A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium
bioRxiv (Cold Spring Harbor Laboratory)2016
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Christian R. Marshall, Daniel P. Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S. Greer, Danny Antaki, Aniket Shetty, Peter Holmans, Dalila Pinto, Madhusudan Gujral, William M. Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V. Fuentes Fajarado, Stephan Ripke, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu‐Alin Bacanu, Richard A. Belliveau, Sarah E. Bergen, Marcelo Bertalan, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, Brendan Bulik‐Sullivan, William Byerley, Wiepke Cahn, Guiqing Cai, Murray J. Cairns, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberley D. Chambert, Wei Cheng, C. Robert Cloninger, David Cohen, Paul Cormican, Nick Craddock, Benedicto Crespo‐Facorro, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del‐Favero, Lynn E. DeLisi, Ditte Demontis, Dimitris Dikeos, Timothy G. Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Peter Eichhammer, Johan G. Eriksson, Valentina Escott‐Price, Laurent Essioux, Ayman H. Fanous, Kai-How Farh, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Joseph I. Friedman, Andreas J. Forstner, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S. Gershon, Ina Giegling, Paola Giusti‐Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Jacob Gratten, Lieuwe de Haan, Marian L. Hamshere, Thomas Folkmann Hansen, Thomas Folkmann Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Hailiang Huang, Masashi Ikeda, Inge Joa, K Kähler Anna, René S. Kahn, Luba Kalaydjieva, Juha Karjalainen, David Kavanagh, Matthew C. Keller, Brian Kelly, James L. Kennedy, Yunjung Kim, James A. Knowles, Bettina Konte, Claudine Laurent, Phil Hyu Lee, Sang Lee, Sophie E. Legge, Bernard Lerer, Deborah L. Levy, Kung‐Yee Liang, Jeffrey A. Lieberman, Jouko Lönnqvist, Carmel M. Loughland, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Ingrid Melle, Raquelle I. Mesholam‐Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Mariofanna Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Bertram Müller-Myhsok, Kieran C. Murphy, Robin Murray, Inez Myin‐Germeys, Igor Nenadić, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Laura Nisenbaum, Annelie Nordin, Eadbhard O’ Callaghan, Colm O’ Dushlaine, Sang-Yun Oh, Ann Olincy, Line Olsen, F. Anthony O’ Neill, Jim van Os, Christos Pantelis, George N. Papadimitriou, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Diana O. Perkins, Tune H. Pers, Olli Pietiläinen, Jonathan Pimm, Andrew Pocklington, John Powell, Alkes L. Price, Ann E. Pulver, Shaun Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Adam Savitz, Ulrich Schall, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Jeremy M. Silverman, Jordan W. Smoller, Erik Söderman, Chris C.A. Spencer, Eli A. Stahl, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Jaana Suvisaari, Dragan M. Švrakić, Jin P. Szatkiewicz, Srinivas Thirumalai, Paul A. Tooney, Juha Veijola, Peter M. Visscher, John L. Waddington, Dermot Walsh, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Brandon K. Wormley, Naomi R. Wray, Jing Wu, Clement C. Zai, Rolf Adolfsson, Ole A. Andreassen, Douglas Blackwood, Anders D. Børglum, Elvira Bramon, Joseph D. Buxbaum, Sven Cichon, David Collier, Aiden Corvin, Mark J. Daly, Ariel Darvasi, Enrico Domenici, Tōnu Esko, Pablo V. Gejman, Michael Gill, Hugh Gurling, Christina M. Hultman, Nakao Iwata, Assen Jablensky, Erik G. Jönsson, Kenneth S. Kendler, George Kirov, Jo Knight, Douglas F. Levinson, Qingqin S. Li, Steven A. McCarroll, Andrew McQuillin, Jennifer L. Moran, Preben Bo Mortensen, Bryan Mowry, Markus M. Nöthen, Roel A. Ophoff, Michael J. Owen, Aarno Palotie, Carlos N. Pato, Tracey L. Petryshen, Daniëlle Posthuma, Marcella Rietschel, Brien P. Riley, Dan Rujescu, Pamela Sklar, David St Clair, James Walters, Thomas Werge, Patrick F. Sullivan, Michael O’Donovan, Stephen W. Scherer, Benjamin M. Neale, Jonathan Sebat
Abstract
Abstract Genomic copy number variants (CNVs) have been strongly implicated in the etiology of schizophrenia (SCZ). However, apart from a small number of risk variants, elucidation of the CNV contribution to risk has been difficult due to the rarity of risk alleles, all occurring in less than 1% of cases. We sought to address this obstacle through a collaborative effort in which we applied a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. We observed a global enrichment of CNV burden in cases (OR=1.11, P=5.7e −15 ), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7e −6 ). CNV burden is also enriched for genes associated with synaptic function (OR = 1.68, P = 2.8e −11 ) and neurobehavioral phenotypes in mouse (OR = 1.18, P=7.3e −5 ). We identified genome-wide significant support for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. We find support at a suggestive level for nine additional candidate susceptibility and protective loci, which consist predominantly of CNVs mediated by non-allelic homologous recombination (NAHR).
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