ulrich Ettinger; Elvira Bramon; Robin Murray; Mirella Ruggeri; Sarah Tosato; Chiara Bonetto; Stacy Steinberg; Engilbert Sigurdsson; Thordur Sigmundsson; Hannes Petursson; Arnaldur Gylfason; Pall I Olason; Gudmundur Hardarsson; Gudrun A Jonsdottir; Omar Gustafsson; Ragnheidur Fossdal; Ina Giegling; Hans-Jürgen Möller; Annette M Hartmann; Per Hoffmann; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamari Tuulio-Henriksson; Srdjan Djurovic; Ingrid Melle; Ole A Andreassen; Thomas Hansen; Thomas Werge; Lambertus A Kiemeney; Barbara Franke; Joris Veltman; Jacobine E Buizer-Voskamp; Chiara Sabatti; Roel A Ophoff; Marcella Rietschel; Markus M Nöthen; Kari Stefansson; Leena Peltonen; David St Clair; Hreinn Stefansson; David A Collier
Journal:  Hum Mol Genet       Date:  2008-10-22       Impact factor: 6.150

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  36 in total

1.  16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Authors:  Mu Yang; Elena J Mahrt; Freeman Lewis; Gillian Foley; Thomas Portmann; Ricardo E Dolmetsch; Christine V Portfors; Jacqueline N Crawley
Journal:  Autism Res       Date:  2015-02-07       Impact factor: 5.216

2.  GWAS, cytomegalovirus infection, and schizophrenia.

Authors:  Jakob Grove; Anders D Børglum; Brad D Pearce
Journal:  Curr Behav Neurosci Rep       Date:  2014-12-01

3.  Kctd13 deletion reduces synaptic transmission via increased RhoA.

Authors:  Christine Ochoa Escamilla; Irina Filonova; Angela K Walker; Zhong X Xuan; Roopashri Holehonnur; Felipe Espinosa; Shunan Liu; Summer B Thyme; Isabel A López-García; Dorian B Mendoza; Noriyoshi Usui; Jacob Ellegood; Amelia J Eisch; Genevieve Konopka; Jason P Lerch; Alexander F Schier; Haley E Speed; Craig M Powell
Journal:  Nature       Date:  2017-11-01       Impact factor: 49.962

4.  KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex.

Authors:  Eric O Johnson; Dana B Hancock; Joshua L Levy; Nathan C Gaddis; Grier P Page; Cristie Glasheen; Nancy L Saccone; Laura J Bierut; Alex H Kral
Journal:  Addict Biol       Date:  2015-07-23       Impact factor: 4.280

Review 5.  [Search for risk genes in schizophrenia].

Authors:  D Rujescu
Journal:  Nervenarzt       Date:  2017-07       Impact factor: 1.214

6.  Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice.

Authors:  Julie Ouellette; Xavier Toussay; Cesar H Comin; Luciano da F Costa; Mirabelle Ho; María Lacalle-Aurioles; Moises Freitas-Andrade; Qing Yan Liu; Sonia Leclerc; Youlian Pan; Ziying Liu; Jean-François Thibodeau; Melissa Yin; Micael Carrier; Cameron J Morse; Peter Van Dyken; Christopher J Bergin; Sylvain Baillet; Christopher R Kennedy; Marie-Ève Tremblay; Yannick D Benoit; William L Stanford; Dylan Burger; Duncan J Stewart; Baptiste Lacoste
Journal:  Nat Neurosci       Date:  2020-07-13       Impact factor: 24.884

Review 7.  [Neurobiology of schizophrenia: new findings from the structure to the molecules].

Authors:  A Schmitt; B Malchow; D Keeser; P Falkai; A Hasan
Journal:  Nervenarzt       Date:  2015-03       Impact factor: 1.214

Review 8.  Candidate gene-environment interaction research: reflections and recommendations.

Authors:  Danielle M Dick; Arpana Agrawal; Matthew C Keller; Amy Adkins; Fazil Aliev; Scott Monroe; John K Hewitt; Kenneth S Kendler; Kenneth J Sher
Journal:  Perspect Psychol Sci       Date:  2015-01

Review 9.  Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

Authors:  Young Shin Kim; Matthew W State
Journal:  Int J Epidemiol       Date:  2014-03-11       Impact factor: 7.196

10.  Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.

Authors:  M Föcking; L M Lopez; J A English; P Dicker; A Wolff; E Brindley; K Wynne; G Cagney; D R Cotter
Journal:  Mol Psychiatry       Date:  2014-07-22       Impact factor: 15.992

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