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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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... Full description

Journal Title: Marshall Christian R; Howrigan, Daniel P; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S; Antaki, Danny; Shetty, Aniket; Holmans, Peter A; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M; Malhotra, Dheeraj; Wang, Zhouzhi; Fajarado, Karin V Fuentes; Maile, Michelle S; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A; Belliveau, Richard A; Bergen, Sarah E; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B; Black, Donald W; Bruggeman, Richard; Buccola, Nancy G; Buckner, Randy L; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J; Campion, Dominique; Cantor, Rita M; Carr, Vaughan J; Carrera, Noa; Catts, Stanley V; Chambert, Kimberley D; Cheng, Wei; Cloninger, C Robert; Cohen, David; Cormican, Paul; Craddock, Nick; Crespo-Facorro, Benedicto; Crowley, James J; Curtis, David; Davidson, Michael; Davis, Kenneth L; Degenhardt, Franziska; Del Favero, Jurgen; DeLisi, Lynn E; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H; Farh, Kai-How; Farrell, Martilias S; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B; Friedman, Joseph I; Forstner, Andreas J; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Gershon, Elliot S; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; Gratten, Jacob; de Haan, Lieuwe; Hamshere, Marian L; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M; Henskens, Frans A; Herms, Stefan; Hirschhorn, Joel N; Hoffmann, Per; Hofman, Andrea; Huang, Hailiang; Ikeda, Masashi; Joa, Inge; Kähler, Anna K; Kahn, René S; Kalaydjieva, Luba; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C; Kelly, Brian J; Kennedy, James L; Kim, Yunjung; Knowles, James A; Konte, Bettina; Laurent, Claudine; Lee, Phil; Lee, S Hong; Legge, Sophie E; Lerer, Bernard; Levy, Deborah L; Liang, Kung-Yee; Lieberman, Jeffrey; Lönnqvist, Jouko; Loughland, Carmel M; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Mallet, Jacques; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W; McDonald, Colm; McIntosh, Andrew M; Meier, Sandra; Meijer, Carin J; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W; Müller-Myhsok, Bertram; Murphy, Kieran C; Murray, Robin M; Myin-Germeys, Inez; Nenadic, Igor; Nertney, Deborah A; Nestadt, Gerald; Nicodemus, Kristin K; Nisenbaum, Laura; Nordin, Annelie; O'Callaghan, Eadbhard; O'Dushlaine, Colm; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; O'Neill, F Anthony; Van Os, Jim; Pantelis, Christos; Papadimitriou, George N; Parkhomenko, Elena; Pato, Michele T; Paunio, Tiina; Perkins, Diana O; Pers, Tune H; Pietiläinen, Olli; Pimm, Jonathan; Pocklington, Andrew J; Powell, John; Price, Alkes; Pulver, Ann E; Purcell, Shaun M; Quested, Digby; Rasmussen, Henrik B; Reichenberg, Abraham; Reimers, Mark A; Richards, Alexander L; Roffman, Joshua L; Roussos, Panos; Ruderfer, Douglas M; Salomaa, Veikko; Sanders, Alan R; Savitz, Adam; Schall, Ulrich; Schulze, Thomas G; Schwab, Sibylle G; Scolnick, Edward M; Scott, Rodney J; Seidman, Larry J; Shi, Jianxin; Silverman, Jeremy M; Smoller, Jordan W; Söderman, Erik; Spencer, Chris C A; Stahl, Eli A; Strengman, Eric; Strohmaier, Jana; Stroup, T Scott; Suvisaari, Jaana; Svrakic, Dragan M; Szatkiewicz, Jin P; Thirumalai, Srinivas; Tooney, Paul A; Veijola, Juha; Visscher, Peter M; Waddington, John; Walsh, Dermot; Webb, Bradley T; Weiser, Mark; Wildenauer, Dieter B; Williams, Nigel M; Williams, Stephanie; Witt, Stephanie H; Wolen, Aaron R; Wormley, Brandon K; Wray, Naomi R; Wu, Jing Qin; Zai, Clement C; Adolfsson, Rolf; Andreassen, Ole A; Blackwood, Douglas H R; Bramon, Elvira; Buxbaum, Joseph D; Cichon, Sven; Collier, David A; Corvin, Aiden; Daly, Mark J; Darvasi, Ariel; Domenici, Enrico; Esko, Tõnu; Gejman, Pablo V; Gill, Michael; Gurling, Hugh; Hultman, Christina M; Iwata, Nakao; Jablensky, Assen V; Jönsson, Erik G; Kendler, Kenneth S; Kirov, George; Knight, Jo; Levinson, Douglas F; Li, Qingqin S; McCarroll, Steven A; McQuillin, Andrew; Moran, Jennifer L; Mowry, Bryan J; Nöthen, Markus M; Ophoff, Roel A; Owen, Michael J; Palotie, Aarno; Pato, Carlos N; Petryshen, Tracey L; Posthuma, Danielle; Rietschel, Marcella; Riley, Brien P; Rujescu, Dan; Sklar, Pamela; St Clair, David; Walters, James T R; Werge, Thomas; Sullivan, Patrick F; O'Donovan, Michael C; Scherer, Stephen W; Neale, Benjamin M; Sebat, Jonathan (2016). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49 (1), 27-35
Main Author: Marshall, Christian R
Other Authors: Howrigan, Daniel P , Merico, Daniele , Thiruvahindrapuram, Bhooma , Wu, Wenting , Greer, Douglas S , Antaki, Danny , Shetty, Aniket , Holmans, Peter A , Pinto, Dalila , Gujral, Madhusudan , Brandler, William M , Malhotra, Dheeraj , Wang, Zhouzhi , Fajarado, Karin V Fuentes , Maile, Michelle S , Ripke, Stephan , Agartz, Ingrid , Albus, Margot , Alexander, Madeline , Amin, Farooq , Atkins, Joshua , Bacanu, Silviu A , Belliveau, Richard A , Bergen, Sarah E , Bertalan, Marcelo , Bevilacqua, Elizabeth , Bigdeli, Tim B , Black, Donald W , Bruggeman, Richard , Buccola, Nancy G , Buckner, Randy L , Bulik-Sullivan, Brendan , Byerley, William , Cahn, Wiepke , Cai, Guiqing , Cairns, Murray J , Campion, Dominique , Cantor, Rita M , Carr, Vaughan J , Carrera, Noa , Catts, Stanley V , Chambert, Kimberley D , Cheng, Wei , Cloninger, C Robert , Cohen, David , Cormican, Paul , Craddock, Nick , Crespo-Facorro, Benedicto , Crowley, James J , Curtis, David , Davidson, Michael , Davis, Kenneth L , Degenhardt, Franziska , Del Favero, Jurgen , Delisi, Lynn E , Dikeos, Dimitris , Dinan, Timothy , Djurovic, Srdjan , Donohoe, Gary , Drapeau, Elodie , Duan, Jubao , Dudbridge, Frank , Eichhammer, Peter , Eriksson, Johan , Escott-Price, Valentina , Essioux, Laurent , Fanous, Ayman H , Farh, Kai-How , Farrell, Martilias S , Frank, Josef , Franke, Lude , Freedman, Robert , Freimer, Nelson B , Friedman, Joseph I , Forstner, Andreas J , Fromer, Menachem , Genovese, Giulio , Georgieva, Lyudmila , Gershon, Elliot S , Giegling, Ina , Giusti-Rodríguez, Paola , Godard, Stephanie , Goldstein, Jacqueline I , Gratten, Jacob , De Haan, Lieuwe , Hamshere, Marian L , Hansen, Mark , Hansen, Thomas , Haroutunian, Vahram , Hartmann, Annette M , Henskens, Frans A , Herms, Stefan , Hirschhorn, Joel N , Hoffmann, Per , Hofman, Andrea , Huang, Hailiang , Ikeda, Masashi , Joa, Inge , Kähler, Anna K , Kahn, René S , Kalaydjieva, Luba , Karjalainen, Juha , Kavanagh, David , Keller, Matthew C , Kelly, Brian J , Kennedy, James L , Kim, Yunjung , Knowles, James A , Konte, Bettina , Laurent, Claudine , Lee, Phil , Lee, S Hong , Legge, Sophie E , Lerer, Bernard , Levy, Deborah L , Liang, Kung-Yee , Lieberman, Jeffrey , Lönnqvist, Jouko , Loughland, Carmel M , Magnusson, Patrik K E , Maher, Brion S , Maier, Wolfgang , Mallet, Jacques , Mattheisen, Manuel , Mattingsdal, Morten , Mccarley, Robert W , Mcdonald, Colm , Mcintosh, Andrew M , Meier, Sandra , Meijer, Carin J , Melle, Ingrid , Mesholam-Gately, Raquelle I , Metspalu, Andres , Michie, Patricia T , Milani, Lili , Milanova, Vihra , Mokrab, Younes , Morris, Derek W , Müller-Myhsok, Bertram , Murphy, Kieran C , Murray, Robin M , Myin-Germeys, Inez , Nenadic, Igor , Nertney, Deborah A , Nestadt, Gerald , Nicodemus, Kristin K , Nisenbaum, Laura , Nordin, Annelie , O'Callaghan, Eadbhard , O'Dushlaine, Colm , Oh, Sang-Yun , Olincy, Ann , Olsen, Line , O'Neill, F Anthony , Van Os, Jim , Pantelis, Christos , Papadimitriou, George N , Parkhomenko, Elena , Pato, Michele T , Paunio, Tiina , Perkins, Diana O , Pers, Tune H , Pietiläinen, Olli , Pimm, Jonathan , Pocklington, Andrew J , Powell, John , Price, Alkes , Pulver, Ann E , Purcell, Shaun M , Quested, Digby , Rasmussen, Henrik B , Reichenberg, Abraham , Reimers, Mark A , Richards, Alexander L , Roffman, Joshua L , Roussos, Panos , Ruderfer, Douglas M , Salomaa, Veikko , Sanders, Alan R , Savitz, Adam , Schall, Ulrich , Schulze, Thomas G , Schwab, Sibylle G , Scolnick, Edward M , Scott, Rodney J , Seidman, Larry J , Shi, Jianxin , Silverman, Jeremy M , Smoller, Jordan W , Söderman, Erik , Spencer, Chris C A , Stahl, Eli A , Strengman, Eric , Strohmaier, Jana , Stroup, T Scott , Suvisaari, Jaana , Svrakic, Dragan M , Szatkiewicz, Jin P , Thirumalai, Srinivas , Tooney, Paul A , Veijola, Juha , Visscher, Peter M , Waddington, John , Walsh, Dermot , Webb, Bradley T , Weiser, Mark , Wildenauer, Dieter B , Williams, Nigel M , Williams, Stephanie , Witt, Stephanie H , Wolen, Aaron R , Wormley, Brandon K , Wray, Naomi R , Wu, Jing Qin , Zai, Clement C , Adolfsson, Rolf , Andreassen, Ole A , Blackwood, Douglas H R , Bramon, Elvira , Buxbaum, Joseph D , Cichon, Sven , Collier, David A , Corvin, Aiden , Daly, Mark J , Darvasi, Ariel , Domenici, Enrico , Esko, Tõnu , Gejman, Pablo V , Gill, Michael , Gurling, Hugh , Hultman, Christina M , Iwata, Nakao , Jablensky, Assen V , Jönsson, Erik G , Kendler, Kenneth S , Kirov, George , Knight, Jo , Levinson, Douglas F , Li, Qingqin S , Mccarroll, Steven A , Mcquillin, Andrew , Moran, Jennifer L , Mowry, Bryan J , Nöthen, Markus M , Ophoff, Roel A , Owen, Michael J , Palotie, Aarno , Pato, Carlos N , Petryshen, Tracey L
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ID: DOI: 10.1038/ng.3725
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recordid: aran10379/12654
title: Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
format: Article
creator:
  • Marshall, Christian R
  • Howrigan, Daniel P
  • Merico, Daniele
  • Thiruvahindrapuram, Bhooma
  • Wu, Wenting
  • Greer, Douglas S
  • Antaki, Danny
  • Shetty, Aniket
  • Holmans, Peter A
  • Pinto, Dalila
  • Gujral, Madhusudan
  • Brandler, William M
  • Malhotra, Dheeraj
  • Wang, Zhouzhi
  • Fajarado, Karin V Fuentes
  • Maile, Michelle S
  • Ripke, Stephan
  • Agartz, Ingrid
  • Albus, Margot
  • Alexander, Madeline
  • Amin, Farooq
  • Atkins, Joshua
  • Bacanu, Silviu A
  • Belliveau, Richard A
  • Bergen, Sarah E
  • Bertalan, Marcelo
  • Bevilacqua, Elizabeth
  • Bigdeli, Tim B
  • Black, Donald W
  • Bruggeman, Richard
  • Buccola, Nancy G
  • Buckner, Randy L
  • Bulik-Sullivan, Brendan
  • Byerley, William
  • Cahn, Wiepke
  • Cai, Guiqing
  • Cairns, Murray J
  • Campion, Dominique
  • Cantor, Rita M
  • Carr, Vaughan J
  • Carrera, Noa
  • Catts, Stanley V
  • Chambert, Kimberley D
  • Cheng, Wei
  • Cloninger, C Robert
  • Cohen, David
  • Cormican, Paul
  • Craddock, Nick
  • Crespo-Facorro, Benedicto
  • Crowley, James J
  • Curtis, David
  • Davidson, Michael
  • Davis, Kenneth L
  • Degenhardt, Franziska
  • Del Favero, Jurgen
  • Delisi, Lynn E
  • Dikeos, Dimitris
  • Dinan, Timothy
  • Djurovic, Srdjan
  • Donohoe, Gary
  • Drapeau, Elodie
  • Duan, Jubao
  • Dudbridge, Frank
  • Eichhammer, Peter
  • Eriksson, Johan
  • Escott-Price, Valentina
  • Essioux, Laurent
  • Fanous, Ayman H
  • Farh, Kai-How
  • Farrell, Martilias S
  • Frank, Josef
  • Franke, Lude
  • Freedman, Robert
  • Freimer, Nelson B
  • Friedman, Joseph I
  • Forstner, Andreas J
  • Fromer, Menachem
  • Genovese, Giulio
  • Georgieva, Lyudmila
  • Gershon, Elliot S
  • Giegling, Ina
  • Giusti-Rodríguez, Paola
  • Godard, Stephanie
  • Goldstein, Jacqueline I
  • Gratten, Jacob
  • De Haan, Lieuwe
  • Hamshere, Marian L
  • Hansen, Mark
  • Hansen, Thomas
  • Haroutunian, Vahram
  • Hartmann, Annette M
  • Henskens, Frans A
  • Herms, Stefan
  • Hirschhorn, Joel N
  • Hoffmann, Per
  • Hofman, Andrea
  • Huang, Hailiang
  • Ikeda, Masashi
  • Joa, Inge
  • Kähler, Anna K
  • Kahn, René S
  • Kalaydjieva, Luba
  • Karjalainen, Juha
  • Kavanagh, David
  • Keller, Matthew C
  • Kelly, Brian J
  • Kennedy, James L
  • Kim, Yunjung
  • Knowles, James A
  • Konte, Bettina
  • Laurent, Claudine
  • Lee, Phil
  • Lee, S Hong
  • Legge, Sophie E
  • Lerer, Bernard
  • Levy, Deborah L
  • Liang, Kung-Yee
  • Lieberman, Jeffrey
  • Lönnqvist, Jouko
  • Loughland, Carmel M
  • Magnusson, Patrik K E
  • Maher, Brion S
  • Maier, Wolfgang
  • Mallet, Jacques
  • Mattheisen, Manuel
  • Mattingsdal, Morten
  • Mccarley, Robert W
  • Mcdonald, Colm
  • Mcintosh, Andrew M
  • Meier, Sandra
  • Meijer, Carin J
  • Melle, Ingrid
  • Mesholam-Gately, Raquelle I
  • Metspalu, Andres
  • Michie, Patricia T
  • Milani, Lili
  • Milanova, Vihra
  • Mokrab, Younes
  • Morris, Derek W
  • Müller-Myhsok, Bertram
  • Murphy, Kieran C
  • Murray, Robin M
  • Myin-Germeys, Inez
  • Nenadic, Igor
  • Nertney, Deborah A
  • Nestadt, Gerald
  • Nicodemus, Kristin K
  • Nisenbaum, Laura
  • Nordin, Annelie
  • O'Callaghan, Eadbhard
  • O'Dushlaine, Colm
  • Oh, Sang-Yun
  • Olincy, Ann
  • Olsen, Line
  • O'Neill, F Anthony
  • Van Os, Jim
  • Pantelis, Christos
  • Papadimitriou, George N
  • Parkhomenko, Elena
  • Pato, Michele T
  • Paunio, Tiina
  • Perkins, Diana O
  • Pers, Tune H
  • Pietiläinen, Olli
  • Pimm, Jonathan
  • Pocklington, Andrew J
  • Powell, John
  • Price, Alkes
  • Pulver, Ann E
  • Purcell, Shaun M
  • Quested, Digby
  • Rasmussen, Henrik B
  • Reichenberg, Abraham
  • Reimers, Mark A
  • Richards, Alexander L
  • Roffman, Joshua L
  • Roussos, Panos
  • Ruderfer, Douglas M
  • Salomaa, Veikko
  • Sanders, Alan R
  • Savitz, Adam
  • Schall, Ulrich
  • Schulze, Thomas G
  • Schwab, Sibylle G
  • Scolnick, Edward M
  • Scott, Rodney J
  • Seidman, Larry J
  • Shi, Jianxin
  • Silverman, Jeremy M
  • Smoller, Jordan W
  • Söderman, Erik
  • Spencer, Chris C A
  • Stahl, Eli A
  • Strengman, Eric
  • Strohmaier, Jana
  • Stroup, T Scott
  • Suvisaari, Jaana
  • Svrakic, Dragan M
  • Szatkiewicz, Jin P
  • Thirumalai, Srinivas
  • Tooney, Paul A
  • Veijola, Juha
  • Visscher, Peter M
  • Waddington, John
  • Walsh, Dermot
  • Webb, Bradley T
  • Weiser, Mark
  • Wildenauer, Dieter B
  • Williams, Nigel M
  • Williams, Stephanie
  • Witt, Stephanie H
  • Wolen, Aaron R
  • Wormley, Brandon K
  • Wray, Naomi R
  • Wu, Jing Qin
  • Zai, Clement C
  • Adolfsson, Rolf
  • Andreassen, Ole A
  • Blackwood, Douglas H R
  • Bramon, Elvira
  • Buxbaum, Joseph D
  • Cichon, Sven
  • Collier, David A
  • Corvin, Aiden
  • Daly, Mark J
  • Darvasi, Ariel
  • Domenici, Enrico
  • Esko, Tõnu
  • Gejman, Pablo V
  • Gill, Michael
  • Gurling, Hugh
  • Hultman, Christina M
  • Iwata, Nakao
  • Jablensky, Assen V
  • Jönsson, Erik G
  • Kendler, Kenneth S
  • Kirov, George
  • Knight, Jo
  • Levinson, Douglas F
  • Li, Qingqin S
  • Mccarroll, Steven A
  • Mcquillin, Andrew
  • Moran, Jennifer L
  • Mowry, Bryan J
  • Nöthen, Markus M
  • Ophoff, Roel A
  • Owen, Michael J
  • Palotie, Aarno
  • Pato, Carlos N
  • Petryshen, Tracey L
subjects:
  • Gene
  • 16p11.2
  • Autism
  • Risk
  • Cnvs
  • Rearrangements
  • Duplications
  • Phenotypes
  • Disorders
  • Mutations
ispartof: Marshall, Christian R; Howrigan, Daniel P; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S; Antaki, Danny; Shetty, Aniket; Holmans, Peter A; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M; Malhotra, Dheeraj; Wang, Zhouzhi; Fajarado, Karin V Fuentes; Maile, Michelle S; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A; Belliveau, Richard A; Bergen, Sarah E; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B; Black, Donald W; Bruggeman, Richard; Buccola, Nancy G; Buckner, Randy L; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J; Campion, Dominique; Cantor, Rita M; Carr, Vaughan J; Carrera, Noa; Catts, Stanley V; Chambert, Kimberley D; Cheng, Wei; Cloninger, C Robert; Cohen, David; Cormican, Paul; Craddock, Nick; Crespo-Facorro, Benedicto; Crowley, James J; Curtis, David; Davidson, Michael; Davis, Kenneth L; Degenhardt, Franziska; Del Favero, Jurgen; DeLisi, Lynn E; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H; Farh, Kai-How; Farrell, Martilias S; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B; Friedman, Joseph I; Forstner, Andreas J; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Gershon, Elliot S; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; Gratten, Jacob; de Haan, Lieuwe; Hamshere, Marian L; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M; Henskens, Frans A; Herms, Stefan; Hirschhorn, Joel N; Hoffmann, Per; Hofman, Andrea; Huang, Hailiang; Ikeda, Masashi; Joa, Inge; Kähler, Anna K; Kahn, René S; Kalaydjieva, Luba; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C; Kelly, Brian J; Kennedy, James L; Kim, Yunjung; Knowles, James A; Konte, Bettina; Laurent, Claudine; Lee, Phil; Lee, S Hong; Legge, Sophie E; Lerer, Bernard; Levy, Deborah L; Liang, Kung-Yee; Lieberman, Jeffrey; Lönnqvist, Jouko; Loughland, Carmel M; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Mallet, Jacques; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W; McDonald, Colm; McIntosh, Andrew M; Meier, Sandra; Meijer, Carin J; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W; Müller-Myhsok, Bertram; Murphy, Kieran C; Murray, Robin M; Myin-Germeys, Inez; Nenadic, Igor; Nertney, Deborah A; Nestadt, Gerald; Nicodemus, Kristin K; Nisenbaum, Laura; Nordin, Annelie; O'Callaghan, Eadbhard; O'Dushlaine, Colm; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; O'Neill, F Anthony; Van Os, Jim; Pantelis, Christos; Papadimitriou, George N; Parkhomenko, Elena; Pato, Michele T; Paunio, Tiina; Perkins, Diana O; Pers, Tune H; Pietiläinen, Olli; Pimm, Jonathan; Pocklington, Andrew J; Powell, John; Price, Alkes; Pulver, Ann E; Purcell, Shaun M; Quested, Digby; Rasmussen, Henrik B; Reichenberg, Abraham; Reimers, Mark A; Richards, Alexander L; Roffman, Joshua L; Roussos, Panos; Ruderfer, Douglas M; Salomaa, Veikko; Sanders, Alan R; Savitz, Adam; Schall, Ulrich; Schulze, Thomas G; Schwab, Sibylle G; Scolnick, Edward M; Scott, Rodney J; Seidman, Larry J; Shi, Jianxin; Silverman, Jeremy M; Smoller, Jordan W; Söderman, Erik; Spencer, Chris C A; Stahl, Eli A; Strengman, Eric; Strohmaier, Jana; Stroup, T Scott; Suvisaari, Jaana; Svrakic, Dragan M; Szatkiewicz, Jin P; Thirumalai, Srinivas; Tooney, Paul A; Veijola, Juha; Visscher, Peter M; Waddington, John; Walsh, Dermot; Webb, Bradley T; Weiser, Mark; Wildenauer, Dieter B; Williams, Nigel M; Williams, Stephanie; Witt, Stephanie H; Wolen, Aaron R; Wormley, Brandon K; Wray, Naomi R; Wu, Jing Qin; Zai, Clement C; Adolfsson, Rolf; Andreassen, Ole A; Blackwood, Douglas H R; Bramon, Elvira; Buxbaum, Joseph D; Cichon, Sven; Collier, David A; Corvin, Aiden; Daly, Mark J; Darvasi, Ariel; Domenici, Enrico; Esko, Tõnu; Gejman, Pablo V; Gill, Michael; Gurling, Hugh; Hultman, Christina M; Iwata, Nakao; Jablensky, Assen V; Jönsson, Erik G; Kendler, Kenneth S; Kirov, George; Knight, Jo; Levinson, Douglas F; Li, Qingqin S; McCarroll, Steven A; McQuillin, Andrew; Moran, Jennifer L; Mowry, Bryan J; Nöthen, Markus M; Ophoff, Roel A; Owen, Michael J; Palotie, Aarno; Pato, Carlos N; Petryshen, Tracey L; Posthuma, Danielle; Rietschel, Marcella; Riley, Brien P; Rujescu, Dan; Sklar, Pamela; St Clair, David; Walters, James T R; Werge, Thomas; Sullivan, Patrick F; O'Donovan, Michael C; Scherer, Stephen W; Neale, Benjamin M; Sebat, Jonathan (2016). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49 (1), 27-35
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 (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.
language:
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identifier: DOI: 10.1038/ng.3725
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titleContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
creatorMarshall, Christian R ; Howrigan, Daniel P ; Merico, Daniele ; Thiruvahindrapuram, Bhooma ; Wu, Wenting ; Greer, Douglas S ; Antaki, Danny ; Shetty, Aniket ; Holmans, Peter A ; Pinto, Dalila ; Gujral, Madhusudan ; Brandler, William M ; Malhotra, Dheeraj ; Wang, Zhouzhi ; Fajarado, Karin V Fuentes ; Maile, Michelle S ; Ripke, Stephan ; Agartz, Ingrid ; Albus, Margot ; Alexander, Madeline ; Amin, Farooq ; Atkins, Joshua ; Bacanu, Silviu A ; Belliveau, Richard A ; Bergen, Sarah E ; Bertalan, Marcelo ; Bevilacqua, Elizabeth ; Bigdeli, Tim B ; Black, Donald W ; Bruggeman, Richard ; Buccola, Nancy G ; Buckner, Randy L ; Bulik-Sullivan, Brendan ; Byerley, William ; Cahn, Wiepke ; Cai, Guiqing ; Cairns, Murray J ; Campion, Dominique ; Cantor, Rita M ; Carr, Vaughan J ; Carrera, Noa ; Catts, Stanley V ; Chambert, Kimberley D ; Cheng, Wei ; Cloninger, C Robert ; Cohen, David ; Cormican, Paul ; Craddock, Nick ; Crespo-Facorro, Benedicto ; Crowley, James J ; Curtis, David ; Davidson, Michael ; Davis, Kenneth L ; Degenhardt, Franziska ; Del Favero, Jurgen ; Delisi, Lynn E ; Dikeos, Dimitris ; Dinan, Timothy ; Djurovic, Srdjan ; Donohoe, Gary ; Drapeau, Elodie ; Duan, Jubao ; Dudbridge, Frank ; Eichhammer, Peter ; Eriksson, Johan ; Escott-Price, Valentina ; Essioux, Laurent ; Fanous, Ayman H ; Farh, Kai-How ; Farrell, Martilias S ; Frank, Josef ; Franke, Lude ; Freedman, Robert ; Freimer, Nelson B ; Friedman, Joseph I ; Forstner, Andreas J ; Fromer, Menachem ; Genovese, Giulio ; Georgieva, Lyudmila ; Gershon, Elliot S ; Giegling, Ina ; Giusti-Rodríguez, Paola ; Godard, Stephanie ; Goldstein, Jacqueline I ; Gratten, Jacob ; De Haan, Lieuwe ; Hamshere, Marian L ; Hansen, Mark ; Hansen, Thomas ; Haroutunian, Vahram ; Hartmann, Annette M ; Henskens, Frans A ; Herms, Stefan ; Hirschhorn, Joel N ; Hoffmann, Per ; Hofman, Andrea ; Huang, Hailiang ; Ikeda, Masashi ; Joa, Inge ; Kähler, Anna K ; Kahn, René S ; Kalaydjieva, Luba ; Karjalainen, Juha ; Kavanagh, David ; Keller, Matthew C ; Kelly, Brian J ; Kennedy, James L ; Kim, Yunjung ; Knowles, James A ; Konte, Bettina ; Laurent, Claudine ; Lee, Phil ; Lee, S Hong ; Legge, Sophie E ; Lerer, Bernard ; Levy, Deborah L ; Liang, Kung-Yee ; Lieberman, Jeffrey ; Lönnqvist, Jouko ; Loughland, Carmel M ; Magnusson, Patrik K E ; Maher, Brion S ; Maier, Wolfgang ; Mallet, Jacques ; Mattheisen, Manuel ; Mattingsdal, Morten ; Mccarley, Robert W ; Mcdonald, Colm ; Mcintosh, Andrew M ; Meier, Sandra ; Meijer, Carin J ; Melle, Ingrid ; Mesholam-Gately, Raquelle I ; Metspalu, Andres ; Michie, Patricia T ; Milani, Lili ; Milanova, Vihra ; Mokrab, Younes ; Morris, Derek W ; Müller-Myhsok, Bertram ; Murphy, Kieran C ; Murray, Robin M ; Myin-Germeys, Inez ; Nenadic, Igor ; Nertney, Deborah A ; Nestadt, Gerald ; Nicodemus, Kristin K ; Nisenbaum, Laura ; Nordin, Annelie ; O'Callaghan, Eadbhard ; O'Dushlaine, Colm ; Oh, Sang-Yun ; Olincy, Ann ; Olsen, Line ; O'Neill, F Anthony ; Van Os, Jim ; Pantelis, Christos ; Papadimitriou, George N ; Parkhomenko, Elena ; Pato, Michele T ; Paunio, Tiina ; Perkins, Diana O ; Pers, Tune H ; Pietiläinen, Olli ; Pimm, Jonathan ; Pocklington, Andrew J ; Powell, John ; Price, Alkes ; Pulver, Ann E ; Purcell, Shaun M ; Quested, Digby ; Rasmussen, Henrik B ; Reichenberg, Abraham ; Reimers, Mark A ; Richards, Alexander L ; Roffman, Joshua L ; Roussos, Panos ; Ruderfer, Douglas M ; Salomaa, Veikko ; Sanders, Alan R ; Savitz, Adam ; Schall, Ulrich ; Schulze, Thomas G ; Schwab, Sibylle G ; Scolnick, Edward M ; Scott, Rodney J ; Seidman, Larry J ; Shi, Jianxin ; Silverman, Jeremy M ; Smoller, Jordan W ; Söderman, Erik ; Spencer, Chris C A ; Stahl, Eli A ; Strengman, Eric ; Strohmaier, Jana ; Stroup, T Scott ; Suvisaari, Jaana ; Svrakic, Dragan M ; Szatkiewicz, Jin P ; Thirumalai, Srinivas ; Tooney, Paul A ; Veijola, Juha ; Visscher, Peter M ; Waddington, John ; Walsh, Dermot ; Webb, Bradley T ; Weiser, Mark ; Wildenauer, Dieter B ; Williams, Nigel M ; Williams, Stephanie ; Witt, Stephanie H ; Wolen, Aaron R ; Wormley, Brandon K ; Wray, Naomi R ; Wu, Jing Qin ; Zai, Clement C ; Adolfsson, Rolf ; Andreassen, Ole A ; Blackwood, Douglas H R ; Bramon, Elvira ; Buxbaum, Joseph D ; Cichon, Sven ; Collier, David A ; Corvin, Aiden ; Daly, Mark J ; Darvasi, Ariel ; Domenici, Enrico ; Esko, Tõnu ; Gejman, Pablo V ; Gill, Michael ; Gurling, Hugh ; Hultman, Christina M ; Iwata, Nakao ; Jablensky, Assen V ; Jönsson, Erik G ; Kendler, Kenneth S ; Kirov, George ; Knight, Jo ; Levinson, Douglas F ; Li, Qingqin S ; Mccarroll, Steven A ; Mcquillin, Andrew ; Moran, Jennifer L ; Mowry, Bryan J ; Nöthen, Markus M ; Ophoff, Roel A ; Owen, Michael J ; Palotie, Aarno ; Pato, Carlos N ; Petryshen, Tracey L
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identifier DOI: 10.1038/ng.3725
subjectGene ; 16p11.2 ; Autism ; Risk ; Cnvs ; Rearrangements ; Duplications ; Phenotypes ; Disorders ; Mutations
descriptionCopy 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.
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creatorcontrib
0Marshall, Christian R
1Howrigan, Daniel P
2Merico, Daniele
3Thiruvahindrapuram, Bhooma
4Wu, Wenting
5Greer, Douglas S
6Antaki, Danny
7Shetty, Aniket
8Holmans, Peter A
9Pinto, Dalila
10Gujral, Madhusudan
11Brandler, William M
12Malhotra, Dheeraj
13Wang, Zhouzhi
14Fajarado, Karin V Fuentes
15Maile, Michelle S
16Ripke, Stephan
17Agartz, Ingrid
18Albus, Margot
19Alexander, Madeline
20Amin, Farooq
21Atkins, Joshua
22Bacanu, Silviu A
23Belliveau, Richard A
24Bergen, Sarah E
25Bertalan, Marcelo
26Bevilacqua, Elizabeth
27Bigdeli, Tim B
28Black, Donald W
29Bruggeman, Richard
30Buccola, Nancy G
31Buckner, Randy L
32Bulik-Sullivan, Brendan
33Byerley, William
34Cahn, Wiepke
35Cai, Guiqing
36Cairns, Murray J
37Campion, Dominique
38Cantor, Rita M
39Carr, Vaughan J
40Carrera, Noa
41Catts, Stanley V
42Chambert, Kimberley D
43Cheng, Wei
44Cloninger, C Robert
45Cohen, David
46Cormican, Paul
47Craddock, Nick
48Crespo-Facorro, Benedicto
49Crowley, James J
50Curtis, David
51Davidson, Michael
52Davis, Kenneth L
53Degenhardt, Franziska
54Del Favero, Jurgen
55Delisi, Lynn E
56Dikeos, Dimitris
57Dinan, Timothy
58Djurovic, Srdjan
59Donohoe, Gary
60Drapeau, Elodie
61Duan, Jubao
62Dudbridge, Frank
63Eichhammer, Peter
64Eriksson, Johan
65Escott-Price, Valentina
66Essioux, Laurent
67Fanous, Ayman H
68Farh, Kai-How
69Farrell, Martilias S
70Frank, Josef
71Franke, Lude
72Freedman, Robert
73Freimer, Nelson B
74Friedman, Joseph I
75Forstner, Andreas J
76Fromer, Menachem
77Genovese, Giulio
78Georgieva, Lyudmila
79Gershon, Elliot S
80Giegling, Ina
81Giusti-Rodríguez, Paola
82Godard, Stephanie
83Goldstein, Jacqueline I
84Gratten, Jacob
85De Haan, Lieuwe
86Hamshere, Marian L
87Hansen, Mark
88Hansen, Thomas
89Haroutunian, Vahram
90Hartmann, Annette M
91Henskens, Frans A
92Herms, Stefan
93Hirschhorn, Joel N
94Hoffmann, Per
95Hofman, Andrea
96Huang, Hailiang
97Ikeda, Masashi
98Joa, Inge
99Kähler, Anna K
100...
titleContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
descriptionCopy 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.
subject
0Gene
116p11.2
2Autism
3Risk
4Cnvs
5Rearrangements
6Duplications
7Phenotypes
8Disorders
9Mutations
general
0Springer Nature
1Marshall, Christian R; Howrigan, Daniel P; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S; Antaki, Danny; Shetty, Aniket; Holmans, Peter A; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M; Malhotra, Dheeraj; Wang, Zhouzhi; Fajarado, Karin V Fuentes; Maile, Michelle S; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A; Belliveau, Richard A; Bergen, Sarah E; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B; Black, Donald W; Bruggeman, Richard; Buccola, Nancy G; Buckner, Randy L; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J; Campion, Dominique; Cantor, Rita M; Carr, Vaughan J; Carrera, Noa; Catts, Stanley V; Chambert, Kimberley D; Cheng, Wei; Cloninger, C Robert; Cohen, David; Cormican, Paul; Craddock, Nick; Crespo-Facorro, Benedicto; Crowley, James J; Curtis, David; Davidson, Michael; Davis, Kenneth L; Degenhardt, Franziska; Del Favero, Jurgen; DeLisi, Lynn E; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H; Farh, Kai-How; Farrell, Martilias S; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B; Friedman, Joseph I; Forstner, Andreas J; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Gershon, Elliot S; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; Gratten, Jacob; de Haan, Lieuwe; Hamshere, Marian L; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M; Henskens, Frans A; Herms, Stefan; Hirschhorn, Joel N; Hoffmann, Per; Hofman, Andrea; Huang, Hailiang; Ikeda, Masashi; Joa, Inge; Kähler, Anna K; Kahn, René S; Kalaydjieva, Luba; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C; Kelly, Brian J; Kennedy, James L; Kim, Yunjung; Knowles, James A; Konte, Bettina; Laurent, Claudine; Lee, Phil; Lee, S Hong; Legge, Sophie E; Lerer, Bernard; Levy, Deborah L; Liang, Kung-Yee; Lieberman, Jeffrey; Lönnqvist, Jouko; Loughland, Carmel M; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Mallet, Jacques; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W; McDonald, Colm; McIntosh, Andrew M; Meier, Sandra; Meijer, Carin J; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W; Müller-Myhsok, Bertram; Murphy, Kieran C; Murray, Robin M; Myin-Germeys, Inez; Nenadic, Igor; Nertney, Deborah A; Nestadt, Gerald; Nicodemus, Kristin K; Nisenbaum, Laura; Nordin, Annelie; O'Callaghan, Eadbhard; O'Dushlaine, Colm; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; O'Neill, F Anthony; Van Os, Jim; Pantelis, Christos; Papadimitriou, George N; Parkhomenko, Elena; Pato, Michele T; Paunio, Tiina; Perkins, Diana O; Pers, Tune H; Pietiläinen, Olli; Pimm, Jonathan; Pocklington, Andrew J; Powell, John; Price, Alkes; Pulver, Ann E; Purcell, Shaun M; Quested, Digby; Rasmussen, Henrik B; Reichenberg, Abraham; Reimers, Mark A; Richards, Alexander L; Roffman, Joshua L; Roussos, Panos; Ruderfer, Douglas M; Salomaa, Veikko; Sanders, Alan R; Savitz, Adam; Schall, Ulrich; Schulze, Thomas G; Schwab, Sibylle G; Scolnick, Edward M; Scott, Rodney J; Seidman, Larry J; Shi, Jianxin; Silverman, Jeremy M; Smoller, Jordan W; Söderman, Erik; Spencer, Chris C A; Stahl, Eli A; Strengman, Eric; Strohmaier, Jana; Stroup, T Scott; Suvisaari, Jaana; Svrakic, Dragan M; Szatkiewicz, Jin P; Thirumalai, Srinivas; Tooney, Paul A; Veijola, Juha; Visscher, Peter M; Waddington, John; Walsh, Dermot; Webb, Bradley T; Weiser, Mark; Wildenauer, Dieter B; Williams, Nigel M; Williams, Stephanie; Witt, Stephanie H; Wolen, Aaron R; Wormley, Brandon K; Wray, Naomi R; Wu, Jing Qin; Zai, Clement C; Adolfsson, Rolf; Andreassen, Ole A; Blackwood, Douglas H R; Bramon, Elvira; Buxbaum, Joseph D; Cichon, Sven; Collier, David A; Corvin, Aiden; Daly, Mark J; Darvasi, Ariel; Domenici, Enrico; Esko, Tõnu; Gejman, Pablo V; Gill, Michael; Gurling, Hugh; Hultman, Christina M; Iwata, Nakao; Jablensky, Assen V; Jönsson, Erik G; Kendler, Kenneth S; Kirov, George; Knight, Jo; Levinson, Douglas F; Li, Qingqin S; McCarroll, Steven A; McQuillin, Andrew; Moran, Jennifer L; Mowry, Bryan J; Nöthen, Markus M; Ophoff, Roel A; Owen, Michael J; Palotie, Aarno; Pato, Carlos N; Petryshen, Tracey L; Posthuma, Danielle; Rietschel, Marcella; Riley, Brien P; Rujescu, Dan; Sklar, Pamela; St Clair, David; Walters, James T R; Werge, Thomas; Sullivan, Patrick F; O'Donovan, Michael C; Scherer, Stephen W; Neale, Benjamin M; Sebat, Jonathan (2016). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49 (1), 27-35
21061-4036,1546-1718
310.1038/ng.3725
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addtitleMarshall, Christian R; Howrigan, Daniel P; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S; Antaki, Danny; Shetty, Aniket; Holmans, Peter A; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M; Malhotra, Dheeraj; Wang, Zhouzhi; Fajarado, Karin V Fuentes; Maile, Michelle S; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A; Belliveau, Richard A; Bergen, Sarah E; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B; Black, Donald W; Bruggeman, Richard; Buccola, Nancy G; Buckner, Randy L; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J; Campion, Dominique; Cantor, Rita M; Carr, Vaughan J; Carrera, Noa; Catts, Stanley V; Chambert, Kimberley D; Cheng, Wei; Cloninger, C Robert; Cohen, David; Cormican, Paul; Craddock, Nick; Crespo-Facorro, Benedicto; Crowley, James J; Curtis, David; Davidson, Michael; Davis, Kenneth L; Degenhardt, Franziska; Del Favero, Jurgen; DeLisi, Lynn E; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H; Farh, Kai-How; Farrell, Martilias S; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B; Friedman, Joseph I; Forstner, Andreas J; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Gershon, Elliot S; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; Gratten, Jacob; de Haan, Lieuwe; Hamshere, Marian L; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M; Henskens, Frans A; Herms, Stefan; Hirschhorn, Joel N; Hoffmann, Per; Hofman, Andrea; Huang, Hailiang; Ikeda, Masashi; Joa, Inge; Kähler, Anna K; Kahn, René S; Kalaydjieva, Luba; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C; Kelly, Brian J; Kennedy, James L; Kim, Yunjung; Knowles, James A; Konte, Bettina; Laurent, Claudine; Lee, Phil; Lee, S Hong; Legge, Sophie E; Lerer, Bernard; Levy, Deborah L; Liang, Kung-Yee; Lieberman, Jeffrey; Lönnqvist, Jouko; Loughland, Carmel M; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Mallet, Jacques; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W; McDonald, Colm; McIntosh, Andrew M; Meier, Sandra; Meijer, Carin J; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W; Müller-Myhsok, Bertram; Murphy, Kieran C; Murray, Robin M; Myin-Germeys, Inez; Nenadic, Igor; Nertney, Deborah A; Nestadt, Gerald; Nicodemus, Kristin K; Nisenbaum, Laura; Nordin, Annelie; O'Callaghan, Eadbhard; O'Dushlaine, Colm; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; O'Neill, F Anthony; Van Os, Jim; Pantelis, Christos; Papadimitriou, George N; Parkhomenko, Elena; Pato, Michele T; Paunio, Tiina; Perkins, Diana O; Pers, Tune H; Pietiläinen, Olli; Pimm, Jonathan; Pocklington, Andrew J; Powell, John; Price, Alkes; Pulver, Ann E; Purcell, Shaun M; Quested, Digby; Rasmussen, Henrik B; Reichenberg, Abraham; Reimers, Mark A; Richards, Alexander L; Roffman, Joshua L; Roussos, Panos; Ruderfer, Douglas M; Salomaa, Veikko; Sanders, Alan R; Savitz, Adam; Schall, Ulrich; Schulze, Thomas G; Schwab, Sibylle G; Scolnick, Edward M; Scott, Rodney J; Seidman, Larry J; Shi, Jianxin; Silverman, Jeremy M; Smoller, Jordan W; Söderman, Erik; Spencer, Chris C A; Stahl, Eli A; Strengman, Eric; Strohmaier, Jana; Stroup, T Scott; Suvisaari, Jaana; Svrakic, Dragan M; Szatkiewicz, Jin P; Thirumalai, Srinivas; Tooney, Paul A; Veijola, Juha; Visscher, Peter M; Waddington, John; Walsh, Dermot; Webb, Bradley T; Weiser, Mark; Wildenauer, Dieter B; Williams, Nigel M; Williams, Stephanie; Witt, Stephanie H; Wolen, Aaron R; Wormley, Brandon K; Wray, Naomi R; Wu, Jing Qin; Zai, Clement C; Adolfsson, Rolf; Andreassen, Ole A; Blackwood, Douglas H R; Bramon, Elvira; Buxbaum, Joseph D; Cichon, Sven; Collier, David A; Corvin, Aiden; Daly, Mark J; Darvasi, Ariel; Domenici, Enrico; Esko, Tõnu; Gejman, Pablo V; Gill, Michael; Gurling, Hugh; Hultman, Christina M; Iwata, Nakao; Jablensky, Assen V; Jönsson, Erik G; Kendler, Kenneth S; Kirov, George; Knight, Jo; Levinson, Douglas F; Li, Qingqin S; McCarroll, Steven A; McQuillin, Andrew; Moran, Jennifer L; Mowry, Bryan J; Nöthen, Markus M; Ophoff, Roel A; Owen, Michael J; Palotie, Aarno; Pato, Carlos N; Petryshen, Tracey L; Posthuma, Danielle; Rietschel, Marcella; Riley, Brien P; Rujescu, Dan; Sklar, Pamela; St Clair, David; Walters, James T R; Werge, Thomas; Sullivan, Patrick F; O'Donovan, Michael C; Scherer, Stephen W; Neale, Benjamin M; Sebat, Jonathan (2016). Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nature Genetics 49 (1), 27-35
searchscopearan
scopearan
lsr30VSR-Enriched:[issue, pqid, eissn, galeid, pages, vol, issn]
sort
titleContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
authorMarshall, Christian R ; Howrigan, Daniel P ; Merico, Daniele ; Thiruvahindrapuram, Bhooma ; Wu, Wenting ; Greer, Douglas S ; Antaki, Danny ; Shetty, Aniket ; Holmans, Peter A ; Pinto, Dalila ; Gujral, Madhusudan ; Brandler, William M ; Malhotra, Dheeraj ; Wang, Zhouzhi ; Fajarado, Karin V Fuentes ; Maile, Michelle S ; Ripke, Stephan ; Agartz, Ingrid ; Albus, Margot ; Alexander, Madeline ; Amin, Farooq ; Atkins, Joshua ; Bacanu, Silviu A ; Belliveau, Richard A ; Bergen, Sarah E ; Bertalan, Marcelo ; Bevilacqua, Elizabeth ; Bigdeli, Tim B ; Black, Donald W ; Bruggeman, Richard ; Buccola, Nancy G ; Buckner, Randy L ; Bulik-Sullivan, Brendan ; Byerley, William ; Cahn, Wiepke ; Cai, Guiqing ; Cairns, Murray J ; Campion, Dominique ; Cantor, Rita M ; Carr, Vaughan J ; Carrera, Noa ; Catts, Stanley V ; Chambert, Kimberley D ; Cheng, Wei ; Cloninger, C Robert ; Cohen, David ; Cormican, Paul ; Craddock, Nick ; Crespo-Facorro, Benedicto ; Crowley, James J ; Curtis, David ; Davidson, Michael ; Davis, Kenneth L ; Degenhardt, Franziska ; Del Favero, Jurgen ; Delisi, Lynn E ; Dikeos, Dimitris ; Dinan, Timothy ; Djurovic, Srdjan ; Donohoe, Gary ; Drapeau, Elodie ; Duan, Jubao ; Dudbridge, Frank ; Eichhammer, Peter ; Eriksson, Johan ; Escott-Price, Valentina ; Essioux, Laurent ; Fanous, Ayman H ; Farh, Kai-How ; Farrell, Martilias S ; Frank, Josef ; Franke, Lude ; Freedman, Robert ; Freimer, Nelson B ; Friedman, Joseph I ; Forstner, Andreas J ; Fromer, Menachem ; Genovese, Giulio ; Georgieva, Lyudmila ; Gershon, Elliot S ; Giegling, Ina ; Giusti-Rodríguez, Paola ; Godard, Stephanie ; Goldstein, Jacqueline I ; Gratten, Jacob ; De Haan, Lieuwe ; Hamshere, Marian L ; Hansen, Mark ; Hansen, Thomas ; Haroutunian, Vahram ; Hartmann, Annette M ; Henskens, Frans A ; Herms, Stefan ; Hirschhorn, Joel N ; Hoffmann, Per ; Hofman, Andrea ; Huang, Hailiang ; Ikeda, Masashi ; Joa, Inge ; Kähler, Anna K ; Kahn, René S ; Kalaydjieva, Luba ; Karjalainen, Juha ; Kavanagh, David ; Keller, Matthew C ; Kelly, Brian J ; Kennedy, James L ; Kim, Yunjung ; Knowles, James A ; Konte, Bettina ; Laurent, Claudine ; Lee, Phil ; Lee, S Hong ; Legge, Sophie E ; Lerer, Bernard ; Levy, Deborah L ; Liang, Kung-Yee ; Lieberman, Jeffrey ; Lönnqvist, Jouko ; Loughland, Carmel M ; Magnusson, Patrik K E ; Maher, Brion S ; Maier, Wolfgang ; Mallet, Jacques ; Mattheisen, Manuel ; Mattingsdal, Morten ; Mccarley, Robert W ; Mcdonald, Colm ; Mcintosh, Andrew M ; Meier, Sandra ; Meijer, Carin J ; Melle, Ingrid ; Mesholam-Gately, Raquelle I ; Metspalu, Andres ; Michie, Patricia T ; Milani, Lili ; Milanova, Vihra ; Mokrab, Younes ; Morris, Derek W ; Müller-Myhsok, Bertram ; Murphy, Kieran C ; Murray, Robin M ; Myin-Germeys, Inez ; Nenadic, Igor ; Nertney, Deborah A ; Nestadt, Gerald ; Nicodemus, Kristin K ; Nisenbaum, Laura ; Nordin, Annelie ; O'Callaghan, Eadbhard ; O'Dushlaine, Colm ; Oh, Sang-Yun ; Olincy, Ann ; Olsen, Line ; O'Neill, F Anthony ; Van Os, Jim ; Pantelis, Christos ; Papadimitriou, George N ; Parkhomenko, Elena ; Pato, Michele T ; Paunio, Tiina ; Perkins, Diana O ; Pers, Tune H ; Pietiläinen, Olli ; Pimm, Jonathan ; Pocklington, Andrew J ; Powell, John ; Price, Alkes ; Pulver, Ann E ; Purcell, Shaun M ; Quested, Digby ; Rasmussen, Henrik B ; Reichenberg, Abraham ; Reimers, Mark A ; Richards, Alexander L ; Roffman, Joshua L ; Roussos, Panos ; Ruderfer, Douglas M ; Salomaa, Veikko ; Sanders, Alan R ; Savitz, Adam ; Schall, Ulrich ; Schulze, Thomas G ; Schwab, Sibylle G ; Scolnick, Edward M ; Scott, Rodney J ; Seidman, Larry J ; Shi, Jianxin ; Silverman, Jeremy M ; Smoller, Jordan W ; Söderman, Erik ; Spencer, Chris C A ; Stahl, Eli A ; Strengman, Eric ; Strohmaier, Jana ; Stroup, T Scott ; Suvisaari, Jaana ; Svrakic, Dragan M ; Szatkiewicz, Jin P ; Thirumalai, Srinivas ; Tooney, Paul A ; Veijola, Juha ; Visscher, Peter M ; Waddington, John ; Walsh, Dermot ; Webb, Bradley T ; Weiser, Mark ; Wildenauer, Dieter B ; Williams, Nigel M ; Williams, Stephanie ; Witt, Stephanie H ; Wolen, Aaron R ; Wormley, Brandon K ; Wray, Naomi R ; Wu, Jing Qin ; Zai, Clement C ; Adolfsson, Rolf ; Andreassen, Ole A ; Blackwood, Douglas H R ; Bramon, Elvira ; Buxbaum, Joseph D ; Cichon, Sven ; Collier, David A ; Corvin, Aiden ; Daly, Mark J ; Darvasi, Ariel ; Domenici, Enrico ; Esko, Tõnu ; Gejman, Pablo V ; Gill, Michael ; Gurling, Hugh ; Hultman, Christina M ; Iwata, Nakao ; Jablensky, Assen V ; Jönsson, Erik G ; Kendler, Kenneth S ; Kirov, George ; Knight, Jo ; Levinson, Douglas F ; Li, Qingqin S ; Mccarroll, Steven A ; Mcquillin, Andrew ; Moran, Jennifer L ; Mowry, Bryan J ; Nöthen, Markus M ; Ophoff, Roel A ; Owen, Michael J ; Palotie, Aarno ; Pato, Carlos N ; Petryshen, Tracey L
creationdate20161121
facets
frbrgroupid7008391771225805843
frbrtype5
newrecords20180925
creationdate2016
topic
0Gene
116p11.2
2Autism
3Risk
4Cnvs
5Rearrangements
6Duplications
7Phenotypes
8Disorders
9Mutations
collectionARAN (National University of Ireland Galway)
prefilterarticles
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1Howrigan, Daniel P
2Merico, Daniele
3Thiruvahindrapuram, Bhooma
4Wu, Wenting
5Greer, Douglas S
6Antaki, Danny
7Shetty, Aniket
8Holmans, Peter A
9Pinto, Dalila
10Gujral, Madhusudan
11Brandler, William M
12Malhotra, Dheeraj
13Wang, Zhouzhi
14Fajarado, Karin V Fuentes
15Maile, Michelle S
16Ripke, Stephan
17Agartz, Ingrid
18Albus, Margot
19Alexander, Madeline
20Amin, Farooq
21Atkins, Joshua
22Bacanu, Silviu A
23Belliveau, Richard A
24Bergen, Sarah E
25Bertalan, Marcelo
26Bevilacqua, Elizabeth
27Bigdeli, Tim B
28Black, Donald W
29Bruggeman, Richard
30Buccola, Nancy G
31Buckner, Randy L
32Bulik-Sullivan, Brendan
33Byerley, William
34Cahn, Wiepke
35Cai, Guiqing
36Cairns, Murray J
37Campion, Dominique
38Cantor, Rita M
39Carr, Vaughan J
40Carrera, Noa
41Catts, Stanley V
42Chambert, Kimberley D
43Cheng, Wei
44Cloninger, C Robert
45Cohen, David
46Cormican, Paul
47Craddock, Nick
48Crespo-Facorro, Benedicto
49Crowley, James J
50Curtis, David
51Davidson, Michael
52Davis, Kenneth L
53Degenhardt, Franziska
54Del Favero, Jurgen
55Delisi, Lynn E
56Dikeos, Dimitris
57Dinan, Timothy
58Djurovic, Srdjan
59Donohoe, Gary
60Drapeau, Elodie
61Duan, Jubao
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63Eichhammer, Peter
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67Fanous, Ayman H
68Farh, Kai-How
69Farrell, Martilias S
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73Freimer, Nelson B
74Friedman, Joseph I
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85De Haan, Lieuwe
86Hamshere, Marian L
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88Hansen, Thomas
89Haroutunian, Vahram
90Hartmann, Annette M
91Henskens, Frans A
92Herms, Stefan
93Hirschhorn, Joel N
94Hoffmann, Per
95Hofman, Andrea
96Huang, Hailiang
97Ikeda, Masashi
98Joa, Inge
99Kähler, Anna K
100...
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36Cairns
37Campion
38Cantor
39Carr
40Carrera
41Catts
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43Cheng
44Cloninger
45Cohen
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47Craddock
48Crespo-Facorro
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52Davis
53Degenhardt
54Del Favero
55DeLisi
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58Djurovic
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61Duan
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64Eriksson
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69Farrell
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0Christian R
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12Dheeraj
13Zhouzhi
14Karin V Fuentes
15Michelle S
16Stephan
17Ingrid
18Margot
19Madeline
20Farooq
21Joshua
22Silviu A
23Richard A
24Sarah E
25Marcelo
26Elizabeth
27Tim B
28Donald W
29Richard
30Nancy G
31Randy L
32Brendan
33William
34Wiepke
35Guiqing
36Murray J
37Dominique
38Rita M
39Vaughan J
40Noa
41Stanley V
42Kimberley D
43Wei
44C Robert
45David
46Paul
47Nick
48Benedicto
49James J
50Michael
51Kenneth L
52Franziska
53Jurgen
54Lynn E
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89Annette M
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91Stefan
92Joel N
93Per
94Andrea
95Hailiang
96Masashi
97Inge
98Anna K
99René S
100...
au
0Marshall, Christian R
1Howrigan, Daniel P
2Merico, Daniele
3Thiruvahindrapuram, Bhooma
4Wu, Wenting
5Greer, Douglas S
6Antaki, Danny
7Shetty, Aniket
8Holmans, Peter A
9Pinto, Dalila
10Gujral, Madhusudan
11Brandler, William M
12Malhotra, Dheeraj
13Wang, Zhouzhi
14Fajarado, Karin V Fuentes
15Maile, Michelle S
16Ripke, Stephan
17Agartz, Ingrid
18Albus, Margot
19Alexander, Madeline
20Amin, Farooq
21Atkins, Joshua
22Bacanu, Silviu A
23Belliveau, Richard A
24Bergen, Sarah E
25Bertalan, Marcelo
26Bevilacqua, Elizabeth
27Bigdeli, Tim B
28Black, Donald W
29Bruggeman, Richard
30Buccola, Nancy G
31Buckner, Randy L
32Bulik-Sullivan, Brendan
33Byerley, William
34Cahn, Wiepke
35Cai, Guiqing
36Cairns, Murray J
37Campion, Dominique
38Cantor, Rita M
39Carr, Vaughan J
40Carrera, Noa
41Catts, Stanley V
42Chambert, Kimberley D
43Cheng, Wei
44Cloninger, C Robert
45Cohen, David
46Cormican, Paul
47Craddock, Nick
48Crespo-Facorro, Benedicto
49Crowley, James J
50Curtis, David
51Davidson, Michael
52Davis, Kenneth L
53Degenhardt, Franziska
54Del Favero, Jurgen
55Delisi, Lynn E
56Dikeos, Dimitris
57Dinan, Timothy
58Djurovic, Srdjan
59Donohoe, Gary
60Drapeau, Elodie
61Duan, Jubao
62Dudbridge, Frank
63Eichhammer, Peter
64Eriksson, Johan
65Escott-Price, Valentina
66Essioux, Laurent
67Fanous, Ayman H
68Farh, Kai-How
69Farrell, Martilias S
70Frank, Josef
71Franke, Lude
72Freedman, Robert
73Freimer, Nelson B
74Friedman, Joseph I
75Forstner, Andreas J
76Fromer, Menachem
77Genovese, Giulio
78Georgieva, Lyudmila
79Gershon, Elliot S
80Giegling, Ina
81Giusti-Rodríguez, Paola
82Godard, Stephanie
83Goldstein, Jacqueline I
84Gratten, Jacob
85De Haan, Lieuwe
86Hamshere, Marian L
87Hansen, Mark
88Hansen, Thomas
89Haroutunian, Vahram
90Hartmann, Annette M
91Henskens, Frans A
92Herms, Stefan
93Hirschhorn, Joel N
94Hoffmann, Per
95Hofman, Andrea
96Huang, Hailiang
97Ikeda, Masashi
98Joa, Inge
99Kähler, Anna K
100...
atitleContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
risdate20161121
genrearticle
ristypeJOUR
abstractCopy 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.
pubSpringer Nature
doi10.1038/ng.3725
urlhttp://hdl.handle.net/10379/12654
formatarticle
issue1
pages27-35
volume49
eissn15461718
issn10614036
oafree_for_read
date2016-11-21