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1. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author: Trubetskoy, Vassily, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Braun, Alice, Kraft, Julia, Skarabis, Nora, Walter, Henrik, Ripke, Stephan, Pardiñas, Antonio F., Dennison, Charlotte A., Hall, Lynsey S., Harwood, Janet C., Richards, Alexander L., Legge, Sophie E., Lynham, Amy, Williams, Nigel M., Bray, Nicholas J., Escott-Price, Valentina, Kirov, George, Holmans, Peter A., Pocklington, Andrew J., Owen, Michael J., Walters, James T. R., O’Donovan, Michael C., Qi, Ting, Sidorenko, Julia, Wu, Yang, Zeng, Jian, Gratten, Jacob, Visscher, Peter M., Yang, Jian, Wray, Naomi R., Bigdeli, Tim B., Fanous, Ayman H., Bryois, Julien, Bergen, Sarah E., Kähler, Anna K., Magnusson, Patrik K. E., Hultman, Christina M., Sullivan, Patrick F., Chen, Chia-Yen, Atkinson, Elizabeth G., Goldstein, Jacqueline I., Howrigan, Daniel P., Martin, Alicia R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Ge, Tian, Lam, Max, Belliveau, Richard A., Chambert, Kimberley D., Genovese, Giulio, Lee, Phil H., Pietiläinen, Olli, McCarroll, Steven A., Moran, Jennifer L., Smoller, Jordan W., Brown, Tyler C., Feng, Guoping, Hyman, Steven E., Sheng, Morgan, Chong, Siow Ann, Subramaniam, Mythily, Lencz, Todd, Malhotra, Anil K., Watanabe, Kyoko, Frei, Oleksandr, Agartz, Ingrid, Athanasiu, Lavinia, Melle, Ingrid, Andreassen, Ole A., Steen, Nils Eiel, DeLisi, Lynn E., Mesholam-Gately, Raquelle I., Seidman, Larry J., Koopmans, Frank, Magnusson, Sigurdur, Stefánsson, Hreinn, Stefansson, Kari, Grove, Jakob, Agerbo, Esben, Als, Thomas D., Bybjerg-Grauholm, Jonas, Demontis, Ditte, Hougaard, David M., Mors, Ole, Mortensen, Preben B., Nordentoft, Merete, Børglum, Anders D., Mattheisen, Manuel, Kim, Minsoo, Gandal, Michael J., Li, Zhiqiang, Shi, Yongyong, Zhou, Wei, Qin, Shengying, Voloudakis, Georgios, Zhang, Wen, Roussos, Panos, Adams, Mark, McIntosh, Andrew, Söderman, Erik, Jönsson, Erik G., McGrath, John J., Al Eissa, Mariam, Bass, Nicholas J., Fiorentino, Alessia, O’Brien, Niamh Louise, Pimm, Jonathan, Sharp, Sally Isabel, McQuillin, Andrew, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Bruggeman, Richard, Alptekin, Köksal, Amin, Farooq, Arolt, Volker, Lencer, Rebecca, Rothermundt, Matthias, Baune, Bernhard T., Arrojo, Manuel, Azevedo, Maria Helena, Bacanu, Silviu A., Webb, Bradley T., Wormley, Brandon K., Riley, Brien P., Kendler, Kenneth S., Begemann, Martin, Mitjans, Marina, Steixner-Kumar, Agnes A., Ehrenreich, Hannelore, Bene, Judit, Benyamin, Beben, Blasi, Giuseppe, Rampino, Antonio, Torretta, Silvia, Bertolino, Alessandro, Bobes, Julio, Bonassi, Stefano, Bressan, Rodrigo Affonseca, Gadelha, Ary, Noto, Cristiano, Ota, Vanessa Kiyomi, Santoro, Marcos Leite, Belangero, Sintia Iole, Bromet, Evelyn J., Buckley, Peter F., Buckner, Randy L., Cahn, Wiepke, Kahn, René S., Cairns, Murray J., Scott, Rodney J., Tooney, Paul A., Schall, Ulrich, Calkins, Monica E., Gur, Raquel E., Gur, Ruben C., Turetsky, Bruce I., Carr, Vaughan J., Castle, David, Harvey, Carol, Catts, Stanley V., Chan, Raymond C. K., Chaumette, Boris, Kebir, Oussama, Krebs, Marie-Odile, Cheng, Wei, Cheung, Eric F. C., Cohen, David, Consoli, Angèle, Giannitelli, Marianna, Laurent-Levinson, Claudine, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Quattrone, Diego, Breen, Gerome, Collier, David A., Di Forti, Marta, Vassos, Evangelos, Mondelli, Valeria, van Amelsvoort, Therese, Murray, Robin M., Davidson, Michael, Davis, Kenneth L., Haroutunian, Vahram, Malaspina, Dolores, Reichenberg, Abraham, Siever, Larry J., Silverman, Jeremy M., Buxbaum, Joseph D., de Haan, Lieuwe, Degenhardt, Franziska, Forstner, Andreas, Nöthen, Markus M., Dickerson, Faith, Dikeos, Dimitris, Papadimitriou, George N., Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Gejman, Pablo V., Sanders, Alan R., Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Peñas, Javier González, González-Pinto, Ana, Molto, María Dolores, Moreno, Carmen, Parellada, Mara, Sanjuan, Julio, Crepo-Facorro, Benedicto, Mata, Ignacio, Arango, Celso, Faraone, Stephen V., Frank, Josef, Streit, Fabian, Witt, Stephanie H., Rietschel, Marcella, Freimer, Nelson B., Ophoff, Roel A., Fromer, Menachem, Stahl, Eli A., Frustaci, Alessandra, Gershon, Elliot S., Giegling, Ina, Hartmann, Annette M., Konte, Bettina, Rujescu, Dan, Giusti-Rodríguez, Paola, Szatkiewicz, Jin P., Godard, Stephanie, González Peñas, Javier, Gopal, Srihari, Savitz, Adam, Li, Qingqin S., Green, Michael F., Nuechterlein, Keith H., Sugar, Catherine A., Greenwood, Tiffany A., Light, Gregory A., Swerdlow, Neal R., Braff, David, Guillin, Olivier, Campion, Dominique, Gülöksüz, Sinan, Luykx, Jurjen J., Rutten, Bart P. F., van Winkel, Ruud, Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Pellegrino, Renata, Pantelis, Christos, Hayward, Caroline, Henskens, Frans A., Kelly, Brian J., Herms, Stefan, Hoffmann, Per, Ikeda, Masashi, Iwata, Nakao, Iyegbe, Conrad, van Os, Jim, Joa, Inge, Julià, Antonio, Marsal, Sara, Kam-Thong, Tony, Rautanen, Anna, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Toncheva, Draga, Keller, Matthew C., Khrunin, Andrey, Limborska, Svetlana, Slominsky, Petr, Kim, Sung-Wan, Klovins, Janis, Nikitina-Zake, Liene, Kondratiev, Nikolay, Golimbet, Vera, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Levinson, Douglas F., Petryshen, Tracey L., Lehrer, Douglas S., Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Stroup, T. Scott, Liu, Chih-Min, Hwu, Hai-Gwo, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Bakker, Steven, Kahn, René, Macek, Milan, Mackinnon, Andrew, Maher, Brion S., Maier, Wolfgang, Atbaşoğlu, Eşref Cem, Mallet, Jacques, Marder, Stephen R., Martorell, Lourdes, Muntané, Gerard, Vilella, Elisabet, Meier, Sandra, Schulze, Thomas G., McCarley, Robert W., McDonald, Colm, Donohoe, Gary, Morris, Derek W., Periyasamy, Sathish, Mowry, Bryan J., Medeiros, Helena, Sobell, Janet L., Melegh, Bela, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Michie, Patricia T., Milanova, Vihra, Molden, Espen, Molina, Esther, Morley, Christopher P., Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Pulver, Ann E., O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Freedman, Robert, Paunio, Tiina, Perkins, Diana O., Pfuhlmann, Bruno, Benner, Christian, Pirinen, Matti, Palotie, Aarno, Porteous, David, Powell, John, Quested, Digby, Radant, Allen D., Tsuang, Debby W., Rapaport, Mark H., Roe, Cheryl, Liu, Chunyu, Roffman, Joshua L., Roth, Julian, Gawlik, Micha, Saker-Delye, Safaa, Salomaa, Veikko, Suvisaari, Jaana, Shi, Jianxin, Sigurdsson, Engilbert, Sim, Kang, So, Hon-Cheong, Stain, Helen J., Stögmann, Elisabeth, Zimprich, Fritz, Stone, William S., Straub, Richard E., Hyde, Thomas, Jaffe, Andrew, Weinberger, Daniel R., Strengman, Eric, Svrakic, Dragan M., Cloninger, C. Robert, Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Tosato, Sarah, Tura, Gian Battista, Üçok, Alp, Vaaler, Arne, Veijola, Juha, Waddington, John, Waterreus, Anna, Morgan, Vera A., Jablensky, Assen V., Weiser, Mark, Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Kennedy, James L., Zhu, Feng, Saka, Meram C., Ayub, Muhammad, Black, Donald W., Buccola, Nancy G., Byerley, William F., Chen, Wei J., Crespo-Facorro, Benedicto, Galletly, Cherrie, Gennarelli, Massimo, Müller-Myhsok, Bertram, Neil, Amanda L., Pato, Michele T., Pato, Carlos N., Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Bramon, Elvira, Cervilla, Jorge A., Cichon, Sven, Corvin, Aiden, Gill, Michael, Curtis, David, Domenici, Enrico, Gareeva, Anna, Khusnutdinova, Elza, Glatt, Stephen J., Hong, Kyung Sue, Knowles, James A., Lee, Jimmy, Liu, Jianjun, Malhotra, Dheeraj, Menezes, Paulo R., Nimgaonkar, Vishwajit, Paciga, Sara A., Rivera, Margarita, Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Clair, David St, Tsuang, Ming T., Vawter, Marquis P., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Verhage, Matthijs, Sahasrabudhe, Dnyanada, Toonen, Ruud F., Posthuma, Danielle, Dai, Nan, Wenwen, Qin, Wildenauer, D. B., Agiananda, Feranindhya, Amir, Nurmiati, Antoni, Ronald, Arsianti, Tiana, Asmarahadi, Asmarahadi, Diatri, H., Djatmiko, Prianto, Irmansyah, Irmansyah, Khalimah, Siti, Kusumadewi, Irmia, Kusumaningrum, Profitasari, Lukman, Petrin R., Nasrun, Martina W., Safyuni, N. S., Prasetyawan, Prasetyawan, Semen, G., Siste, Kristiana, Tobing, Heriani, Widiasih, Natalia, Wiguna, Tjhin, Wulandari, D., Evalina, None, Hananto, A. J., Ismoyo, Joni H., Marini, T. M., Henuhili, Supiyani, Reza, Muhammad, Yusnadewi, Suzy, Abyzov, Alexej, Akbarian, Schahram, van Bakel, Harm, Breen, Michael, Charney, Alex, Dracheva, Stella, Girdhar, Kiran, Hoffman, Gabriel, Jiang, Yan, Pinto, Dalila, Purcell, Shaun, Roussos, Panagiotis, Wiseman, Jennifer, Ashley-Koch, Allison, Crawford, Gregory, Reddy, Tim, Brown, Miguel, Grennan, Kay, Carlyle, Becky, Emani, Prashant, Galeev, Timur, Gerstein, Mark, Gu, Mengting, Guerra, Brittney, Gursoy, Gamze, Kitchen, Robert, Lee, Donghoon, Li, Mingfeng, Liu, Shuang, Navarro, Fabio, Pan, Xinghua, Pochareddy, Sirisha, Rozowsky, Joel, Sestan, Nenad, Sethi, Anurag, Shi, Xu, Szekely, Anna, Wang, Daifeng, Warrell, Jonathan, Weissman, Sherman, Wu, Feinan, Xu, Xuming, Coetzee, Gerard, Farnham, Peggy, Lay, Fides, Rhie, Suhn, Witt, Heather, Wood, Shannon, Yao, Lijing, Gandal, Mike, Polioudakis, Damon, Swarup, Vivek, Won, Hyejung, Giase, Gina, Jiang, Shan, Kefi, Amira, Shieh, Annie, Goes, Fernando, Zandi, Peter, Kim, Yunjung, Mattei, Eugenio, Purcaro, Michael, Pratt, Henry, Peters, Mette A., Sanders, Stephan, Weng, Zhiping, White, Kevin, Arranz, Maria J., Lewis, Cathryn, Lin, Kuang, Walshe, Muriel, Bender, Stephan, Weisbrod, Matthias, Hall, Jeremy, Lawrie, Stephen, Linszen, Don H., Achsel, Tilmann, Bagni, Claudia, Andres-Alonso, Maria, Kreutz, Michael R., Bayés, Àlex, Biederer, Thomas, Brose, Nils, Chua, John Jia En, Coba, Marcelo P., Cornelisse, L. Niels, van Weering, Jan R. T., de Jong, Arthur P. H., MacGillavry, Harold D., de Juan-Sanz, Jaime, Dieterich, Daniela C., Pielot, Rainer, Smalla, Karl-Heinz, Gundelfinger, Eckart D., Goldschmidt, Hana L., Huganir, Richard L., Hoogenraad, Casper, Imig, Cordelia, Jahn, Reinhard, Jung, Hwajin, Kim, Eunjoon, Kaeser, Pascal S., Lipstein, Noa, Malenka, Robert, McPherson, Peter S., O’Connor, Vincent, Ryan, Timothy A., Sala, Carlo, Verpelli, Chiara, Smit, August B., Südhof, Thomas C., Thomas, Paul D., Medical Research Council (UK), National Natural Science Foundation of China, Royal Society (UK), Chinese Academy of Sciences, Shanghai Science and Technology Committee, Research Council of Norway, European Commission, Fundação de Amparo à Pesquisa do Estado de São Paulo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Alicia Koplowitz, Fundación Alonso Lozano, Mental Health Research UK, Wellcome Trust, Brain and Behavior Research Foundation, NIHR Biomedical Research Centre (UK), University College London, Generalitat Valenciana, Internal medicine, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Life Course Epidemiology (LCE), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Psychiatry, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R3 - Neuroscience, MUMC+: MA Psychiatrie (3), MUMC+: MA Med Staf Spec Psychiatrie (9), MUMC+: Hersen en Zenuw Centrum (3), Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Benyamin, Beben, O'Donovan, Michael C, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Adult Psychiatry, APH - Mental Health, ANS - Complex Trait Genetics, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, Molecular and Cellular Neurobiology, Functional Genomics, and Complex Trait Genetics
Subjects: Genetics of the nervous system, Schizophrenia/genetics, VARIANTS, PROFILE, Polymorphism, Single Nucleotide, Genome-wide association studies, Article, DISEASE, SDG 3 - Good Health and Well-being, Humans, Genetic Predisposition to Disease, Alleles, Genomics, Genome-Wide Association Study, Schizophrenia, Polymorphism, RISK, ARCHITECTURE, Science & Technology, Multidisciplinary, MUTATIONS, Genetic Predisposition to Disease/genetics, Settore BIO/13, Single Nucleotide, ASSOCIATION, Polymorphism, Single Nucleotide/genetics, STATISTICS, Multidisciplinary Sciences, INDIVIDUALS, Science & Technology - Other Topics, Diseases of the nervous system, ddc:500, Single Nucleotide/genetics, INTEGRATION
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., The work at Cardiff University was additionally supported by Medical Research Council Centre grant no. MR/L010305/1 and program grant no. G0800509. S. Xu also gratefully acknowledges the support of the National Natural Science Foundation of China (NSFC) grants (31525014, 91731303, 31771388, 31961130380 and 32041008), the UK Royal Society-Newton Advanced Fellowship (NAF\R1\191094), the Key Research Program of Frontier Sciences (QYZDJ-SSW-SYS009) and the Strategic Priority Research Program (XDB38000000) of the Chinese Academy of Sciences, and the Shanghai Municipal Science and Technology Major Project (2017SHZDZX01). O. A. Andreassen was supported by the Research Council of Norway (283798, 262656, 248980, 273291, 248828, 248778, 223273); KG Jebsen Stiftelsen, South-East Norway Health Authority, EU H2020 no. 847776. B. Melegh was supported in part by the National Scientific Research Program (NKFIH) K 138669. S. V. Faraone is supported by the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 602805, the European Union’s Horizon 2020 research and innovation programme under grant agreements 667302 and 728018 and NIMH grants 5R01MH101519 and U01 MH109536-01. S. I. Belangero was supported by FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo), grant numbers: 2010/08968-6; 2014/07280-1 2011/50740-5 (including R. A. Bressan). The Singapore team (J. Lee, J. Liu, K. Sim, S. A. Chong and M. Subramanian) acknowledges the National Medical Research Council Translational and Clinical Research Flagship Programme (grant no.: NMRC/TCR/003/2008). M. Macek was supported by LM2018132, CZ.02.1.01/0.0/0.0/18_046/0015515 and IP6003 –VZFNM00064203. C. Arango has been funded by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024), co-financed by ERDF Funds from the European Commission, ‘A way of making Europe’, CIBERSAM, Madrid Regional Government (B2017/BMD-3740 AGES-CM-2), European Union Structural Funds, European Union Seventh Framework Program and European Union H2020 Program under the Innovative Medicines Initiative 2 Joint Undertaking (grant agreement no 115916, project PRISM; and grant agreement no. 777394, project AIMS-2-TRIALS), Fundación Familia Alonso and Fundación Alicia Koplowitz. E. Bramon acknowledges support from the National Institute of Health Research UK (grant NIHR200756); Mental Health Research UK John Grace QC Scholarship 2018; an ESRC collaborative award 2020; BMA Margaret Temple Fellowship 2016; Medical Research Council New Investigator Award (G0901310); MRC Centenary Award (G1100583); MRC project grant G1100583; National Institute of Health Research UK post-doctoral fellowship (PDA/02/06/016); NARSAD Young Investigator awards 2005 and 2008; Wellcome Trust Research Training Fellowship; Wellcome Trust Case Control Consortium awards (085475/B/08/Z, 085475/Z/08/Z); European Commission Horizon 2020 (747429); NIHR Biomedical Research Centre for Mental Health at the South London and Maudsley NHS Foundation Trust and King’s College London; and NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London (UCLH BRC - Mental Health Theme). D. Molto is funded by the European Regional Development Fund (ERDF)–Valencian Community 2014–2020, Spain. E. G. Atkinson was supported by the NIMH K01MH121659.
Published: 2022
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2. A polygenic resilience score moderates the genetic risk for schizophrenia

Author: Hess, Jonathan L, Tylee, Daniel S, Mors, Ole, Duan, Jubao, Dudbridge, Frank, Duncanson, Audrey, Durmishi, Naser, Edkins, Sarah, Ehrenreich, Hannelore, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Esko, Tõnu, Nordentoft, Merete, Essioux, Laurent, Fanous, Ayman H, Farh, Kai-How, Farrell, Martilias S, Frank, Josef, Franke, Lude, Freedman, Robert, Freeman, Colin, Freimer, Nelson B, Friedl, Marion, Hougaard, David M, Friedman, Joseph I, Fromer, Menachem, Gejman, Pablo V, Genovese, Giulio, Georgieva, Lyudmila, Giannoulatou, Eleni, Giegling, Ina, Gill, Michael, Gillman, Matthew, Giusti-Rodríguez, Paola, Byberg-Grauholm, Jonas, Godard, Stephanie, Goldstein, Jacqueline I, Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, Gray, Emma, Gurling, Hugh, Gwilliam, Rhian, de Haan, Lieuwe, Hall, Jeremy, Bækvad-Hansen, Marie, Hammer, Christian, Hammond, Naomi, Hamshere, Marian L, Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M, Hellenthal, Garrett, Henskens, Frans A, Herms, Stefan, Greenwood, Tiffany A, Hirschhorn, Joel N, Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V, Huang, Hailiang, Hultman, Christina M, Hunt, Sarah E, Ikeda, Masashi, Iwata, Nakao, Iyegbe, Conrad, Tsuang, Ming T, Jablensky, Assen V, Jankowski, Janusz, Jayakumar, Alagurevathi, Joa, Inge, Jönsson, Erik G, Julià, Antonio, Kähler, Anna K, Kahn, René S, Kalaydjieva, Luba, Karachanak-Yankova, Sena, Curtis, David, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C, Kendler, Kenneth S, Kennedy, James L, Khrunin, Andrey, Kim, Yunjung, Kirov, George, Klovins, Janis, Knight, Jo, Steinberg, Stacy, Knowles, James A, Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Langford, Cordelia, Laurent, Claudine, Lawrie, Stephen, Lee, S Hong, Lee, Phil, Sigurdsson, Engilbert, Lee, Jimmy, Legge, Sophie E, Lencz, Todd, Lerer, Bernard, Levinson, Douglas F, Lewis, Cathryn M, Li, Tao, Li, Qingqin S, Li, Miaoxin, Liang, Kung-Yee, Mattheisen, Manuel, Stefánsson, Hreinn, Liddle, Jennifer, Lieberman, Jeffrey, Limborska, Svetlana, Lin, Kuang, Linszen, Don H, Liu, Jianjun, Lönnqvist, Jouko, Loughland, Carmel M, Lubinski, Jan, Macek, Milan, Stefánsson, Kári, Magnusson, Patrik K E, Maher, Brion S, Maier, Wolfgang, Malhotra, Anil K, Mallet, Jacques, Markus, Hugh S, Marsal, Sara, Mata, Ignacio, Mathew, Christopher G, Mattingsdal, Morten, Edenberg, Howard J, McCann, Owen T, McCarley, Robert W, McCarroll, Steven A, McCarthy, Mark I, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Meier, Sandra, Meijer, Carin J, Melegh, Bela, Holmans, Peter, Melle, Ingrid, Mesholam-Gately, Raquelle I, Metspalu, Andres, Michie, Patricia T, Milani, Lili, Milanova, Vihra, Mokrab, Younes, Moran, Jennifer L, Morris, Derek W, Mowry, Bryan J, Faraone, Stephen V, Müller-Myhsok, Bertram, Murphy, Kieran C, Murray, Robin M, Myin-Germeys, Inez, Neale, Benjamin M, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A, Nestadt, Gerald, Nicodemus, Kristin K, Glatt, Stephen J, Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, Nöthen, Markus M, O'Callaghan, Eadbhard, O'Donovan, Michael C, O'Dushlaine, Colm, O'Neill, F Anthony, Oh, Sang-Yun, Olincy, Ann, Adolfsson, Rolf, Olsen, Line, Ophoff, Roel A, Van Os, Jim, Owen, Michael J, Palmer, Colin N A, Palotie, Aarno, Pantelis, Christos, Papadimitriou, George N, Papiol, Sergi, Parkhomenko, Elena, Agartz, Ingrid, Pato, Michele T, Pato, Carlos N, Paunio, Tiina, Pearson, Richard, Cairns, Murray J, DeLisi, Lynn E, Gershon, Elliot S, Kelly, Brian J, Lam, Max, Norgren, Nina, Agerbo, Esben, Paciga, Sara A, Tooney, Paul A, Wu, Jing Qin, Pejovic-Milovancevic, Milica, Perkins, Diana O, Pers, Tune H, Petryshen, Tracey L, Pietiläinen, Olli, Pimm, Jonathan, Pirinen, Matti, Albus, Margot, Plomin, Robert, Pocklington, Andrew J, Posthuma, Danielle, Potter, Simon C, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Quested, Digby, Rasmussen, Henrik B, Consortium, Schizophrenia Working Group of the Psychiatric Genomics, Alexander, Madeline, Rautanen, Anna, Ravindrarajah, Radhi, Reichenberg, Abraham, Reimers, Mark A, Richards, Alexander L, Ricketts, Michelle, Rietschel, Marcella, Riley, Brien P, Ripke, Stephan, Roffman, Joshua L, Amin, Farooq, Roussos, Panos, Ruderfer, Douglas M, Rujescu, Dan, Salomaa, Veikko, Sanders, Alan R, Sawcer, Stephen J, Schall, Ulrich, Schubert, Christian R, Schulze, Thomas G, Schwab, Sibylle G, Andreassen, Ole A, Scolnick, Edward M, Scott, Rodney J, Seidman, Larry J, Sham, Pak C, Shi, Jianxin, Silagadze, Teimuraz, Silverman, Jeremy M, Sim, Kang, Sklar, Pamela, Arranz, Maria J, Slominsky, Petr, Smoller, Jordan W, So, Hon-Cheong, Söderman, Erik, Spencer, Chris C A, Clair, David St, Stahl, Eli A, Stogmann, Elisabeth, Strange, Amy, Straub, Richard E, Bacanu, Silviu A, Strengman, Eric, Strohmaier, Jana, Stroup, T Scott, Su, Zhan, Subramaniam, Mythily, Sullivan, Patrick F, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Tashakkori-Ghanbaria, Avazeh, Bakker, Steven, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Trembath, Richard C, Veijola, Juha, Visscher, Peter M, Viswanathan, Ananth C, Vukcevic, Damjan, Waddington, John, Waller, Matthew, Band, Gavin, Walsh, Dermot, Walshe, Muriel, Walters, James T R, Wang, Qiang, Wang, Dai, Webb, Bradley T, Weinberger, Daniel R, Weisbrod, Matthias, Weiser, Mark, Wendland, Jens R, Barroso, Ines, Weston, Paul, Whittaker, Pamela, Widaa, Sara, Wiersma, Durk, Wildenauer, Dieter B, Williams, Stephanie, Williams, Nigel M, Witt, Stephanie H, Wolen, Aaron R, Wong, Emily H M, Begemann, Martin, Wood, Nicholas W, Wormley, Brandon K, Wray, Naomi R, Xi, Hualin Simon, Zai, Clement C, Zheng, Xuebin, Zimprich, Fritz, Bellenguez, Céline, Research, Lundbeck Foundation Initiative for Integrative Psychiatric, Belliveau, Richard A, Bender, Stephan, Bene, Judit, Bergen, Sarah E, Bevilacqua, Elizabeth, Bigdeli, Tim B, Black, Donald W, Blackburn, Hannah, Blackwell, Jenefer M, Blackwood, Douglas H R, Børglum, Anders D, Bramon, Elvira, Brown, Matthew A, Bruggeman, Richard, Buccola, Nancy G, Buckner, Randy L, Bulik-Sullivan, Brendan, Bumpstead, Suzannah J, Buxbaum, Joseph D, Byerley, William, Cahn, Wiepke, Als, Thomas D, Cai, Guiqing, Campion, Dominique, Cantor, Rita M, Carr, Vaughan J, Carrera, Noa, Casas, Juan P, Catts, Stanley V, Chambert, Kimberley D, Chan, Ronald Y L, Chan, Raymond C K, Grove, Jakob, Chen, Eric Y H, Cheng, Wei, Cheung, Eric F C, Chong, Siow Ann, Cichon, Sven, Cloninger, C Robert, Cohen, David, Cohen, Nadine, Collier, David A, Cormican, Paul, Werge, Thomas, Corvin, Aiden, Craddock, Nick, Crespo-Facorro, Benedicto, Crowley, James J, Daly, Mark J, Darvasi, Ariel, Davidson, Michael, Davis, Kenneth L, Degenhardt, Franziska, Del Favero, Jurgen, Mortensen, Preben Bo, Deloukas, Panos, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Domenici, Enrico, Donnelly, Peter, Donohoe, Gary, Drapeau, Elodie, Dronov, Serge, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Adult Psychiatry, ANS - Complex Trait Genetics, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, Hess, Jonathan L, Tylee, Daniel S, Mattheisen, Manuel, Borglum, Anders D, Glatt, Stephen J, Lee, Sand Hong, Schizophrenia Working Group of thePsychiatric Genomics Consortium, Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, and Myin-Germeys, Inez
Subjects: Multifactorial Inheritance, Schizophrenia/genetics, Genome-wide association study, Disease, Medical and Health Sciences, 0302 clinical medicine, Risk Factors, schizophrenia, genetics, risk, 2.1 Biological and endogenous factors, genetics, polygenic score, Aetiology, genome wide association study, risk, Genetics, Psychiatry, 0303 health sciences, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Genetic Predisposition to Disease/genetics, Single Nucleotide, Genomics, Biological Sciences, Serious Mental Illness, Polymorphism, Single Nucleotide/genetics, Penetrance, 3. Good health, Psychiatry and Mental health, Mental Health, Mendelian disease, Erfðarannsóknir, Life Sciences & Biomedicine, Single Nucleotide/genetics, Biochemistry & Molecular Biology, Schizophrenia (object-oriented programming), high risk, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Geðklofi, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Polymorphism, Resilience (network), Molecular Biology, resilience, Multifactorial Inheritance/genetics, Alleles, 030304 developmental biology, Science & Technology, Prevention, Human Genome, Psychology and Cognitive Sciences, Neurosciences, Brain Disorders, Lundbeck Foundation Initiative for Integrative Psychiatric Research, schizophrenia, Good Health and Well Being, Schizophrenia, Neurosciences & Neurology, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Publisher's version (útgefin grein), Based on the discovery by the Resilience Project (Chen R. et al. Nat Biotechnol 34:531–538, 2016) of rare variants that confer resistance to Mendelian disease, and protective alleles for some complex diseases, we posited the existence of genetic variants that promote resilience to highly heritable polygenic disorders1,0 such as schizophrenia. Resilience has been traditionally viewed as a psychological construct, although our use of the term resilience refers to a different construct that directly relates to the Resilience Project, namely: heritable variation that promotes resistance to disease by reducing the penetrance of risk loci, wherein resilience and risk loci operate orthogonal to one another. In this study, we established a procedure to identify unaffected individuals with relatively high polygenic risk for schizophrenia, and contrasted them with risk-matched schizophrenia cases to generate the first known “polygenic resilience score” that represents the additive contributions to SZ resistance by variants that are distinct from risk loci. The resilience score was derived from data compiled by the Psychiatric Genomics Consortium, and replicated in three independent samples. This work establishes a generalizable framework for finding resilience variants for any complex, heritable disorder., SJG is supported by grants from the U.S. National Institutes of Health (5R01MH101519, 5R01AG054002), the Sidney R. Baer, Jr. Foundation, and NARSAD: The Brain & Behavior Research Foundation. SVF is supported by the K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, University of Bergen, Bergen, Norway, the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement number 602805, the European Union’s Horizon 2020 research and innovation programme under grant agreement number 667302 and NIMH grants 5R01MH101519 and U01 MH109536-01. HJE is supported by grants from the U.S. National Institutes of Health (U10 AA008401; U01 MH109532). Statistical analyses were conducted on the Genetic Cluster Computer, which is financially supported by the Netherlands Scientific Organization (NOW; 480-05-003) along with a supplement from the Dutch Brain Foundation and VU University. The Danish iPSYCH (The Lundbeck Foundation Initiative for Integrative Psychiatric Research) and GEMS2 teams acknowledge funding from The Lundbeck Foundation (grant no R102-A9118 and R155-2014-1724), the Stanley Medical Research Institute, an Advanced Grant from the European Research Council (project no: 294838), the Danish Strategic Research Council and grants from Aarhus University to the iSEQ and CIRRAU centers. The Danish National Biobank resource at Statens Serum Institut was supported by the Novo Nordisk Foundation. Computational resources for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility were provided by the iSEQ center, Aarhus University, Denmark (grant to ADB).
Published: 2021
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3. Genome-wide gene expression changes in postpartum depression point towards an altered immune landscape

Author: Mehta, Divya, Grewen, Karen, Pearson, Brenda, Wani, Shivangi, Wallace, Leanne, Henders, Anjali K., Binder, Elisabeth B., Frokjaer, Vibe G., Meltzer-Brody, Samantha, Wray, Naomi R., Stuebe, Alison M., Mehta, Divya, Grewen, Karen, Pearson, Brenda, Wani, Shivangi, Wallace, Leanne, Henders, Anjali K., Binder, Elisabeth B., Frokjaer, Vibe G., Meltzer-Brody, Samantha, Wray, Naomi R., and Stuebe, Alison M.
Abstract: Maternal postpartum depression (PPD) is a significant public health concern due to the severe negative impact on maternal and child health and well-being. In this study, we aimed to identify genes associated with PPD. To do this, we investigated genome-wide gene expression profiles of pregnant women during their third trimester of pregnancy and tested the association of gene expression with perinatal depressive symptoms. A total of 137 women from a cohort from the University of North Carolina, USA were assessed. The main phenotypes analysed were Edinburgh Postnatal Depression Scale (EPDS) scores at 2 months postpartum and PPD (binary yes/no) based on an EPDS cutoff of 10. Illumina NextSeq500/550 transcriptomic sequencing from whole blood was analysed using the edgeR package. We identified 71 genes significantly associated with postpartum depression scores at 2 months, after correction for multiple testing at 5% FDR. These included several interesting candidates including TNFRSF17, previously reported to be significantly upregulated in women with PPD and MMP8, a matrix metalloproteinase gene, associated with depression in a genome-wide association study. Functional annotation of differentially expressed genes revealed an enrichment of immune response-related biological processes. Additional analysis of genes associated with changes in depressive symptoms from recruitment to 2 months postpartum identified 66 genes significant at an FDR of 5%. Of these genes, 33 genes were also associated with depressive symptoms at 2 months postpartum. Comparing the results with previous studies, we observed that 15.4% of genes associated with PPD in this study overlapped with 700 core maternal genes that showed significant gene expression changes across multiple brain regions (P = 7.9e-05) and 29–53% of the genes were also associated with estradiol changes in a pharmacological model of depression (P values range = 1.2e-4–2.1e-14). In conclusion, we identified novel genes and valid
Published: 2021

4. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

Author: Amare, Azmeraw T., Schubert, Klaus Oliver, Hou, Liping, Clark, Scott R., Papiol, Sergi, Cearns, Micah, Heilbronner, Urs, Degenhardt, Franziska, Tekola-Ayele, Fasil, Hsu, Yi Hsiang, Shekhtman, Tatyana, Adli, Mazda, Akula, Nirmala, Akiyama, Kazufumi, Ardau, Raffaella, Arias, Bárbara, Aubry, Jean Michel, Backlund, Lena, Bhattacharjee, Abesh Kumar, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Biernacka, Joanna M., Birner, Armin, Brichant-Petitjean, Clara, Cervantes, Pablo, Chen, Hsi Chung, Chillotti, Caterina, Cichon, Sven, Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Dayer, Alexandre, Del Zompo, Maria, DePaulo, J. Raymond, Étain, Bruno, Jamain, Stephane, Falkai, Peter, Forstner, Andreas J., Frisen, Louise, Frye, Mark A., Fullerton, Janice M., Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hashimoto, Ryota, Hauser, Joanna, Herms, Stefan, Hoffmann, Per, Hofmann, Andrea, Jiménez, Esther, Kahn, Jean Pierre, Kassem, Layla, Kuo, Po Hsiu, Kato, Tadafumi, Kelsoe, John R., Kittel-Schneider, Sarah, Kliwicki, Sebastian, König, Barbara, Kusumi, Ichiro, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Tortorella, Alfonso, Manchia, Mirko, Martinsson, Lina, McCarthy, Michael J., McElroy, Susan L., Colom, Francesc, Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Nöthen, Markus M., Novák, Tomas, O’Donovan, Claire, Ozaki, Norio, Ösby, Urban, Pfennig, Andrea, Potash, James B., Reif, Andreas, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane varregaard, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Hickie, Ian B., Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Dannlowski, Udo, de Geus, E. J.C., Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Martin, Nicholas G., Sullivan, Patrick F., Schofield, Peter R., Wright, Adam, Bauer, Michael, Amare, Azmeraw T., Schubert, Klaus Oliver, Hou, Liping, Clark, Scott R., Papiol, Sergi, Cearns, Micah, Heilbronner, Urs, Degenhardt, Franziska, Tekola-Ayele, Fasil, Hsu, Yi Hsiang, Shekhtman, Tatyana, Adli, Mazda, Akula, Nirmala, Akiyama, Kazufumi, Ardau, Raffaella, Arias, Bárbara, Aubry, Jean Michel, Backlund, Lena, Bhattacharjee, Abesh Kumar, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Biernacka, Joanna M., Birner, Armin, Brichant-Petitjean, Clara, Cervantes, Pablo, Chen, Hsi Chung, Chillotti, Caterina, Cichon, Sven, Cruceanu, Cristiana, Czerski, Piotr M., Dalkner, Nina, Dayer, Alexandre, Del Zompo, Maria, DePaulo, J. Raymond, Étain, Bruno, Jamain, Stephane, Falkai, Peter, Forstner, Andreas J., Frisen, Louise, Frye, Mark A., Fullerton, Janice M., Gard, Sébastien, Garnham, Julie S., Goes, Fernando S., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hashimoto, Ryota, Hauser, Joanna, Herms, Stefan, Hoffmann, Per, Hofmann, Andrea, Jiménez, Esther, Kahn, Jean Pierre, Kassem, Layla, Kuo, Po Hsiu, Kato, Tadafumi, Kelsoe, John R., Kittel-Schneider, Sarah, Kliwicki, Sebastian, König, Barbara, Kusumi, Ichiro, Laje, Gonzalo, Landén, Mikael, Lavebratt, Catharina, Leboyer, Marion, Leckband, Susan G., Tortorella, Alfonso, Manchia, Mirko, Martinsson, Lina, McCarthy, Michael J., McElroy, Susan L., Colom, Francesc, Mitjans, Marina, Mondimore, Francis M., Monteleone, Palmiero, Nievergelt, Caroline M., Nöthen, Markus M., Novák, Tomas, O’Donovan, Claire, Ozaki, Norio, Ösby, Urban, Pfennig, Andrea, Potash, James B., Reif, Andreas, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane varregaard, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Hickie, Ian B., Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Dannlowski, Udo, de Geus, E. J.C., Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Martin, Nicholas G., Sullivan, Patrick F., Schofield, Peter R., Wright, Adam, and Bauer, Michael
Abstract: Lithium is a first-line medication for bipolar disorder (BD), but only one in three patients respond optimally to the drug. Since evidence shows a strong clinical and genetic overlap between depression and bipolar disorder, we investigated whether a polygenic susceptibility to major depression is associated with response to lithium treatment in patients with BD. Weighted polygenic scores (PGSs) were computed for major depression (MD) at different GWAS p value thresholds using genetic data obtained from 2586 bipolar patients who received lithium treatment and took part in the Consortium on Lithium Genetics (ConLi+Gen) study. Summary statistics from genome-wide association studies in MD (135,458 cases and 344,901 controls) from the Psychiatric Genomics Consortium (PGC) were used for PGS weighting. Response to lithium treatment was defined by continuous scores and categorical outcome (responders versus non-responders) using measurements on the Alda scale. Associations between PGSs of MD and lithium treatment response were assessed using a linear and binary logistic regression modeling for the continuous and categorical outcomes, respectively. The analysis was performed for the entire cohort, and for European and Asian sub-samples. The PGSs for MD were significantly associated with lithium treatment response in multi-ethnic, European or Asian populations, at various p value thresholds. Bipolar patients with a low polygenic load for MD were more likely to respond well to lithium, compared to those patients with high polygenic load [lowest vs highest PGS quartiles, multi-ethnic sample: OR = 1.54 (95% CI: 1.18–2.01) and European sample: OR = 1.75 (95% CI: 1.30–2.36)]. While our analysis in the Asian sample found equivalent effect size in the same direction: OR = 1.71 (95% CI: 0.61–4.90), this was not statistically significant. Using PGS decile comparison, we found a similar trend of association between a high genetic loading for MD and lower response to lithi
Published: 2021

5. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank

Author: Coleman, Jonathan R.I., Peyrot, Wouter J., Purves, Kirstin L., Davis, Katrina A.S., Rayner, Christopher, Choi, Shing Wan, Hübel, Christopher, Gaspar, Helena A., Kan, Carol, Van der Auwera, Sandra, Adams, Mark J., Lyall, Donald M., Choi, Karmel W., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni Kim, Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Foo, Jerome C., Forstner, Andreas J., Frank, Josef, Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Howard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andrés G., Umbricht, Daniel, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Vassos, Evangelos, Danese, Andrea, Maughan, Barbara, Hotopf, Matthew, Coleman, Jonathan R.I., Peyrot, Wouter J., Purves, Kirstin L., Davis, Katrina A.S., Rayner, Christopher, Choi, Shing Wan, Hübel, Christopher, Gaspar, Helena A., Kan, Carol, Van der Auwera, Sandra, Adams, Mark J., Lyall, Donald M., Choi, Karmel W., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni Kim, Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Foo, Jerome C., Forstner, Andreas J., Frank, Josef, Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Howard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andrés G., Umbricht, Daniel, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Vassos, Evangelos, Danese, Andrea, Maughan, Barbara, and Hotopf, Matthew
Abstract: Depression is more frequent among individuals exposed to traumatic events. Both trauma exposure and depression are heritable. However, the relationship between these traits, including the role of genetic risk factors, is complex and poorly understood. When modelling trauma exposure as an environmental influence on depression, both gene-environment correlations and gene-environment interactions have been observed. The UK Biobank concurrently assessed Major Depressive Disorder (MDD) and self-reported lifetime exposure to traumatic events in 126,522 genotyped individuals of European ancestry. We contrasted genetic influences on MDD stratified by reported trauma exposure (final sample size range: 24,094–92,957). The SNP-based heritability of MDD with reported trauma exposure (24%) was greater than MDD without reported trauma exposure (12%). Simulations showed that this is not confounded by the strong, positive genetic correlation observed between MDD and reported trauma exposure. We also observed that the genetic correlation between MDD and waist circumference was only significant in individuals reporting trauma exposure (rg = 0.24, p = 1.8 × 10−7 versus rg = −0.05, p = 0.39 in individuals not reporting trauma exposure, difference p = 2.3 × 10−4). Our results suggest that the genetic contribution to MDD is greater when reported trauma is present, and that a complex relationship exists between reported trauma exposure, body composition, and MDD.
Published: 2020

6. Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration

Author: Revez, Joana A., Lin, Tian, Qiao, Zhen, Xue, Angli, Holtz, Yan, Zhu, Zhihong, Zeng, Jian, Wang, Huanwei, Sidorenko, Julia, Kemper, Kathryn E., Vinkhuyzen, Anna A.E., Frater, Julanne, Eyles, Darryl, Burne, Thomas H.J., Mitchell, Brittany, Martin, Nicholas G., Zhu, Gu, Visscher, Peter M., Yang, Jian, Wray, Naomi R., McGrath, John J., Revez, Joana A., Lin, Tian, Qiao, Zhen, Xue, Angli, Holtz, Yan, Zhu, Zhihong, Zeng, Jian, Wang, Huanwei, Sidorenko, Julia, Kemper, Kathryn E., Vinkhuyzen, Anna A.E., Frater, Julanne, Eyles, Darryl, Burne, Thomas H.J., Mitchell, Brittany, Martin, Nicholas G., Zhu, Gu, Visscher, Peter M., Yang, Jian, Wray, Naomi R., and McGrath, John J.
Abstract: Vitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 Europeans we identify 143 independent loci in 112 1-Mb regions, providing insights into the physiology of vitamin D and implicating genes involved in lipid and lipoprotein metabolism, dermal tissue properties, and the sulphonation and glucuronidation of 25OHD. Mendelian randomization models find no robust evidence that 25OHD concentration has causal effects on candidate phenotypes (e.g. BMI, psychiatric disorders), but many phenotypes have (direct or indirect) causal effects on 25OHD concentration, clarifying the epidemiological relationship between 25OHD status and the health outcomes examined in this study.
Published: 2020

7. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Author: Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A.E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A.J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., Wray, Naomi R., Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A.E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A.J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., and Wray, Naomi R.
Abstract: We conducted DNA methylation association analyses using Illumina 450K data from whole blood for an Australian amyotrophic lateral sclerosis (ALS) case–control cohort (782 cases and 613 controls). Analyses used mixed linear models as implemented in the OSCA software. We found a significantly higher proportion of neutrophils in cases compared to controls which replicated in an independent cohort from the Netherlands (1159 cases and 637 controls). The OSCA MOMENT linear mixed model has been shown in simulations to best account for confounders. When combined in a methylation profile score, the 25 most-associated probes identified by MOMENT significantly classified case–control status in the Netherlands sample (area under the curve, AUC = 0.65, CI95% = [0.62–0.68], p = 8.3 × 10−22). The maximum AUC achieved was 0.69 (CI95% = [0.66–0.71], p = 4.3 × 10−34) when cell-type proportion was included in the predictor.
Published: 2020

8. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Author: Neurogenetica, ZL Neuromusculaire Ziekten Medisch, Brain, Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A.E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A.J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., Wray, Naomi R., Neurogenetica, ZL Neuromusculaire Ziekten Medisch, Brain, Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A.E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona A.J., Hop, Paul J., Robinson, Matthew R., Gratten, Jacob, Visscher, Peter M., Hannon, Eilis, Mill, Jonathan, Brown, Matthew A., Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Needham, Merrilee, Veldink, Jan H., Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Yang, Jian, Blair, Ian P., McRae, Allan F., and Wray, Naomi R.
Published: 2020

9. Identification of common genetic risk variants for autism spectrum disorder

Author: Grove, Jakob, Ripke, Stephan, Als, Thomas D., Mattheisen, Manuel, Walters, Raymond K., Won, Hyejung, Pallesen, Jonatan, Agerbo, Esben, Andreassen, Ole A., Anney, Richard, Awashti, Swapnil, Belliveau, Rich, Bettella, Francesco, Buxbaum, Joseph D., Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Christensen, Jane H., Churchhouse, Claire, Dellenvall, Karin, Demontis, Ditte, De Rubeis, Silvia, Devlin, Bernie, Djurovic, Srdjan, Dumont, Ashley L., Goldstein, Jacqueline I., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Hope, Sigrun, Howrigan, Daniel P., Huang, Hailiang, Hultman, Christina M., Klei, Lambertus, Maller, Julian, Martin, Joanna, Martin, Alicia R., Moran, Jennifer L., Nyegaard, Mette, Nærland, Terje, Palmer, Duncan S., Palotie, Aarno, Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, dPoterba, Timothy, Poulsen, Jesper Buchhave, Pourcain, Beate St, Qvist, Per, Rehnström, Karola, Reichenberg, Abraham, Reichert, Jennifer, Robinson, Elise B., Roeder, Kathryn, Roussos, Panos, Saemundsen, Evald, Sandin, Sven, Satterstrom, F. Kyle, Davey Smith, George, Stefansson, Hreinn, Steinberg, Stacy, Stevens, Christine R., Sullivan, Patrick F., Turley, Patrick, Walters, G. Bragi, Xu, Xinyi, Wray, Naomi R., Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Cai, Na, Castelao, Enrique, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Hall, Lynsey S., Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Müller-Myhsok, Bertram, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Wilson, Catherine H., Grove, Jakob, Ripke, Stephan, Als, Thomas D., Mattheisen, Manuel, Walters, Raymond K., Won, Hyejung, Pallesen, Jonatan, Agerbo, Esben, Andreassen, Ole A., Anney, Richard, Awashti, Swapnil, Belliveau, Rich, Bettella, Francesco, Buxbaum, Joseph D., Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Christensen, Jane H., Churchhouse, Claire, Dellenvall, Karin, Demontis, Ditte, De Rubeis, Silvia, Devlin, Bernie, Djurovic, Srdjan, Dumont, Ashley L., Goldstein, Jacqueline I., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Hope, Sigrun, Howrigan, Daniel P., Huang, Hailiang, Hultman, Christina M., Klei, Lambertus, Maller, Julian, Martin, Joanna, Martin, Alicia R., Moran, Jennifer L., Nyegaard, Mette, Nærland, Terje, Palmer, Duncan S., Palotie, Aarno, Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, dPoterba, Timothy, Poulsen, Jesper Buchhave, Pourcain, Beate St, Qvist, Per, Rehnström, Karola, Reichenberg, Abraham, Reichert, Jennifer, Robinson, Elise B., Roeder, Kathryn, Roussos, Panos, Saemundsen, Evald, Sandin, Sven, Satterstrom, F. Kyle, Davey Smith, George, Stefansson, Hreinn, Steinberg, Stacy, Stevens, Christine R., Sullivan, Patrick F., Turley, Patrick, Walters, G. Bragi, Xu, Xinyi, Wray, Naomi R., Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Cai, Na, Castelao, Enrique, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Hall, Lynsey S., Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Müller-Myhsok, Bertram, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, and Wilson, Catherine H.
Abstract: Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.
Published: 2019

10. Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Author: Czamara, Darina, Eraslan, Gökçen, Page, Christian M., Lahti, Jari, Lahti-Pulkkinen, Marius, Hämäläinen, Esa, Kajantie, Eero, Laivuori, Hannele, Villa, Pia M., Reynolds, Rebecca M., Nystad, Wenche, Håberg, Siri E., London, Stephanie J., O’Donnell, Kieran J., Garg, Elika, Meaney, Michael J., Entringer, Sonja, Wadhwa, Pathik D., Buss, Claudia, Jones, Meaghan J., Lin, David T.S., MacIsaac, Julie L., Kobor, Michael S., Koen, Nastassja, Zar, Heather J., Koenen, Karestan C., Dalvie, Shareefa, Stein, Dan J., Kondofersky, Ivan, Müller, Nikola S., Theis, Fabian J., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Räikkönen, Katri, Binder, Elisabeth B., Czamara, Darina, Eraslan, Gökçen, Page, Christian M., Lahti, Jari, Lahti-Pulkkinen, Marius, Hämäläinen, Esa, Kajantie, Eero, Laivuori, Hannele, Villa, Pia M., Reynolds, Rebecca M., Nystad, Wenche, Håberg, Siri E., London, Stephanie J., O’Donnell, Kieran J., Garg, Elika, Meaney, Michael J., Entringer, Sonja, Wadhwa, Pathik D., Buss, Claudia, Jones, Meaghan J., Lin, David T.S., MacIsaac, Julie L., Kobor, Michael S., Koen, Nastassja, Zar, Heather J., Koenen, Karestan C., Dalvie, Shareefa, Stein, Dan J., Kondofersky, Ivan, Müller, Nikola S., Theis, Fabian J., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., O’Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, E. J.C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O’Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Räikkönen, Katri, and Binder, Elisabeth B.
Abstract: Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overall n = 2365). We use Akaike’s information criterion to test which factors best explain variability of methylation in the cohort-specific VMRs: several prenatal environmental factors (E), genotypes in cis (G), or their additive (G + E) or interaction (GxE) effects. Genetic and environmental factors in combination best explain DNAm at the majority of VMRs. The CpGs best explained by either G, G + E or GxE are functionally distinct. The enrichment of genetic variants from GxE models in GWAS for complex disorders supports their importance for disease risk.
Published: 2019

11. Biological insights from 108 schizophrenia-associated genetic loci

Author: Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T. R., Farh, Kai-How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau Jr, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberly D., Chan, Raymond C. K., Chen, Ronald Y. L., Chen, Eric Y. H., Cheng, Wei, Cheung, Eric F. C., Ann Chong, Siow, Robert Cloninger, C., Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giegling, Ina, Giusti-Rodriguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, de Haan, Lieuwe, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Julia, Antonio, Kahn, Rene S., Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Ausrele Kucinskiene, Zita, Kuzelova-Ptackova, Hana, Kahler, Anna K., Laurent, Claudine, Lee Chee Keong, Jimmy, Hong Lee, S., Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Liang, Kung-Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lonnqvist, Jouko, Macek Jr, Milan, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Muller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Van Os, Jim, Endophenotypes International Consortium, Psychosis, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., Pietilainen, 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., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon-Cheong, Spencer, ChrisC. A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Scott Stroup, T., Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Soderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H. M., Wormley, Brandon K., Simon Xi, Hualin, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Wray, Naomi R., Stefansson, Kari, Visscher, Peter M., Trust Case-Control Consortium, Wellcome, Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H. R., Bramon, Elvira, Buxbaum, Joseph D., Borglum, Anders D., Cichon, Sven, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, Esko, Tonu, Gejman, Pablo V., Gill, Michael, Gurling, Hugh, Hultman, Christina M., Iwata, Nakao, Jablensky, Assen V., Jonsson, Erik G., Kendler, Kenneth S., Kirov, George, Knight, Jo, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mortensen, Preben B., Mowry, Bryan J., Nothen, 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, Sham, Pak C., Sklar, Pamela, St Clair, David, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., and Sullivan, Patrick F.
Subjects: Genetic research -- Analysis, Schizophrenia -- Research -- Health aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia., Author(s): Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stephan Ripke [1, 2]; Benjamin M. Neale [1, 2, 3, 4]; Aiden Corvin [5]; James T. R. Walters [6]; Kai-How Farh [...]
Published: 2014
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12. Improving genetic prediction by leveraging genetic correlations among human diseases and traits

Author: Maier, Robert M., Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M., Stahl, Eli A., Ripke, Stephan, Wray, Naomi R., Yang, Jian, Visscher, Peter M., Robinson, Matthew R., Forstner, Andreas J., Mcquillin, Andrew, Trubetskoy, Vassily, Wang, Weiqing, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., De Leeuw, Christiaan A., Whitehead Pavlides, Jennifer M., Olde Loohuis, Loes M., Pers, Tune H., Lee, Phil H., Charney, Alexander W., Dobbyn, Amanda L., Huckins, Laura, Boocock, James, Giambartolomei, Claudia, Roussos, Panos, Mullins, Niamh, Awasthi, Swapnil, Agerbo, Esben, Als, Thomas D., Pedersen, Carsten Bøcker, Grove, Jakob, Kupka, Ralph, Regeer, Eline J., Anjorin, Adebayo, Casas, Miquel, Mahon, Pamela B., Allardyce, Judith, Escott-Price, Valentina, Forty, Liz, Fraser, Christine, Kogevinas, Manolis, Frank, Josef, Streit, Fabian, Strohmaier, Jana, Treutlein, Jens, Witt, Stephanie H., Kennedy, James L., Strauss, John S., Garnham, Julie, O'donovan, Claire, Slaney, Claire, Steinberg, Stacy, Thorgeirsson, Thorgeir E., Hautzinger, Martin, Steffens, Michael, Perlis, Roy H., Sánchez-Mora, Cristina, Hipolito, Maria, Lawson, William B., Nwulia, Evaristus A., Levy, Shawn E., Foroud, Tatiana M., Jamain, Stéphane, Young, Allan H., Mckay, James D., Albani, Diego, Zandi, Peter, Potash, James B., Zhang, Peng, Raymond Depaulo, J., Bergen, Sarah E., Juréus, Anders, Karlsson, Robert, Kandaswamy, Radhika, Mcguffin, Peter, Rivera, Margarita, Lissowska, Jolanta, Cruceanu, Cristiana, Lucae, Susanne, Cervantes, Pablo, Budde, Monika, Gade, Katrin, Heilbronner, Urs, Pedersen, Marianne Giørtz, Morris, Derek W., Weickert, Cynthia Shannon, Weickert, Thomas W., Macintyre, Donald J., Lawrence, Jacob, Elvsåshagen, Torbjørn, Smeland, Olav B., Djurovic, Srdjan, Xi, Simon, Green, Elaine K., Czerski, Piotr M., Hauser, Joanna, Xu, Wei, Vedder, Helmut, Oruc, Lilijana, Spijker, Anne T., Gordon, Scott D., Medland, Sarah E., Curtis, David, Mühleisen, Thomas W., Badner, Judith, Scheftner, William A., Sigurdsson, Engilbert, Schork, Nicholas J., Schatzberg, Alan F., Bækvad-Hansen, Marie, Bybjerg-Grauholm, Jonas, Hansen, Christine Søholm, Knowles, James A., Szelinger, Szabolcs, Montgomery, Grant W., Boks, Marco, Adolfsson, Annelie Nordin, Hoffmann, Per, Bauer, Michael, Pfennig, Andrea, Leber, Markus, Kittel-Schneider, Sarah, Reif, Andreas, Del-Favero, Jurgen, Fischer, Sascha B., Herms, Stefan, Reinbold, Céline S., Degenhardt, Franziska, Koller, Anna C., Maaser, Anna, Ori, Anil, Dale, Anders M., Fan, Chun Chieh, Greenwood, Tiffany A., Nievergelt, Caroline M., Shehktman, Tatyana, Shilling, Paul D., Byerley, William, Bunney, William, Alliey-Rodriguez, Ney, Clarke, Toni Kim, Liu, Chunyu, Coryell, William, Akil, Huda, Burmeister, Margit, Flickinger, Matthew, Li, Jun Z., Mcinnis, Melvin G., Meng, Fan, Thompson, Robert C., Watson, Stanley J., Zollner, Sebastian, Guan, Weihua, Green, Melissa J., Craig, David, Sobell, Janet L., Milani, Lili, Gordon-Smith, Katherine, Knott, Sarah V., Perry, Amy, Parra, José Guzman, Mayoral, Fermin, Rivas, Fabio, Rice, John P., Barchas, Jack D., Børglum, Anders D., Mortensen, Preben Bo, Mors, Ole, Grigoroiu-Serbanescu, Maria, Bellivier, Frank, Etain, Bruno, Leboyer, Marion, Ramos-Quiroga, Josep Antoni, Agartz, Ingrid, Amin, Farooq, Azevedo, Maria H., Bass, Nicholas, Black, Donald W., Blackwood, Douglas H.R., Bruggeman, Richard, Buccola, Nancy G., Choudhury, Khalid, Cloninger, C. Robert, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Datta, Susmita, Donohoe, Gary J., Duan, Jubao, Dudbridge, Frank, Fanous, Ayman, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Gill, Michael, Gurling, Hugh, De Haan, Lieuwe, Hamshere, Marian L., Hartmann, Annette M., Holmans, Peter A., Kahn, René S., Keller, Matthew C., Kenny, Elaine, Kirov, George K., Krabbendam, Lydia, Krasucki, Robert, Lencz, Todd, Levinson, Douglas F., Lieberman, Jeffrey A., Lin, Dan Yu, Linszen, Don H., Magnusson, Patrik K.E., Maier, Wolfgang, Malhotra, Anil K., Mattheisen, Manuel, Mattingsdal, Morten, Mccarroll, Steven A., Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Myin-Germeys, Inez, Neale, Benjamin M., Ophoff, Roel A., Owen, Michael J., Pimm, Jonathan, Purcell, Shaun M., Puri, Vinay, Quested, Digby J., Rossin, Lizzy, Sanders, Alan R., Shi, Jianxin, Sklar, Pamela, St Clair, David, Stroup, T. Scott, Van Os, Jim, Wiersma, Durk, Zammit, Stanley, Maier, Robert M., Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M., Stahl, Eli A., Ripke, Stephan, Wray, Naomi R., Yang, Jian, Visscher, Peter M., Robinson, Matthew R., Forstner, Andreas J., Mcquillin, Andrew, Trubetskoy, Vassily, Wang, Weiqing, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., De Leeuw, Christiaan A., Whitehead Pavlides, Jennifer M., Olde Loohuis, Loes M., Pers, Tune H., Lee, Phil H., Charney, Alexander W., Dobbyn, Amanda L., Huckins, Laura, Boocock, James, Giambartolomei, Claudia, Roussos, Panos, Mullins, Niamh, Awasthi, Swapnil, Agerbo, Esben, Als, Thomas D., Pedersen, Carsten Bøcker, Grove, Jakob, Kupka, Ralph, Regeer, Eline J., Anjorin, Adebayo, Casas, Miquel, Mahon, Pamela B., Allardyce, Judith, Escott-Price, Valentina, Forty, Liz, Fraser, Christine, Kogevinas, Manolis, Frank, Josef, Streit, Fabian, Strohmaier, Jana, Treutlein, Jens, Witt, Stephanie H., Kennedy, James L., Strauss, John S., Garnham, Julie, O'donovan, Claire, Slaney, Claire, Steinberg, Stacy, Thorgeirsson, Thorgeir E., Hautzinger, Martin, Steffens, Michael, Perlis, Roy H., Sánchez-Mora, Cristina, Hipolito, Maria, Lawson, William B., Nwulia, Evaristus A., Levy, Shawn E., Foroud, Tatiana M., Jamain, Stéphane, Young, Allan H., Mckay, James D., Albani, Diego, Zandi, Peter, Potash, James B., Zhang, Peng, Raymond Depaulo, J., Bergen, Sarah E., Juréus, Anders, Karlsson, Robert, Kandaswamy, Radhika, Mcguffin, Peter, Rivera, Margarita, Lissowska, Jolanta, Cruceanu, Cristiana, Lucae, Susanne, Cervantes, Pablo, Budde, Monika, Gade, Katrin, Heilbronner, Urs, Pedersen, Marianne Giørtz, Morris, Derek W., Weickert, Cynthia Shannon, Weickert, Thomas W., Macintyre, Donald J., Lawrence, Jacob, Elvsåshagen, Torbjørn, Smeland, Olav B., Djurovic, Srdjan, Xi, Simon, Green, Elaine K., Czerski, Piotr M., Hauser, Joanna, Xu, Wei, Vedder, Helmut, Oruc, Lilijana, Spijker, Anne T., Gordon, Scott D., Medland, Sarah E., Curtis, David, Mühleisen, Thomas W., Badner, Judith, Scheftner, William A., Sigurdsson, Engilbert, Schork, Nicholas J., Schatzberg, Alan F., Bækvad-Hansen, Marie, Bybjerg-Grauholm, Jonas, Hansen, Christine Søholm, Knowles, James A., Szelinger, Szabolcs, Montgomery, Grant W., Boks, Marco, Adolfsson, Annelie Nordin, Hoffmann, Per, Bauer, Michael, Pfennig, Andrea, Leber, Markus, Kittel-Schneider, Sarah, Reif, Andreas, Del-Favero, Jurgen, Fischer, Sascha B., Herms, Stefan, Reinbold, Céline S., Degenhardt, Franziska, Koller, Anna C., Maaser, Anna, Ori, Anil, Dale, Anders M., Fan, Chun Chieh, Greenwood, Tiffany A., Nievergelt, Caroline M., Shehktman, Tatyana, Shilling, Paul D., Byerley, William, Bunney, William, Alliey-Rodriguez, Ney, Clarke, Toni Kim, Liu, Chunyu, Coryell, William, Akil, Huda, Burmeister, Margit, Flickinger, Matthew, Li, Jun Z., Mcinnis, Melvin G., Meng, Fan, Thompson, Robert C., Watson, Stanley J., Zollner, Sebastian, Guan, Weihua, Green, Melissa J., Craig, David, Sobell, Janet L., Milani, Lili, Gordon-Smith, Katherine, Knott, Sarah V., Perry, Amy, Parra, José Guzman, Mayoral, Fermin, Rivas, Fabio, Rice, John P., Barchas, Jack D., Børglum, Anders D., Mortensen, Preben Bo, Mors, Ole, Grigoroiu-Serbanescu, Maria, Bellivier, Frank, Etain, Bruno, Leboyer, Marion, Ramos-Quiroga, Josep Antoni, Agartz, Ingrid, Amin, Farooq, Azevedo, Maria H., Bass, Nicholas, Black, Donald W., Blackwood, Douglas H.R., Bruggeman, Richard, Buccola, Nancy G., Choudhury, Khalid, Cloninger, C. Robert, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Datta, Susmita, Donohoe, Gary J., Duan, Jubao, Dudbridge, Frank, Fanous, Ayman, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Gill, Michael, Gurling, Hugh, De Haan, Lieuwe, Hamshere, Marian L., Hartmann, Annette M., Holmans, Peter A., Kahn, René S., Keller, Matthew C., Kenny, Elaine, Kirov, George K., Krabbendam, Lydia, Krasucki, Robert, Lencz, Todd, Levinson, Douglas F., Lieberman, Jeffrey A., Lin, Dan Yu, Linszen, Don H., Magnusson, Patrik K.E., Maier, Wolfgang, Malhotra, Anil K., Mattheisen, Manuel, Mattingsdal, Morten, Mccarroll, Steven A., Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Myin-Germeys, Inez, Neale, Benjamin M., Ophoff, Roel A., Owen, Michael J., Pimm, Jonathan, Purcell, Shaun M., Puri, Vinay, Quested, Digby J., Rossin, Lizzy, Sanders, Alan R., Shi, Jianxin, Sklar, Pamela, St Clair, David, Stroup, T. Scott, Van Os, Jim, Wiersma, Durk, and Zammit, Stanley
Published: 2018

13. Age at first birth in women is genetically associated with increased risk of schizophrenia

Author: Ni, Guiyan, Gratten, Jacob, Wray, Naomi R., Lee, Sang Hong, Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T.R., Farh, Kai How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberly D., Chan, Raymond C.K., Chen, Ronald Y.L., Chen, Eric Y.H., Cheng, Wei, Cheung, Eric F.C., Chong, Siow Ann, Cloninger, C. Robert, Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Haan, Lieuwe De, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Juliá, Antonio, Kahn, René S., Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Kähler, Anna K., Laurent, Claudine, Keong, Jimmy Lee Chee, Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Li, Tao, Liang, Kung Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lönnqvist, Jouko, Macek, Milan, Magnusson, Patrik K.E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Müller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, O'callaghan, Eadbhard, O'dushlaine, Colm, O'neill, F. Anthony, Oh, Sang Yun, Olincy, Ann, Olsen, Line, Os, Jim Van, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., 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., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon Cheong, Spencer, Chris C.A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Stroup, T. Scott, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Söderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H.M., Wormley, Brandon K., Xi, Hualin Simon, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Stefansson, Kari, Visscher, Peter M., Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H.R., Bramon, Elvira, Buxbaum, Joseph D., Børglum, Anders D., Cichon, Sven, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, 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, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mortensen, Preben B., 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, Sham, Pak C., Sklar, Pamela, Clair, David St, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., Sullivan, Patrick F., O'donovan, Michael C., Ni, Guiyan, Gratten, Jacob, Wray, Naomi R., Lee, Sang Hong, Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T.R., Farh, Kai How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberly D., Chan, Raymond C.K., Chen, Ronald Y.L., Chen, Eric Y.H., Cheng, Wei, Cheung, Eric F.C., Chong, Siow Ann, Cloninger, C. Robert, Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Haan, Lieuwe De, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Juliá, Antonio, Kahn, René S., Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Kähler, Anna K., Laurent, Claudine, Keong, Jimmy Lee Chee, Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Li, Tao, Liang, Kung Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lönnqvist, Jouko, Macek, Milan, Magnusson, Patrik K.E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Müller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, O'callaghan, Eadbhard, O'dushlaine, Colm, O'neill, F. Anthony, Oh, Sang Yun, Olincy, Ann, Olsen, Line, Os, Jim Van, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., 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., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon Cheong, Spencer, Chris C.A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Stroup, T. Scott, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Söderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H.M., Wormley, Brandon K., Xi, Hualin Simon, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Stefansson, Kari, Visscher, Peter M., Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H.R., Bramon, Elvira, Buxbaum, Joseph D., Børglum, Anders D., Cichon, Sven, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, 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, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mortensen, Preben B., 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, Sham, Pak C., Sklar, Pamela, Clair, David St, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., Sullivan, Patrick F., and O'donovan, Michael C.
Published: 2018

14. Project MinE : study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Author: Project Mine Als Sequencing Consortium, Mine Als Sequencing Consortium, Pulit, Sara L., Dekker, Annelot M., Al Khleifat, Ahmad, Brands, William J., Iacoangeli, Alfredo, Kenna, Kevin P., Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L., Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D., Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H.P., van der Spek, Rick A.A., van Doormaal, Perry T.C., van Eijk, Kristel R., van Vugt, Joke, Basak, A. Nazli, Blair, Ian P., Glass, Jonathan D., Hardiman, Orla, Hide, Winston, Landers, John E., Mora, Jesus S., Morrison, Karen E., Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E., Shaw, Pamela J., van Damme, Philip, van Es, Michael A., Wray, Naomi R., Al-Chalabi, Ammar, van Den Berg, Leonard H., Veldink, Jan H., Project Mine Als Sequencing Consortium, Mine Als Sequencing Consortium, Pulit, Sara L., Dekker, Annelot M., Al Khleifat, Ahmad, Brands, William J., Iacoangeli, Alfredo, Kenna, Kevin P., Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L., Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D., Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H.P., van der Spek, Rick A.A., van Doormaal, Perry T.C., van Eijk, Kristel R., van Vugt, Joke, Basak, A. Nazli, Blair, Ian P., Glass, Jonathan D., Hardiman, Orla, Hide, Winston, Landers, John E., Mora, Jesus S., Morrison, Karen E., Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E., Shaw, Pamela J., van Damme, Philip, van Es, Michael A., Wray, Naomi R., Al-Chalabi, Ammar, van Den Berg, Leonard H., and Veldink, Jan H.
Published: 2018

15. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Author: de Jong, Simone, Abdalla Diniz, Mateus Jose, Saloma, Andiara, Gadelha, Ary, Santoro, Marcos L., Ota, Vanessa K., Noto, Cristiano, Curtis, Charlesg, Newhouse, Stephen J., Patel, Hamel, Hall, Lynsey S., O'Reilly, Paul F., Belangero, Sintia, I, Bressan, Rodrigo A., Breen, Gerome, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R., I, Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, V, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, Mcgrath, Patrick, Mcguffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shyn, Stanley, I, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, I, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Borglum, Anders D., Sullivan, Patrick F., Meier, Sandra, Strauss, John, Xu, Wei, Vincent, John B., Matthews, Keith, Ferreira, Manuel, O'Dushlaine, Colm, Purcell, Shaun, Raychaudhuri, Soumya, Ruderfer, Douglas M., Sklar, Pamela, Scott, Laura J., Flickinger, Matthew, Burmeister, Margit, Li, Jun, Guan, Weihua, Absher, Devin, Thompson, Robert C., Meng, Fan Guo, Schatzberg, Alan F., Bunney, William E., Barchas, Jack D., Watson, Stanley J., Myers, Richard M., Akil, Huda, Boehnke, Michael, Chambert, Kimberly, Moran, Jennifer, Scolnick, Edward, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Corvin, Aiden, Anjorin, Adebayo, Kandaswamy, Radhika, Lawrence, Jacob, McLean, Alan W., Pickard, Benjamin S., Bergen, Sarah E., Nimgaonkar, Vishwajit, Landen, Mikael, Schalling, Martin, Osby, Urban, Backlund, Lena, Frisen, Louise, Langstrom, Niklas, Stahl, Eli, Dobbyn, Amanda, Jamain, Stephane, Etain, Bruno, Bellivier, Frank, Leber, Markus, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Kittel-Schneider, Sarah, Fullerton, Janice M., Oruc, Lilijana, Para, Jose G., Mayoral, Fermin, Rivas, Fabio, Czerski, Piotr M., Kammerer-Ciernioch, Jutta, Vedder, Helmut, Borrmann-Hassenbach, Margitta, Pfennig, Andrea, Brennan, Paul, McKay, James D., Kogevinas, Manolis, Schwarz, Markus, Schofield, Peter R., Muehleisen, Thomas W., Schumacher, Johannes, Bauer, Michael, Wright, Adam, Mitchell, Philip B., Hautzinger, Martin, Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., Shilling, Paul D., Smith, Erin N., Bloss, Cinnamon S., Edenberg, Howard J., Koller, Daniel L., Gershon, Elliot S., Liu, Chunyu, Badner, Judith A., Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Lohoff, Falk W., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zollner, Sebastian, Zhang, Peng, Szelinger, Szabolcs, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Kirov, George, Nikolov, Ivan, Collier, David A., Elkin, Amanda, Williamson, Richard, Young, Allan H., Ferrier, I. Nicol, Milanova, Vihra, Alda, Martin, Cervantes, Pablo, Cruceanu, Cristiana, Rouleau, Guy A., Turecki, Gustavo, Paciga, Sara, Winslow, Ashley R., Grigoroiu-Serbanescu, Maria, Ophoff, Roel, Adolfsson, Rolf, Adolfsson, Annelie Nordin, Del-Favero, Jurgen, Pato, Carlos, Biernacka, Joanna M., Frye, Mark A., Morris, Derek, Schork, Nicholas J., Reif, Andreas, Lissowska, Jolanta, Hauser, Joanna, Szeszenia-Dabrowska, Neonila, McGhee, Kevin, Quinn, Emma, Moskvina, Valentina, Holmans, Peter A., Farmer, Anne, Kennedy, James L., Andreassen, Ole A., Mattingsdal, Morten, Bass, Nicholas J., Gurling, Hugh, McQuillin, Andrew, Breuer, Rene, Hultman, Christina, Lichtenstein, Paul, Huckins, Laura M., Leboyer, Marion, Lathrop, Mark, Nurnberger, John, Steffens, Michael, Foroud, Tatiana M., Berrettini, Wade H., Craig, David W., Shi, Jianxin, de Jong, Simone, Abdalla Diniz, Mateus Jose, Saloma, Andiara, Gadelha, Ary, Santoro, Marcos L., Ota, Vanessa K., Noto, Cristiano, Curtis, Charlesg, Newhouse, Stephen J., Patel, Hamel, Hall, Lynsey S., O'Reilly, Paul F., Belangero, Sintia, I, Bressan, Rodrigo A., Breen, Gerome, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R., I, Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, V, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, Mcgrath, Patrick, Mcguffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shyn, Stanley, I, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, I, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Borglum, Anders D., Sullivan, Patrick F., Meier, Sandra, Strauss, John, Xu, Wei, Vincent, John B., Matthews, Keith, Ferreira, Manuel, O'Dushlaine, Colm, Purcell, Shaun, Raychaudhuri, Soumya, Ruderfer, Douglas M., Sklar, Pamela, Scott, Laura J., Flickinger, Matthew, Burmeister, Margit, Li, Jun, Guan, Weihua, Absher, Devin, Thompson, Robert C., Meng, Fan Guo, Schatzberg, Alan F., Bunney, William E., Barchas, Jack D., Watson, Stanley J., Myers, Richard M., Akil, Huda, Boehnke, Michael, Chambert, Kimberly, Moran, Jennifer, Scolnick, Edward, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Corvin, Aiden, Anjorin, Adebayo, Kandaswamy, Radhika, Lawrence, Jacob, McLean, Alan W., Pickard, Benjamin S., Bergen, Sarah E., Nimgaonkar, Vishwajit, Landen, Mikael, Schalling, Martin, Osby, Urban, Backlund, Lena, Frisen, Louise, Langstrom, Niklas, Stahl, Eli, Dobbyn, Amanda, Jamain, Stephane, Etain, Bruno, Bellivier, Frank, Leber, Markus, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Kittel-Schneider, Sarah, Fullerton, Janice M., Oruc, Lilijana, Para, Jose G., Mayoral, Fermin, Rivas, Fabio, Czerski, Piotr M., Kammerer-Ciernioch, Jutta, Vedder, Helmut, Borrmann-Hassenbach, Margitta, Pfennig, Andrea, Brennan, Paul, McKay, James D., Kogevinas, Manolis, Schwarz, Markus, Schofield, Peter R., Muehleisen, Thomas W., Schumacher, Johannes, Bauer, Michael, Wright, Adam, Mitchell, Philip B., Hautzinger, Martin, Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., Shilling, Paul D., Smith, Erin N., Bloss, Cinnamon S., Edenberg, Howard J., Koller, Daniel L., Gershon, Elliot S., Liu, Chunyu, Badner, Judith A., Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Lohoff, Falk W., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zollner, Sebastian, Zhang, Peng, Szelinger, Szabolcs, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Kirov, George, Nikolov, Ivan, Collier, David A., Elkin, Amanda, Williamson, Richard, Young, Allan H., Ferrier, I. Nicol, Milanova, Vihra, Alda, Martin, Cervantes, Pablo, Cruceanu, Cristiana, Rouleau, Guy A., Turecki, Gustavo, Paciga, Sara, Winslow, Ashley R., Grigoroiu-Serbanescu, Maria, Ophoff, Roel, Adolfsson, Rolf, Adolfsson, Annelie Nordin, Del-Favero, Jurgen, Pato, Carlos, Biernacka, Joanna M., Frye, Mark A., Morris, Derek, Schork, Nicholas J., Reif, Andreas, Lissowska, Jolanta, Hauser, Joanna, Szeszenia-Dabrowska, Neonila, McGhee, Kevin, Quinn, Emma, Moskvina, Valentina, Holmans, Peter A., Farmer, Anne, Kennedy, James L., Andreassen, Ole A., Mattingsdal, Morten, Bass, Nicholas J., Gurling, Hugh, McQuillin, Andrew, Breuer, Rene, Hultman, Christina, Lichtenstein, Paul, Huckins, Laura M., Leboyer, Marion, Lathrop, Mark, Nurnberger, John, Steffens, Michael, Foroud, Tatiana M., Berrettini, Wade H., Craig, David W., and Shi, Jianxin
Abstract: Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n similar to 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
Published: 2018

16. Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Author: CMM Groep De Ridder, Circulatory Health, Opleiding Neurologie, Neurogenetica, Projectafdeling ALS, Brain, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Project Mine Als Sequencing Consortium, Mine Als Sequencing Consortium, Pulit, Sara L., Dekker, Annelot M., Al Khleifat, Ahmad, Brands, William J., Iacoangeli, Alfredo, Kenna, Kevin P., Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L., Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D., Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H.P., van der Spek, Rick A.A., van Doormaal, Perry T.C., van Eijk, Kristel R., van Vugt, Joke, Basak, A. Nazli, Blair, Ian P., Glass, Jonathan D., Hardiman, Orla, Hide, Winston, Landers, John E., Mora, Jesus S., Morrison, Karen E., Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E., Shaw, Pamela J., van Damme, Philip, van Es, Michael A., Wray, Naomi R., Al-Chalabi, Ammar, van Den Berg, Leonard H., Veldink, Jan H., CMM Groep De Ridder, Circulatory Health, Opleiding Neurologie, Neurogenetica, Projectafdeling ALS, Brain, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Project Mine Als Sequencing Consortium, Mine Als Sequencing Consortium, Pulit, Sara L., Dekker, Annelot M., Al Khleifat, Ahmad, Brands, William J., Iacoangeli, Alfredo, Kenna, Kevin P., Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L., Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D., Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H.P., van der Spek, Rick A.A., van Doormaal, Perry T.C., van Eijk, Kristel R., van Vugt, Joke, Basak, A. Nazli, Blair, Ian P., Glass, Jonathan D., Hardiman, Orla, Hide, Winston, Landers, John E., Mora, Jesus S., Morrison, Karen E., Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E., Shaw, Pamela J., van Damme, Philip, van Es, Michael A., Wray, Naomi R., Al-Chalabi, Ammar, van Den Berg, Leonard H., and Veldink, Jan H.
Published: 2018

17. Improving genetic prediction by leveraging genetic correlations among human diseases and traits

Author: Onderzoeksgroep 2, Brain, Onderzoeksgroep 11, Hersenen-Bedrijfsvoering, Maier, Robert M., Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M., Stahl, Eli A., Ripke, Stephan, Wray, Naomi R., Yang, Jian, Visscher, Peter M., Robinson, Matthew R., Forstner, Andreas J., Mcquillin, Andrew, Trubetskoy, Vassily, Wang, Weiqing, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., De Leeuw, Christiaan A., Whitehead Pavlides, Jennifer M., Olde Loohuis, Loes M., Pers, Tune H., Lee, Phil H., Charney, Alexander W., Dobbyn, Amanda L., Huckins, Laura, Boocock, James, Giambartolomei, Claudia, Roussos, Panos, Mullins, Niamh, Awasthi, Swapnil, Agerbo, Esben, Als, Thomas D., Pedersen, Carsten Bøcker, Grove, Jakob, Kupka, Ralph, Regeer, Eline J., Anjorin, Adebayo, Casas, Miquel, Mahon, Pamela B., Allardyce, Judith, Escott-Price, Valentina, Forty, Liz, Fraser, Christine, Kogevinas, Manolis, Frank, Josef, Streit, Fabian, Strohmaier, Jana, Treutlein, Jens, Witt, Stephanie H., Kennedy, James L., Strauss, John S., Garnham, Julie, O'donovan, Claire, Slaney, Claire, Steinberg, Stacy, Thorgeirsson, Thorgeir E., Hautzinger, Martin, Steffens, Michael, Perlis, Roy H., Sánchez-Mora, Cristina, Hipolito, Maria, Lawson, William B., Nwulia, Evaristus A., Levy, Shawn E., Foroud, Tatiana M., Jamain, Stéphane, Young, Allan H., Mckay, James D., Albani, Diego, Zandi, Peter, Potash, James B., Zhang, Peng, Raymond Depaulo, J., Bergen, Sarah E., Juréus, Anders, Karlsson, Robert, Kandaswamy, Radhika, Mcguffin, Peter, Rivera, Margarita, Lissowska, Jolanta, Cruceanu, Cristiana, Lucae, Susanne, Cervantes, Pablo, Budde, Monika, Gade, Katrin, Heilbronner, Urs, Pedersen, Marianne Giørtz, Morris, Derek W., Weickert, Cynthia Shannon, Weickert, Thomas W., Macintyre, Donald J., Lawrence, Jacob, Elvsåshagen, Torbjørn, Smeland, Olav B., Djurovic, Srdjan, Xi, Simon, Green, Elaine K., Czerski, Piotr M., Hauser, Joanna, Xu, Wei, Vedder, Helmut, Oruc, Lilijana, Spijker, Anne T., Gordon, Scott D., Medland, Sarah E., Curtis, David, Mühleisen, Thomas W., Badner, Judith, Scheftner, William A., Sigurdsson, Engilbert, Schork, Nicholas J., Schatzberg, Alan F., Bækvad-Hansen, Marie, Bybjerg-Grauholm, Jonas, Hansen, Christine Søholm, Knowles, James A., Szelinger, Szabolcs, Montgomery, Grant W., Boks, Marco, Adolfsson, Annelie Nordin, Hoffmann, Per, Bauer, Michael, Pfennig, Andrea, Leber, Markus, Kittel-Schneider, Sarah, Reif, Andreas, Del-Favero, Jurgen, Fischer, Sascha B., Herms, Stefan, Reinbold, Céline S., Degenhardt, Franziska, Koller, Anna C., Maaser, Anna, Ori, Anil, Dale, Anders M., Fan, Chun Chieh, Greenwood, Tiffany A., Nievergelt, Caroline M., Shehktman, Tatyana, Shilling, Paul D., Byerley, William, Bunney, William, Alliey-Rodriguez, Ney, Clarke, Toni Kim, Liu, Chunyu, Coryell, William, Akil, Huda, Burmeister, Margit, Flickinger, Matthew, Li, Jun Z., Mcinnis, Melvin G., Meng, Fan, Thompson, Robert C., Watson, Stanley J., Zollner, Sebastian, Guan, Weihua, Green, Melissa J., Craig, David, Sobell, Janet L., Milani, Lili, Gordon-Smith, Katherine, Knott, Sarah V., Perry, Amy, Parra, José Guzman, Mayoral, Fermin, Rivas, Fabio, Rice, John P., Barchas, Jack D., Børglum, Anders D., Mortensen, Preben Bo, Mors, Ole, Grigoroiu-Serbanescu, Maria, Bellivier, Frank, Etain, Bruno, Leboyer, Marion, Ramos-Quiroga, Josep Antoni, Agartz, Ingrid, Amin, Farooq, Azevedo, Maria H., Bass, Nicholas, Black, Donald W., Blackwood, Douglas H.R., Bruggeman, Richard, Buccola, Nancy G., Choudhury, Khalid, Cloninger, C. Robert, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Datta, Susmita, Donohoe, Gary J., Duan, Jubao, Dudbridge, Frank, Fanous, Ayman, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Gill, Michael, Gurling, Hugh, De Haan, Lieuwe, Hamshere, Marian L., Hartmann, Annette M., Holmans, Peter A., Kahn, René S., Keller, Matthew C., Kenny, Elaine, Kirov, George K., Krabbendam, Lydia, Krasucki, Robert, Lencz, Todd, Levinson, Douglas F., Lieberman, Jeffrey A., Lin, Dan Yu, Linszen, Don H., Magnusson, Patrik K.E., Maier, Wolfgang, Malhotra, Anil K., Mattheisen, Manuel, Mattingsdal, Morten, Mccarroll, Steven A., Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Myin-Germeys, Inez, Neale, Benjamin M., Ophoff, Roel A., Owen, Michael J., Pimm, Jonathan, Purcell, Shaun M., Puri, Vinay, Quested, Digby J., Rossin, Lizzy, Sanders, Alan R., Shi, Jianxin, Sklar, Pamela, St Clair, David, Stroup, T. Scott, Van Os, Jim, Wiersma, Durk, Zammit, Stanley, Onderzoeksgroep 2, Brain, Onderzoeksgroep 11, Hersenen-Bedrijfsvoering, Maier, Robert M., Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M., Stahl, Eli A., Ripke, Stephan, Wray, Naomi R., Yang, Jian, Visscher, Peter M., Robinson, Matthew R., Forstner, Andreas J., Mcquillin, Andrew, Trubetskoy, Vassily, Wang, Weiqing, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., De Leeuw, Christiaan A., Whitehead Pavlides, Jennifer M., Olde Loohuis, Loes M., Pers, Tune H., Lee, Phil H., Charney, Alexander W., Dobbyn, Amanda L., Huckins, Laura, Boocock, James, Giambartolomei, Claudia, Roussos, Panos, Mullins, Niamh, Awasthi, Swapnil, Agerbo, Esben, Als, Thomas D., Pedersen, Carsten Bøcker, Grove, Jakob, Kupka, Ralph, Regeer, Eline J., Anjorin, Adebayo, Casas, Miquel, Mahon, Pamela B., Allardyce, Judith, Escott-Price, Valentina, Forty, Liz, Fraser, Christine, Kogevinas, Manolis, Frank, Josef, Streit, Fabian, Strohmaier, Jana, Treutlein, Jens, Witt, Stephanie H., Kennedy, James L., Strauss, John S., Garnham, Julie, O'donovan, Claire, Slaney, Claire, Steinberg, Stacy, Thorgeirsson, Thorgeir E., Hautzinger, Martin, Steffens, Michael, Perlis, Roy H., Sánchez-Mora, Cristina, Hipolito, Maria, Lawson, William B., Nwulia, Evaristus A., Levy, Shawn E., Foroud, Tatiana M., Jamain, Stéphane, Young, Allan H., Mckay, James D., Albani, Diego, Zandi, Peter, Potash, James B., Zhang, Peng, Raymond Depaulo, J., Bergen, Sarah E., Juréus, Anders, Karlsson, Robert, Kandaswamy, Radhika, Mcguffin, Peter, Rivera, Margarita, Lissowska, Jolanta, Cruceanu, Cristiana, Lucae, Susanne, Cervantes, Pablo, Budde, Monika, Gade, Katrin, Heilbronner, Urs, Pedersen, Marianne Giørtz, Morris, Derek W., Weickert, Cynthia Shannon, Weickert, Thomas W., Macintyre, Donald J., Lawrence, Jacob, Elvsåshagen, Torbjørn, Smeland, Olav B., Djurovic, Srdjan, Xi, Simon, Green, Elaine K., Czerski, Piotr M., Hauser, Joanna, Xu, Wei, Vedder, Helmut, Oruc, Lilijana, Spijker, Anne T., Gordon, Scott D., Medland, Sarah E., Curtis, David, Mühleisen, Thomas W., Badner, Judith, Scheftner, William A., Sigurdsson, Engilbert, Schork, Nicholas J., Schatzberg, Alan F., Bækvad-Hansen, Marie, Bybjerg-Grauholm, Jonas, Hansen, Christine Søholm, Knowles, James A., Szelinger, Szabolcs, Montgomery, Grant W., Boks, Marco, Adolfsson, Annelie Nordin, Hoffmann, Per, Bauer, Michael, Pfennig, Andrea, Leber, Markus, Kittel-Schneider, Sarah, Reif, Andreas, Del-Favero, Jurgen, Fischer, Sascha B., Herms, Stefan, Reinbold, Céline S., Degenhardt, Franziska, Koller, Anna C., Maaser, Anna, Ori, Anil, Dale, Anders M., Fan, Chun Chieh, Greenwood, Tiffany A., Nievergelt, Caroline M., Shehktman, Tatyana, Shilling, Paul D., Byerley, William, Bunney, William, Alliey-Rodriguez, Ney, Clarke, Toni Kim, Liu, Chunyu, Coryell, William, Akil, Huda, Burmeister, Margit, Flickinger, Matthew, Li, Jun Z., Mcinnis, Melvin G., Meng, Fan, Thompson, Robert C., Watson, Stanley J., Zollner, Sebastian, Guan, Weihua, Green, Melissa J., Craig, David, Sobell, Janet L., Milani, Lili, Gordon-Smith, Katherine, Knott, Sarah V., Perry, Amy, Parra, José Guzman, Mayoral, Fermin, Rivas, Fabio, Rice, John P., Barchas, Jack D., Børglum, Anders D., Mortensen, Preben Bo, Mors, Ole, Grigoroiu-Serbanescu, Maria, Bellivier, Frank, Etain, Bruno, Leboyer, Marion, Ramos-Quiroga, Josep Antoni, Agartz, Ingrid, Amin, Farooq, Azevedo, Maria H., Bass, Nicholas, Black, Donald W., Blackwood, Douglas H.R., Bruggeman, Richard, Buccola, Nancy G., Choudhury, Khalid, Cloninger, C. Robert, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Datta, Susmita, Donohoe, Gary J., Duan, Jubao, Dudbridge, Frank, Fanous, Ayman, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Gill, Michael, Gurling, Hugh, De Haan, Lieuwe, Hamshere, Marian L., Hartmann, Annette M., Holmans, Peter A., Kahn, René S., Keller, Matthew C., Kenny, Elaine, Kirov, George K., Krabbendam, Lydia, Krasucki, Robert, Lencz, Todd, Levinson, Douglas F., Lieberman, Jeffrey A., Lin, Dan Yu, Linszen, Don H., Magnusson, Patrik K.E., Maier, Wolfgang, Malhotra, Anil K., Mattheisen, Manuel, Mattingsdal, Morten, Mccarroll, Steven A., Medeiros, Helena, Melle, Ingrid, Milanova, Vihra, Myin-Germeys, Inez, Neale, Benjamin M., Ophoff, Roel A., Owen, Michael J., Pimm, Jonathan, Purcell, Shaun M., Puri, Vinay, Quested, Digby J., Rossin, Lizzy, Sanders, Alan R., Shi, Jianxin, Sklar, Pamela, St Clair, David, Stroup, T. Scott, Van Os, Jim, Wiersma, Durk, and Zammit, Stanley
Published: 2018

18. Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Author: Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J, Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A, Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L, Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P, Mowry, Bryan J, Ngo, Shyuan T, Pamphlett, Roger, Ran, Shu, Reutens, David C, Rowe, Dominic B, Sachdev, Perminder S., Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H, van Rheenen, Wouter, Veldink, Jan H, Wallace, Robyn H, Wheeler, Lawrie, Williams, Kelly L, Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G, Blair, Ian P, Henderson, Robert D, McCombe, Pamela A, Visscher, Peter M., Xu, Huji, Bartlett, Perry F, Brown, Matthew A., Wray, Naomi R, Fan, Dongsheng, Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J, Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A, Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L, Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P, Mowry, Bryan J, Ngo, Shyuan T, Pamphlett, Roger, Ran, Shu, Reutens, David C, Rowe, Dominic B, Sachdev, Perminder S., Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H, van Rheenen, Wouter, Veldink, Jan H, Wallace, Robyn H, Wheeler, Lawrie, Williams, Kelly L, Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G, Blair, Ian P, Henderson, Robert D, McCombe, Pamela A, Visscher, Peter M., Xu, Huji, Bartlett, Perry F, Brown, Matthew A., Wray, Naomi R, and Fan, Dongsheng
Published: 2017

19. Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Author: Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, ZL Neuromusculaire Ziekten Medisch, Opleiding Neurologie, Neurogenetica, Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J, Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A, Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L, Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P, Mowry, Bryan J, Ngo, Shyuan T, Pamphlett, Roger, Ran, Shu, Reutens, David C, Rowe, Dominic B, Sachdev, Perminder S., Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H, van Rheenen, Wouter, Veldink, Jan H, Wallace, Robyn H, Wheeler, Lawrie, Williams, Kelly L, Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G, Blair, Ian P, Henderson, Robert D, McCombe, Pamela A, Visscher, Peter M., Xu, Huji, Bartlett, Perry F, Brown, Matthew A., Wray, Naomi R, Fan, Dongsheng, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, ZL Neuromusculaire Ziekten Medisch, Opleiding Neurologie, Neurogenetica, Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J, Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A, Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L, Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P, Mowry, Bryan J, Ngo, Shyuan T, Pamphlett, Roger, Ran, Shu, Reutens, David C, Rowe, Dominic B, Sachdev, Perminder S., Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H, van Rheenen, Wouter, Veldink, Jan H, Wallace, Robyn H, Wheeler, Lawrie, Williams, Kelly L, Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G, Blair, Ian P, Henderson, Robert D, McCombe, Pamela A, Visscher, Peter M., Xu, Huji, Bartlett, Perry F, Brown, Matthew A., Wray, Naomi R, and Fan, Dongsheng
Published: 2017

20. Corrigendum to: Sporadic cases are the norm for complex disease

Author: Yang, Jian, Visscher, Peter M, and Wray, Naomi R
Subjects: Corrigendum
Published: 2010

21. Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Author: Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Kähler, Anna K, Akterin, Susanne, Bergen, Sarah E, Collins, Ann L, Crowley, James J, Fromer, Menachem, Kim, Yunjung, Lee, Sang Hong, Magnusson, Patrik K E, Sanchez, Nick, Stahl, Eli A, Williams, Stephanie, Wray, Naomi R, Xia, Kai, Bettella, Francesco, Borglum, Anders D, Bulik-Sullivan, Brendan K, Cormican, Paul, Craddock, Nick, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L, Holmans, Peter, Hougaard, David M, Kendler, Kenneth S, Lin, Kuang, Morris, Derek W, Mors, Ole, Mortensen, Preben B, Neale, Benjamin M, O'Neill, Francis A, Owen, Michael J, Milovancevic, Milica Pejovic, Posthuma, Danielle, Powell, John, Richards, Alexander L, Riley, Brien P, Ruderfer, Douglas, Rujescu, Dan, Sigurdsson, Engilbert, Silagadze, Teimuraz, Smit, August B, Stefansson, Hreinn, Steinberg, Stacy, Suvisaari, Jaana, Tosato, Sarah, Verhage, Matthijs, Walters, James T, Levinson, Douglas F, Gejman, Pablo V, Laurent, Claudine, Mowry, Bryan J, O'Donovan, Michael C, Pulver, Ann E, Schwab, Sibylle G, Wildenauer, Dieter B, Dudbridge, Frank, Shi, Jianxin, Albus, Margot, Alexander, Madeline, Campion, Dominique, Cohen, David, Dikeos, Dimitris, Duan, Jubao, Eichhammer, Peter, Godard, Stephanie, Hansen, Mark, Lerer, F Bernard, Liang, Kung-Yee, Maier, Wolfgang, Mallet, Jacques, Nertney, Deborah A, Nestadt, Gerald, Norton, Nadine, Papadimitriou, George N, Ribble, Robert, Sanders, Alan R, Silverman, Jeremy M, Walsh, Dermot, Williams, Nigel M, Wormley, Brandon, Arranz, Maria J, Bakker, Steven, Bender, Stephan, Bramon, Elvira, Collier, David, Crespo-Facorro, Benedicto, Hall, Jeremy, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene S, Kalaydjieva, Luba, Lawrie, Stephen, Lewis, Cathryn M, Linszen, Don H, Mata, Ignacio, McIntosh, Andrew, Murray, Robin M, Ophoff, Roel A, Van Os, Jim, Walshe, Muriel, Weisbrod, Matthias, Wiersma, Durk, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Brown, Matthew A, Casas, Juan P, Corvin, Aiden P, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard D, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Tashakkori-Ghanbaria, Avazeh, Waller, Matthew J, Weston, Paul, Widaa, Sara, Whittaker, Pamela, McCarthy, Mark I, Stefansson, Kari, Scolnick, Edward, Purcell, Shaun, McCarroll, Steven A, Sklar, Pamela, Hultman, Christina M, Sullivan, Patrick F, Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Kähler, Anna K, Akterin, Susanne, Bergen, Sarah E, Collins, Ann L, Crowley, James J, Fromer, Menachem, Kim, Yunjung, Lee, Sang Hong, Magnusson, Patrik K E, Sanchez, Nick, Stahl, Eli A, Williams, Stephanie, Wray, Naomi R, Xia, Kai, Bettella, Francesco, Borglum, Anders D, Bulik-Sullivan, Brendan K, Cormican, Paul, Craddock, Nick, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L, Holmans, Peter, Hougaard, David M, Kendler, Kenneth S, Lin, Kuang, Morris, Derek W, Mors, Ole, Mortensen, Preben B, Neale, Benjamin M, O'Neill, Francis A, Owen, Michael J, Milovancevic, Milica Pejovic, Posthuma, Danielle, Powell, John, Richards, Alexander L, Riley, Brien P, Ruderfer, Douglas, Rujescu, Dan, Sigurdsson, Engilbert, Silagadze, Teimuraz, Smit, August B, Stefansson, Hreinn, Steinberg, Stacy, Suvisaari, Jaana, Tosato, Sarah, Verhage, Matthijs, Walters, James T, Levinson, Douglas F, Gejman, Pablo V, Laurent, Claudine, Mowry, Bryan J, O'Donovan, Michael C, Pulver, Ann E, Schwab, Sibylle G, Wildenauer, Dieter B, Dudbridge, Frank, Shi, Jianxin, Albus, Margot, Alexander, Madeline, Campion, Dominique, Cohen, David, Dikeos, Dimitris, Duan, Jubao, Eichhammer, Peter, Godard, Stephanie, Hansen, Mark, Lerer, F Bernard, Liang, Kung-Yee, Maier, Wolfgang, Mallet, Jacques, Nertney, Deborah A, Nestadt, Gerald, Norton, Nadine, Papadimitriou, George N, Ribble, Robert, Sanders, Alan R, Silverman, Jeremy M, Walsh, Dermot, Williams, Nigel M, Wormley, Brandon, Arranz, Maria J, Bakker, Steven, Bender, Stephan, Bramon, Elvira, Collier, David, Crespo-Facorro, Benedicto, Hall, Jeremy, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene S, Kalaydjieva, Luba, Lawrie, Stephen, Lewis, Cathryn M, Linszen, Don H, Mata, Ignacio, McIntosh, Andrew, Murray, Robin M, Ophoff, Roel A, Van Os, Jim, Walshe, Muriel, Weisbrod, Matthias, Wiersma, Durk, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Brown, Matthew A, Casas, Juan P, Corvin, Aiden P, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard D, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Tashakkori-Ghanbaria, Avazeh, Waller, Matthew J, Weston, Paul, Widaa, Sara, Whittaker, Pamela, McCarthy, Mark I, Stefansson, Kari, Scolnick, Edward, Purcell, Shaun, McCarroll, Steven A, Sklar, Pamela, Hultman, Christina M, and Sullivan, Patrick F
Abstract: Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300–10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.
Published: 2013

22. Don't give up on GWAS

Author: Sullivan, P., Andreassen, Ole A, Anney, Richard J L, Asherson, Philip, Ashley-Koch, Allison, Blackwood, Douglas, Boomsma, Dorret I, Breen, Gerome, Buitelaar, Jan, Bulik, Cynthia M, Cichon, Sven, Collier, David, Corvin, Aiden, Craddock, Nicholas, DeLisi, Lynn E, Ebstein, Richard, Edenberg, Howard J, Estivill, Xavier, Faraone, Stephen V, Farmer, Anne E, Fernandez-Aranda, Fernando, Flint, Jonathan, Foroud, Tatiana, Franke, Barbara, Gelernter, Joel, Gill, Michael, Grabe, Hans J, Hamilton, Steven P, Hickie, Ian B, Hoogendijk, Witte, Jablensky, Assen, Kalaydjieva, Luba, Kaprio, Jaakko, Kas, Martien, Keller, Matthew, Kelsoe, John, Kendler, Kenneth S, Kennedy, Martin, Kent, Lindsey, Klump, Kelly, Knowles, James A, Levinson, Douglas F, Lewis, Cathryn M, Lichtenstein, Paul, Lucae, Susanne, Martin, Nicholas G, McCarroll, Steve, McGough, James, McGrath, John J, McGuffin, Peter, Mitchell, Philip, Mowry, Bryan, Muglia, Pierandrea, Müller-Myhsok, Bertram, Neale, Benjamin, Nöthen, Markus, Nurnberger, John I, Oades, Robert D., O'Donovan, Michael, Ophoff, Roel, Owen, Michael, Pato, Carlos N, Pato, Michele T, Penninx, Brenda W, Perlis, Roy H, Porjesz, Bernice, Posthuma, Danielle, Potash, James B, Preisig, Martin, Reichborn-Kjennerud, Ted, Rice, John P, Rietschel, Marcella, Riley, Brien, Ripke, Stephan, Rothenberger, Aribert, Rujescu, Dan, Santangelo, Susan L, Schachar, Russell, Schellenberg, Gerard D, Scherer, Stephen W, Schofield, Peter, Schulze, Thomas G, Sklar, Pamela, Smoller, Jordan W, Stefansson, Hreinn, Stefansson, Kari, Todorov, Alexandre, Tozzi, Federica, Tzeng, Jung-Ying, van den Oord, Edwin J. C. G., Vorstman, Jacob A S, Wang, Kai, Weissman, Myrna M, Werge, Thomas, Wray, Naomi R, Zeggini, Eleftheria, Psychiatry, Human genetics, EMGO - Mental health, NCA - Attention & Cognition, Functional Genomics, Biological Psychology, Neuroscience Campus Amsterdam - Attention & Cognition, and EMGO+ - Mental Health
Subjects: Netherlands Twin Register (NTR), Mental Disorders, Medizin, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Cellular and Molecular Neuroscience, Psychiatry and Mental health, Financial Support, Humans, DCN PAC - Perception action and control NCEBP 9 - Mental health, Psychology, Molecular Biology, Humanities, Genome-Wide Association Study
Abstract: Item does not contain fulltext Buitelaar J, Bulik CM, Cichon S, Collier D, Corvin A, Craddock N, DeLisi LE, Ebstein R, Edenberg HJ, Estivill X, Faraone SV, Farmer AE, Fernandez-Aranda F, Flint J, Foroud T, Franke B, Gelernter J, Gill M, Grabe HJ, Hamilton SP, Hickie IB, Hoogendijk W, Jablensky A, Kalaydjieva L, Kaprio J, Kas M, Keller M, Kelsoe J, Kendler KS, Kennedy M, Kent L, Klump K, Knowles JA, Levinson DF, Lewis CM, Lichtenstein P, Lucae S, Martin NG, McCarroll S, McGough J, McGrath JJ, McGuffin P, Mitchell P, Mowry B, Muglia P, Müller-Myhsok B, Neale B, Nöthen M, Nurnberger JI, Oades RD, O'Donovan M, Ophoff R, Owen M, Pato CN, Pato MT, Penninx BW, Perlis RH, Porjesz B, Posthuma D, Potash JB, Preisig M, Reichborn-Kjennerud T, Rice JP, Rietschel M, Riley B, Ripke S, Rothenberger A, Rujescu D, Santangelo SL, Schachar R, Schellenberg GD, Scherer SW, Schofield P, Schulze TG, Sklar P, Smoller JW, Stefansson H, Stefansson K, Sullivan P, Todorov A, Tozzi F, Tzeng JY, van den Oord EJ, Vorstman JA, Wang K, Weissman MM, Werge T, Wray NR, Zeggini E 01 januari 2012
Published: 2012
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23. Across-cohort QC analyses of GWAS summary statistics from complex traits

Author: Chen, Guo-Bo, Lee, Sang Hong, Robinson, Matthew R, Trzaskowski, Maciej, Zhu, Zhi-Xiang, Winkler, Thomas W, Day, Felix R, Croteau-Chonka, Damien C, Wood, Andrew R, Locke, Adam E, Kutalik, Zoltán, Loos, Ruth J F, Frayling, Timothy M, Hirschhorn, Joel N, Yang, Jian, Wray, Naomi R, and Visscher, Peter M
Abstract: Genome-wide association studies (GWASs) have been successful in discovering SNP trait associations for many quantitative traits and common diseases. Typically, the effect sizes of SNP alleles are very small and this requires large genome-wide association meta-analyses (GWAMAs) to maximize statistical power. A trend towards ever-larger GWAMA is likely to continue, yet dealing with summary statistics from hundreds of cohorts increases logistical and quality control problems, including unknown sample overlap, and these can lead to both false positive and false negative findings. In this study, we propose four metrics and visualization tools for GWAMA, using summary statistics from cohort-level GWASs. We propose methods to examine the concordance between demographic information, and summary statistics and methods to investigate sample overlap. (I) We use the population genetics Fst statistic to verify the genetic origin of each cohort and their geographic location, and demonstrate using GWAMA data from the GIANT Consortium that geographic locations of cohorts can be recovered and outlier cohorts can be detected. (II) We conduct principal component analysis based on reported allele frequencies, and are able to recover the ancestral information for each cohort. (III) We propose a new statistic that uses the reported allelic effect sizes and their standard errors to identify significant sample overlap or heterogeneity between pairs of cohorts. (IV) To quantify unknown sample overlap across all pairs of cohorts, we propose a method that uses randomly generated genetic predictors that does not require the sharing of individual-level genotype data and does not breach individual privacy.
Published: 2017
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24. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Author: McLaughlin, Russell L., Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R., O'Brien, Margaret, Kahn, René S., Ophoff, Roel A., Goris, An, Bradley, Daniel G., Al-Chalabi, Ammar, van den Berg, Leonard H., Luykx, Jurjen J., Hardiman, Orla, Veldink, Jan H., Shatunov, Aleksey, Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., van der Spek, Rick A. A., van Doormaal, Perry T. C., Sproviero, William, Jones, Ashley R., Nicholson, Garth A., Rowe, Dominic B., Pamphlett, Roger, Kiernan, Matthew C., Bauer, Denis, Kahlke, Tim, Williams, Kelly, Eftimov, Filip, Fogh, Isabella, Ticozzi, Nicola, Lin, Kuang, Millecamps, Stéphanie, Salachas, François, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Mora, Jesus S., Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Petri, Susanne, Abdulla, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thomas, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Basak, Nazli, Meitinger, Thomas, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Maurel, Cindy, Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexis, Payan, Christine A. M., Saker-Delye, Safa, Dürr, Alexandra, Wood, Nicholas, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöuthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean- François, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charles, van der Kooi, Anneke J., de Visser, Marianne, Weber, Markus, Shaw, Christopher E., Smith, Bradley N., Pansarasa, Orietta, Cereda, Cristina, Del Bo, Roberto, Comi, Giacomo P., D'Alfonso, Sandra, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia, Tiloca, Cinzia, Ratti, Antonia, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Arcuti, Simon, Capozzo, Rosa, Zecca, Chiara, Lunetta, Christian, Penco, Silvana, Riva, Nilo, Padovani, Alessandro, Filosto, Massimiliano, Blair, Ian, Leigh, P Nigel, Casale, Federico, Chio, Adriano, Beghi, Ettore, Pupillo, Elisabetta, Tortelli, Rosanna, Logroscino, Giancarlo, Powell, John, Ludolph, Albert C., Weishaupt, Jochen H., Robberecht, Wim, Van Damme, Philip, Brown, Robert H., Glass, Jonathan, Landers, John E., Andersen, Peter M., Corcia, Philippe, Vourc'h, Patrick, Silani, Vincenzo, van Es, Michael A., Pasterkamp, R Jeroen, Lewis, Cathryn M., Breen, Gerome, Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T. R., Farh, Kai-How, Holmans, Peter A, Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberley D., Chan, Raymond C. K., Chan, Ronald Y. L., Chen, Eric Y. H., Cheng, Wei, Cheung, Eric F. C., Chong, Siow Ann, Cloninger, C Robert, Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, de Haan, Lieuwe, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Julià, Antonio, Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Kähler, Anna K., Laurent, Claudine, Lee, Jimmy, Lee, S Hong, Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Li, Tao, Liang, Kung-Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lönnqvist, Jouko, Macek, Milan, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Müller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, O'Callaghan, Eadbhard, O'Dushlaine, Colm, O'Neill, F Anthony, Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Van Os, Jim, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., Pietiläinen, Olli, Pimm, Jonathan, Pocklington, Andrew J., 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., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon-Cheong, Spencer, Chris C. A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Stroup, T Scott, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Söderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H. M., Wormley, Brandon K., Xi, Hualin Simon, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Wray, Naomi R., Stefansson, Kari, Visscher, Peter M., Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H. R., Bramon, Elvira, Buxbaum, Joseph D., Børglum, Anders D., Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, 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, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mortensen, Preben B., Mowry, Bryan J., Owen, Michael J., Palotie, Aarno, Pato, Carlos N., Petryshen, Tracey L., Posthuma, Danielle, Riley, Brien P., Rujescu, Dan, Sham, Pak C., Sklar, Pamela, St Clair, David, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., Sullivan, Patrick F., and O'Donovan, Michael C.
Abstract: We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05–21.6; P=1 × 10−4) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10−7). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08–1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.
Published: 2017
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25. Multi-Locus Genome-Wide Association Analysis Supports the Role of Glutamatergic Synaptic Transmission in the Etiology of Major Depressive Disorder

Author: Lee, Phil Hyoun, Perlis, Roy H., Jung, Jae-Yoon, Byrne, Enda M., Haddad, Stephen, Rueckert, Erroll, Siburian, Richie, Mayerfeld, Catherine E., Heath, Andrew C., Pergadia, Michele L., Madden, Pamela A.F., Boomsma, Dorret I., Penninx, Brenda W., Sklar, Pamela, Martin, Nicholas G., Purcell, Shaun, Smoller, Jordan W, and Wray, Naomi R.
Subjects: genome-wide association study, glutamatergic synaptic neurotransmission, major depressive disorder, pathway analysis
Abstract: Major depressive disorder (MDD) is a common psychiatric illness characterized by low mood and loss of interest in pleasurable activities. Despite years of effort, recent genome-wide association studies (GWAS) have identified few susceptibility variants or genes that are robustly associated with MDD. Standard single-SNP (single nucleotide polymorphism)-based GWAS analysis typically has limited power to deal with the extensive heterogeneity and substantial polygenic contribution of individually weak genetic effects underlying the pathogenesis of MDD. Here, we report an alternative, gene-set-based association analysis of MDD in an effort to identify groups of biologically related genetic variants that are involved in the same molecular function or cellular processes and exhibit a significant level of aggregated association with MDD. In particular, we used a text-mining-based data analysis to prioritize candidate gene sets implicated in MDD and conducted a multi-locus association analysis to look for enriched signals of nominally associated MDD susceptibility loci within each of the gene sets. Our primary analysis is based on the meta-analysis of three large MDD GWAS data sets (total N=4346 cases and 4430 controls). After correction for multiple testing, we found that genes involved in glutamatergic synaptic neurotransmission were significantly associated with MDD (set-based association \(P=6.9 × 10^{−4}\)). This result is consistent with previous studies that support a role of the glutamatergic system in synaptic plasticity and MDD and support the potential utility of targeting glutamatergic neurotransmission in the treatment of MDD.
Published: 2012
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26. Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Author: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY USA Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA deCODE Genet, Reykjavik, Iceland Aarhus Univ Hosp, Risskov, Denmark Aarhus Univ, Ctr Integrat Sequencing iSEQ, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Copenhagen, Denmark Univ Dublin Trinity Coll, Dept Psychiat, Dublin 2, Ireland Cardiff Univ, Sch Med, Ctr Psychiat Genet & Genom, MRC, Cardiff CF10 3AX, S Glam, Wales Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom, Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands Radboud Univ Nijmegen, Inst Comp & Informat Sci, NL-6525 ED Nijmegen, Netherlands Univ Clin Psychiat, Dept Child & Adolescent Psychiat, Skopje, Macedonia Univ Dublin Trinity Coll, Neuropsychiat Genet Res Grp, Dublin 2, Ireland Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia Statens Serum Inst, DK-2300 Copenhagen, Denmark Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Richmond, VA USA Kings Coll London, Inst Psychiat, London, England Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark Aarhus Univ, Natl Ctr Register Based Res, Aarhus, DenmarkQueens Univ Belfast, Ctr Publ Hlth, Belfast, Antrim, North Ireland Univ Belgrade, Fac Med, Belgrade, Serbia Erasmus Univ, Med Ctr, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands Kings Coll London, Dept Neurosci, London, England Virginia Commonwealth Univ, Dept Human & Mol Genet, Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Kähler, Anna K, Akterin, Susanne, Bergen, Sarah E, Collins, Ann L, Crowley, James J, Fromer, Menachem, Kim, Yunjung, Bender, Stephan, Bramon, Elvira, Collier, David, Crespo-Facorro, Benedicto, Hall, Jeremy, Iyegbe, Conrad, McIntosh, Andrew, Murray, Robin M, Lee, Sang Hong, Ophoff, Roel A, Scolnick, Edward, Powell, John, Rujescu, Dan, Van Os, Jim, Walshe, Muriel, Weisbrod, Matthias, Wiersma, Durk, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Magnusson, Patrik K E, Purcell, Shaun, Brown, Matthew A, Casas, Juan P, Corvin, Aiden P, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, McCarroll, Steven A, Sanchez, Nick, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Sklar, Pamela, Freeman, Colin, Stahl, Eli A, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard D, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Hultman, Christina M, Langford, Cordelia, Hunt, Sarah E, Williams, Stephanie, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Sullivan, Patrick F, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Wray, Naomi R, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Tashakkori-Ghanbaria, Avazeh, Waller, Matthew J, Borglum, Anders D, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Xia, Kai, Bulik-Sullivan, Brendan K, McCarthy, Mark I, O'Donovan, Michael C, Bettella, Francesco, Stefansson, Kari, Cormican, Paul, Craddock, Nick, Jablensky, Assen, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L, Holmans, Peter, Hougaard, David M, Kendler, Kenneth S, Lin, Kuang, Morris, Derek W, Kahn, Rene S, Mors, Ole, Mortensen, Preben B, Neale, Benjamin M, O'Neill, Francis A, Owen, Michael J, Milovancevic, Milica Pejovic, Posthuma, Danielle, Richards, Alexander L, Riley, Brien P, Kalaydjieva, Luba, Ruderfer, Douglas, Sigurdsson, Engilbert, Silagadze, Teimuraz, Smit, August B, Stefansson, Hreinn, Steinberg, Stacy, Suvisaari, Jaana, Tosato, Sarah, Verhage, Matthijs, Lawrie, Stephen, Walters, James T, Levinson, Douglas F, Gejman, Pablo V, Laurent, Claudine, Mowry, Bryan J, Pulver, Ann E, Lewis, Cathryn M, Schwab, Sibylle G, Wildenauer, Dieter B, Dudbridge, Frank, Shi, Jianxin, Albus, Margot, Alexander, Madeline, Campion, Dominique, Cohen, David, Dikeos, Dimitris, Duan, Jubao, Eichhammer, Peter, Godard, Stephanie, Hansen, Mark, Lerer, F Bernard, Liang, Kung-Yee, Maier, Wolfgang, Mallet, Jacques, Nertney, Deborah A, Nestadt, Gerald, Linszen, Don H, Norton, Nadine, Papadimitriou, George N, Ribble, Robert, Sanders, Alan R, Silverman, Jeremy M, Walsh, Dermot, Williams, Nigel M, Wormley, Brandon, Arranz, Maria J, Mata, Ignacio, Bakker, Steven, Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY USA Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA deCODE Genet, Reykjavik, Iceland Aarhus Univ Hosp, Risskov, Denmark Aarhus Univ, Ctr Integrat Sequencing iSEQ, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Copenhagen, Denmark Univ Dublin Trinity Coll, Dept Psychiat, Dublin 2, Ireland Cardiff Univ, Sch Med, Ctr Psychiat Genet & Genom, MRC, Cardiff CF10 3AX, S Glam, Wales Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom, Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands Radboud Univ Nijmegen, Inst Comp & Informat Sci, NL-6525 ED Nijmegen, Netherlands Univ Clin Psychiat, Dept Child & Adolescent Psychiat, Skopje, Macedonia Univ Dublin Trinity Coll, Neuropsychiat Genet Res Grp, Dublin 2, Ireland Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia Statens Serum Inst, DK-2300 Copenhagen, Denmark Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Richmond, VA USA Kings Coll London, Inst Psychiat, London, England Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark Aarhus Univ, Natl Ctr Register Based Res, Aarhus, DenmarkQueens Univ Belfast, Ctr Publ Hlth, Belfast, Antrim, North Ireland Univ Belgrade, Fac Med, Belgrade, Serbia Erasmus Univ, Med Ctr, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands Kings Coll London, Dept Neurosci, London, England Virginia Commonwealth Univ, Dept Human & Mol Genet, Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Kähler, Anna K, Akterin, Susanne, Bergen, Sarah E, Collins, Ann L, Crowley, James J, Fromer, Menachem, Kim, Yunjung, Bender, Stephan, Bramon, Elvira, Collier, David, Crespo-Facorro, Benedicto, Hall, Jeremy, Iyegbe, Conrad, McIntosh, Andrew, Murray, Robin M, Lee, Sang Hong, Ophoff, Roel A, Scolnick, Edward, Powell, John, Rujescu, Dan, Van Os, Jim, Walshe, Muriel, Weisbrod, Matthias, Wiersma, Durk, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Magnusson, Patrik K E, Purcell, Shaun, Brown, Matthew A, Casas, Juan P, Corvin, Aiden P, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, McCarroll, Steven A, Sanchez, Nick, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Sklar, Pamela, Freeman, Colin, Stahl, Eli A, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard D, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Hultman, Christina M, Langford, Cordelia, Hunt, Sarah E, Williams, Stephanie, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Sullivan, Patrick F, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Wray, Naomi R, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Tashakkori-Ghanbaria, Avazeh, Waller, Matthew J, Borglum, Anders D, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Xia, Kai, Bulik-Sullivan, Brendan K, McCarthy, Mark I, O'Donovan, Michael C, Bettella, Francesco, Stefansson, Kari, Cormican, Paul, Craddock, Nick, Jablensky, Assen, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L, Holmans, Peter, Hougaard, David M, Kendler, Kenneth S, Lin, Kuang, Morris, Derek W, Kahn, Rene S, Mors, Ole, Mortensen, Preben B, Neale, Benjamin M, O'Neill, Francis A, Owen, Michael J, Milovancevic, Milica Pejovic, Posthuma, Danielle, Richards, Alexander L, Riley, Brien P, Kalaydjieva, Luba, Ruderfer, Douglas, Sigurdsson, Engilbert, Silagadze, Teimuraz, Smit, August B, Stefansson, Hreinn, Steinberg, Stacy, Suvisaari, Jaana, Tosato, Sarah, Verhage, Matthijs, Lawrie, Stephen, Walters, James T, Levinson, Douglas F, Gejman, Pablo V, Laurent, Claudine, Mowry, Bryan J, Pulver, Ann E, Lewis, Cathryn M, Schwab, Sibylle G, Wildenauer, Dieter B, Dudbridge, Frank, Shi, Jianxin, Albus, Margot, Alexander, Madeline, Campion, Dominique, Cohen, David, Dikeos, Dimitris, Duan, Jubao, Eichhammer, Peter, Godard, Stephanie, Hansen, Mark, Lerer, F Bernard, Liang, Kung-Yee, Maier, Wolfgang, Mallet, Jacques, Nertney, Deborah A, Nestadt, Gerald, Linszen, Don H, Norton, Nadine, Papadimitriou, George N, Ribble, Robert, Sanders, Alan R, Silverman, Jeremy M, Walsh, Dermot, Williams, Nigel M, Wormley, Brandon, Arranz, Maria J, Mata, Ignacio, and Bakker, Steven
Abstract: To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field., Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.

27. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

Author: Andrew Pocklington, Ole Mors, Rolf Adolfsson, James Walters, Hon-Cheong So, Joseph Buxbaum, Douglas Ruderfer, Naomi Wray, Markus Nöthen, Joanne Knight, Silviu-Alin Bacanu, Inez Myin-Germeys, Francis Anthony O'Neill, Sang Hong Lee, Antonio Julià Cano, Peter Visscher, Michael O'Donovan, Morten Mattingsdal, Thomas Folkmann Hansen, Esben Agerbo, Petr Slominsky, Sara Marsal, Joshua Roffman, Jingqin Wu, Ditte Demontis, David Collier, Enrico Domenici, Fritz Zimprich, Alexander Gusev, Hannelore Ehrenreich, Richard Bruggeman, Sarah Bergen, Bryan Mowry, Patrik Magnusson, Lude Franke, Srdjan Djurovic, Kang Sim, Anders Børglum, Sophie Legge, Jakob Grove, Sergi Papiol, Bradley Webb, Elisabeth Stögmann, RS: MHeNs - R2 - Mental Health, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), Psychiatrie & Neuropsychologie, Loh, Po-Ru, Bhatia, Gaurav, Gusev, Alexander, Finucane, Hilary K, Bulik-Sullivan, Brendan K, Pollack, Samuela J, de Candia, Teresa R, Lee, Sang Hong, Wray, Naomi R, Kendler, Kenneth S, O'Donovan, Michael C, Neale, Benjamin M, Patterson, Nick, Price, Alkes L, and Schizophrenia Working Group of the Psychiatric Genomics Consortium
Subjects: medicine.medical_specialty, Aging, Multifactorial Inheritance, medical genetics, Schizophrenia (object-oriented programming), disease architecture, Genome-wide association study, Genomics, Single-nucleotide polymorphism, Computational biology, Disease, Biology, heritability, Polymorphism, Single Nucleotide, Article, variance-components analysis, Risk Factors, Genetics, medicine, genomics, GWAS, Humans, Genetic Predisposition to Disease, Human height, Polymorphism, Genetics & Heredity, Analysis of Variance, genome-wide association study, Single Nucleotide, Heritability, schizophrenia, Phenotype, Schizophrenia, Medical genetics, Genome-Wide Association Study, Algorithms
Abstract: Heritability analyses of genome-wide association study (GWAS) cohorts have yielded important insights into complex disease architecture, and increasing sample sizes hold the promise of further discoveries. Here we analyze the genetic architectures of schizophrenia in 49,806 samples from the PGC and nine complex diseases in 54,734 samples from the GERA cohort. For schizophrenia, we infer an overwhelmingly polygenic disease architecture in which >= 71% of 1-Mb genomic regions harbor >= 1 variant influencing schizophrenia risk. We also observe significant enrichment of heritability in GC-rich regions and in higher-frequency SNPs for both schizophrenia and GERA diseases. In bivariate analyses, we observe significant genetic correlations (ranging from 0.18 to 0.85) for several pairs of GERA diseases; genetic correlations were on average 1.3 tunes stronger than the correlations of overall disease liabilities. To accomplish these analyses, we developed a fast algorithm for multicomponent, multi-trait variance-components analysis that overcomes prior computational barriers that made such analyses intractable at this scale. Refereed/Peer-reviewed
Published: 2015
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28. Association between DNA methylation variability and self-reported exposure to heavy metals.

Author: Freydenzon A, Nabais MF, Lin T, Williams KL, Wallace L, Henders AK, Blair IP, Wray NR, Pamphlett R, and McRae AF
Subjects: Environmental Exposure adverse effects, Humans, Self Report, Smoking, DNA Methylation, Metals, Heavy
Abstract: Individuals encounter varying environmental exposures throughout their lifetimes. Some exposures such as smoking are readily observed and have high personal recall; others are more indirect or sporadic and might only be inferred from long occupational histories or lifestyles. We evaluated the utility of using lifetime-long self-reported exposures for identifying differential methylation in an amyotrophic lateral sclerosis cases-control cohort of 855 individuals. Individuals submitted paper-based surveys on exposure and occupational histories as well as whole blood samples. Genome-wide DNA methylation levels were quantified using the Illumina Infinium Human Methylation450 array. We analyzed 15 environmental exposures using the OSCA software linear and MOA models, where we regressed exposures individually by methylation adjusted for batch effects and disease status as well as predicted scores for age, sex, cell count, and smoking status. We also regressed on the first principal components on clustered environmental exposures to detect DNA methylation changes associated with a more generalised definition of environmental exposure. Five DNA methylation probes across three environmental exposures (cadmium, mercury and metalwork) were significantly associated using the MOA models and seven through the linear models, with one additionally across a principal component representing chemical exposures. Methylome-wide significance for four of these markers was driven by extreme hyper/hypo-methylation in small numbers of individuals. The results indicate the potential for using self-reported exposure histories in detecting DNA methylation changes in response to the environment, but also highlight the confounded nature of environmental exposure in cohort studies., (© 2022. The Author(s).)
Published: 2022
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29. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.

Author: Restuadi R, Garton FC, Benyamin B, Lin T, Williams KL, Vinkhuyzen A, van Rheenen W, Zhu Z, Laing NG, Mather KA, Sachdev PS, Ngo ST, Steyn FJ, Wallace L, Henders AK, Visscher PM, Needham M, Mathers S, Nicholson G, Rowe DB, Henderson RD, McCombe PA, Pamphlett R, Blair IP, Wray NR, and McRae AF
Subjects: Australia, Cognition, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Humans, Polymorphism, Single Nucleotide, Risk Factors, Amyotrophic Lateral Sclerosis genetics, Neurodegenerative Diseases, Schizophrenia genetics
Abstract: Amyotrophic Lateral Sclerosis (ALS) is recognised to be a complex neurodegenerative disease involving both genetic and non-genetic risk factors. The underlying causes and risk factors for the majority of cases remain unknown; however, ever-larger genetic data studies and methodologies promise an enhanced understanding. Recent analyses using published summary statistics from the largest ALS genome-wide association study (GWAS) (20,806 ALS cases and 59,804 healthy controls) identified that schizophrenia (SCZ), cognitive performance (CP) and educational attainment (EA) related traits were genetically correlated with ALS. To provide additional evidence for these correlations, we built single and multi-trait genetic predictors using GWAS summary statistics for ALS and these traits, (SCZ, CP, EA) in an independent Australian cohort (846 ALS cases and 665 healthy controls). We compared methods for generating the risk predictors and found that the combination of traits improved the prediction (Nagelkerke-R 2 ) of the case-control logistic regression. The combination of ALS, SCZ, CP, and EA, using the SBayesR predictor method gave the highest prediction (Nagelkerke-R 2 ) of 0.027 (P value = 4.6 × 10 -8 ), with the odds-ratio for estimated disease risk between the highest and lowest deciles of individuals being 3.15 (95% CI 1.96-5.05). These results support the genetic correlation between ALS, SCZ, CP and EA providing a better understanding of the complexity of ALS., (© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.)
Published: 2022
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30. A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Author: Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Revsbech Christiansen M, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M, Agerbo E, Bøcker Pedersen C, Neale BM, Daly MJ, Wray NR, Nordentoft M, Mors O, Børglum AD, Bo Mortensen P, Buil A, Thompson WK, Geschwind DH, and Werge T
Subjects: Brain metabolism, Cohort Studies, Female, Genetic Loci, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, Risk Factors, Brain embryology, Gene Expression Regulation, Genetic Predisposition to Disease, Mental Disorders genetics
Abstract: There is mounting evidence that seemingly diverse psychiatric disorders share genetic etiology, but the biological substrates mediating this overlap are not well characterized. Here we leverage the unique Integrative Psychiatric Research Consortium (iPSYCH) study, a nationally representative cohort ascertained through clinical psychiatric diagnoses indicated in Danish national health registers. We confirm previous reports of individual and cross-disorder single-nucleotide polymorphism heritability for major psychiatric disorders and perform a cross-disorder genome-wide association study. We identify four novel genome-wide significant loci encompassing variants predicted to regulate genes expressed in radial glia and interneurons in the developing neocortex during mid-gestation. This epoch is supported by partitioning cross-disorder single-nucleotide polymorphism heritability, which is enriched at regulatory chromatin active during fetal neurodevelopment. These findings suggest that dysregulation of genes that direct neurodevelopment by common genetic variants may result in general liability for many later psychiatric outcomes.
Published: 2019
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31. Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

Author: Howard DM, Adams MJ, Clarke TK, Hafferty JD, Gibson J, Shirali M, Coleman JRI, Hagenaars SP, Ward J, Wigmore EM, Alloza C, Shen X, Barbu MC, Xu EY, Whalley HC, Marioni RE, Porteous DJ, Davies G, Deary IJ, Hemani G, Berger K, Teismann H, Rawal R, Arolt V, Baune BT, Dannlowski U, Domschke K, Tian C, Hinds DA, Trzaskowski M, Byrne EM, Ripke S, Smith DJ, Sullivan PF, Wray NR, Breen G, Lewis CM, and McIntosh AM
Subjects: Cohort Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Depression genetics, Depressive Disorder, Major genetics, Prefrontal Cortex metabolism
Abstract: Major depression is a debilitating psychiatric illness that is typically associated with low mood and anhedonia. Depression has a heritable component that has remained difficult to elucidate with current sample sizes due to the polygenic nature of the disorder. To maximize sample size, we meta-analyzed data on 807,553 individuals (246,363 cases and 561,190 controls) from the three largest genome-wide association studies of depression. We identified 102 independent variants, 269 genes, and 15 genesets associated with depression, including both genes and gene pathways associated with synaptic structure and neurotransmission. An enrichment analysis provided further evidence of the importance of prefrontal brain regions. In an independent replication sample of 1,306,354 individuals (414,055 cases and 892,299 controls), 87 of the 102 associated variants were significant after multiple testing correction. These findings advance our understanding of the complex genetic architecture of depression and provide several future avenues for understanding etiology and developing new treatment approaches.
Published: 2019
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32. The association between neonatal vitamin D status and risk of schizophrenia.

Author: Eyles DW, Trzaskowski M, Vinkhuyzen AAE, Mattheisen M, Meier S, Gooch H, Anggono V, Cui X, Tan MC, Burne THJ, Jang SE, Kvaskoff D, Hougaard DM, Nørgaard-Pedersen B, Cohen A, Agerbo E, Pedersen CB, Børglum AD, Mors O, Sah P, Wray NR, Mortensen PB, and McGrath JJ
Subjects: Adolescent, Adult, Calcifediol blood, Case-Control Studies, Child, Female, Humans, Infant, Newborn, Male, Risk Factors, Schizophrenia blood, Seasons, Vitamin D analogs & derivatives, Vitamin D Deficiency blood, Young Adult, Schizophrenia etiology, Vitamin D blood, Vitamin D Deficiency complications
Abstract: Clues from the epidemiology of schizophrenia, such as the increased risk in those born in winter/spring, have led to the hypothesis that prenatal vitamin D deficiency may increase the risk of later schizophrenia. We wish to explore this hypothesis in a large Danish case-control study (n = 2602). The concentration of 25 hydroxyvitamin D (25OHD) was assessed from neonatal dried blood samples. Incidence rate ratios (IRR) were calculated when examined for quintiles of 25OHD concentration. In addition, we examined statistical models that combined 25OHD concentration and the schizophrenia polygenic risk score (PRS) in a sample that combined the new sample with a previous study (total n = 3464; samples assayed and genotyped between 2008-2013). Compared to the reference (fourth) quintile, those in the lowest quintile (<20.4 nmol/L) had a significantly increased risk of schizophrenia (IRR = 1.44, 95%CI: 1.12-1.85). None of the other quintile comparisons were significantly different. There was no significant interaction between 25OHD and the PRS. Neonatal vitamin D deficiency was associated with an increased risk for schizophrenia in later life. These findings could have important public health implications related to the primary prevention of schizophrenia.
Published: 2018
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33. Identification of 55,000 Replicated DNA Methylation QTL.

Author: McRae AF, Marioni RE, Shah S, Yang J, Powell JE, Harris SE, Gibson J, Henders AK, Bowdler L, Painter JN, Murphy L, Martin NG, Starr JM, Wray NR, Deary IJ, Visscher PM, and Montgomery GW
Subjects: Genetic Association Studies, Humans, Polymorphism, Single Nucleotide, DNA Methylation, Epigenesis, Genetic, Quantitative Trait Loci
Abstract: DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth Cohorts of 1921 and 1936 (combined n = 1366). The trans mQTL SNPs were found to be over-represented in 1 Mbp subtelomeric regions, and on chromosomes 16 and 19. There was a significant increase in trans mQTL DNA methylation sites in upstream and 5' UTR regions. The genetic heritability of a number of complex traits and diseases was partitioned into components due to mQTL and the remainder of the genome. Significant enrichment was observed for height (p = 2.1 × 10 -10 ), ulcerative colitis (p = 2 × 10 -5 ), Crohn's disease (p = 6 × 10 -8 ) and coronary artery disease (p = 5.5 × 10 -6 ) when compared to a random sample of SNPs with matched minor allele frequency, although this enrichment is explained by the genomic location of the mQTL SNPs.
Published: 2018
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34. Trans-eQTLs identified in whole blood have limited influence on complex disease biology.

Author: Yap CX, Lloyd-Jones L, Holloway A, Smartt P, Wray NR, Gratten J, and Powell JE
Subjects: Biomarkers blood, Genetic Predisposition to Disease, Genome-Wide Association Study methods, Humans, Polymorphism, Single Nucleotide, Blood Cells metabolism, Genome-Wide Association Study standards, Quantitative Trait Loci
Abstract: Trans-eQTLs have been implicated in complex traits and common diseases, but many were initially identified on the basis of having an effect in cis, and there has been no assessment of the significance of the overlap in relation to chance expectations. Here, we investigated whether trans-expression quantitative trait loci (eQTL) associations identified in whole blood contribute to variance in complex traits by determining (1) whether genome-wide significant (GWS) single-nucleotide polymorphisms (SNPs) were enriched for trans-eQTL (including trans-only eQTL), and (2) whether the genomic regions surrounding associated trans-genes were enriched for statistical associations in the relevant GWAS. On average for a given phenotype, we identify 4.8% of GWS SNPs overlapping with trans-eQTL present in blood, and show that for the majority of these phenotypes, this observation does not exceed that expected by chance. Likewise, we observe no enrichment for genetic associations with the GWAS phenotype in the regions surrounding the linked trans-genes, with the exception of rheumatoid arthritis. Interestingly, the GWS SNPs for each phenotype were consistently more enriched for unique trans-eQTL SNPs than trans-eQTL SNP-probe pairs (p = 4 × 10 - 7 ), with schizophrenia the only exception. This relative enrichment for trans-eQTL SNPs over trans-eQTL SNP-probe pairs implies that trait-associated trans-eQTL SNPs in whole blood are less likely to be 'master regulators' than random trans-eQTL SNPs. Taken together, these results suggest little evidence for the role of blood-based trans-eQTL in complex traits and disease, although this may reflect the finite size of currently available data sets and our findings may not hold for trans-eQTLs in more trait-relevant tissues. All software is publically available at https://github.com/IMB-Computational-Genomics-Lab/eqtlOverlapper .
Published: 2018
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35. Age at first birth in women is genetically associated with increased risk of schizophrenia.

Author: Ni G, Gratten J, Wray NR, and Lee SH
Subjects: Adult, Female, Humans, Multifactorial Inheritance genetics, Pregnancy, Risk Factors, Genetic Predisposition to Disease, Maternal Age, Parturition physiology, Schizophrenia epidemiology, Schizophrenia genetics
Abstract: Previous studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.
Published: 2018
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36. Using information of relatives in genomic prediction to apply effective stratified medicine.

Author: Lee SH, Weerasinghe WM, Wray NR, Goddard ME, and van der Werf JH
Subjects: Computer Simulation, Humans, ROC Curve, Risk Assessment, Statistics as Topic, Family, Genetic Diseases, Inborn diagnosis, Genomics methods, Precision Medicine methods
Abstract: Genomic prediction shows promise for personalised medicine in which diagnosis and treatment are tailored to individuals based on their genetic profiles for complex diseases. We present a theoretical framework to demonstrate that prediction accuracy can be improved by targeting more informative individuals in the data set used to generate the predictors ("discovery sample") to include those with genetically close relationships with the subjects put forward for risk prediction. Increase of prediction accuracy from closer relationships is achieved under an additive model and does not rely on any family or interaction effects. Using theory, simulations and real data analyses, we show that the predictive accuracy or the area under the receiver operating characteristic curve (AUC) increased exponentially with decreasing effective size (N e ), i.e. when individuals are closely related. For example, with the sample size of discovery set N = 3000, heritability h 2 = 0.5 and population prevalence K = 0.1, AUC value approached to 0.9 and the top percentile of the estimated genetic profile scores had 23 times higher proportion of cases than the general population. This suggests that there is considerable room to increase prediction accuracy by using a design that does not exclude closer relationships., Competing Interests: The authors declare no competing financial interests.
Published: 2017
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37. Across-cohort QC analyses of GWAS summary statistics from complex traits.

Author: Chen GB, Lee SH, Robinson MR, Trzaskowski M, Zhu ZX, Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Kutalik Z, Loos RJF, Frayling TM, Hirschhorn JN, Yang J, Wray NR, and Visscher PM
Subjects: Alleles, Cohort Studies, Genetic Heterogeneity, Genotype, Humans, Phenotype, Polymorphism, Single Nucleotide, Software, Genome-Wide Association Study statistics & numerical data, Meta-Analysis as Topic, Quantitative Trait Loci genetics
Abstract: Genome-wide association studies (GWASs) have been successful in discovering SNP trait associations for many quantitative traits and common diseases. Typically, the effect sizes of SNP alleles are very small and this requires large genome-wide association meta-analyses (GWAMAs) to maximize statistical power. A trend towards ever-larger GWAMA is likely to continue, yet dealing with summary statistics from hundreds of cohorts increases logistical and quality control problems, including unknown sample overlap, and these can lead to both false positive and false negative findings. In this study, we propose four metrics and visualization tools for GWAMA, using summary statistics from cohort-level GWASs. We propose methods to examine the concordance between demographic information, and summary statistics and methods to investigate sample overlap. (I) We use the population genetics F st statistic to verify the genetic origin of each cohort and their geographic location, and demonstrate using GWAMA data from the GIANT Consortium that geographic locations of cohorts can be recovered and outlier cohorts can be detected. (II) We conduct principal component analysis based on reported allele frequencies, and are able to recover the ancestral information for each cohort. (III) We propose a new statistic that uses the reported allelic effect sizes and their standard errors to identify significant sample overlap or heterogeneity between pairs of cohorts. (IV) To quantify unknown sample overlap across all pairs of cohorts, we propose a method that uses randomly generated genetic predictors that does not require the sharing of individual-level genotype data and does not breach individual privacy.
Published: 2016
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38. Large-scale genomics unveils the genetic architecture of psychiatric disorders.

Author: Gratten J, Wray NR, Keller MC, and Visscher PM
Subjects: Animals, Genetic Variation genetics, Humans, Mental Disorders diagnosis, Polymorphism, Single Nucleotide genetics, Genetic Predisposition to Disease genetics, Genomics, Mental Disorders genetics
Abstract: Family study results are consistent with genetic effects making substantial contributions to risk of psychiatric disorders such as schizophrenia, yet robust identification of specific genetic variants that explain variation in population risk had been disappointing until the advent of technologies that assay the entire genome in large samples. We highlight recent progress that has led to a better understanding of the number of risk variants in the population and the interaction of allele frequency and effect size. The emerging genetic architecture implies a large number of contributing loci (that is, a high genome-wide mutational target) and suggests that genetic risk of psychiatric disorders involves the combined effects of many common variants of small effect, as well as rare and de novo variants of large effect. The capture of a substantial proportion of genetic risk facilitates new study designs to investigate the combined effects of genes and the environment.
Published: 2014
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39. Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes.

Author: Webb BT, Guo AY, Maher BS, Zhao Z, van den Oord EJ, Kendler KS, Riley BP, Gillespie NA, Prescott CA, Middeldorp CM, Willemsen G, de Geus EJ, Hottenga JJ, Boomsma DI, Slagboom EP, Wray NR, Montgomery GW, Martin NG, Wright MJ, Heath AC, Madden PA, Gelernter J, Knowles JA, Hamilton SP, Weissman MM, Fyer AJ, Huezo-Diaz P, McGuffin P, Farmer A, Craig IW, Lewis C, Sham P, Crowe RR, Flint J, and Hettema JM
Subjects: Humans, Neuroticism, Anxiety Disorders genetics, Genetic Linkage, Genome, Human genetics, Phenotype
Abstract: Genetic factors underlying trait neuroticism, reflecting a tendency towards negative affective states, may overlap genetic susceptibility for anxiety disorders and help explain the extensive comorbidity amongst internalizing disorders. Genome-wide linkage (GWL) data from several studies of neuroticism and anxiety disorders have been published, providing an opportunity to test such hypotheses and identify genomic regions that harbor genes common to these phenotypes. In all, 11 independent GWL studies of either neuroticism (n=8) or anxiety disorders (n=3) were collected, which comprised of 5341 families with 15 529 individuals. The rank-based genome scan meta-analysis (GSMA) approach was used to analyze each trait separately and combined, and global correlations between results were examined. False discovery rate (FDR) analysis was performed to test for enrichment of significant effects. Using 10 cM intervals, bins nominally significant for both GSMA statistics, P(SR) and P(OR), were found on chromosomes 9, 11, 12, and 14 for neuroticism and on chromosomes 1, 5, 15, and 16 for anxiety disorders. Genome-wide, the results for the two phenotypes were significantly correlated, and a combined analysis identified additional nominally significant bins. Although none reached genome-wide significance, an excess of significant P(SR)P-values were observed, with 12 bins falling under a FDR threshold of 0.50. As demonstrated by our identification of multiple, consistent signals across the genome, meta-analytically combining existing GWL data is a valuable approach to narrowing down regions relevant for anxiety-related phenotypes. This may prove useful for prioritizing emerging genome-wide association data for anxiety disorders.
Published: 2012
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40. Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes.

Author: Wray NR, Lee SH, and Kendler KS
Subjects: Bipolar Disorder genetics, Genetic Variation, Humans, Phenotype, Schizophrenia genetics, Genome, Human, Genotype
Abstract: Disorders that share genetic risk factors often are placed in closely related diagnostic categories and treated similarly. Until recently, evidence for shared genetic etiology derived from classical research strategies--coaggregation in family and twin studies. Accumulating sufficient numbers of families was often problematic. However, in the era of genome-wide genotyping, we can now directly estimate the degree of sharing of genetic risk factors between disorders. This strategy is practical even for very rare disorders, where it is infeasible to ascertain informative families. Importantly, the estimates of genetic correlations from genome-wide genotypes are derived using such distant relatives that contamination by shared environmental factors seems unlikely. However, any method that seeks to quantify the shared etiology of disorders assumes they can be distinguished diagnostically from one another without error. Here we investigate the impact of misdiagnosis on estimates of genetic correlation both from traditional family data and from genome-wide genotypes of case-control samples from unrelated individuals. Our analyses show similar results for levels of misdiagnosis in both types of data. In both scenarios, genetic variances and heritabilities tend to be slightly underestimated but genetic correlations are overestimated, sometimes substantially so. For example, two genetically distinct but equally heritable disorders each with prevalence 1%, can generate false-positive estimates of genetic correlations of >0.2 in the presence of 10% reciprocal misdiagnosis. Strategies for minimizing the effects of misdiagnosis in cross-disorder genetic studies are discussed.
Published: 2012
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41. Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

Author: Ferreira MA, McRae AF, Medland SE, Nyholt DR, Gordon SD, Wright MJ, Henders AK, Madden PA, Visscher PM, Wray NR, Heath AC, Montgomery GW, Duffy DL, and Martin NG
Subjects: Australia epidemiology, Chromosomes, Human, Pair 17 genetics, Cyclic Nucleotide Phosphodiesterases, Type 3 genetics, Cyclic Nucleotide Phosphodiesterases, Type 4, DNA Copy Number Variations, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Interleukin-1 Receptor-Like 1 Protein, Polymorphism, Single Nucleotide, Sequence Deletion genetics, Asthma epidemiology, Asthma genetics, Membrane Proteins genetics, Receptors, Cell Surface genetics
Abstract: Genome-wide association studies followed by replication provide a powerful approach to map genetic risk factors for asthma. We sought to search for new variants associated with asthma and attempt to replicate the association with four loci reported previously (ORMDL3, PDE4D, DENND1B and IL1RL1). Genome-wide association analyses of individual single nucleotide polymorphisms (SNPs), rare copy number variants (CNVs) and overall CNV burden were carried out in 986 asthma cases and 1846 asthma-free controls from Australia. The most-associated locus in the SNP analysis was ORMDL3 (rs6503525, P = 4.8 × 10⁻⁷). Five other loci were associated with P < 10⁻⁵, most notably the chemokine CXC motif ligand 14 (CXCL14) gene (rs31263, P = 7.8 × 10⁻⁶). We found no evidence for association with the specific risk variants reported recently for PDE4D, DENND1B and ILR1L1. However, a variant in IL1RL1 that is in low linkage disequilibrium with that reported previously was associated with asthma risk after accounting for all variants tested (rs10197862, gene wide P = 0.01). This association replicated convincingly in an independent cohort (P = 2.4 × 10⁻⁴). A 300-kb deletion on chromosome 17q21 was associated with asthma risk, but this did not reach experiment-wide significance. Asthma cases and controls had comparable CNV rates, length and number of genes affected by deletions or duplications. In conclusion, we confirm the association between asthma risk and variants in ORMDL3 and identify a novel risk variant in IL1RL1. Follow-up of the 17q21 deletion in larger cohorts is warranted.
Published: 2011
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42. Sporadic cases are the norm for complex disease.

Author: Yang J, Visscher PM, and Wray NR
Subjects: Female, Genome-Wide Association Study, Humans, Male, Pedigree, Genetic Diseases, Inborn genetics
Abstract: The results of genome-wide association studies have revealed that most human complex diseases (for example, cancer, diabetes and psychiatric disorders) are affected by a large number of variants, each of which explains a small increase in disease risk, suggesting a pattern of polygenic inheritance. At the same time, it has been argued that most complex diseases are genetically heterogeneous because many sporadic cases are observed, as well as cases with a family history. In this study, under the assumption of polygenic inheritance, we derive the expected proportion of sporadic cases using analytical methods and simulation. We show how the proportion of sporadic cases depends on disease prevalence (K) and heritability on the underlying liability scale (h(L)(2)). We predict the underlying heritability and the proportion of sporadic cases for a range of human complex diseases, and show that this proportion is typically large. For a disease with h(L)(2)=63% and K=0.4%, such as schizophrenia, >83% of proband cases are predicted to be sporadic (no affected first-, second- and third-degree relatives) in typical families (on an average, two children per couple). For the majority of these diseases, a large proportion of sporadic cases is expected under the polygenic model, implying that the observed large proportion of sporadic cases is not informative to the causal mechanism of a complex genetic disease.
Published: 2010
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43. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.

Author: Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, and Sklar P
Subjects: Alleles, Case-Control Studies, Europe, Female, Gene Frequency genetics, Genome, Human genetics, Genome-Wide Association Study, Humans, Major Histocompatibility Complex genetics, Male, Models, Genetic, Polymorphism, Single Nucleotide genetics, Bipolar Disorder genetics, Genetic Predisposition to Disease genetics, Genetic Variation genetics, Multifactorial Inheritance genetics, Schizophrenia genetics
Abstract: Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%. We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of schizophrenia. First, we implicate the major histocompatibility complex. Second, we provide molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases.
Published: 2009
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