Articles producció científicaMedicina i Cirurgia

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

  • Identification data

    Identifier:  imarina:9258983
    Handle: https://hdl.handle.net/20.500.11797/imarina9258983
    Authors:  Trubetskoy, Vassily; Pardinas, Antonio F; Qi, Ting; Panagiotaropoulou, Georgia; Awasthi, Swapnil; Bigdeli, Tim B; Bryois, Julien; Chen, Chia-Yen; Dennison, Charlotte A; Hall, Lynsey S; Lam, Max; Watanabe, Kyoko; Frei, Oleksandr; Ge, Tian; Harwood, Janet C; Koopmans, Frank; Magnusson, Sigurdur; Richards, Alexander L; Sidorenko, Julia; Wu, Yang; Zeng, Jian; Grove, Jakob; Kim, Minsoo; Li, Zhiqiang; Voloudakis, Georgios; Zhang, Wen; Adams, Mark; Agartz, Ingrid; Atkinson, Elizabeth G; Agerbo, Esben; Al Eissa, Mariam; Albus, Margot; Alexander, Madeline; Alizadeh, Behrooz Z; Alptekin, Koksal; Als, Thomas D; Amin, Farooq; Arolt, Volker; Arrojo, Manuel; Athanasiu, Lavinia; Azevedo, Maria Helena; Bacanu, Silviu A; Bass, Nicholas J; Begemann, Martin; Belliveau, Richard A; Bene, Judit; Benyamin, Beben; Bergen, Sarah E; Blasi, Giuseppe; Bobes, Julio; Bonassi, Stefano; Braun, Alice; Bressan, Rodrigo Affonseca; Bromet, Evelyn J; Bruggeman, Richard; Buckley, Peter F; Buckner, Randy L; Bybjerg-Grauholm, Jonas; Cahn, Wiepke; Cairns, Murray J; Calkins, Monica E; Carr, Vaughan J; Castle, David; Catts, Stanley, V; Chambert, Kimberley D; Chan, Raymond C K; Chaumette, Boris; Cheng, Wei; Cheung, Eric F C; Chong, Siow Ann; Cohen, David; Consoli, Angele; Cordeiro, Quirino; Costas, Javier; Curtis, Charles; Davidson, Michael; Davis, Kenneth L; de Haan, Lieuwe; Degenhardt, Franziska; DeLisi, Lynn E; Demontis, Ditte; Dickerson, Faith; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Duan, Jubao; Ducci, Giuseppe; Dudbridge, Frank; Eriksson, Johan G; Fananas, Lourdes; Faraone, Stephen, V; Fiorentino, Alessia; Forstner, Andreas; Frank, Josef; Freimer, Nelson B; Fromer, Menachem; Frustaci, Alessandra; Gadelha, Ary; Genovese, Giulio; Gershon, Elliot S; Giannitelli, Marianna; Giegling, Ina; Giusti-Rodr
    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.© 2022. The Author(s), under exclusive licence to Springer Nature Limited.

  • Others:

    Link to the original source: https://www.nature.com/articles/s41586-022-04434-5
    APA: Trubetskoy, Vassily; Pardinas, Antonio F; Qi, Ting; Panagiotaropoulou, Georgia; Awasthi, Swapnil; Bigdeli, Tim B; Bryois, Julien; Chen, Chia-Yen; Denn (2022). Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature, 604(7906), 502-+. DOI: 10.1038/s41586-022-04434-5
    Paper original source: Nature. 604 (7906): 502-+
    Article's DOI: 10.1038/s41586-022-04434-5
    Journal publication year: 2022
    Entity: Universitat Rovira i Virgili
    Paper version: info:eu-repo/semantics/submittedVersion
    Record's date: 2025-02-24
    URV's Author/s: Martorell Bonet, Lourdes / Muntané Medina, Gerard / Vilella Cuadrada, Elisabet
    Department: Medicina i Cirurgia
    Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
    Publication Type: Journal Publications
    Author, as appears in the article.: Trubetskoy, Vassily; Pardinas, Antonio F; Qi, Ting; Panagiotaropoulou, Georgia; Awasthi, Swapnil; Bigdeli, Tim B; Bryois, Julien; Chen, Chia-Yen; Dennison, Charlotte A; Hall, Lynsey S; Lam, Max; Watanabe, Kyoko; Frei, Oleksandr; Ge, Tian; Harwood, Janet C; Koopmans, Frank; Magnusson, Sigurdur; Richards, Alexander L; Sidorenko, Julia; Wu, Yang; Zeng, Jian; Grove, Jakob; Kim, Minsoo; Li, Zhiqiang; Voloudakis, Georgios; Zhang, Wen; Adams, Mark; Agartz, Ingrid; Atkinson, Elizabeth G; Agerbo, Esben; Al Eissa, Mariam; Albus, Margot; Alexander, Madeline; Alizadeh, Behrooz Z; Alptekin, Koksal; Als, Thomas D; Amin, Farooq; Arolt, Volker; Arrojo, Manuel; Athanasiu, Lavinia; Azevedo, Maria Helena; Bacanu, Silviu A; Bass, Nicholas J; Begemann, Martin; Belliveau, Richard A; Bene, Judit; Benyamin, Beben; Bergen, Sarah E; Blasi, Giuseppe; Bobes, Julio; Bonassi, Stefano; Braun, Alice; Bressan, Rodrigo Affonseca; Bromet, Evelyn J; Bruggeman, Richard; Buckley, Peter F; Buckner, Randy L; Bybjerg-Grauholm, Jonas; Cahn, Wiepke; Cairns, Murray J; Calkins, Monica E; Carr, Vaughan J; Castle, David; Catts, Stanley, V; Chambert, Kimberley D; Chan, Raymond C K; Chaumette, Boris; Cheng, Wei; Cheung, Eric F C; Chong, Siow Ann; Cohen, David; Consoli, Angele; Cordeiro, Quirino; Costas, Javier; Curtis, Charles; Davidson, Michael; Davis, Kenneth L; de Haan, Lieuwe; Degenhardt, Franziska; DeLisi, Lynn E; Demontis, Ditte; Dickerson, Faith; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Duan, Jubao; Ducci, Giuseppe; Dudbridge, Frank; Eriksson, Johan G; Fananas, Lourdes; Faraone, Stephen, V; Fiorentino, Alessia; Forstner, Andreas; Frank, Josef; Freimer, Nelson B; Fromer, Menachem; Frustaci, Alessandra; Gadelha, Ary; Genovese, Giulio; Gershon, Elliot S; Giannitelli, Marianna; Giegling, Ina; Giusti-Rodriguez, Paola; Godard, Stephanie; Goldstein, Jacqueline, I; Penas, Javier Gonzalez; Gonzalez-Pinto, Ana; Gopal, Srihari; Gratten, Jacob; Green, Michael F; Greenwood, Tiffany A; Guillin, Olivier; Guloksuz, Sinan; Gur, Raquel E; Gur, Ruben C; Gutierrez, Blanca; Hahn, Eric; Hakonarson, Hakon; Haroutunian, Vahram; Hartmann, Annette M; Harvey, Carol; Hayward, Caroline; Henskens, Frans A; Herms, Stefan; Hoffmann, Per; Howrigan, Daniel P; Ikeda, Masashi; Iyegbe, Conrad; Joa, Inge; Julia, Antonio; Kahler, Anna K; Kam-Thong, Tony; Kamatani, Yoichiro; Karachanak-Yankova, Sena; Kebir, Oussama; Keller, Matthew C; Kelly, Brian J; Khrunin, Andrey; Kim, Sung-Wan; Klovins, Janis; Kondratiev, Nikolay; Konte, Bettina; Kraft, Julia; Kubo, Michiaki; Kucinskas, Vaidutis; Kucinskiene, Zita Ausrele; Kusumawardhani, Agung; A-Ptackova, Hana Kuzelov; Landi, Stefano; Lazzeroni, Laura C; Lee, Phil H; Legge, Sophie E; Lehrer, Douglas S; Lencer, Rebecca; Lerer, Bernard; Li, Miaoxin; Lieberman, Jeffrey; Light, Gregory A; Limborska, Svetlana; Liu, Chih-Min; Lonnqvist, Jouko; Loughland, Carmel M; Lubinski, Jan; Luykx, Jurjen J; Lynham, Amy; Macek, Milan, Jr; Mackinnon, Andrew; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Malaspina, Dolores; Mallet, Jacques; Marder, Stephen R; Marsal, Sara; Martin, Alicia R; Martorell, Lourdes; Mattheisen, Manuel; McCarley, Robert W; McDonald, Colm; McGrath, John J; Medeiros, Helena; Meier, Sandra; Melegh, Bela; Melle, Ingrid; Mesholam-Gately, Raquelle, I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mitjans, Marina; Molden, Espen; Molina, Esther; Molto, Maria Dolores; Mondelli, Valeria; Moreno, Carmen; Morley, Christopher P; Muntane, Gerard; Murphy, Kieran C; Myin-Germeys, Inez; Nenadic, Igor; Nestadt, Gerald; Nikitina-Zake, Liene; Noto, Cristiano; Nuechterlein, Keith H; O'Brien, Niamh Louise; O'Neill, F Anthony; Oh, Sang-Yun; Olincy, Ann; Ota, Vanessa Kiyomi; Pantelis, Christos; Papadimitriou, George N; Parellada, Mara; Paunio, Tiina; Pellegrino, Renata; Periyasamy, Sathish; Perkins, Diana O; Pfuhlmann, Bruno; Pietilainen, Olli; Pimm, Jonathan; Porteous, David; Powell, John; Quattrone, Diego; Quested, Digby; Radant, Allen D; Rampino, Antonio; Rapaport, Mark H; Rautanen, Anna; Reichenberg, Abraham; Roe, Cheryl; Roffman, Joshua L; Roth, Julian; Rothermundt, Matthias; Rutten, Bart P F; Saker-Delye, Safaa; Salomaa, Veikko; Sanjuan, Julio; Santoro, Marcos Leite; Savitz, Adam; Schall, Ulrich; Scott, Rodney J; Seidman, Larry J; Sharp, Sally Isabel; Shi, Jianxin; Siever, Larry J; Sigurdsson, Engilbert; Sim, Kang; Skarabis, Nora; Slominsky, Petr; So, Hon-Cheong; Sobell, Janet L; Soderman, Erik; Stain, Helen J; Steen, Nils Eiel; Steixner-Kumar, Agnes A; Stogmann, Elisabeth; Stone, William S; Straub, Richard E; Streit, Fabian; Strengman, Eric; Stroup, T Scott; Subramaniam, Mythily; Sugar, Catherine A; Suvisaari, Jaana; Svrakic, Dragan M; Swerdlow, Neal R; Szatkiewicz, Jin P; Thi Minh Tam Ta; Takahashi, Atsushi; Terao, Chikashi; Thibaut, Florence; Toncheva, Draga; Tooney, Paul A; Torretta, Silvia; Tosato, Sarah; Tura, Gian Battista; Turetsky, Bruce, I; Ucok, Alp; Vaaler, Arne; van Amelsvoort, Therese; van Winkel, Ruud; Veijola, Juha; Waddington, John; Walter, Henrik; Waterreus, Anna; Webb, Bradley T; Weiser, Mark; Williams, Nigel M; Witt, Stephanie H; Wormley, Brandon K; Wu, Jing Qin; Xu, Zhida; Yolken, Robert; Zai, Clement C; Zhou, Wei; Zhu, Feng; Zimprich, Fritz; Ayub, Muhammad; Benner, Christian; Bertolino, Alessandro; Black, Donald W; Bray, Nicholas J; Breen, Gerome; Buccola, Nancy G; Byerley, William F; Chen, Wei J; Cloninger, C Robert; Crespo-Facorro, Benedicto; Donohoe, Gary; Freedman, Robert; Galletly, Cherrie; Gandal, Michael J; Gennarelli, Massimo; Hougaard, David M; Hwu, Hai-Gwo; Jablensky, Assen, V; McCarroll, Steven A; Moran, Jennifer L; Mors, Ole; Mortensen, Preben B; Muller-Myhsok, Bertram; Neil, Amanda L; Nordentoft, Merete; Pato, Michele T; Petryshen, Tracey L; Pirinen, Matti; Pulver, Ann E; Schulze, Thomas G; Silverman, Jeremy M; Smoller, Jordan W; Stahl, Eli A; Tsuang, Debby W; Vilella, Elisabet; Wang, Shi-Heng; Xu, Shuhua; Adolfsson, Rolf; Arango, Celso; Baune, Bernhard T; Belangero, Sintia Iole; Borglum, Anders D; Braff, David; Bramon, Elvira; Buxbaum, Joseph D; Campion, Dominique; Cervilla, Jorge A; Cichon, Sven; Collier, David A; Corvin, Aiden; Curtis, David; Di Forti, Marta; Domenici, Enrico; Ehrenreich, Hannelore; Escott-Price, Valentina; Esko, Tonu; Fanous, Ayman H; Gareeva, Anna; Gawlik, Micha; Gejman, Pablo, V; Gill, Michael; Glatt, Stephen J; Golimbet, Vera; Hong, Kyung Sue; Hultman, Christina M; Hyman, Steven E; Iwata, Nakao; Jonsson, Erik G; Kahn, Rene S; Kennedy, James L; Khusnutdinova, Elza; Kirov, George; Knowles, James A; Krebs, Marie-Odile; Laurent-Levinson, Claudine; Lee, Jimmy; Lencz, Todd; Levinson, Douglas F; Li, Qingqin S; Liu, Jianjun; Malhotra, Anil K; Malhotra, Dheeraj; McIntosh, Andrew; McQuillin, Andrew; Menezes, Paulo R; Morgan, Vera A; Morris, Derek W; Mowry, Bryan J; Murray, Robin M; Nimgaonkar, Vishwajit; Nothen, Markus M; Ophoff, Roel A; Paciga, Sara A; Palotie, Aarno; Pato, Carlos N; Qin, Shengying; Rietschel, Marcella; Riley, Brien P; Rivera, Margarita; Rujescu, Dan; Saka, Meram C; Sanders, Alan R; Schwab, Sibylle G; Serretti, Alessandro; Sham, Pak C; Shi, Yongyong; St Clair, David; Stefansson, Hreinn; Stefansson, Kari; Tsuang, Ming T; van Os, Jim; Vawter, Marquis P; Weinberger, Daniel R; Werge, Thomas; Wildenauer, Dieter B; Yu, Xin; Yue, Weihua; Holmans, Peter A; Pocklington, Andrew J; Roussos, Panos; Vassos, Evangelos; Verhage, Matthijs; Visscher, Peter M; Yang, Jian; Posthuma, Danielle; Andreassen, Ole A; Kendler, Kenneth S; Owen, Michael J; Wray, Naomi R; Daly, Mark J; Huang, Hailiang; Neale, Benjamin M; Sullivan, Patrick F; Ripke, Stephan; Walters, James T R; O'Donovan, Michael C
    Thematic Areas: Zootecnia / recursos pesqueiros, Sociology, Sociología, Social statistics and informatics, Science and technology studies, Saúde coletiva, Química, Psicología, Multidisciplinary sciences, Multidisciplinary, Medicina veterinaria, Medicina iii, Medicina ii, Medicina i, Media studies and communication, Matemática / probabilidade e estatística, Interdisciplinary research in the social sciences, Interdisciplinar, Human geography and urban studies, Geografía, Geociências, General o multidisciplinar, General medicine, Farmacia, Environmental studies, Engenharias iii, Engenharias ii, Engenharias i, Economics, Economia, Demography, Ciencias sociales, Ciencias humanas, Ciências biológicas iii, Ciências biológicas ii, Ciências biológicas i, Ciências ambientais, Ciências agrárias i, Ciência política e relações internacionais, Biotecnología, Biodiversidade, Astronomia / física, Arquitetura e urbanismo, Archaeology, Anthropology
    Author's mail: gerard.muntane@urv.cat, lourdes.martorell@urv.cat, elisabet.vilella@urv.cat

  • Keywords:

    Association
    variants
    statistics
    risk
    profile
    mutations
    integration
    individuals
    disease
    architecture
    Multidisciplinary
    Multidisciplinary Sciences
    Zootecnia / recursos pesqueiros
    Sociology
    Sociología
    Social statistics and informatics
    Science and technology studies
    Saúde coletiva
    Química
    Psicología
    Medicina veterinaria
    Medicina iii
    Medicina ii
    Medicina i
    Media studies and communication
    Matemática / probabilidade e estatística
    Interdisciplinary research in the social sciences
    Interdisciplinar
    Human geography and urban studies
    Geografía
    Geociências
    General o multidisciplinar
    General medicine
    Farmacia
    Environmental studies
    Engenharias iii
    Engenharias ii
    Engenharias i
    Economics
    Economia
    Demography
    Ciencias sociales
    Ciencias humanas
    Ciências biológicas iii
    Ciências biológicas ii
    Ciências biológicas i
    Ciências ambientais
    Ciências agrárias i
    Ciência política e relações internacionais
    Biotecnología
    Biodiversidade
    Astronomia / física
    Arquitetura e urbanismo
    Archaeology
    Anthropology

  • Documents:

    DocumentPrincipal

  • Cerca a google

    Search to google scholar