Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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dc.contributor.authorMarshall, Christian R.
dc.contributor.authorHowrigan, Daniel P.
dc.contributor.authorMerico, Daniele
dc.contributor.authorThiruvahindrapuram, Bhooma
dc.contributor.authorWu, Wenting
dc.contributor.authorGreer, Douglas S.
dc.contributor.authorAntaki, Danny
dc.contributor.authorShetty, Aniket
dc.contributor.authorHolmans, Peter A.
dc.contributor.authorPinto, Dalila
dc.contributor.authorGujral, Madhusudan
dc.contributor.authorBrandler, William M.
dc.contributor.authorMalhotra, Dheeraj
dc.contributor.authorWang, Zhouzhi
dc.contributor.authorFajarado, Karin V. Fuentes
dc.contributor.authorMaile, Michelle S.
dc.contributor.authorRipke, Stephan
dc.contributor.authorAgartz, Ingrid
dc.contributor.authorAlbus, Margot
dc.contributor.authorAlexander, Madeline
dc.contributor.authorAmin, Farooq
dc.contributor.authorAtkins, Joshua
dc.contributor.authorBacanu, Silviu A.
dc.contributor.authorBelliveau, Richard A., Jr.
dc.contributor.authorBergen, Sarah E.
dc.contributor.authorErtalan, Marcelo
dc.contributor.authorBevilacqua, Elizabeth
dc.contributor.authorBigdeli, Tim B.
dc.contributor.authorBlack, Donald W.
dc.contributor.authorBruggeman, Richard
dc.contributor.authorBuccola, Nancy G.
dc.contributor.authorBuckner, Randy L.
dc.contributor.authorBulik-Sullivan, Brendan
dc.contributor.authorByerley, William
dc.contributor.authorCahn, Wiepke
dc.contributor.authorCai, Guiqing
dc.contributor.authorCairns, Murray J.
dc.contributor.authorCampion, Dominique
dc.contributor.authorCantor, Rita M.
dc.contributor.authorCarr, Vaughan J.
dc.contributor.authorCarrera, Noa
dc.contributor.authorCatts, Stanley V.
dc.contributor.authorChambert, Kimberley D.
dc.contributor.authorCheng, Wei
dc.contributor.authorCloninger, C. Robert
dc.contributor.authorCohen, David
dc.contributor.authorCormican, Paul
dc.contributor.authorCraddock, Nick
dc.contributor.authorCrespo-Facorro, Benedicto
dc.contributor.authorCrowley, James J.
dc.contributor.authorCurtis, David
dc.contributor.authorDavidson, Michael
dc.contributor.authorDavis, Kenneth L.
dc.contributor.authorDegenhardt, Franziska
dc.contributor.authorDel Favero, Jurgen
dc.contributor.authorDeLisi, Lynn E.
dc.contributor.authorDikeos, Dimitris
dc.contributor.authorDinan, Timothy G.
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorDonohoe, Gary
dc.contributor.authorDrapeau, Elodie
dc.contributor.authorDuan, Jubao
dc.contributor.authorDudbridge, Frank
dc.contributor.authorEichhammer, Peter
dc.contributor.authorEriksson, Johan
dc.contributor.authorEscott-Price, Valentina
dc.contributor.authorEssioux, Laurent
dc.contributor.authorFanous, Ayman H.
dc.contributor.authorFarh, Kai-How
dc.contributor.authorFarrell, Martilias S.
dc.contributor.authorFrank, Josef
dc.contributor.authorFranke, Lude
dc.contributor.authorFreedman, Robert
dc.contributor.authorFreimer, Nelson B.
dc.contributor.authorFriedman, Joseph I.
dc.contributor.authorForstner, Andreas J.
dc.contributor.authorFromer, Menachem
dc.contributor.authorGenovese, Giulio
dc.contributor.authorGeorgieva, Lyudmila
dc.contributor.authorGershon, Elliot S.
dc.contributor.authorGiegling, Ina
dc.contributor.authorGiusti-Rodriguez, Paola
dc.contributor.authorGodard, Stephanie
dc.contributor.authorGoldstein, Jacqueline I.
dc.contributor.authorGratten, Jacob
dc.contributor.authorde Haan, Lieuwe
dc.contributor.authorHamshere, Marian L.
dc.contributor.authorHansen, Mark
dc.contributor.authorHansen, Thomas
dc.contributor.authorHaroutunian, Vahram
dc.contributor.authorHartmann, Annette M.
dc.contributor.authorHenskens, Frans A.
dc.contributor.authorHerms, Stefan
dc.contributor.authorHirschhorn, Joel N.
dc.contributor.authorHoffinann, Per
dc.contributor.authorHofman, Andrea
dc.contributor.authorHuang, Hailiang
dc.contributor.authorIkeda, Masashi
dc.contributor.authorJoa, Inge
dc.contributor.authorKahler, Anna K.
dc.contributor.authorKahn, Rene S.
dc.contributor.authorKalaydjieva, Luba
dc.contributor.authorKarjalainen, Juha
dc.contributor.authorKavanagh, David
dc.contributor.authorKeller, Matthew C.
dc.contributor.authorKelly, Brian J.
dc.contributor.authorKennedy, James L.
dc.contributor.authorKim, Yunjung
dc.contributor.authorKnowles, James A.
dc.contributor.authorKonte, Bettina
dc.contributor.authorLaurent, Claudine
dc.contributor.authorLee, Phil
dc.contributor.authorLee, S. Hong
dc.contributor.authorLegge, Sophie E.
dc.contributor.authorLerer, Bernard
dc.contributor.authorLevy, Deborah L.
dc.contributor.authorLiang, Kung-Yee
dc.contributor.authorLieberman, Jeffrey
dc.contributor.authorLonnqvist, Jouko
dc.contributor.authorLoughland, Carmel M.
dc.contributor.authorMagnusson, Patrik K. E.
dc.contributor.authorMaher, Brion S.
dc.contributor.authorMaier, Wolfgang
dc.contributor.authorMallet, Jacques
dc.contributor.authorMattheisen, Manuel
dc.contributor.authorMattingsdal, Morten
dc.contributor.authorMcCarley, Robert W.
dc.contributor.authorMcDonald, Colm
dc.contributor.authorMcIntosh, Andrew M.
dc.contributor.authorMeier, Sandra
dc.contributor.authorMeijer, Carin J.
dc.contributor.authorMelle, Ingrid
dc.contributor.authorMesholam-Gately, Raquelle I.
dc.contributor.authorMetspalu, Andres
dc.contributor.authorMichie, Patricia T.
dc.contributor.authorMilani, Lili
dc.contributor.authorMilanova, Vihra
dc.contributor.authorMokrab, Younes
dc.contributor.authorMorris, Derek W.
dc.contributor.authorMuller-Myhsok, Bertram
dc.contributor.authorMurphy, Kieran C.
dc.contributor.authorMurray, Robin M.
dc.contributor.authorMyin-Germeys, Inez
dc.contributor.authorNenadic, Igor
dc.contributor.authorNertney, Deborah A.
dc.contributor.authorNestadt, Gerald
dc.contributor.authorNicodemus, Kristin K.
dc.contributor.authorNisenbaum, Laura
dc.contributor.authorNordin, Annelie
dc.contributor.authorO'Callaghan, Eadbhard
dc.contributor.authorO'Dushlaine, Colm
dc.contributor.authorOh, Sang-Yun
dc.contributor.authorOlincy, Ann
dc.contributor.authorOlsen, Line
dc.contributor.authorO'Neill, F. Anthony
dc.contributor.authorVan Os, Jim
dc.contributor.authorPantelis, Christos
dc.contributor.authorPapadimitriou, George N.
dc.contributor.authorParkhomenko, Elena
dc.contributor.authorPato, Michele T.
dc.contributor.authorPaunio, Tiina
dc.contributor.authorPerkins, Diana O.
dc.contributor.authorPers, Tune H.
dc.contributor.authorPietilainen, Olli
dc.contributor.authorPimm, Jonathan
dc.contributor.authorPocklington, Andrew J.
dc.contributor.authorPowell, John
dc.contributor.authorPrice, Alkes
dc.contributor.authorPulver, Ann E.
dc.contributor.authorPurcell, Shaun M.
dc.contributor.authorQuested, Digby
dc.contributor.authorRasmussen, Henrik B.
dc.contributor.authorReichenberg, Abraham
dc.contributor.authorReimers, Mark A.
dc.contributor.authorRichards, Alexander L.
dc.contributor.authorRoffman, Joshua L.
dc.contributor.authorRoussos, Panos
dc.contributor.authorRuderfer, Douglas M.
dc.contributor.authorSalomaa, Veikko
dc.contributor.authorSanders, Alan R.
dc.contributor.authorSavitz, Adam
dc.contributor.authorSchall, Ulrich
dc.contributor.authorSchulze, Thomas G.
dc.contributor.authorSchwab, Sibylle G.
dc.contributor.authorScolnick, Edward M.
dc.contributor.authorScott, Rodney J.
dc.contributor.authorSeidman, Larry J.
dc.contributor.authorShi, Jianxin
dc.contributor.authorSilverman, Jeremy M.
dc.contributor.authorSmoller, Jordan W.
dc.contributor.authorSoderman, Erik
dc.contributor.authorSpencer, Chris C. A.
dc.contributor.authorStahl, Eli A.
dc.contributor.authorStrengman, Eric
dc.contributor.authorStrohmaier, Jana
dc.contributor.authorStroup, T. Scott
dc.contributor.authorSuvisaari, Jaana
dc.contributor.authorSvrakic, Dragan M.
dc.contributor.authorSzatkiewicz, Jin P.
dc.contributor.authorThirumalai, Srinivas
dc.contributor.authorTooney, Paul A.
dc.contributor.authorVeijola, Juha
dc.contributor.authorVisscher, Peter M.
dc.contributor.authorWaddington, John
dc.contributor.authorWalsh, Dermot
dc.contributor.authorWebb, Bradley T.
dc.contributor.authorWeiser, Mark
dc.contributor.authorWildenauer, Dieter B.
dc.contributor.authorWilliams, Nigel M.
dc.contributor.authorWilliams, Stephanie
dc.contributor.authorWitt, Stephanie H.
dc.contributor.authorWolen, Aaron R.
dc.contributor.authorWormley, Brandon K.
dc.contributor.authorWray, Naomi R.
dc.contributor.authorWu, Jing Qin
dc.contributor.authorZai, Clement C.
dc.contributor.authorAdolfsson, Rolf
dc.contributor.authorAndreassen, Ole A.
dc.contributor.authorBlackwood, Douglas H. R.
dc.contributor.authorBramon, Elvira
dc.contributor.authorBuxbaum, Joseph D.
dc.contributor.authorCichon, Sven
dc.contributor.authorCollier, David A.
dc.contributor.authorCorvin, Aiden
dc.contributor.authorDaly, Mark J.
dc.contributor.authorDarvasi, Ariel
dc.contributor.authorDomenici, Enrico
dc.contributor.authorEsko, Tonu
dc.contributor.authorGejman, Pablo V.
dc.contributor.authorGill, Michael
dc.contributor.authorGurling, Hugh
dc.contributor.authorHultman, Christina M.
dc.contributor.authorIwata, Nakao
dc.contributor.authorJablensky, Assen V.
dc.contributor.authorJonsson, Erik G.
dc.contributor.authorKendler, Kenneth S.
dc.contributor.authorKirov, George
dc.contributor.authorKnight, Jo
dc.contributor.authorLevinson, Douglas F.
dc.contributor.authorLi, Qingqin S.
dc.contributor.authorMcCarroll, Steven A.
dc.contributor.authorMcQuillin, Andrew
dc.contributor.authorMoran, Jennifer L.
dc.contributor.authorMowry, Bryan J.
dc.contributor.authorNothen, Markus M.
dc.contributor.authorOphoff, Roel A.
dc.contributor.authorOwen, Michael J.
dc.contributor.authorPalotie, Aarno
dc.contributor.authorPato, Carlos N.
dc.contributor.authorPetryshen, Tracey L.
dc.contributor.authorPosthuma, Danielle
dc.contributor.authorRietschel, Marcella
dc.contributor.authorRiley, Brien P.
dc.contributor.authorRujescu, Dan
dc.contributor.authorSklar, Pamela
dc.contributor.authorSt Clair, David
dc.contributor.authorWalters, James T. R.
dc.contributor.authorWerge, Thomas
dc.contributor.authorSiillivan, Patrick F.
dc.contributor.authorO'Donovan, Michael C.
dc.contributor.authorScherer, Stephen W.
dc.contributor.authorNeale, Benjamin M.
dc.contributor.authorSebat, Jonathan
dc.date.accessioned2018-07-30T10:30:29Z
dc.date.available2018-07-30T10:30:29Z
dc.date.issued2017
dc.description.abstractCopy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.en
dc.description.sponsorshipUS National Institute of Mental Health (NIMH) (U01 MH094421)en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationMarshall, C. R., et al. (2016) 'Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects', Nature Genetics, 49, pp. pages 27–35. doi: 10.1038/ng.3725en
dc.identifier.doi10.1038/ng.3725
dc.identifier.endpage35
dc.identifier.issn1061-4036
dc.identifier.issued1
dc.identifier.journaltitleNature Geneticsen
dc.identifier.startpage27
dc.identifier.urihttps://hdl.handle.net/10468/6517
dc.identifier.volume49
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.urihttps://www.nature.com/articles/ng.3725
dc.rights© 2017, Nature America, Inc., part of Springer Nature. All rights reserved. This is the peer reviewed version of the following article: Marshall, C. R., et al. (2016) 'Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects', Nature Genetics, 49, pp. pages 27–35. doi: 10.1038/ng.3725, which has been published in final form at https://doi.org/10.1038/ng.3725en
dc.subjectGeneen
dc.subject16p11.2en
dc.subjectAutismen
dc.subjectRisken
dc.subjectCNVen
dc.subjectRearrangementen
dc.subjectDuplicationen
dc.subjectPhenotypeen
dc.subjectDisorderen
dc.subjectMutationen
dc.subjectCopy number varianten
dc.titleContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjectsen
dc.typeArticle (peer-reviewed)en
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