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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Authors :
Marshall, C.R. (Christian) Howrigan, D.P. (Daniel P.) Merico, D. (Daniele) Thiruvahindrapuram, B. (Bhooma) Wu, W. (Wenting) Greer, D.S. (Douglas S.) Antaki, D. (Danny) Shetty, A. (Aniket) Holmans, P.A. (Peter A.) Pinto, D. (Duane) Gujral, M. (Madhusudan) Brandler, W.M. (William M.) Malhotra, D. (Dheeraj) Wang, Z. (Zhouzhi) Fuentes Fajarado, K.V. (Karin V.) Maile, M.S. (Michelle S.) Ripke, S. (Stephan) Agartz, I. (Ingrid) Albus, M. (Margot) Alexander, M. (Madeline) Amin, F. (Farooq) Atkins, J. (Joshua) Bacanu, S.A. (Silviu) Belliveau, R.A. (Richard A.) Bergen, S.E. (Sarah) Bertalan, M. (Marcelo) Bevilacqua, E. (Elizabeth) Bigdeli, T.B. (Tim B.) Black, D.W. (Donald) Bruggeman, R. (Richard) Buccola, N.G. (Nancy G) Buckner, M. Bulik-Sullivan, B.K. (Brendan) Byerley, W.F. (William F) Cahn, W. (Wiepke) Cai, G. (Guiqing) Cairns, M.J. (Murray J.) Campion, D. (Dominique) Cantor, R.M. Carr, V.J. (Vaughan) Carrera, N. (Noa) Catts, S.V. (Stanley) Chambert, K. (Kimberly) Cheng, W. (Wei) Cloninger, C.R. (C Robert) Cohen, D.J. (David J.) Cormican, P. (Paul) Craddock, N.J. (Nick) Crespo-Facorro, B. (Benedicto) Crowley, J.J. (James) Curtis, D. (David) Davidson, M.W. (Michael ) Davis, K.L. (Kenneth) Degenhardt, F. Del-Favero, J. (Jurgen) Delisi, L.E. (Lynn) Dikeos, D. (Dimitris) Dinan, T. (Timothy) Djurovic, S. (Srdjan) Donohoe, D.J. (Dennis) Drapeau, E. (Elodie) Duan, J. (Jubao) Dudbridge, F. (Frank) Eichhammer, P. (Peter) Hagen, K. (Knut) Escott-Price, V. (Valentina) Essioux, L. (Laurent) Fanous, A.H. (Ayman H.) Farh, K.-H. (Kai-How) Farrell, M.S. (Martilias) Frank, J. (Josef) Franke, L. (Lude) Freedman, R. (Robert) Freimer, N.B. (Nelson) Friedman, J.I. (Joseph) Forstner, A.J. (Andreas) Fromer, M. (Menachem) Genovese, G. (Giulio) Georgieva, I. (Irina) Gershon, E.S. (Elliot S.) Giegling, I. (Ina) Giusti-Rodríguez, P. (Paola) Godard, S. (Stephanie) Goldstein, J.I. (Jacqueline) Gratten, J. (Jacob) Haan, L. (Lieuwe) de Hamshere, M.L. (Marian) Hansen, M. (Mark) Hansen, T. (Thomas) Haroutunian, V. (Vahram) Hartmann, A.M. (Annette M) Henskens, F.A. (Frans) Herms, S. (Stefan) Hirschhorn, J.N. (Joel) Hoffmann, P. (Per) Hofman, A. (Andrea) Huang, H. (Hailiang) Ikeda, M. (Masashi) Joa, I. (Inge) Kähler, J. (Jan) Kahn, R. (René) Kalaydjieva, L. (Luba) Karjalainen, J. (Juha) Kavanagh, D. (David) Keller, M.C. (Matthew C) Kelly, B.J. (Brian J.) Kennedy, J.L. Kim, Y. (Yunjung) Knowles, J.A. (James A) Konte, B. (Bettina) Laurent, C. (Camille) Lee, P.H. (Phil) Lee, S.U. (Seung) Legge, S.E. (Sophie) Lerer, B. (Bernard) Levy, D.L. (Deborah L.) Liang, K.-Y. (Kung-Yee) Lieberman, A.P. (Andrew) Lönnqvist, J. (Jouko) Loughland, C.M. (Carmel) Magnusson, P.K. (Patrik) Maher, B.S. (Brion) Maier, W. (Wolfgang) Mallet, V. (Vincent) Mattheisen, M. (Manuel) Mattingsdal, M. (Morten) McCarley, R.W. (Robert) McDonald, C. (Colm) McIntosh, A.M. (Andrew) Meier, S. Meijer, C. (Carin) Melle, I. (Ingrid) Mesholam-Gately, R.I. (Raquelle) Metspalu, A. (Andres) Michie, P.T. (Patricia) Milani, L. (Lili) Milanova, V. (Vihra) Mokrab, Y. (Younes) Morris, D.W. (Derek W) Müller-Myhsok, B. (B.) Murphy, K.C. (Kieran) Murray, R. (Robin) Myin-Germeys, I. (Inez) Nenadic, I. (Igor) Nertney, D.A. (Deborah) Nestadt, G. (Gerald) Nicodemus, K.K. (Kristin) Nisenbaum, L. (Laura) Nordin, A. (Annelie) O'Callaghan, E. (Eadbhard) O'Dushlaine, C. (Colm) Oh, S.-Y. (Sang-Yun) Olincy, A. (Ann) Olsen, L. (Line) O'Neill, F.A. (Francis) Os, J. (Jim) van Pantelis, C. (Christos) Papadimitriou, G.N. (George) Parkhomenko, E. (Elena) Pato, C. (Carlos) Paunio, T. (Tiina) Perkins, D.O. (Diana O.) Pers, T.H. (Tune) Pietiläinen, O.P.H. (Olli) Pimm, J. (Jonathan) Pocklington, A.J. (Andrew) Powell, J. (John) Price, A. (Alkes) Pulver, A.E. (Ann) Purcell, S.M. (Shaun M.) Quested, D.J. (Digby J) Rasmussen, H.B. (Henrik B) Reichenberg, A. (Abraham) Reimers, B. (Bernhard) Richards, A. (Alex) Roffman, J.L. (Joshua) Roussos, A. (Alexandra) Ruderfer, D. (Douglas) Salomaa, V. (Veikko) Sanders, A.R. (Alan) Savitz, A. (Adam) Schall, J.D. (Jeffrey) Schulze, T.G. (Thomas) Schwab, S.G. (Sibylle G.) Scolnick, E. (Edward) Scott, R.J. (Rodney) Seidman, L.J. (Larry) Shi, J. (Jianxin) Silverman, J.M. (Jeremy M.) Smoller, J.W. Söderman, E. (Erik) Spencer, C.C.A. (Chris C.) Stahl, E.A. (Eli A.) Strengman, E. (Eric) Strohmaier, J. Stroup, T.S. (T. Scott) Suvisaari, J. (Jaana) Svrakic, D.M. (Dragan) Szatkiewicz, J.P. (Jin P.) Thirumalai, S. (Srinivasa) Tooney, P.A. (Paul A.) Veijola, J. (Juha) Visscher, P.M. (Peter) Waddington, J. (Joanne) Walsh, D. (Dermot) Webb, B.T. (Bradley T.) Weiser, M. (Mark) Wildenauer, D.B. (Dieter) Williams, N.M. (Nigel M.) Williams, S. (Stephanie) Witt, S.H. (Stephanie H) Wolen, A.R. (Aaron) Wormley, B.K. (Brandon K.) Wray, N.R. (Naomi) Wu, J.Q. (Jing Qin) Zai, C.C. (Clement) Adolfsson, R. Andreassen, O.A. (Ole A.) Blackwood, D.H.R. (Douglas) Bramon, E. (Elvira) Buxbaum, J.D. (Joseph D) Cichon, S. (Sven) Collier, D.A. (David) Corvin, A. (Aiden) Daly, M.J. (Mark J.) Darvasi, A. (Ariel) Domenici, E. (Enrico) Esko, T. (Tõnu) Gejman, P.V. (Pablo) Gill, M. (Michael) Gurling, H. (Hugh) Hultman, C.M. (Christina) Iwata, N. (Nakao) Jablensky, A. (Assen) Jönsson, E.G. (Erik) Kendler, K. (K.) Kirov, G. (George) Knight, J. (Jo) Levinson, D.F. (Douglas F.) Li, Q.S. (Qingqin S.) McCarroll, S.A. (Steve) McQuillin, A. (Andrew) Moran, J.L. (Jennifer L) Mowry, B.J. (Bryan J) Nöthen, M.M. (Markus) Ophoff, R.A. (Roel A.) Owen, M.J. (Michael) Palotie, A. (Aarno) Petryshen, T.L. (Tracey) Posthuma, D. (Danielle) Rietschel, M. (Marcella) Riley, B.P. (Brien P.) Rujescu, D. (Dan) Sklar, P. (Pamela) St Clair, D. (David) Walters, J.T. (James) Werge, T.M. (Thomas) Sullivan, P.F. (Patrick) O'donovan, M.C. (Michael) Scherer, S.W. (Stephen) Neale, B.M. (Benjamin) Sebat, J. (Jonathan) Marshall, C.R. (Christian) Howrigan, D.P. (Daniel P.) Merico, D. (Daniele) Thiruvahindrapuram, B. (Bhooma) Wu, W. (Wenting) Greer, D.S. (Douglas S.) Antaki, D. (Danny) Shetty, A. (Aniket) Holmans, P.A. (Peter A.) Pinto, D. (Duane) Gujral, M. (Madhusudan) Brandler, W.M. (William M.) Malhotra, D. (Dheeraj) Wang, Z. (Zhouzhi) Fuentes Fajarado, K.V. (Karin V.) Maile, M.S. (Michelle S.) Ripke, S. (Stephan) Agartz, I. (Ingrid) Albus, M. (Margot) Alexander, M. (Madeline) Amin, F. (Farooq) Atkins, J. (Joshua) Bacanu, S.A. (Silviu) Belliveau, R.A. (Richard A.) Bergen, S.E. (Sarah) Bertalan, M. (Marcelo) Bevilacqua, E. (Elizabeth) Bigdeli, T.B. (Tim B.) Black, D.W. (Donald) Bruggeman, R. (Richard) Buccola, N.G. (Nancy G) Buckner, M. Bulik-Sullivan, B.K. (Brendan) Byerley, W.F. (William F) Cahn, W. (Wiepke) Cai, G. (Guiqing) Cairns, M.J. (Murray J.) Campion, D. (Dominique) Cantor, R.M. Carr, V.J. (Vaughan) Carrera, N. (Noa) Catts, S.V. (Stanley) Chambert, K. (Kimberly) Cheng, W. (Wei) Cloninger, C.R. (C Robert) Cohen, D.J. (David J.) Cormican, P. (Paul) Craddock, N.J. (Nick) Crespo-Facorro, B. (Benedicto) Crowley, J.J. (James) Curtis, D. (David) Davidson, M.W. (Michael ) Davis, K.L. (Kenneth) Degenhardt, F. Del-Favero, J. (Jurgen) Delisi, L.E. (Lynn) Dikeos, D. (Dimitris) Dinan, T. (Timothy) Djurovic, S. (Srdjan) Donohoe, D.J. (Dennis) Drapeau, E. (Elodie) Duan, J. (Jubao) Dudbridge, F. (Frank) Eichhammer, P. (Peter) Hagen, K. (Knut) Escott-Price, V. (Valentina) Essioux, L. (Laurent) Fanous, A.H. (Ayman H.) Farh, K.-H. (Kai-How) Farrell, M.S. (Martilias) Frank, J. (Josef) Franke, L. (Lude) Freedman, R. (Robert) Freimer, N.B. (Nelson) Friedman, J.I. (Joseph) Forstner, A.J. (Andreas) Fromer, M. (Menachem) Genovese, G. (Giulio) Georgieva, I. (Irina) Gershon, E.S. (Elliot S.) Giegling, I. (Ina) Giusti-Rodríguez, P. (Paola) Godard, S. (Stephanie) Goldstein, J.I. (Jacqueline) Gratten, J. (Jacob) Haan, L. (Lieuwe) de Hamshere, M.L. (Marian) Hansen, M. (Mark) Hansen, T. (Thomas) Haroutunian, V. (Vahram) Hartmann, A.M. (Annette M) Henskens, F.A. (Frans) Herms, S. (Stefan) Hirschhorn, J.N. (Joel) Hoffmann, P. (Per) Hofman, A. (Andrea) Huang, H. (Hailiang) Ikeda, M. (Masashi) Joa, I. (Inge) Kähler, J. (Jan) Kahn, R. (René) Kalaydjieva, L. (Luba) Karjalainen, J. (Juha) Kavanagh, D. (David) Keller, M.C. (Matthew C) Kelly, B.J. (Brian J.) Kennedy, J.L. Kim, Y. (Yunjung) Knowles, J.A. (James A) Konte, B. (Bettina) Laurent, C. (Camille) Lee, P.H. (Phil) Lee, S.U. (Seung) Legge, S.E. (Sophie) Lerer, B. (Bernard) Levy, D.L. (Deborah L.) Liang, K.-Y. (Kung-Yee) Lieberman, A.P. (Andrew) Lönnqvist, J. (Jouko) Loughland, C.M. (Carmel) Magnusson, P.K. (Patrik) Maher, B.S. (Brion) Maier, W. (Wolfgang) Mallet, V. (Vincent) Mattheisen, M. (Manuel) Mattingsdal, M. (Morten) McCarley, R.W. (Robert) McDonald, C. (Colm) McIntosh, A.M. (Andrew) Meier, S. Meijer, C. (Carin) Melle, I. (Ingrid) Mesholam-Gately, R.I. (Raquelle) Metspalu, A. (Andres) Michie, P.T. (Patricia) Milani, L. (Lili) Milanova, V. (Vihra) Mokrab, Y. (Younes) Morris, D.W. (Derek W) Müller-Myhsok, B. (B.) Murphy, K.C. (Kieran) Murray, R. (Robin) Myin-Germeys, I. (Inez) Nenadic, I. (Igor) Nertney, D.A. (Deborah) Nestadt, G. (Gerald) Nicodemus, K.K. (Kristin) Nisenbaum, L. (Laura) Nordin, A. (Annelie) O'Callaghan, E. (Eadbhard) O'Dushlaine, C. (Colm) Oh, S.-Y. (Sang-Yun) Olincy, A. (Ann) Olsen, L. (Line) O'Neill, F.A. (Francis) Os, J. (Jim) van Pantelis, C. (Christos) Papadimitriou, G.N. (George) Parkhomenko, E. (Elena) Pato, C. (Carlos) Paunio, T. (Tiina) Perkins, D.O. (Diana O.) Pers, T.H. (Tune) Pietiläinen, O.P.H. (Olli) Pimm, J. (Jonathan) Pocklington, A.J. (Andrew) Powell, J. (John) Price, A. (Alkes) Pulver, A.E. (Ann) Purcell, S.M. (Shaun M.) Quested, D.J. (Digby J) Rasmussen, H.B. (Henrik B) Reichenberg, A. (Abraham) Reimers, B. (Bernhard) Richards, A. (Alex) Roffman, J.L. (Joshua) Roussos, A. (Alexandra) Ruderfer, D. (Douglas) Salomaa, V. (Veikko) Sanders, A.R. (Alan) Savitz, A. (Adam) Schall, J.D. (Jeffrey) Schulze, T.G. (Thomas) Schwab, S.G. (Sibylle G.) Scolnick, E. (Edward) Scott, R.J. (Rodney) Seidman, L.J. (Larry) Shi, J. (Jianxin) Silverman, J.M. (Jeremy M.) Smoller, J.W. Söderman, E. (Erik) Spencer, C.C.A. (Chris C.) Stahl, E.A. (Eli A.) Strengman, E. (Eric) Strohmaier, J. Stroup, T.S. (T. Scott) Suvisaari, J. (Jaana) Svrakic, D.M. (Dragan) Szatkiewicz, J.P. (Jin P.) Thirumalai, S. (Srinivasa) Tooney, P.A. (Paul A.) Veijola, J. (Juha) Visscher, P.M. (Peter) Waddington, J. (Joanne) Walsh, D. (Dermot) Webb, B.T. (Bradley T.) Weiser, M. (Mark) Wildenauer, D.B. (Dieter) Williams, N.M. (Nigel M.) Williams, S. (Stephanie) Witt, S.H. (Stephanie H) Wolen, A.R. (Aaron) Wormley, B.K. (Brandon K.) Wray, N.R. (Naomi) Wu, J.Q. (Jing Qin) Zai, C.C. (Clement) Adolfsson, R. Andreassen, O.A. (Ole A.) Blackwood, D.H.R. (Douglas) Bramon, E. (Elvira) Buxbaum, J.D. (Joseph D) Cichon, S. (Sven) Collier, D.A. (David) Corvin, A. (Aiden) Daly, M.J. (Mark J.) Darvasi, A. (Ariel) Domenici, E. (Enrico) Esko, T. (Tõnu) Gejman, P.V. (Pablo) Gill, M. (Michael) Gurling, H. (Hugh) Hultman, C.M. (Christina) Iwata, N. (Nakao) Jablensky, A. (Assen) Jönsson, E.G. (Erik) Kendler, K. (K.) Kirov, G. (George) Knight, J. (Jo) Levinson, D.F. (Douglas F.) Li, Q.S. (Qingqin S.) McCarroll, S.A. (Steve) McQuillin, A. (Andrew) Moran, J.L. (Jennifer L) Mowry, B.J. (Bryan J) Nöthen, M.M. (Markus) Ophoff, R.A. (Roel A.) Owen, M.J. (Michael) Palotie, A. (Aarno) Petryshen, T.L. (Tracey) Posthuma, D. (Danielle) Rietschel, M. (Marcella) Riley, B.P. (Brien P.) Rujescu, D. (Dan) Sklar, P. (Pamela) St Clair, D. (David) Walters, J.T. (James) Werge, T.M. (Thomas) Sullivan, P.F. (Patrick) O'donovan, M.C. (Michael) Scherer, S.W. (Stephen) Neale, B.M. (Benjamin) Sebat, J. (Jonathan)
Publication Year :
2017
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.
Details
Database :
OAIster
Notes :
Nature Genetics vol. 49 no. 1, pp. 27-35, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1047726498
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1038.ng.3725