| Literature DB >> 27869829 |
Christian R Marshall1, Daniel P Howrigan2,3, Daniele Merico1, Bhooma Thiruvahindrapuram1, Wenting Wu4,5, Douglas S Greer4,5, Danny Antaki4,5, Aniket Shetty4,5, Peter A Holmans6,7, Dalila Pinto8,9, Madhusudan Gujral4,5, William M Brandler4,5, Dheeraj Malhotra4,5,10, Zhouzhi Wang1, Karin V Fuentes Fajarado4,5, Michelle S Maile4,5, Stephan Ripke2,3, Ingrid Agartz11,12,13, Margot Albus14, Madeline Alexander15, Farooq Amin16,17, Joshua Atkins18,19, Silviu A Bacanu20, Richard A Belliveau3, Sarah E Bergen3,21, Marcelo Bertalan22,23, Elizabeth Bevilacqua3, Tim B Bigdeli20, Donald W Black24, Richard Bruggeman25, Nancy G Buccola26, Randy L Buckner27,28,29, Brendan Bulik-Sullivan2,3, William Byerley30, Wiepke Cahn31, Guiqing Cai8,32, Murray J Cairns18,33,34, Dominique Campion35, Rita M Cantor36, Vaughan J Carr33,37, Noa Carrera6, Stanley V Catts33,38, Kimberley D Chambert3, Wei Cheng39, C Robert Cloninger40, David Cohen41, Paul Cormican42, Nick Craddock6,7, Benedicto Crespo-Facorro43,44, James J Crowley45, David Curtis46,47, Michael Davidson48, Kenneth L Davis8, Franziska Degenhardt49,50, Jurgen Del Favero51, Lynn E DeLisi52,53, Dimitris Dikeos54, Timothy Dinan55, Srdjan Djurovic11,56, Gary Donohoe42,57, Elodie Drapeau8, Jubao Duan58,59, Frank Dudbridge60, Peter Eichhammer61, Johan Eriksson62,63,64, Valentina Escott-Price6, Laurent Essioux65, Ayman H Fanous66,67,68,69, Kai-How Farh2, Martilias S Farrell45, Josef Frank70, Lude Franke71, Robert Freedman72, Nelson B Freimer73, Joseph I Friedman8, Andreas J Forstner49,50, Menachem Fromer2,3,74,75, Giulio Genovese3, Lyudmila Georgieva6, Elliot S Gershon59,76, Ina Giegling77,78, Paola Giusti-Rodríguez45, Stephanie Godard79, Jacqueline I Goldstein2,80, Jacob Gratten81, Lieuwe de Haan82, Marian L Hamshere6, Mark Hansen83, Thomas Hansen22,23, Vahram Haroutunian8,84,85, Annette M Hartmann77, Frans A Henskens33,34,86, Stefan Herms49,50,87, Joel N Hirschhorn80,88,89, Per Hoffmann49,50,87, Andrea Hofman49,50, Hailiang Huang2,80, Masashi Ikeda90, Inge Joa91, Anna K Kähler21, René S Kahn31, Luba Kalaydjieva92,93, Juha Karjalainen71, David Kavanagh6, Matthew C Keller94, Brian J Kelly34, James L Kennedy95,96,97, Yunjung Kim45, James A Knowles69,98, Bettina Konte77, Claudine Laurent15,99, Phil Lee2,3,75, S Hong Lee81, Sophie E Legge6, Bernard Lerer100, Deborah L Levy53,101, Kung-Yee Liang102, Jeffrey Lieberman103, Jouko Lönnqvist104, Carmel M Loughland33,34, Patrik K E Magnusson21, Brion S Maher105, Wolfgang Maier106, Jacques Mallet107, Manuel Mattheisen23,108,109,110, Morten Mattingsdal11,111, Robert W McCarley52,53, Colm McDonald112, Andrew M McIntosh113,114, Sandra Meier70, Carin J Meijer82, Ingrid Melle11,115, Raquelle I Mesholam-Gately53,116, Andres Metspalu117, Patricia T Michie33,118, Lili Milani117, Vihra Milanova119, Younes Mokrab120, Derek W Morris42,57, Bertram Müller-Myhsok121,122,123, Kieran C Murphy124, Robin M Murray125, Inez Myin-Germeys126, Igor Nenadic127, Deborah A Nertney128, Gerald Nestadt129, Kristin K Nicodemus130, Laura Nisenbaum131, Annelie Nordin132, Eadbhard O'Callaghan133, Colm O'Dushlaine3, Sang-Yun Oh134, Ann Olincy72, Line Olsen22,23, F Anthony O'Neill135, Jim Van Os126,125, Christos Pantelis33,136, George N Papadimitriou54, Elena Parkhomenko8, Michele T Pato69,98, Tiina Paunio137, Diana O Perkins138, Tune H Pers80,89,139, Olli Pietiläinen137,140, Jonathan Pimm47, Andrew J Pocklington6, John Powell125, Alkes Price80,141, Ann E Pulver129, Shaun M Purcell74, Digby Quested142, Henrik B Rasmussen22,23, Abraham Reichenberg8,85, Mark A Reimers20, Alexander L Richards6,7, Joshua L Roffman28,29, Panos Roussos74,143, Douglas M Ruderfer6,74, Veikko Salomaa63, Alan R Sanders58,59, Adam Savitz144, Ulrich Schall33,34, Thomas G Schulze70,145, Sibylle G Schwab146, Edward M Scolnick3, Rodney J Scott18,33,147, Larry J Seidman53,116, Jianxin Shi148, Jeremy M Silverman8,149, Jordan W Smoller3,75, Erik Söderman13, Chris C A Spencer150, Eli A Stahl74,80, Eric Strengman31,151, Jana Strohmaier70, T Scott Stroup103, Jaana Suvisaari104, Dragan M Svrakic40, Jin P Szatkiewicz45, Srinivas Thirumalai152, Paul A Tooney18,33,34, Juha Veijola153,154, Peter M Visscher81, John Waddington155, Dermot Walsh156, Bradley T Webb20, Mark Weiser48, Dieter B Wildenauer157, Nigel M Williams6, Stephanie Williams45, Stephanie H Witt70, Aaron R Wolen20, Brandon K Wormley20, Naomi R Wray81, Jing Qin Wu18,33, Clement C Zai95,96, Rolf Adolfsson132, Ole A Andreassen11,115, Douglas H R Blackwood113, Elvira Bramon158, Joseph D Buxbaum8,32,85,159, Sven Cichon49,50,87,160, David A Collier120,161, Aiden Corvin42, Mark J Daly2,3,80, Ariel Darvasi162, Enrico Domenici10,163, Tõnu Esko80,88,89,117, Pablo V Gejman58,59, Michael Gill42, Hugh Gurling47, Christina M Hultman21, Nakao Iwata90, Assen V Jablensky33,93,157,164, Erik G Jönsson11,13, Kenneth S Kendler20, George Kirov6, Jo Knight95,96,97, Douglas F Levinson15, Qingqin S Li144, Steven A McCarroll3,88, Andrew McQuillin47, Jennifer L Moran3, Bryan J Mowry81,128, Markus M Nöthen49,50, Roel A Ophoff31,36,73, Michael J Owen6,7, Aarno Palotie3,75,140, Carlos N Pato69,98, Tracey L Petryshen3,29,53,165, Danielle Posthuma166,167,168, Marcella Rietschel70, Brien P Riley20, Dan Rujescu77,78, Pamela Sklar74,85,143, David St Clair169, James T R Walters6, Thomas Werge22,23,170, Patrick F Sullivan21,45,138, Michael C O'Donovan6,7, Stephen W Scherer1,171, Benjamin M Neale2,3,75,80, Jonathan Sebat4,5,172.
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 × 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 nonallelic homologous recombination.Entities:
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Year: 2016 PMID： 27869829 PMCID： PMC5737772 DOI： 10.1038/ng.3725
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330