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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 controls, 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 identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment. Genetic analysis of multiple bipolar disorder and schizophrenia cohorts reveals loci and polygenic risk scores that differentiate the clinical symptoms of these two highly correlated disorders.
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. - STAMPA. - 173:7(2018), pp. 1705-1715.e16. [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
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 controls, 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 identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potential treatment. Genetic analysis of multiple bipolar disorder and schizophrenia cohorts reveals loci and polygenic risk scores that differentiate the clinical symptoms of these two highly correlated disorders.
Descrizione: Figure S2: Figure S2. Related to Figure 1b. Regional Association Plot and Forest Plot for the Second Genome-wide Significant Hit in the SCZ vs BD GWAS.
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File Supplementare
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Descrizione: Figure S3. Related to Summary-data-based Mendelian Randomization. Detailed Association of DCAKD from SMR. Results at the DCAKD locus from SMR analysis of SCZ vs BD. Top plot, brown dots represent the P values for SNPs from SCZ vs BD GWAS, diamonds represent the P values for probes from the SMR test. Bottom plot, the eQTL P values of SNPs from the Westra study for the ILMN_1811648 probe tagging DCAKD. The top and bottom plots include all the SNPs available in the region in the GWAS and eQTL summary data, respectively, rather than only the SNPs common to both data sets. Highlighted in red is the gene (DCAKD) that passed the SMR and HEIDI tests.
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Descrizione: Figure S4: Figure S4. Related to Regional SNP-heritability estimation. Heritability Estimates for BD and SCZ in Genome-wide Significant Regions of BD and SCZ. Regional SNP-heritability estimates for SCZ and BD stratified by whether the region contains the most significant variant in a genome-wide significant locus in BD, SCZ, neither or both.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/659296
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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.