Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Creators: name: Wolen, Aaron R.
name: Rujescu, Dan
name: Oh, Sang-Yun
name: Scott, Rodney J.
name: Pinto, Dalila
name: Williams, Nigel M.
name: Carrera, Noa
name: Lönnqvist, Jouko
name: O'Callaghan, Eadbhard
name: Goldstein, Jacqueline I.
name: Bramon, Elvira
name: Mokrab, Younes
name: Curtis, David
name: Hamshere, Marian L.
name: Pato, Carlos N.
name: Myin-Germeys, Inez
name: Black, Donald W.
name: Dudbridge, Frank
name: Pers, Tune H.
name: Drapeau, Elodie
name: Lee, Phil
name: Loughland, Carmel M.
name: Scherer, Stephen W.
name: Reichenberg, Abraham
name: Meijer, Carin J.
name: Maher, Brion S.
name: O'Neill, F Anthony
name: Craddock, Nick
name: Lee, S Hong
name: Müller-Myhsok, Bertram
name: Henskens, Frans A.
name: Rietschel, Marcella
name: Godard, Stephanie
name: Sklar, Pamela
name: Buxbaum, Joseph D.
name: Webb, Bradley T.
name: Buckner, Randy L.
name: Strengman, Eric
name: Murphy, Kieran C.
name: Bertalan, Marcelo
name: Chambert, Kimberley D.
name: Pietiläinen, Olli
name: Kavanagh, David
name: Bacanu, Silviu A.
name: Buccola, Nancy G.
name: Owen, Michael J.
name: Pocklington, Andrew J.
name: Crowley, James J.
name: Mallet, Jacques
name: Stroup, T Scott
name: Jönsson, Erik G.
name: Fromer, Menachem
name: Amin, Farooq
name: Cichon, Sven
name: Giegling, Ina
name: Sanders, Alan R.
name: Pimm, Jonathan
name: Essioux, Laurent
name: Nenadic, Igor
name: Legge, Sophie E.
name: Salomaa, Veikko
name: Darvasi, Ariel
name: Cheng, Wei
name: Knowles, James A.
name: Sullivan, Patrick F.
name: Wang, Zhouzhi
name: Georgieva, Lyudmila
name: McCarley, Robert W.
name: Milanova, Vihra
name: Lieberman, Jeffrey
name: Cai, Guiqing
name: Szatkiewicz, Jin P.
name: Gujral, Madhusudan
name: Palotie, Aarno
name: Nestadt, Gerald
name: Farrell, Martilias S.
name: Powell, John
name: Williams, Stephanie
name: Kirov, George
name: McCarroll, Steven A.
name: Milani, Lili
name: Nordin, Annelie
name: O'Donovan, Michael C.
name: Hultman, Christina M.
name: Malhotra, Dheeraj
name: Dikeos, Dimitris
name: O'Dushlaine, Colm
name: DeLisi, Lynn E.
name: Michie, Patricia T.
name: Pantelis, Christos
name: Neale, Benjamin M.
name: Reimers, Mark A.
name: Jablensky, Assen V.
name: Ophoff, Roel A.
name: Hirschhorn, Joel N.
name: Kim, Yunjung
name: Smoller, Jordan W.
name: Purcell, Shaun M.
name: Papadimitriou, George N.
name: Posthuma, Danielle
name: St Clair, David
name: Mattingsdal, Morten
name: Thirumalai, Srinivas
name: Ripke, Stephan
name: Nicodemus, Kristin K.
name: Esko, Tõnu
name: Parkhomenko, Elena
name: Eichhammer, Peter
name: Mesholam-Gately, Raquelle I.
name: Kahn, René S.
name: Hoffmann, Per
name: Duan, Jubao
name: Savitz, Adam
name: Visscher, Peter M.
name: Petryshen, Tracey L.
name: Kähler, Anna K.
name: Fanous, Ayman H.
name: Friedman, Joseph I.
name: Stahl, Eli A.
name: Hansen, Mark
name: Djurovic, Srdjan
name: Veijola, Juha
name: Seidman, Larry J.
name: Pulver, Ann E.
name: Pato, Michele T.
name: Maile, Michelle S.
name: Waddington, John
name: Metspalu, Andres
name: Gratten, Jacob
name: Rasmussen, Henrik B.
name: Holmans, Peter A.
name: Adolfsson, Rolf
name: Roffman, Joshua L.
name: Mowry, Bryan J.
name: Gershon, Elliot S.
name: Shetty, Aniket
name: Werge, Thomas
name: Knight, Jo
name: Donohoe, Gary
name: Fuentes Fajarado, Karin V.
name: Witt, Stephanie H.
name: Cohen, David
name: Söderman, Erik
name: Sebat, Jonathan
name: Nertney, Deborah A.
name: Bevilacqua, Elizabeth
name: Agartz, Ingrid
name: Ikeda, Masashi
name: Spencer, Chris C.A.
name: Davidson, Michael
name: Karjalainen, Juha
name: Antaki, Danny
name: Frank, Josef
name: Collier, David A.
name: Brandler, William M.
name: Catts, Stanley V.
name: Herms, Stefan
name: Silverman, Jeremy M.
name: Walters, James T.R.
name: Levinson, Douglas F.
name: Cloninger, C Robert
name: Farh, Kai-How
name: Morris, Derek W.
name: Schall, Ulrich
name: Murray, Robin M.
name: Genovese, Giulio
name: Olincy, Ann
name: Del Favero, Jurgen
name: Maier, Wolfgang
name: Laurent, Claudine
name: McDonald, Colm
name: Keller, Matthew C.
name: Escott-Price, Valentina
name: Hansen, Thomas
name: Perkins, Diana O.
name: Kendler, Kenneth S.
name: Wormley, Brandon K.
name: Strohmaier, Jana
name: Crespo-Facorro, Benedicto
name: Haroutunian, Vahram
name: Albus, Margot
name: Scolnick, Edward M.
name: Wray, Naomi R.
name: Cairns, Murray J.
name: Olsen, Line
name: McIntosh, Andrew M.
name: Hartmann, Annette M.
name: De Haan, Lieuwe
name: Eriksson, Johan
name: Marshall, Christian R.
name: Freedman, Robert
name: Andreassen, Ole A.
name: Carr, Vaughan J.
name: Kalaydjieva, Luba
name: Weiser, Mark
name: Hofman, Andrea
name: Iwata, Nakao
name: Wu, Wenting
name: Meier, Sandra
name: Bergen, Sarah E.
name: Gurling, Hugh
name: Domenici, Enrico
name: Melle, Ingrid
name: Wildenauer, Dieter B.
name: Cantor, Rita M.
name: Campion, Dominique
name: Blackwood, Douglas H.R.
name: Liang, Kung-Yee
name: Schulze, Thomas G.
name: Lerer, Bernard
name: Suvisaari, Jaana
name: Greer, Douglas S.
name: Svrakic, Dragan M.
name: Davis, Kenneth L.
name: Magnusson, Patrik K.E.
name: Howrigan, Daniel P.
name: Wu, Jing Qin
name: Belliveau, Richard A.
name: Walsh, Dermot
name: Shi, Jianxin
name: Mattheisen, Manuel
name: Bulik-Sullivan, Brendan
name: Levy, Deborah L.
name: Price, Alkes
name: Byerley, William
name: Quested, Digby
name: Moran, Jennifer L.
name: Daly, Mark J.
name: Kennedy, James L.
name: Gill, Michael
name: Tooney, Paul A.
name: Gejman, Pablo V.
name: Bigdeli, Tim B.
name: Zai, Clement C.
name: Riley, Brien P.
name: Van Os, Jim
name: Franke, Lude
name: Degenhardt, Franziska
name: Cormican, Paul
name: Li, Qingqin S.
name: Giusti-Rodríguez, Paola
name: Roussos, Panos
name: McQuillin, Andrew
name: Atkins, Joshua
name: Kelly, Brian J.
name: Paunio, Tiina
name: Konte, Bettina
name: Schwab, Sibylle G.
name: Dinan, Timothy
name: Bruggeman, Richard
name: Joa, Inge
name: Corvin, Aiden
name: Alexander, Madeline
name: Huang, Hailiang
name: Richards, Alexander L.
name: Forstner, Andreas J.
name: Freimer, Nelson B.
name: Merico, Daniele
name: Cahn, Wiepke
name: Thiruvahindrapuram, Bhooma
name: Nöthen, Markus M.
name: Ruderfer, Douglas M.
name: Nisenbaum, Laura
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2017

description: Copy 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 (OR=1.11, P=5.7×10−15), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7 ×10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 ×10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P= 7.3 ×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 non-allelic homologous recombination.