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@ARTICLE{Trubetskoy:907296,
author = {Trubetskoy, Vassily and Pardiñas, Antonio F. and Qi, Ting
and Panagiotaropoulou, Georgia and Awasthi, Swapnil and
Bigdeli, Tim B. and Bryois, Julien and Chen, Chia-Yen and
Dennison, Charlotte A. and Hall, Lynsey S. and Lam, Max and
Watanabe, Kyoko and Frei, Oleksandr and Ge, Tian and
Harwood, Janet C. and Koopmans, Frank and Magnusson,
Sigurdur and Richards, Alexander L. and Sidorenko, Julia and
Wu, Yang and Zeng, Jian and Grove, Jakob and Kim, Minsoo and
Li, Zhiqiang and Voloudakis, Georgios and Zhang, Wen and
Adams, Mark and Agartz, Ingrid and Atkinson, Elizabeth G.
and Agerbo, Esben and Al Eissa, Mariam and Albus, Margot and
Alexander, Madeline and Alizadeh, Behrooz Z. and Alptekin,
Köksal and Als, Thomas D. and Amin, Farooq and Arolt,
Volker and Arrojo, Manuel and Athanasiu, Lavinia and
Azevedo, Maria Helena and Bacanu, Silviu A. and Bass,
Nicholas J. and Begemann, Martin and Belliveau, Richard A.
and Bene, Judit and Benyamin, Beben and Bergen, Sarah E. and
Blasi, Giuseppe and Bobes, Julio and Bonassi, Stefano and
Braun, Alice and Bressan, Rodrigo Affonseca and Bromet,
Evelyn J. and Bruggeman, Richard and Buckley, Peter F. and
Buckner, Randy L. and Bybjerg-Grauholm, Jonas and Cahn,
Wiepke and Cairns, Murray J. and Calkins, Monica E. and
Carr, Vaughan J. and Castle, David and Catts, Stanley V. and
Chambert, Kimberley D. and Chan, Raymond C. K. and
Chaumette, Boris and Cheng, Wei and Cheung, Eric F. C. and
Chong, Siow Ann and Cohen, David and Consoli, Angèle and
Cordeiro, Quirino and Costas, Javier and Curtis, Charles and
Davidson, Michael and Davis, Kenneth L. and de Haan, Lieuwe
and Degenhardt, Franziska and DeLisi, Lynn E. and Demontis,
Ditte and Dickerson, Faith and Dikeos, Dimitris and Dinan,
Timothy and Djurovic, Srdjan and Duan, Jubao and Ducci,
Giuseppe and Dudbridge, Frank and Eriksson, Johan G. and
Fañanás, Lourdes and Faraone, Stephen V. and Fiorentino,
Alessia and Forstner, Andreas and Frank, Josef and Freimer,
Nelson B. and Fromer, Menachem and Frustaci, Alessandra and
Gadelha, Ary and Genovese, Giulio and Gershon, Elliot S. and
Giannitelli, Marianna and Giegling, Ina and
Giusti-Rodríguez, Paola and Godard, Stephanie and
Goldstein, Jacqueline I. and González Peñas, Javier and
González-Pinto, Ana and Gopal, Srihari and Gratten, Jacob
and Green, Michael F. and Greenwood, Tiffany A. and Guillin,
Olivier and Gülöksüz, Sinan and Gur, Raquel E. and Gur,
Ruben C. and Gutiérrez, Blanca and Hahn, Eric and
Hakonarson, Hakon and Haroutunian, Vahram and Hartmann,
Annette M. and Harvey, Carol and Hayward, Caroline and
Henskens, Frans A. and Herms, Stefan and Hoffmann, Per and
Howrigan, Daniel P. and Ikeda, Masashi and Iyegbe, Conrad
and Joa, Inge and Julià, Antonio and Kähler, Anna K. and
Kam-Thong, Tony and Kamatani, Yoichiro and
Karachanak-Yankova, Sena and Kebir, Oussama and Keller,
Matthew C. and Kelly, Brian J. and Khrunin, Andrey and Kim,
Sung-Wan and Klovins, Janis and Kondratiev, Nikolay and
Konte, Bettina and Kraft, Julia and Kubo, Michiaki and
Kučinskas, Vaidutis and Kučinskiene, Zita Ausrele and
Kusumawardhani, Agung and Kuzelova-Ptackova, Hana and Landi,
Stefano and Lazzeroni, Laura C. and Lee, Phil H. and Legge,
Sophie E. and Lehrer, Douglas S. and Lencer, Rebecca and
Lerer, Bernard and Li, Miaoxin and Lieberman, Jeffrey and
Light, Gregory A. and Limborska, Svetlana and Liu, Chih-Min
and Lönnqvist, Jouko and Loughland, Carmel M. and Lubinski,
Jan and Luykx, Jurjen J. and Lynham, Amy and Macek, Milan
and Mackinnon, Andrew and Magnusson, Patrik K. E. and Maher,
Brion S. and Maier, Wolfgang and Malaspina, Dolores and
Mallet, Jacques and Marder, Stephen R. and Marsal, Sara and
Martin, Alicia R. and Martorell, Lourdes and Mattheisen,
Manuel and McCarley, Robert W. and McDonald, Colm and
McGrath, John J. and Medeiros, Helena and Meier, Sandra and
Melegh, Bela and Melle, Ingrid and Mesholam-Gately, Raquelle
I. and Metspalu, Andres and Michie, Patricia T. and Milani,
Lili and Milanova, Vihra and Mitjans, Marina and Molden,
Espen and Molina, Esther and Molto, María Dolores and
Mondelli, Valeria and Moreno, Carmen and Morley, Christopher
P. and Muntané, Gerard and Murphy, Kieran C. and
Myin-Germeys, Inez and Nenadić, Igor and Nestadt, Gerald
and Nikitina-Zake, Liene and Noto, Cristiano and
Nuechterlein, Keith H. and O’Brien, Niamh Louise and
O’Neill, F. Anthony and Oh, Sang-Yun and Olincy, Ann and
Ota, Vanessa Kiyomi and Pantelis, Christos and
Papadimitriou, George N. and Parellada, Mara and Paunio,
Tiina and Pellegrino, Renata and Periyasamy, Sathish and
Perkins, Diana O. and Pfuhlmann, Bruno and Pietiläinen,
Olli and Pimm, Jonathan and Porteous, David and Powell, John
and Quattrone, Diego and Quested, Digby and Radant, Allen D.
and Rampino, Antonio and Rapaport, Mark H. and Rautanen,
Anna and Reichenberg, Abraham and Roe, Cheryl and Roffman,
Joshua L. and Roth, Julian and Rothermundt, Matthias and
Rutten, Bart P. F. and Saker-Delye, Safaa and Salomaa,
Veikko and Sanjuan, Julio and Santoro, Marcos Leite and
Savitz, Adam and Schall, Ulrich and Scott, Rodney J. and
Seidman, Larry J. and Sharp, Sally Isabel and Shi, Jianxin
and Siever, Larry J. and Sigurdsson, Engilbert and Sim, Kang
and Skarabis, Nora and Slominsky, Petr and So, Hon-Cheong
and Sobell, Janet L. and Söderman, Erik and Stain, Helen J.
and Steen, Nils Eiel and Steixner-Kumar, Agnes A. and
Stögmann, Elisabeth and Stone, William S. and Straub,
Richard E. and Streit, Fabian and Strengman, Eric and
Stroup, T. Scott and Subramaniam, Mythily and Sugar,
Catherine A. and Suvisaari, Jaana and Svrakic, Dragan M. and
Swerdlow, Neal R. and Szatkiewicz, Jin P. and Ta, Thi Minh
Tam and Takahashi, Atsushi and Terao, Chikashi and Thibaut,
Florence and Toncheva, Draga and Tooney, Paul A. and
Torretta, Silvia and Tosato, Sarah and Tura, Gian Battista
and Turetsky, Bruce I. and Üçok, Alp and Vaaler, Arne and
van Amelsvoort, Therese and van Winkel, Ruud and Veijola,
Juha and Waddington, John and Walter, Henrik and Waterreus,
Anna and Webb, Bradley T. and Weiser, Mark and Williams,
Nigel M. and Witt, Stephanie H. and Wormley, Brandon K. and
Wu, Jing Qin and Xu, Zhida and Yolken, Robert and Zai,
Clement C. and Zhou, Wei and Zhu, Feng and Zimprich, Fritz
and Atbaşoğlu, Eşref Cem and Ayub, Muhammad and Benner,
Christian and Bertolino, Alessandro and Black, Donald W. and
Bray, Nicholas J. and Breen, Gerome and Buccola, Nancy G.
and Byerley, William F. and Chen, Wei J. and Cloninger, C.
Robert and Crespo-Facorro, Benedicto and Donohoe, Gary and
Freedman, Robert and Galletly, Cherrie and Gandal, Michael
J. and Gennarelli, Massimo and Hougaard, David M. and Hwu,
Hai-Gwo and Jablensky, Assen V. and McCarroll, Steven A. and
Moran, Jennifer L. and Mors, Ole and Mortensen, Preben B.
and Müller-Myhsok, Bertram and Neil, Amanda L. and
Nordentoft, Merete and Pato, Michele T. and Petryshen,
Tracey L. and Pirinen, Matti and Pulver, Ann E. and Schulze,
Thomas G. and Silverman, Jeremy M. and Smoller, Jordan W.
and Stahl, Eli A. and Tsuang, Debby W. and Vilella, Elisabet
and Wang, Shi-Heng and Xu, Shuhua and Dai, Nan and Wenwen,
Qin and Wildenauer, D. B. and Agiananda, Feranindhya and
Amir, Nurmiati and Antoni, Ronald and Arsianti, Tiana and
Asmarahadi, Asmarahadi and Diatri, H. and Djatmiko, Prianto
and Irmansyah, Irmansyah and Khalimah, Siti and Kusumadewi,
Irmia and Kusumaningrum, Profitasari and Lukman, Petrin R.
and Nasrun, Martina W. and Safyuni, N. S. and Prasetyawan,
Prasetyawan and Semen, G. and Siste, Kristiana and Tobing,
Heriani and Widiasih, Natalia and Wiguna, Tjhin and
Wulandari, D. and Evalina, None and Hananto, A. J. and
Ismoyo, Joni H. and Marini, T. M. and Henuhili, Supiyani and
Reza, Muhammad and Yusnadewi, Suzy and Abyzov, Alexej and
Akbarian, Schahram and Ashley-Koch, Allison and van Bakel,
Harm and Breen, Michael and Brown, Miguel and Bryois, Julien
and Carlyle, Becky and Charney, Alex and Coetzee, Gerard and
Crawford, Gregory and Dracheva, Stella and Emani, Prashant
and Farnham, Peggy and Fromer, Menachem and Galeev, Timur
and Gandal, Mike and Gerstein, Mark and Giase, Gina and
Girdhar, Kiran and Goes, Fernando and Grennan, Kay and Gu,
Mengting and Guerra, Brittney and Gursoy, Gamze and Hoffman,
Gabriel and Hyde, Thomas and Jaffe, Andrew and Jiang, Shan
and Jiang, Yan and Kefi, Amira and Kim, Yunjung and Kitchen,
Robert and Knowles, James A. and Lay, Fides and Lee,
Donghoon and Li, Mingfeng and Liu, Chunyu and Liu, Shuang
and Mattei, Eugenio and Navarro, Fabio and Pan, Xinghua and
Peters, Mette A. and Pinto, Dalila and Pochareddy, Sirisha
and Polioudakis, Damon and Purcaro, Michael and Purcell,
Shaun and Pratt, Henry and Reddy, Tim and Rhie, Suhn and
Roussos, Panagiotis and Rozowsky, Joel and Sanders, Stephan
and Sestan, Nenad and Sethi, Anurag and Shi, Xu and Shieh,
Annie and Swarup, Vivek and Szekely, Anna and Wang, Daifeng
and Warrell, Jonathan and Weissman, Sherman and Weng,
Zhiping and White, Kevin and Wiseman, Jennifer and Witt,
Heather and Won, Hyejung and Wood, Shannon and Wu, Feinan
and Xu, Xuming and Yao, Lijing and Zandi, Peter and Arranz,
Maria J. and Bakker, Steven and Bender, Stephan and Bramon,
Elvira and Collier, David A. and Crepo-Facorro, Benedicto
and Hall, Jeremy and Iyegbe, Conrad and Kahn, René and
Lawrie, Stephen and Lewis, Cathryn and Lin, Kuang and
Linszen, Don H. and Mata, Ignacio and McIntosh, Andrew and
Murray, Robin M. and Ophoff, Roel A. and van Os, Jim and
Powell, John and Rujescu, Dan and Walshe, Muriel and
Weisbrod, Matthias and Achsel, Tilmann and Andres-Alonso,
Maria and Bagni, Claudia and Bayés, Àlex and Biederer,
Thomas and Brose, Nils and Brown, Tyler C. and Chua, John
Jia En and Coba, Marcelo P. and Cornelisse, L. Niels and de
Jong, Arthur P. H. and de Juan-Sanz, Jaime and Dieterich,
Daniela C. and Feng, Guoping and Goldschmidt, Hana L. and
Gundelfinger, Eckart D. and Hoogenraad, Casper and Huganir,
Richard L. and Hyman, Steven E. and Imig, Cordelia and Jahn,
Reinhard and Jung, Hwajin and Kaeser, Pascal S. and Kim,
Eunjoon and Koopmans, Frank and Kreutz, Michael R. and
Lipstein, Noa and MacGillavry, Harold D. and Malenka, Robert
and McPherson, Peter S. and O’Connor, Vincent and Pielot,
Rainer and Ryan, Timothy A. and Sahasrabudhe, Dnyanada and
Sala, Carlo and Sheng, Morgan and Smalla, Karl-Heinz and
Smit, August B. and Südhof, Thomas C. and Thomas, Paul D.
and Toonen, Ruud F. and van Weering, Jan R. T. and Verhage,
Matthijs and Verpelli, Chiara and Adolfsson, Rolf and
Arango, Celso and Baune, Bernhard T. and Belangero, Sintia
Iole and Børglum, Anders D. and Braff, David and Bramon,
Elvira and Buxbaum, Joseph D. and Campion, Dominique and
Cervilla, Jorge A. and Cichon, Sven and Collier, David A.
and Corvin, Aiden and Curtis, David and Forti, Marta Di and
Domenici, Enrico and Ehrenreich, Hannelore and Escott-Price,
Valentina and Esko, Tõnu and Fanous, Ayman H. and Gareeva,
Anna and Gawlik, Micha and Gejman, Pablo V. and Gill,
Michael and Glatt, Stephen J. and Golimbet, Vera and Hong,
Kyung Sue and Hultman, Christina M. and Hyman, Steven E. and
Iwata, Nakao and Jönsson, Erik G. and Kahn, René S. and
Kennedy, James L. and Khusnutdinova, Elza and Kirov, George
and Knowles, James A. and Krebs, Marie-Odile and
Laurent-Levinson, Claudine and Lee, Jimmy and Lencz, Todd
and Levinson, Douglas F. and Li, Qingqin S. and Liu, Jianjun
and Malhotra, Anil K. and Malhotra, Dheeraj and McIntosh,
Andrew and McQuillin, Andrew and Menezes, Paulo R. and
Morgan, Vera A. and Morris, Derek W. and Mowry, Bryan J. and
Murray, Robin M. and Nimgaonkar, Vishwajit and Nöthen,
Markus M. and Ophoff, Roel A. and Paciga, Sara A. and
Palotie, Aarno and Pato, Carlos N. and Qin, Shengying and
Rietschel, Marcella and Riley, Brien P. and Rivera,
Margarita and Rujescu, Dan and Saka, Meram C. and Sanders,
Alan R. and Schwab, Sibylle G. and Serretti, Alessandro and
Sham, Pak C. and Shi, Yongyong and St Clair, David and
Stefánsson, Hreinn and Stefansson, Kari and Tsuang, Ming T.
and van Os, Jim and Vawter, Marquis P. and Weinberger,
Daniel R. and Werge, Thomas and Wildenauer, Dieter B. and
Yu, Xin and Yue, Weihua and Holmans, Peter A. and
Pocklington, Andrew J. and Roussos, Panos and Vassos,
Evangelos and Verhage, Matthijs and Visscher, Peter M. and
Yang, Jian and Posthuma, Danielle and Andreassen, Ole A. and
Kendler, Kenneth S. and Owen, Michael J. and Wray, Naomi R.
and Daly, Mark J. and Huang, Hailiang and Neale, Benjamin M.
and Sullivan, Patrick F. and Ripke, Stephan and Walters,
James T. R. and O’Donovan, Michael C. and de Haan, Lieuwe
and van Amelsvoort, Therese and van Winkel, Ruud and
Gareeva, Anna and Sham, Pak C. and Shi, Yongyong and St
Clair, David and van Os, Jim},
title = {{M}apping genomic loci implicates genes and synaptic
biology in schizophrenia},
journal = {Nature},
volume = {604},
issn = {0028-0836},
address = {London [u.a.]},
publisher = {Nature Publ. Group},
reportid = {FZJ-2022-01947},
pages = {502–508},
year = {2022},
abstract = {Schizophrenia has a heritability of $60–80\%1,$ much of
which is attributable to common risk alleles. Here, in a
two-stage genome-wide association study of up to 76,755
individuals with schizophrenia and 243,649 control
individuals, we report common variant associations at 287
distinct genomic loci. Associations were concentrated in
genes that are expressed in excitatory and inhibitory
neurons of the central nervous system, but not in other
tissues or cell types. Using fine-mapping and functional
genomic data, we identify 120 genes (106 protein-coding)
that are likely to underpin associations at some of these
loci, including 16 genes with credible causal non-synonymous
or untranslated region variation. We also implicate
fundamental processes related to neuronal function,
including synaptic organization, differentiation and
transmission. Fine-mapped candidates were enriched for genes
associated with rare disruptive coding variants in people
with schizophrenia, including the glutamate receptor subunit
GRIN2A and transcription factor SP4, and were also enriched
for genes implicated by such variants in neurodevelopmental
disorders. We identify biological processes relevant to
schizophrenia pathophysiology; show convergence of common
and rare variant associations in schizophrenia and
neurodevelopmental disorders; and provide a resource of
prioritized genes and variants to advance mechanistic
studies.},
cin = {INM-1},
ddc = {500},
cid = {I:(DE-Juel1)INM-1-20090406},
pnm = {5251 - Multilevel Brain Organization and Variability
(POF4-525)},
pid = {G:(DE-HGF)POF4-5251},
typ = {PUB:(DE-HGF)16},
pubmed = {35396580},
UT = {WOS:000779867500004},
doi = {10.1038/s41586-022-04434-5},
url = {https://juser.fz-juelich.de/record/907296},
}
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