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IRIS
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 con-trols, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses iden-tified several significant correlations within case-only phenotypes including SCZ PRS with psychotic fea-tures and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components under-lying multiple symptom dimensions. These results point to the utility of genetics to inform symptomol-ogy and potential treatment.
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes / Ruderfer, Douglas M.; Ripke, Stephan; Mcquillin, Andrew; Boocock, James; Stahl, Eli A.; Pavlides, Jennifer M. Whitehead; Mullins, Niamh; Charney, Alexander W.; Ori, Anil P. S.; Loohuis, Loes M. Olde; Domenici, Enrico; Di Florio, Arianna; Papiol, Sergi; Kalman, Janos L.; Trubetskoy, Vassily; Adolfsson, Rolf; Agartz, Ingrid; Agerbo, Esben; Akil, Huda; Albani, Diego; Albus, Margot; Alda, Martin; Alexander, Madeline; Alliey-Rodriguez, Ney; Als, Thomas D.; Amin, Farooq; Anjorin, Adebayo; Arranz, Maria J.; Awasthi, Swapnil; Bacanu, Silviu A.; Badner, Judith A.; Baekvad-Hansen, Marie; Bakker, Steven; Band, Gavin; Barchas, Jack D.; Barroso, Ines; Bass, Nicholas; Bauer, Michael; Baune, Bernhard T.; Begemann, Martin; Bellenguez, Celine; Belliveau, Richard A.; Bellivier, Frank; Bender, Stephan; Bene, Judit; Bergen, Sarah E.; Berrettini, Wade H.; Bevilacqua, Elizabeth; Biernacka, Joanna M.; Bigdeli, Tim B.; Black, Donald W.; Blackburn, Hannah; Blackwell, Jenefer M.; Blackwood, Douglas H. R.; Pedersen, Carsten Bocker; Boehnke, Michael; Boks, Marco; Borglum, Anders D.; Bramon, Elvira; Breen, Gerome; Brown, Matthew A.; Bruggeman, Richard; Buccola, Nancy G.; Buckner, Randy L.; Budde, Monika; Bulik-Sullivan, Brendan; Bumpstead, Suzannah J.; Bunney, William; Burmeister, Margit; Buxbaum, Joseph D.; Bybjerg-Grauholm, Jonas; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J.; Campion, Dominique; Cantor, Rita M.; Carr, Vaughan J.; Carrera, Noa; Casas, Juan P.; Casas, Miquel; Catts, Stanley V.; Cervantes, Pablo; Chambert, Kimberley D.; Chan, Raymond C. K.; Chen, Eric Y. H.; Chen, Ronald Y. L.; Cheng, Wei; Cheung, Eric F. C.; Chong, Siow Ann; Clarke, Toni-Kim; Cloninger, C. Robert; Cohen, David; Cohen, Nadine; Coleman, Jonathan R. I.; Collier, David A.; Cormican, Paul; Coryell, William; Craddock, Nicholas; Craig, David W.; Crespo-Facorro, Benedicto; Crowley, James J.; Cruceanu, Cristiana; Curtis, David; Czerski, Piotr M.; Dale, Anders M.; Daly, Mark J.; Dannlowski, Udo; Darvasi, Ariel; Davidson, Michael; Davis, Kenneth L.; de Leeuw, Christiaan A.; Degenhardt, Franziska; Del Favero, Jurgen; Delisi, Lynn E.; Deloukas, Panos; Demontis, Ditte; Depaulo, J. Raymond; di Forti, Marta; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Dobbyn, Amanda L.; Donnelly, Peter; Donohoe, Gary; Drapeau, Elodie; Dronov, Serge; Duan, Jubao; Dudbridge, Frank; Duncanson, Audrey; Edenberg, Howard; Edkins, Sarah; Ehrenreich, Hannelore; Eichhammer, Peter; Elvsashagen, Torbjorn; Eriksson, Johan; Escott-Price, Valentina; Esko, Tonu; Essioux, Laurent; Etain, Bruno; Fan, Chun Chieh; Farh, Kai-How; Farrell, Martilias S.; Flickinger, Matthew; Foroud, Tatiana M.; Forty, Liz; Frank, Josef; Franke, Lude; Fraser, Christine; Freedman, Robert; Freeman, Colin; Freimer, Nelson B.; Friedman, Joseph I.; Fromer, Menachem; Frye, Mark A.; Fullerton, Janice M.; Gade, Katrin; Garnham, Julie; Gaspar, Helena A.; Gejman, Pablo V.; Genovese, Giulio; Georgieva, Lyudmila; Giambartolomei, Claudia; Giannoulatou, Eleni; Giegling, Ina; Gill, Michael; Gillman, Matthew; Pedersen, Marianne Giortz; Giusti-Rodriguez, Paola; Godard, Stephanie; Goes, Fernando; Goldstein, Jacqueline I.; Gopal, Srihari; Gordon, Scott D.; Gordon-Smith, Katherine; Gratten, Jacob; Gray, Emma; Green, Elaine K.; Green, Melissa J.; Greenwood, Tiffany A.; Grigoroiu-Serbanescu, Maria; Grove, Jakob; Guan, Weihua; Gurling, Hugh; Parra, Jose Guzman; Gwilliam, Rhian; de Haan, Lieuwe; Hall, Jeremy; Hall, Mei-Hua; Hammer, Christian; Hammond, Naomi; Hamshere, Marian L.; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M.; Hauser, Joanna; Hautzinger, Martin; Heilbronner, Urs; Hellenthal, Garrett; Henskens, Frans A.; Herms, Stefan; Hipolito, Maria; Hirschhorn, Joel N.; Hoffmann, Per; Hollegaard, Mads V.; Hougaard, David M.; Huang, Hailiang; Huckins, Laura; Hultman, Christina M.; Hunt, Sarah E.; Ikeda, Masashi; Iwata, Nakao; Iyegbe, Conrad; Jablensky, Assen V.; Jamain, Stephane; Jankowski, Janusz; Jayakumar, Alagurevathi; Joa, Inge; Jones, Ian; Jones, Lisa A.; Jonsson, Erik G.; Julia, Antonio; Jureus, Anders; Kahler, Anna K.; Kahn, Rene S.; Kalaydjieva, Luba; Kandaswamy, Radhika; Karachanak-Yankova, Sena; Karjalainen, Juha; Karlsson, Robert; Kavanagh, David; Keller, Matthew C.; Kelly, Brian J.; Kelsoe, John; Kennedy, James L.; Khrunin, Andrey; Kim, Yunjung; Kirov, George; Kittel-Schneider, Sarah; Klovins, Janis; Knight, Jo; Knott, Sarah V.; Knowles, James A.; Kogevinas, Manolis; Konte, Bettina; Kravariti, Eugenia; Kucinskas, Vaidutis; Kucinskiene, Zita Ausrele; Kupka, Ralph; Kuzelova-Ptackova, Hana; Landen, Mikael; Langford, Cordelia; Laurent, Claudine; Lawrence, Jacob; Lawrie, Stephen; Lawson, William B.; Leber, Markus; Leboyer, Marion; Lee, Phil H.; Keong, Jimmy Lee Chee; Legge, Sophie E.; Lencz, Todd; Lerer, Bernard; Levinson, Douglas F.; Levy, Shawn E.; Lewis, Cathryn M.; Li, Jun Z.; Li, Miaoxin; Li, Qingqin S.; Li, Tao; Liang, Kung-Yee; Liddle, Jennifer; Lieberman, Jeffrey; Limborska, Svetlana; Lin, Kuang; Linszen, Don H.; Lissowska, Jolanta; Liu, Chunyu; Liu, Jianjun; Lonnqvist, Jouko; Loughland, Carmel M.; Lubinski, Jan; Lucae, Susanne; Macek, Milan; Macintyre, Donald J.; Magnusson, Patrik K. E.; Maher, Brion S.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mallet, Jacques; Malt, Ulrik F.; Markus, Hugh S.; Marsal, Sara; Martin, Nicholas G.; Mata, Ignacio; Mathew, Christopher G.; Mattheisen, Manuel; Mattingsdal, Morten; Mayoral, Fermin; Mccann, Owen T.; Mccarley, Robert W.; Mccarroll, Steven A.; Mccarthy, Mark I.; Mcdonald, Colm; Mcelroy, Susan L.; Mcguffin, Peter; Mcinnis, Melvin G.; Mcintosh, Andrew M.; Mckay, James D.; Mcmahon, Francis J.; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Meijer, Carin J.; Melegh, Bela; Melle, Ingrid; Meng, Fan; Mesholam-Gately, Raquelle I.; Metspalu, Andres; Michie, Patricia T.; Milani, Lili; Milanova, Vihra; Mitchell, Philip B.; Mokrab, Younes; Montgomery, Grant W.; Moran, Jennifer L.; Morken, Gunnar; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Mowry, Bryan J.; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Murphy, Kieran C.; Murray, Robin M.; Myers, Richard M.; Myin-Germeys, Inez; Neale, Benjamin M.; Nelis, Mari; Nenadic, Igor; Nertney, Deborah A.; Nestadt, Gerald; Nicodemus, Kristin K.; Nievergelt, Caroline M.; Nikitina-Zake, Liene; Nimgaonkar, Vishwajit; Nisenbaum, Laura; Nordentoft, Merete; Nordin, Annelie; Nöthen, Markus M.; Nwulia, Evaristus A.; O'Callaghan, Eadbhard; O'Donovan, Claire; O'Dushlaine, Colm; O'Neill, F. Anthony; Oedegaard, Ketil J.; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; Oruc, Lilijana; Van Os, Jim; Owen, Michael J.; Paciga, Sara A.; Palmer, Colin N. A.; Palotie, Aarno; Pantelis, Christos; Papadimitriou, George N.; Parkhomenko, Elena; Pato, Carlos; Pato, Michele T.; Paunio, Tiina; Pearson, Richard; Perkins, Diana O.; Perlis, Roy H.; Perry, Amy; Pers, Tune H.; Petryshen, Tracey L.; Pfennig, Andrea; Picchioni, Marco; Pietilainen, Olli; Pimm, Jonathan; Pirinen, Matti; Plomin, Robert; Pocklington, Andrew J.; Posthuma, Danielle; Potash, James B.; Potter, Simon C.; Powell, John; Price, Alkes; Pulver, Ann E.; Purcell, Shaun M.; Quested, Digby; Ramos-Quiroga, Josep Antoni; Rasmussen, Henrik B.; Rautanen, Anna; Ravindrarajah, Radhi; Regeer, Eline J.; Reichenberg, Abraham; Reif, Andreas; Reimers, Mark A.; Ribases, Marta; Rice, John P.; Richards, Alexander L.; Ricketts, Michelle; Riley, Brien P.; Rivas, Fabio; Rivera, Margarita; Roffman, Joshua L.; Rouleau, Guy A.; Roussos, Panos; Rujescu, Dan; Salomaa, Veikko; Sanchez-Mora, Cristina; Sanders, Alan R.; Sawcer, Stephen J.; Schall, Ulrich; Schatzberg, Alan F.; Scheftner, William A.; Schofield, Peter R.; Schork, Nicholas J.; Schwab, Sibylle G.; Scolnick, Edward M.; Scott, Laura J.; Scott, Rodney J.; Seidman, Larry J.; Serretti, Alessandro; Sham, Pak C.; Weickert, Cynthia Shannon; Shehktman, Tatyana; Shi, Jianxin; Shilling, Paul D.; Sigurdsson, Engilbert; Silverman, Jeremy M.; Sim, Kang; Slaney, Claire; Slominsky, Petr; Smeland, Olav B.; Smoller, Jordan W.; So, Hon-Cheong; Sobell, Janet L.; Soderman, Erik; Hansen, Christine Soholm; Spencer, Chris C. A.; Spijker, Anne T.; St Clair, David; Stefansson, Hreinn; Stefansson, Kari; Steinberg, Stacy; Stogmann, Elisabeth; Stordal, Eystein; Strange, Amy; Straub, Richard E.; Strauss, John S.; Streit, Fabian; Strengman, Eric; Strohmaier, Jana; Stroup, T. Scott; Su, Zhan; Subramaniam, Mythily; Suvisaari, Jaana; Svrakic, Dragan M.; Szatkiewicz, Jin P.; Szelinger, Szabolcs; Tashakkori-Ghanbaria, Avazeh; Thirumalai, Srinivas; Thompson, Robert C.; Thorgeirsson, Thorgeir E.; Toncheva, Draga; Tooney, Paul A.; Tosato, Sarah; Toulopoulou, Timothea; Trembath, Richard C.; Treutlein, Jens; Turecki, Gustavo; Vaaler, Arne E.; Vedder, Helmut; Vieta, Eduard; Vincent, John; Visscher, Peter M.; Viswanathan, Ananth C.; Vukcevic, Damjan; Waddington, John; Waller, Matthew; Walsh, Dermot; Walshe, Muriel; Walters, James T. R.; Wang, Dai; Wang, Qiang; Wang, Weiqing; Wang, Yunpeng; Watson, Stanley J.; Webb, Bradley T.; Weickert, Thomas W.; Weinberger, Daniel R.; Weisbrod, Matthias; Weiser, Mark; Werge, Thomas; Weston, Paul; Whittaker, Pamela; Widaa, Sara; Wiersma, Durk; Wildenauer, Dieter B.; Williams, Nigel M.; Williams, Stephanie; Witt, Stephanie H.; Wolen, Aaron R.; Wong, Emily H. M.; Wood, Nicholas W.; Wormley, Brandon K.; Wu, Jing Qin; Xi, Simon; Xu, Wei; Young, Allan H.; Zai, Clement C.; Zandi, Peter; Zhang, Peng; Zheng, Xuebin; Zimprich, Fritz; Zollner, Sebastian; Corvin, Aiden; Fanous, Ayman H.; Cichon, Sven; Rietschel, Marcella; Gershon, Elliot S.; Schulze, Thomas G.; Cuellar-Barboza, Alfredo B.; Forstner, Andreas J.; Holmans, Peter A.; Nurnberger, John I.; Andreassen, Ole A.; Lee, S. Hong; O'Donovan, Michael C.; Sullivan, Patrick F.; Ophoff, Roel A.; Wray, Naomi R.; Sklar, Pamela; Kendler, Kenneth S.. - In: CELL. - ISSN 0092-8674. - 173:7(2018), pp. 1705-1715. [10.1016/j.cell.2018.05.046]
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
Ruderfer, Douglas M.;Ripke, Stephan;McQuillin, Andrew;Boocock, James;Stahl, Eli A.;Pavlides, Jennifer M. Whitehead;Mullins, Niamh;Charney, Alexander W.;Ori, Anil P. S.;Loohuis, Loes M. Olde;DOMENICI, Enrico;Di Florio, Arianna;Papiol, Sergi;Kalman, Janos L.;Trubetskoy, Vassily;Adolfsson, Rolf;Agartz, Ingrid;Agerbo, Esben;Akil, Huda;Albani, Diego;Albus, Margot;Alda, Martin;Alexander, Madeline;Alliey-Rodriguez, Ney;Als, Thomas D.;Amin, Farooq;Anjorin, Adebayo;Arranz, Maria J.;Awasthi, Swapnil;Bacanu, Silviu A.;Badner, Judith A.;Baekvad-Hansen, Marie;Bakker, Steven;Band, Gavin;Barchas, Jack D.;Barroso, Ines;Bass, Nicholas;Bauer, Michael;Baune, Bernhard T.;Begemann, Martin;Bellenguez, Celine;Belliveau, Richard A.;Bellivier, Frank;Bender, Stephan;Bene, Judit;Bergen, Sarah E.;Berrettini, Wade H.;Bevilacqua, Elizabeth;Biernacka, Joanna M.;Bigdeli, Tim B.;Black, Donald W.;Blackburn, Hannah;Blackwell, Jenefer M.;Blackwood, Douglas H. R.;Pedersen, Carsten Bocker;Boehnke, Michael;Boks, Marco;Borglum, Anders D.;Bramon, Elvira;Breen, Gerome;Brown, Matthew A.;Bruggeman, Richard;Buccola, Nancy G.;Buckner, Randy L.;Budde, Monika;Bulik-Sullivan, Brendan;Bumpstead, Suzannah J.;Bunney, William;Burmeister, Margit;Buxbaum, Joseph D.;Bybjerg-Grauholm, Jonas;Byerley, William;Cahn, Wiepke;Cai, Guiqing;Cairns, Murray J.;Campion, Dominique;Cantor, Rita M.;Carr, Vaughan J.;Carrera, Noa;Casas, Juan P.;Casas, Miquel;Catts, Stanley V.;Cervantes, Pablo;Chambert, Kimberley D.;Chan, Raymond C. K.;Chen, Eric Y. H.;Chen, Ronald Y. L.;Cheng, Wei;Cheung, Eric F. C.;Chong, Siow Ann;Clarke, Toni-Kim;Cloninger, C. Robert;Cohen, David;Cohen, Nadine;Coleman, Jonathan R. I.;Collier, David A.;Cormican, Paul;Coryell, William;Craddock, Nicholas;Craig, David W.;Crespo-Facorro, Benedicto;Crowley, James J.;Cruceanu, Cristiana;Curtis, David;Czerski, Piotr M.;Dale, Anders M.;Daly, Mark J.;Dannlowski, Udo;Darvasi, Ariel;Davidson, Michael;Davis, Kenneth L.;de Leeuw, Christiaan A.;Degenhardt, Franziska;Del Favero, Jurgen;DeLisi, Lynn E.;Deloukas, Panos;Demontis, Ditte;DePaulo, J. Raymond;di Forti, Marta;Dikeos, Dimitris;Dinan, Timothy;Djurovic, Srdjan;Dobbyn, Amanda L.;Donnelly, Peter;Donohoe, Gary;Drapeau, Elodie;Dronov, Serge;Duan, Jubao;Dudbridge, Frank;Duncanson, Audrey;Edenberg, Howard;Edkins, Sarah;Ehrenreich, Hannelore;Eichhammer, Peter;Elvsashagen, Torbjorn;Eriksson, Johan;Escott-Price, Valentina;Esko, Tonu;Essioux, Laurent;Etain, Bruno;Fan, Chun Chieh;Farh, Kai-How;Farrell, Martilias S.;Flickinger, Matthew;Foroud, Tatiana M.;Forty, Liz;Frank, Josef;Franke, Lude;Fraser, Christine;Freedman, Robert;Freeman, Colin;Freimer, Nelson B.;Friedman, Joseph I.;Fromer, Menachem;Frye, Mark A.;Fullerton, Janice M.;Gade, Katrin;Garnham, Julie;Gaspar, Helena A.;Gejman, Pablo V.;Genovese, Giulio;Georgieva, Lyudmila;Giambartolomei, Claudia;Giannoulatou, Eleni;Giegling, Ina;Gill, Michael;Gillman, Matthew;Pedersen, Marianne Giortz;Giusti-Rodriguez, Paola;Godard, Stephanie;Goes, Fernando;Goldstein, Jacqueline I.;Gopal, Srihari;Gordon, Scott D.;Gordon-Smith, Katherine;Gratten, Jacob;Gray, Emma;Green, Elaine K.;Green, Melissa J.;Greenwood, Tiffany A.;Grigoroiu-Serbanescu, Maria;Grove, Jakob;Guan, Weihua;Gurling, Hugh;Parra, Jose Guzman;Gwilliam, Rhian;de Haan, Lieuwe;Hall, Jeremy;Hall, Mei-Hua;Hammer, Christian;Hammond, Naomi;Hamshere, Marian L.;Hansen, Mark;Hansen, Thomas;Haroutunian, Vahram;Hartmann, Annette M.;Hauser, Joanna;Hautzinger, Martin;Heilbronner, Urs;Hellenthal, Garrett;Henskens, Frans A.;Herms, Stefan;Hipolito, Maria;Hirschhorn, Joel N.;Hoffmann, Per;Hollegaard, Mads V.;Hougaard, David M.;Huang, Hailiang;Huckins, Laura;Hultman, Christina M.;Hunt, Sarah E.;Ikeda, Masashi;Iwata, Nakao;Iyegbe, Conrad;Jablensky, Assen V.;Jamain, Stephane;Jankowski, Janusz;Jayakumar, Alagurevathi;Joa, Inge;Jones, Ian;Jones, Lisa A.;Jonsson, Erik G.;Julia, Antonio;Jureus, Anders;Kahler, Anna K.;Kahn, Rene S.;Kalaydjieva, Luba;Kandaswamy, Radhika;Karachanak-Yankova, Sena;Karjalainen, Juha;Karlsson, Robert;Kavanagh, David;Keller, Matthew C.;Kelly, Brian J.;Kelsoe, John;Kennedy, James L.;Khrunin, Andrey;Kim, Yunjung;Kirov, George;Kittel-Schneider, Sarah;Klovins, Janis;Knight, Jo;Knott, Sarah V.;Knowles, James A.;Kogevinas, Manolis;Konte, Bettina;Kravariti, Eugenia;Kucinskas, Vaidutis;Kucinskiene, Zita Ausrele;Kupka, Ralph;Kuzelova-Ptackova, Hana;Landen, Mikael;Langford, Cordelia;Laurent, Claudine;Lawrence, Jacob;Lawrie, Stephen;Lawson, William B.;Leber, Markus;Leboyer, Marion;Lee, Phil H.;Keong, Jimmy Lee Chee;Legge, Sophie E.;Lencz, Todd;Lerer, Bernard;Levinson, Douglas F.;Levy, Shawn E.;Lewis, Cathryn M.;Li, Jun Z.;Li, Miaoxin;Li, Qingqin S.;Li, Tao;Liang, Kung-Yee;Liddle, Jennifer;Lieberman, Jeffrey;Limborska, Svetlana;Lin, Kuang;Linszen, Don H.;Lissowska, Jolanta;Liu, Chunyu;Liu, Jianjun;Lonnqvist, Jouko;Loughland, Carmel M.;Lubinski, Jan;Lucae, Susanne;Macek, Milan;MacIntyre, Donald J.;Magnusson, Patrik K. E.;Maher, Brion S.;Mahon, Pamela B.;Maier, Wolfgang;Malhotra, Anil K.;Mallet, Jacques;Malt, Ulrik F.;Markus, Hugh S.;Marsal, Sara;Martin, Nicholas G.;Mata, Ignacio;Mathew, Christopher G.;Mattheisen, Manuel;Mattingsdal, Morten;Mayoral, Fermin;McCann, Owen T.;McCarley, Robert W.;McCarroll, Steven A.;McCarthy, Mark I.;McDonald, Colm;McElroy, Susan L.;McGuffin, Peter;McInnis, Melvin G.;McIntosh, Andrew M.;McKay, James D.;McMahon, Francis J.;Medeiros, Helena;Medland, Sarah E.;Meier, Sandra;Meijer, Carin J.;Melegh, Bela;Melle, Ingrid;Meng, Fan;Mesholam-Gately, Raquelle I.;Metspalu, Andres;Michie, Patricia T.;Milani, Lili;Milanova, Vihra;Mitchell, Philip B.;Mokrab, Younes;Montgomery, Grant W.;Moran, Jennifer L.;Morken, Gunnar;Morris, Derek W.;Mors, Ole;Mortensen, Preben B.;Mowry, Bryan J.;Mühleisen, Thomas W.;Müller-Myhsok, Bertram;Murphy, Kieran C.;Murray, Robin M.;Myers, Richard M.;Myin-Germeys, Inez;Neale, Benjamin M.;Nelis, Mari;Nenadic, Igor;Nertney, Deborah A.;Nestadt, Gerald;Nicodemus, Kristin K.;Nievergelt, Caroline M.;Nikitina-Zake, Liene;Nimgaonkar, Vishwajit;Nisenbaum, Laura;Nordentoft, Merete;Nordin, Annelie;Nöthen, Markus M.;Nwulia, Evaristus A.;O'Callaghan, Eadbhard;O'Donovan, Claire;O'Dushlaine, Colm;O'Neill, F. Anthony;Oedegaard, Ketil J.;Oh, Sang-Yun;Olincy, Ann;Olsen, Line;Oruc, Lilijana;Van Os, Jim;Owen, Michael J.;Paciga, Sara A.;Palmer, Colin N. A.;Palotie, Aarno;Pantelis, Christos;Papadimitriou, George N.;Parkhomenko, Elena;Pato, Carlos;Pato, Michele T.;Paunio, Tiina;Pearson, Richard;Perkins, Diana O.;Perlis, Roy H.;Perry, Amy;Pers, Tune H.;Petryshen, Tracey L.;Pfennig, Andrea;Picchioni, Marco;Pietilainen, Olli;Pimm, Jonathan;Pirinen, Matti;Plomin, Robert;Pocklington, Andrew J.;Posthuma, Danielle;Potash, James B.;Potter, Simon C.;Powell, John;Price, Alkes;Pulver, Ann E.;Purcell, Shaun M.;Quested, Digby;Ramos-Quiroga, Josep Antoni;Rasmussen, Henrik B.;Rautanen, Anna;Ravindrarajah, Radhi;Regeer, Eline J.;Reichenberg, Abraham;Reif, Andreas;Reimers, Mark A.;Ribases, Marta;Rice, John P.;Richards, Alexander L.;Ricketts, Michelle;Riley, Brien P.;Rivas, Fabio;Rivera, Margarita;Roffman, Joshua L.;Rouleau, Guy A.;Roussos, Panos;Rujescu, Dan;Salomaa, Veikko;Sanchez-Mora, Cristina;Sanders, Alan R.;Sawcer, Stephen J.;Schall, Ulrich;Schatzberg, Alan F.;Scheftner, William A.;Schofield, Peter R.;Schork, Nicholas J.;Schwab, Sibylle G.;Scolnick, Edward M.;Scott, Laura J.;Scott, Rodney J.;Seidman, Larry J.;Serretti, Alessandro;Sham, Pak C.;Weickert, Cynthia Shannon;Shehktman, Tatyana;Shi, Jianxin;Shilling, Paul D.;Sigurdsson, Engilbert;Silverman, Jeremy M.;Sim, Kang;Slaney, Claire;Slominsky, Petr;Smeland, Olav B.;Smoller, Jordan W.;So, Hon-Cheong;Sobell, Janet L.;Soderman, Erik;Hansen, Christine Soholm;Spencer, Chris C. A.;Spijker, Anne T.;St Clair, David;Stefansson, Hreinn;Stefansson, Kari;Steinberg, Stacy;Stogmann, Elisabeth;Stordal, Eystein;Strange, Amy;Straub, Richard E.;Strauss, John S.;Streit, Fabian;Strengman, Eric;Strohmaier, Jana;Stroup, T. Scott;Su, Zhan;Subramaniam, Mythily;Suvisaari, Jaana;Svrakic, Dragan M.;Szatkiewicz, Jin P.;Szelinger, Szabolcs;Tashakkori-Ghanbaria, Avazeh;Thirumalai, Srinivas;Thompson, Robert C.;Thorgeirsson, Thorgeir E.;Toncheva, Draga;Tooney, Paul A.;Tosato, Sarah;Toulopoulou, Timothea;Trembath, Richard C.;Treutlein, Jens;Turecki, Gustavo;Vaaler, Arne E.;Vedder, Helmut;Vieta, Eduard;Vincent, John;Visscher, Peter M.;Viswanathan, Ananth C.;Vukcevic, Damjan;Waddington, John;Waller, Matthew;Walsh, Dermot;Walshe, Muriel;Walters, James T. R.;Wang, Dai;Wang, Qiang;Wang, Weiqing;Wang, Yunpeng;Watson, Stanley J.;Webb, Bradley T.;Weickert, Thomas W.;Weinberger, Daniel R.;Weisbrod, Matthias;Weiser, Mark;Werge, Thomas;Weston, Paul;Whittaker, Pamela;Widaa, Sara;Wiersma, Durk;Wildenauer, Dieter B.;Williams, Nigel M.;Williams, Stephanie;Witt, Stephanie H.;Wolen, Aaron R.;Wong, Emily H. M.;Wood, Nicholas W.;Wormley, Brandon K.;Wu, Jing Qin;Xi, Simon;Xu, Wei;Young, Allan H.;Zai, Clement C.;Zandi, Peter;Zhang, Peng;Zheng, Xuebin;Zimprich, Fritz;Zollner, Sebastian;Corvin, Aiden;Fanous, Ayman H.;Cichon, Sven;Rietschel, Marcella;Gershon, Elliot S.;Schulze, Thomas G.;Cuellar-Barboza, Alfredo B.;Forstner, Andreas J.;Holmans, Peter A.;Nurnberger, John I.;Andreassen, Ole A.;Lee, S. Hong;O'Donovan, Michael C.;Sullivan, Patrick F.;Ophoff, Roel A.;Wray, Naomi R.;Sklar, Pamela;Kendler, Kenneth S.
2018-01-01
Abstract
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 bipolar disorder [BD], 33,426 schizophrenia [SCZ]) and 54,065 con-trols, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses iden-tified several significant correlations within case-only phenotypes including SCZ PRS with psychotic fea-tures and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components under-lying multiple symptom dimensions. These results point to the utility of genetics to inform symptomol-ogy and potential treatment.
Ruderfer, Douglas M.; Ripke, Stephan; Mcquillin, Andrew; Boocock, James; Stahl, Eli A.; Pavlides, Jennifer M. Whitehead; Mullins, Niamh; Charney, Alex...espandi
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes / Ruderfer, Douglas M.; Ripke, Stephan; Mcquillin, Andrew; Boocock, James; Stahl, Eli A.; Pavlides, Jennifer M. Whitehead; Mullins, Niamh; Charney, Alexander W.; Ori, Anil P. S.; Loohuis, Loes M. Olde; Domenici, Enrico; Di Florio, Arianna; Papiol, Sergi; Kalman, Janos L.; Trubetskoy, Vassily; Adolfsson, Rolf; Agartz, Ingrid; Agerbo, Esben; Akil, Huda; Albani, Diego; Albus, Margot; Alda, Martin; Alexander, Madeline; Alliey-Rodriguez, Ney; Als, Thomas D.; Amin, Farooq; Anjorin, Adebayo; Arranz, Maria J.; Awasthi, Swapnil; Bacanu, Silviu A.; Badner, Judith A.; Baekvad-Hansen, Marie; Bakker, Steven; Band, Gavin; Barchas, Jack D.; Barroso, Ines; Bass, Nicholas; Bauer, Michael; Baune, Bernhard T.; Begemann, Martin; Bellenguez, Celine; Belliveau, Richard A.; Bellivier, Frank; Bender, Stephan; Bene, Judit; Bergen, Sarah E.; Berrettini, Wade H.; Bevilacqua, Elizabeth; Biernacka, Joanna M.; Bigdeli, Tim B.; Black, Donald W.; Blackburn, Hannah; Blackwell, Jenefer M.; Blackwood, Douglas H. R.; Pedersen, Carsten Bocker; Boehnke, Michael; Boks, Marco; Borglum, Anders D.; Bramon, Elvira; Breen, Gerome; Brown, Matthew A.; Bruggeman, Richard; Buccola, Nancy G.; Buckner, Randy L.; Budde, Monika; Bulik-Sullivan, Brendan; Bumpstead, Suzannah J.; Bunney, William; Burmeister, Margit; Buxbaum, Joseph D.; Bybjerg-Grauholm, Jonas; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J.; Campion, Dominique; Cantor, Rita M.; Carr, Vaughan J.; Carrera, Noa; Casas, Juan P.; Casas, Miquel; Catts, Stanley V.; Cervantes, Pablo; Chambert, Kimberley D.; Chan, Raymond C. K.; Chen, Eric Y. H.; Chen, Ronald Y. L.; Cheng, Wei; Cheung, Eric F. C.; Chong, Siow Ann; Clarke, Toni-Kim; Cloninger, C. Robert; Cohen, David; Cohen, Nadine; Coleman, Jonathan R. I.; Collier, David A.; Cormican, Paul; Coryell, William; Craddock, Nicholas; Craig, David W.; Crespo-Facorro, Benedicto; Crowley, James J.; Cruceanu, Cristiana; Curtis, David; Czerski, Piotr M.; Dale, Anders M.; Daly, Mark J.; Dannlowski, Udo; Darvasi, Ariel; Davidson, Michael; Davis, Kenneth L.; de Leeuw, Christiaan A.; Degenhardt, Franziska; Del Favero, Jurgen; Delisi, Lynn E.; Deloukas, Panos; Demontis, Ditte; Depaulo, J. Raymond; di Forti, Marta; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Dobbyn, Amanda L.; Donnelly, Peter; Donohoe, Gary; Drapeau, Elodie; Dronov, Serge; Duan, Jubao; Dudbridge, Frank; Duncanson, Audrey; Edenberg, Howard; Edkins, Sarah; Ehrenreich, Hannelore; Eichhammer, Peter; Elvsashagen, Torbjorn; Eriksson, Johan; Escott-Price, Valentina; Esko, Tonu; Essioux, Laurent; Etain, Bruno; Fan, Chun Chieh; Farh, Kai-How; Farrell, Martilias S.; Flickinger, Matthew; Foroud, Tatiana M.; Forty, Liz; Frank, Josef; Franke, Lude; Fraser, Christine; Freedman, Robert; Freeman, Colin; Freimer, Nelson B.; Friedman, Joseph I.; Fromer, Menachem; Frye, Mark A.; Fullerton, Janice M.; Gade, Katrin; Garnham, Julie; Gaspar, Helena A.; Gejman, Pablo V.; Genovese, Giulio; Georgieva, Lyudmila; Giambartolomei, Claudia; Giannoulatou, Eleni; Giegling, Ina; Gill, Michael; Gillman, Matthew; Pedersen, Marianne Giortz; Giusti-Rodriguez, Paola; Godard, Stephanie; Goes, Fernando; Goldstein, Jacqueline I.; Gopal, Srihari; Gordon, Scott D.; Gordon-Smith, Katherine; Gratten, Jacob; Gray, Emma; Green, Elaine K.; Green, Melissa J.; Greenwood, Tiffany A.; Grigoroiu-Serbanescu, Maria; Grove, Jakob; Guan, Weihua; Gurling, Hugh; Parra, Jose Guzman; Gwilliam, Rhian; de Haan, Lieuwe; Hall, Jeremy; Hall, Mei-Hua; Hammer, Christian; Hammond, Naomi; Hamshere, Marian L.; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M.; Hauser, Joanna; Hautzinger, Martin; Heilbronner, Urs; Hellenthal, Garrett; Henskens, Frans A.; Herms, Stefan; Hipolito, Maria; Hirschhorn, Joel N.; Hoffmann, Per; Hollegaard, Mads V.; Hougaard, David M.; Huang, Hailiang; Huckins, Laura; Hultman, Christina M.; Hunt, Sarah E.; Ikeda, Masashi; Iwata, Nakao; Iyegbe, Conrad; Jablensky, Assen V.; Jamain, Stephane; Jankowski, Janusz; Jayakumar, Alagurevathi; Joa, Inge; Jones, Ian; Jones, Lisa A.; Jonsson, Erik G.; Julia, Antonio; Jureus, Anders; Kahler, Anna K.; Kahn, Rene S.; Kalaydjieva, Luba; Kandaswamy, Radhika; Karachanak-Yankova, Sena; Karjalainen, Juha; Karlsson, Robert; Kavanagh, David; Keller, Matthew C.; Kelly, Brian J.; Kelsoe, John; Kennedy, James L.; Khrunin, Andrey; Kim, Yunjung; Kirov, George; Kittel-Schneider, Sarah; Klovins, Janis; Knight, Jo; Knott, Sarah V.; Knowles, James A.; Kogevinas, Manolis; Konte, Bettina; Kravariti, Eugenia; Kucinskas, Vaidutis; Kucinskiene, Zita Ausrele; Kupka, Ralph; Kuzelova-Ptackova, Hana; Landen, Mikael; Langford, Cordelia; Laurent, Claudine; Lawrence, Jacob; Lawrie, Stephen; Lawson, William B.; Leber, Markus; Leboyer, Marion; Lee, Phil H.; Keong, Jimmy Lee Chee; Legge, Sophie E.; Lencz, Todd; Lerer, Bernard; Levinson, Douglas F.; Levy, Shawn E.; Lewis, Cathryn M.; Li, Jun Z.; Li, Miaoxin; Li, Qingqin S.; Li, Tao; Liang, Kung-Yee; Liddle, Jennifer; Lieberman, Jeffrey; Limborska, Svetlana; Lin, Kuang; Linszen, Don H.; Lissowska, Jolanta; Liu, Chunyu; Liu, Jianjun; Lonnqvist, Jouko; Loughland, Carmel M.; Lubinski, Jan; Lucae, Susanne; Macek, Milan; Macintyre, Donald J.; Magnusson, Patrik K. E.; Maher, Brion S.; Mahon, Pamela B.; Maier, Wolfgang; Malhotra, Anil K.; Mallet, Jacques; Malt, Ulrik F.; Markus, Hugh S.; Marsal, Sara; Martin, Nicholas G.; Mata, Ignacio; Mathew, Christopher G.; Mattheisen, Manuel; Mattingsdal, Morten; Mayoral, Fermin; Mccann, Owen T.; Mccarley, Robert W.; Mccarroll, Steven A.; Mccarthy, Mark I.; Mcdonald, Colm; Mcelroy, Susan L.; Mcguffin, Peter; Mcinnis, Melvin G.; Mcintosh, Andrew M.; Mckay, James D.; Mcmahon, Francis J.; Medeiros, Helena; Medland, Sarah E.; Meier, Sandra; Meijer, Carin J.; Melegh, Bela; Melle, Ingrid; Meng, Fan; Mesholam-Gately, Raquelle I.; Metspalu, Andres; Michie, Patricia T.; Milani, Lili; Milanova, Vihra; Mitchell, Philip B.; Mokrab, Younes; Montgomery, Grant W.; Moran, Jennifer L.; Morken, Gunnar; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Mowry, Bryan J.; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Murphy, Kieran C.; Murray, Robin M.; Myers, Richard M.; Myin-Germeys, Inez; Neale, Benjamin M.; Nelis, Mari; Nenadic, Igor; Nertney, Deborah A.; Nestadt, Gerald; Nicodemus, Kristin K.; Nievergelt, Caroline M.; Nikitina-Zake, Liene; Nimgaonkar, Vishwajit; Nisenbaum, Laura; Nordentoft, Merete; Nordin, Annelie; Nöthen, Markus M.; Nwulia, Evaristus A.; O'Callaghan, Eadbhard; O'Donovan, Claire; O'Dushlaine, Colm; O'Neill, F. Anthony; Oedegaard, Ketil J.; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; Oruc, Lilijana; Van Os, Jim; Owen, Michael J.; Paciga, Sara A.; Palmer, Colin N. 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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.