@article{3172528,
    title = "Contribution of copy number variants to schizophrenia from a genome-wide
study of 41,321 subjects",
    author = "Marshall, Christian R. and Howrigan, Daniel P. and Merico, Daniele and and Thiruvahindrapuram, Bhooma and Wu, Wenting and Greer, Douglas S. and and Antaki, Danny and Shetty, Aniket and Holmans, Peter A. and Pinto, Dalila and and Gujral, Madhusudan and Brandler, William M. and Malhotra, Dheeraj and and Wang, Zhouzhi and Fajarado, Karin V. Fuentes and Maile, Michelle S. and and Ripke, Stephan and Agartz, Ingrid and Albus, Margot and Alexander, and Madeline and Amin, Farooq and Atkins, Joshua and Bacanu, Silviu A. and and Belliveau, Jr., Richard A. and Bergen, Sarah E. and Ertalan, Marcelo and and Bevilacqua, Elizabeth and Bigdeli, Tim B. and Black, Donald W. and and Bruggeman, Richard and Buccola, Nancy G. and Buckner, Randy L. and and Bulik-Sullivan, Brendan and Byerley, William and Cahn, Wiepke and Cai, and Guiqing and Cairns, Murray J. and Campion, Dominique and Cantor, Rita M. and and Carr, Vaughan J. and Carrera, Noa and Catts, Stanley V. and and Chambert, Kimberley D. and Cheng, Wei and Cloninger, C. Robert and and Cohen, David and Cormican, Paul and Craddock, Nick and Crespo-Facorro, and Benedicto and Crowley, James J. and Curtis, David and Davidson, Michael and and Davis, Kenneth L. and Degenhardt, Franziska and Del Favero, Jurgen and and DeLisi, Lynn E. and Dikeos, Dimitris and Dinan, Timothy and and Djurovic, Srdjan and Donohoe, Gary and Drapeau, Elodie and Duan, Jubao and and Dudbridge, Frank and Eichhammer, Peter and Eriksson, Johan and and Escott-Price, Valentina and Essioux, Laurent and Fanous, Ayman H. and and Farh, Kai-How and Farrell, Martilias S. and Frank, Josef and Franke, and Lude and Freedman, Robert and Freimer, Nelson B. and Friedman, Joseph I. and and Forstner, Andreas J. and Fromer, Menachem and Genovese, Giulio and and Georgieva, Lyudmila and Gershon, Elliot S. and Giegling, Ina and and Giusti-Rodriguez, Paola and Godard, Stephanie and Goldstein, Jacqueline and I. and Gratten, Jacob and de Haan, Lieuwe and Hamshere, Marian L. and and Hansen, Mark and Hansen, Thomas and Haroutunian, Vahram and Hartmann, and Annette M. and Henskens, Frans A. and Herms, Stefan and Hirschhorn, Joel and N. and Hoffinann, Per and Hofman, Andrea and Huang, Hailiang and Ikeda, and Masashi and Joa, Inge and Kahler, Anna K. and Kahn, Rene S. and and Kalaydjieva, Luba and Karjalainen, Juha and Kavanagh, David and Keller, and Matthew C. and Kelly, Brian J. and Kennedy, James L. and Kim, Yunjung and and Knowles, James A. and Konte, Bettina and Laurent, Claudine and Lee, and Phil and Lee, S. Hong and Legge, Sophie E. and Lerer, Bernard and Levy, and Deborah L. and Liang, Kung-Yee and Lieberman, Jeffrey and Lonnqvist, and Jouko and Loughland, Carmel M. and Magnusson, Patrik K. E. and Maher, and Brion S. and Maier, Wolfgang and Mallet, Jacques and Mattheisen, Manuel and and Mattingsdal, Morten and McCarley, Robert W. and McDonald, Colm and and McIntosh, Andrew M. and Meier, Sandra and Meijer, Carin J. and Melle, and Ingrid and Mesholam-Gately, Raquelle I. and Metspalu, Andres and Michie, and Patricia T. and Milani, Lili and Milanova, Vihra and Mokrab, Younes and and Morris, Derek W. and Muller-Myhsok, Bertram and Murphy, Kieran C. and and Murray, Robin M. and Myin-Germeys, Inez and Nenadic, Igor and Nertney, and Deborah A. and Nestadt, Gerald and Nicodemus, Kristin K. and Nisenbaum, and Laura and Nordin, Annelie and O'Callaghan, Eadbhard and O'Dushlaine, and Colm and Oh, Sang-Yun and Olincy, Ann and Olsen, Line and O'Neill, F. and Anthony and Van Os, Jim and Pantelis, Christos and Papadimitriou, George and N. and Parkhomenko, Elena and Pato, Michele T. and Paunio, Tiina and and Perkins, Diana O. and Pers, Tune H. and Pietilainen, Olli and Pimm, and Jonathan and Pocklington, Andrew J. and Powell, John and Price, Alkes and and Pulver, Ann E. and Purcell, Shaun M. and Quested, Digby and and Rasmussen, Henrik B. and Reichenberg, Abraham and Reimers, Mark A. and and Richards, Alexander L. and Roffman, Joshua L. and Roussos, Panos and and Ruderfer, Douglas M. and Salomaa, Veikko and Sanders, Alan R. and and Savitz, Adam and Schall, Ulrich and Schulze, Thomas G. and Schwab, and Sibylle G. and Scolnick, Edward M. and Scott, Rodney J. and Seidman, and Larry J. and Shi, Jianxin and Silverman, Jeremy M. and Smoller, Jordan and W. and Soderman, Erik and Spencer, Chris C. A. and Stahl, Eli A. and and Strengman, Eric and Strohmaier, Jana and Stroup, T. Scott and Suvisaari, and Jaana and Svrakic, Dragan M. and Szatkiewicz, Jin P. and Thirumalai, and Srinivas and Tooney, Paul A. and Veijola, Juha and Visscher, Peter M. and and Waddington, John and Walsh, Dermot and Webb, Bradley T. and Weiser, and Mark and Wildenauer, Dieter B. and Williams, Nigel M. and Williams, and Stephanie and Witt, Stephanie H. and Wolen, Aaron R. and Wormley, and Brandon K. and Wray, Naomi R. and Wu, Jing Qin and Zai, Clement C. and and Adolfsson, Rolf and Andreassen, Ole A. and Blackwood, Douglas H. R. and and Bramon, Elvira and Buxbaum, Joseph D. and Cichon, Sven and Collier, and David A. and Corvin, Aiden and Daly, Mark J. and Darvasi, Ariel and and Domenici, Enrico and Esko, Tonu and Gejman, Pablo V. and Gill, Michael and and Gurling, Hugh and Hultman, Christina M. and Iwata, Nakao and and Jablensky, Assen V. and Jonsson, Erik G. and Kendler, Kenneth S. and and Kirov, George and Knight, Jo and Levinson, Douglas F. and Li, Qingqin S. and and McCarroll, Steven A. and McQuillin, Andrew and Moran, Jennifer L. and and Mowry, Bryan J. and Nothen, Markus M. and Ophoff, Roel A. and Owen, and Michael J. and Palotie, Aarno and Pato, Carlos N. and Petryshen, Tracey and L. and Posthuma, Danielle and Rietschel, Marcella and Riley, Brien P. and and Rujescu, Dan and Sklar, Pamela and St Clair, David and Walters, and James T. R. and Werge, Thomas and Siillivan, Patrick F. and O'Donovan, and Michael C. and Scherer, Stephen W. and Neale, Benjamin M. and Sebat, and Jonathan and CNV and Schizophrenia Working Grp and Psychosis and Endophenotypes",
    journal = "Nature Genetics",
    year = "2017",
    volume = "49",
    number = "1",
    pages = "27-35",
    publisher = "Lithuanian Nature Research Centre",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/ng.3725",
    abstract = "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 (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."
}