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1. Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder

Author: Hasin, Naushaba, Riggs, Lace M., Shekhtman, Tatyana, Ashworth, Justin, Lease, Robert, Oshone, Rediet T., Humphries, Elizabeth M., Badner, Judith A., Thomson, Pippa A., Glahn, David C., Craig, David W., Edenberg, Howard J., Gershon, Elliot S., McMahon, Francis J., Nurnberger, John I., Zandi, Peter P., Kelsoe, John R., Roach, Jared C., Gould, Todd D., and Ament, Seth A.
Published: 2022
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2. Genome-wide association study identifies 30 loci associated with bipolar disorder

Author: Stahl, Eli A, Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan RI, Gaspar, Héléna A, de Leeuw, Christiaan A, Steinberg, Stacy, Pavlides, Jennifer M Whitehead, Trzaskowski, Maciej, Byrne, Enda M, Pers, Tune H, Holmans, Peter A, Richards, Alexander L, Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Bækvad-Hansen, Marie, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W, Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Djurovic, Srdjan, Dobbyn, Amanda L, Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B, Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Guzman-Parra, José, Hamshere, Marian L, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S, and Juréus, Anders
Subjects: Biological Sciences, Genetics, Mental Health, Mental Illness, Human Genome, Biotechnology, Bipolar Disorder, Brain Disorders, Schizophrenia, Serious Mental Illness, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Mental health, Case-Control Studies, Depressive Disorder, Major, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide, Psychotic Disorders, Systems Biology, eQTLGen Consortium, BIOS Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P
Published: 2019

3. Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes

Author: Drange, Ole Kristian, Smeland, Olav Bjerkehagen, Shadrin, Alexey A, Finseth, Per Ivar, Witoelar, Aree, Frei, Oleksandr, Group, Psychiatric Genomics Consortium Bipolar Disorder Working, Wang, Yunpeng, Hassani, Sahar, Djurovic, Srdjan, Dale, Anders M, Andreassen, Ole A, Stahl, Eli A, Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Coleman, Jonathan RI, Gaspar, Heìleìna A, de Leeuw, Christiaan A, Steinberg, Stacy, Pavlides, Jennifer M Whitehead, Trzaskowski, Maciej, Pers, Tune H, Holmans, Peter A, Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Bækvad-Hansen, Marie, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W, Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M, de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Dobbyn, Amanda L, Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B, Friseìn, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Parra, Joseì Guzman, and Hamshere, Marian L
Subjects: Biotechnology, Neurosciences, Acquired Cognitive Impairment, Human Genome, Aging, Genetics, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Neurodegenerative, Alzheimer's Disease, Aetiology, 2.1 Biological and endogenous factors, Alzheimer's disease, bipolar disorder, GWAS, pleiotropy, cognitive symptoms, affective symptoms, MARK2, VAC14, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Alzheimer’s disease, Psychology, Cognitive Sciences
Abstract: Background: Alzheimer's disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. However, it is not established if this relation is of genetic origin. Here, we applied statistical methods based on the conditional false discovery rate (FDR) framework to detect genetic overlap between AD and BIP and utilized this overlap to increase the power to identify common genetic variants associated with either or both traits. Methods: We obtained genome wide association studies data from the International Genomics of Alzheimer's Project part 1 (17,008 AD cases and 37,154 controls) and the Psychiatric Genetic Consortium Bipolar Disorder Working Group (20,352 BIP cases and 31,358 controls). We used conditional QQ-plots to assess overlap in common genetic variants between AD and BIP. We exploited the genetic overlap to re-rank test-statistics for AD and BIP and improve detection of genetic variants using the conditional FDR framework. Results: Conditional QQ-plots demonstrated a polygenic overlap between AD and BIP. Using conditional FDR, we identified one novel genomic locus associated with AD, and nine novel loci associated with BIP. Further, we identified two novel loci jointly associated with AD and BIP implicating the MARK2 gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the VAC14 gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect). Conclusion: We found polygenic overlap between AD and BIP and identified novel loci for each trait and two jointly associated loci. Further studies should examine if the shared loci implicating the MARK2 and VAC14 genes could explain parts of the shared and distinct features of AD and BIP.
Published: 2019

4. Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics.

Author: Breuer, René, Mattheisen, Manuel, Frank, Josef, Krumm, Bertram, Treutlein, Jens, Kassem, Layla, Strohmaier, Jana, Herms, Stefan, Mühleisen, Thomas, Degenhardt, Franziska, Cichon, Sven, Nöthen, Markus, Karypis, George, Kelsoe, John, Greenwood, Tiffany, Nievergelt, Caroline, Shilling, Paul, Shekhtman, Tatyana, Edenberg, Howard, Craig, David, Szelinger, Szabolcs, Nurnberger, John, Gershon, Elliot, Alliey-Rodriguez, Ney, Zandi, Peter, Goes, Fernando, Schork, Nicholas, Smith, Erin, Koller, Daniel, Zhang, Peng, Badner, Judith, Berrettini, Wade, Bloss, Cinnamon, Byerley, William, Coryell, William, Foroud, Tatiana, Guo, Yirin, Hipolito, Maria, Keating, Brendan, Lawson, William, Liu, Chunyu, Mahon, Pamela, McInnis, Melvin, Murray, Sarah, Nwulia, Evaristus, Potash, James, Rice, John, Scheftner, William, Zöllner, Sebastian, McMahon, Francis, Rietschel, Marcella, and Schulze, Thomas
Subjects: Bipolar disorder, Data mining, Genotype–phenotype patterns, Rule discovery, Subphenotypes
Abstract: BACKGROUND: Disentangling the etiology of common, complex diseases is a major challenge in genetic research. For bipolar disorder (BD), several genome-wide association studies (GWAS) have been performed. Similar to other complex disorders, major breakthroughs in explaining the high heritability of BD through GWAS have remained elusive. To overcome this dilemma, genetic research into BD, has embraced a variety of strategies such as the formation of large consortia to increase sample size and sequencing approaches. Here we advocate a complementary approach making use of already existing GWAS data: a novel data mining procedure to identify yet undetected genotype-phenotype relationships. We adapted association rule mining, a data mining technique traditionally used in retail market research, to identify frequent and characteristic genotype patterns showing strong associations to phenotype clusters. We applied this strategy to three independent GWAS datasets from 2835 phenotypically characterized patients with BD. In a discovery step, 20,882 candidate association rules were extracted. RESULTS: Two of these rules-one associated with eating disorder and the other with anxiety-remained significant in an independent dataset after robust correction for multiple testing. Both showed considerable effect sizes (odds ratio ~ 3.4 and 3.0, respectively) and support previously reported molecular biological findings. CONCLUSION: Our approach detected novel specific genotype-phenotype relationships in BD that were missed by standard analyses like GWAS. While we developed and applied our method within the context of BD gene discovery, it may facilitate identifying highly specific genotype-phenotype relationships in subsets of genome-wide data sets of other complex phenotype with similar epidemiological properties and challenges to gene discovery efforts.
Published: 2018

5. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Author: Consortium, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics, Ruderfer, Douglas M, Ripke, Stephan, McQuillin, Andrew, Boocock, James, Stahl, Eli A, Pavlides, Jennifer M Whitehead, Mullins, Niamh, Charney, Alexander W, Ori, Anil PS, 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 HR, 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 CK, Chen, Eric YH, Chen, Ronald YL, Cheng, Wei, Cheung, Eric FC, Chong, Siow Ann, Clarke, Toni-Kim, Cloninger, C Robert, Cohen, David, Cohen, Nadine, Coleman, Jonathan RI, Collier, David A, Cormican, Paul, Coryell, William, and Craddock, Nicholas
Subjects: Human Genome, Neurosciences, Serious Mental Illness, Bipolar Disorder, Biotechnology, Schizophrenia, Brain Disorders, Genetics, Mental Health, Mental health, Good Health and Well Being, Case-Control Studies, Genetic Loci, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Odds Ratio, Phenotype, Risk, White People, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium, bipolar disorder, polygenic risk, psychosis, schizophrenia, subphenotypes, Biological Sciences, Medical and Health Sciences, Developmental Biology
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.
Published: 2018

6. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

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, Richard A., Jr., 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, 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, 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, Lee Chee Keong, 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, Jr., 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., 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, 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., 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., Periyasamy, Sathish, Cairns, Murray J., Tooney, Paul A., Wu, Jing Qin, Kelly, Brian, 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, St Clair, David, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., Sullivan, Patrick F., O’Donovan, Michael C., Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M., Brown, Matthew A., Casas, Juan 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., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Giannoulatou, Eleni, Hellenthal, Garrett, Pearson, Richard, Pirinen, Matti, Strange, Amy, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Blackburn, Hannah, Bumpstead, Suzannah J., Dronov, Serge, Edkins, Sarah, Gillman, Matthew, Gray, Emma, Gwilliam, Rhian, Hammond, Naomi, Hunt, Sarah E., Jayakumar, Alagurevathi, Liddle, Jennifer, McCann, Owen T., Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Tashakkori-Ghanbaria, Avazeh, Waller, Matthew, Weston, Paul, Whittaker, Pamela, Widaa, Sara, McCarthy, Mark I., Arranz, Maria J., Bakker, Steven, Bender, Stephan, Crespo-Facorro, Benedicto, Hall, Jeremy, Iyegbe, Conrad, Lawrie, Stephen, Lewis, Cathryn M., Lin, Kuang, Linszen, Don H., Mata, Ignacio, Walshe, Muriel, Weisbrod, Matthias, Wiersma, Durk, Breen, Gerome, Forstner, Andreas J., Trubetskoy, Vassily, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., de Leeuw, Christiaan A., Whitehead Pavlides, Jennifer M., Trzaskowski, Maciej, Byrne, Enda M., Abbott, Liam, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P., Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Del-Favero, Jurgen, DePaulo, J. Raymond, Dobbyn, Amanda L., Dumont, Ashley, Elvsåshagen, Torbjørn, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Fraser, Christine, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Guzman-Parra, José, Hautzinger, Martin, Heilbronner, Urs, Hipolito, Maria, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Kandaswamy, Radhika, Karlsson, Robert, Kittel-Schneider, Sarah, Kogevinas, Manolis, Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Montgomery, Grant W., Mühleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O'Donovan, Claire, Olde Loohuis, Loes M., Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Rivas, Fabio, Rivera, Margarita, Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Spijker, Anne T., Steffens, Michael, Strauss, John S., Streit, Fabian, Szelinger, Szabolcs, Thompson, Robert C., Thorgeirsson, Thorgeir E., Treutlein, Jens, Vedder, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zöllner, Sebastian, Abdellaoui, Abdel, Adams, Mark J., Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu-Alin, Beekman, Aartjan T.F., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Colodro-Conde, Lucía, Couvy-Duchesne, Baptiste, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Derks, Eske M., Direk, Nese, Dolan, Conor V., Dunn, Erin C., Eley, Thalia C., Hassan Kiadeh, Farnush Farhadi, Finucane, Hilary K., Foo, Jerome C., Goes, Fernando S., Hall, Lynsey S., Hansen, Thomas F., Hickie, Ian B., Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Howard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., MacKinnon, Dean F., Maier, Robert M., Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Mondimore, Francis M., Mostafavi, Sara, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Painter, Jodie N., Peterson, Roseann E., Peyrot, Wouter J., Pistis, Giorgio, Quiroz, Jorge A., Qvist, Per, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shyn, Stanley I., Sinnamon, Grant C.B., Smit, Johannes H., Smith, Daniel J., Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Traylor, Matthew, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret I., Dannlowski, Udo, de Geus, Eco J.C., Domschke, Katharina, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kloiber, Stefan, Lewis, Glyn, Madden, Pamela AF., Magnusson, Patrik K., Martin, Nicholas G., Mortensen, Preben Bo, Nordentoft, Merete, O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W.J.H., Porteous, David J., Preisig, Martin, Schaefer, Catherine, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Alda, Martin, Blokland, Gabriëlla A.M., Bortolato, Marco, Bralten, Janita, Bulik, Cynthia M., Burton, Christie L., Carey, Caitlin E., Davis, Lea K., Duncan, Laramie E., Edenberg, Howard J., Erdman, Lauren, Faraone, Stephen V., Goldstein, Jill M., Goleva, Slavina B., Guo, Wei, Hübel, Christopher, Huckins, Laura M., Khramtsova, Ekaterina A., Martin, Joanna, Mathews, Carol A., Robinson, Elise, Stahl, Eli, Stranger, Barbara E., Traglia, Michela, Walters, Raymond K., Weiss, Lauren A., Winham, Stacey J., Yao, Yin, Skajaa, Kristjar, Nöthen, Markus, Owen, Michael, Yolken, Robert H., Plath, Niels, Mill, Jonathan, Geschwind, Daniel, Chen, Chia-Yen, Cotsapas, Chris, Tobet, Stuart, Handa, Robert, Steixner-Kumar, Agnes, Lee, Jimmy, Molden, Espen, Bass, Nicholas J., Fullerton, Janice M., Mitchell, Philip B., Schofield, Peter R., Schaupp, Sabrina, Comes, Ashley L., Sirignano, Lea, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Lissowska, Jolanta, Mayoral, Fermin, Świątkowska, Beata, Kelsoe, John, Leboyer, Marion, Etain, Bruno, Bellivier, Frank, Vincent, John B., O’Donovan, Claire, Biernacka, Joanna M., Frye, Mark, McElroy, Susan L., Scott, Laura J., Landén, Mikael, Vaaler, Arne E., Air, Tracy, and Völker, Uwe
Published: 2022
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7. Genome-Wide Linkage Study Meta-Analysis of Male Sexual Orientation

Author: Sanders, Alan R., Beecham, Gary W., Guo, Shengru, Badner, Judith A., Bocklandt, Sven, Mustanski, Brian S., Hamer, Dean H., and Martin, Eden R.
Published: 2021
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8. The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls

Author: Byrne, Enda M., Forstner, Andreas J., Holmans, Peter A., de Leeuw, Christiaan A., Mattheisen, Manuel, McQuillin, Andrew, Whitehead Pavlides, Jennifer M., Pers, Tune H., Ripke, Stephan, Stahl, Eli A., Steinberg, Stacy, Trubetskoy, Vassily, Trzaskowski, Maciej, Wang, Yunpeng, Abbott, Liam, Abdellaoui, Abdel, Adams, Mark J., Adolfsson, Annelie Nordin, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Andlauer, Till F.M., Anjorin, Adebayo, Antilla, Verneri, Van der Auwera, Sandra, Awasthi, Swapnil, Bacanu, Silviu-Alin, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Beekman, Aartjan T.F., Belliveau, Richard, Bergen, Sarah E., Bigdeli, Tim B., Binder, Elisabeth B., Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Byerley, William, Cai, Na, Casas, Miquel, Castelao, Enrique, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Christensen, Jane Hvarregaard, Churchhouse, Claire, St Clair, David, Clarke, Toni-Kim, Colodro-Conde, Lucía, Coryell, William, Couvy-Duchesne, Baptiste, Craig, David W., Crawford, Gregory E., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Derks, Eske M., Direk, Nese, Djurovic, Srdjan, Dobbyn, Amanda L., Dolan, Conor V., Dumont, Ashley, Dunn, Erin C., Eley, Thalia C., Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Finucane, Hilary K., Fischer, Sascha B., Flickinger, Matthew, Foo, Jerome C., Foroud, Tatiana M., Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Goes, Fernando S., Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Hall, Lynsey S., Hamshere, Marian L., Hansen, Christine Søholm, Hansen, Thomas F., Hautzinger, Martin, Heilbronner, Urs, van Hemert, Albert M., Herms, Stefan, Hickie, Ian B., Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Huckins, Laura, Ising, Marcus, Jamain, Stéphane, Jansen, Rick, Johnson, Jessica S., de Jong, Simone, Jorgenson, Eric, Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Hassan Kiadeh, Farnush Farhadi, Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Kohane, Isaac S., Koller, Anna C., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kupka, Ralph, Kutalik, Zoltán, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Li, Yihan, Lind, Penelope A., Liu, Chunyu, Olde Loohuis, Loes M., Maaser, Anna, MacIntyre, Donald J., MacKinnon, Dean F., Mahon, Pamela B., Maier, Wolfgang, Maier, Robert M., Marchini, Jonathan, Martinsson, Lina, Mbarek, Hamdi, McCarroll, Steve, McGrath, Patrick, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Mehta, Divya, Meng, Fan, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mirza, Saira Saeed, Mondimore, Francis M., Montgomery, Grant W., Morris, Derek W., Mostafavi, Sara, Mühleisen, Thomas W., Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nguyen, Hoang, Nievergelt, Caroline M., Nivard, Michel G., Nwulia, Evaristus A., Nyholt, Dale R., O'Donovan, Claire, O'Reilly, Paul F., Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Oskarsson, Hogni, Painter, Jodie N., Parra, José Guzman, Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Perry, Amy, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pfennig, Andrea, Pistis, Giorgio, Purcell, Shaun M., Quiroz, Jorge A., Qvist, Per, Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Riley, Brien P., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schoevers, Robert, Schork, Nicholas J., Schulte, Eva C., Shehktman, Tatyana, Shen, Ling, Shi, Jianxin, Shilling, Paul D., Shyn, Stanley I., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Smit, Johannes H., Smith, Daniel J., Sobell, Janet L., Spijker, Anne T., Steffens, Michael, Strauss, John S., Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Robert C., Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Uitterlinden, André G., Umbricht, Daniel, Vedder, Helmut, Viktorin, Alexander, Visscher, Peter M., Wang, Weiqing, Watson, Stanley J., Webb, Bradley T., Weickert, Cynthia Shannon, Weickert, Thomas W., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Xu, Wei, Yang, Jian, Young, Allan H., Zandi, Peter, Zhang, Peng, Zhang, Futao, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Arolt, Volker, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berger, Klaus, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Boomsma, Dorret I., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gershon, Elliot S., de Geus, E.J.C., Gill, Michael, Goes, Fernando, Grabe, Hans J., Grigoroiu-Serbanescu, Maria, Hamilton, Steven P., Hauser, Joanna, Hayward, Caroline, Heath, Andrew C., Hougaard, David M., Hultman, Christina M., Jones, Ian, Jones, Lisa A., Kahn, René S., Kendler, Kenneth S., Kirov, George, Kloiber, Stefan, Landén, Mikael, Leboyer, Marion, Lewis, Glyn, Li, Qingqin S., Lissowska, Jolanta, Lucae, Susanne, Madden, Pamela A.F., Magnusson, Patrik K., Martin, Nicholas G., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Oedegaard, Ketil J., Owen, Michael J., Paciga, Sara A., Pato, Carlos, Pato, Michele T., Pedersen, Nancy L., Penninx, Brenda W.J. H., Perlis, Roy H., Porteous, David J., Posthuma, Danielle, Potash, James B., Preisig, Martin, Ramos-Quiroga, Josep Antoni, Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A., Schaefer, Catherine, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Serretti, Alessandro, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Tiemeier, Henning, Turecki, Gustavo, Uher, Rudolf, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Andreassen, Ole A., Børglum, Anders D., Cichon, Sven, Edenberg, Howard J., Di Florio, Arianna, Kelsoe, John, Levinson, Douglas F., Lewis, Cathryn M., Nurnberger, John I., Ophoff, Roel A., Scott, Laura J., Sklar, Pamela, Sullivan, Patrick F., Wray, Naomi R., Coleman, Jonathan R.I., Gaspar, Héléna A., Bryois, Julien, and Breen, Gerome
Published: 2020
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9. Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

Author: Hou, Liping, Bergen, Sarah E, Akula, Nirmala, Song, Jie, Hultman, Christina M, Landén, Mikael, Adli, Mazda, Alda, Martin, Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Backlund, Lena, Badner, Judith A, Barrett, Thomas B, Bauer, Michael, Baune, Bernhard T, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Berrettini, Wade H, Bhattacharjee, Abesh Kumar, Biernacka, Joanna M, Birner, Armin, Bloss, Cinnamon S, Brichant-Petitjean, Clara, Bui, Elise T, Byerley, William, Cervantes, Pablo, Chillotti, Caterina, Cichon, Sven, Colom, Francesc, Coryell, William, Craig, David W, Cruceanu, Cristiana, Czerski, Piotr M, Davis, Tony, Dayer, Alexandre, Degenhardt, Franziska, Del Zompo, Maria, DePaulo, J Raymond, Edenberg, Howard J, Étain, Bruno, Falkai, Peter, Foroud, Tatiana, Forstner, Andreas J, Frisén, Louise, Frye, Mark A, Fullerton, Janice M, Gard, Sébastien, Garnham, Julie S, Gershon, Elliot S, Goes, Fernando S, Greenwood, Tiffany A, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Heilbronner, Urs, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hipolito, Maria, Hitturlingappa, Shashi, Hoffmann, Per, Hofmann, Andrea, Jamain, Stephane, Jiménez, Esther, Kahn, Jean-Pierre, Kassem, Layla, Kelsoe, John R, Kittel-Schneider, Sarah, Kliwicki, Sebastian, Koller, Daniel L, König, Barbara, Lackner, Nina, Laje, Gonzalo, Lang, Maren, Lavebratt, Catharina, Lawson, William B, Leboyer, Marion, Leckband, Susan G, Liu, Chunyu, Maaser, Anna, Mahon, Pamela B, Maier, Wolfgang, Maj, Mario, Manchia, Mirko, Martinsson, Lina, McCarthy, Michael J, McElroy, Susan L, McInnis, Melvin G, McKinney, Rebecca, Mitchell, Philip B, Mitjans, Marina, Mondimore, Francis M, Monteleone, Palmiero, Mühleisen, Thomas W, Nievergelt, Caroline M, Nöthen, Markus M, Novák, Tomas, Nurnberger, John I, Nwulia, Evaristus A, and Ösby, Urban
Subjects: Genetics, Mental Health, Clinical Research, Human Genome, Bipolar Disorder, Prevention, Brain Disorders, Serious Mental Illness, Mental health, Good Health and Well Being, Chromosomes, Human, X, Female, Genome-Wide Association Study, Humans, Male, Receptor, ErbB-2, Receptor, erbB-2, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract: Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ∼2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the X-chromosome. In addition to four known loci, results revealed genome-wide significant associations at two novel loci: an intergenic region on 9p21.3 (rs12553324, P = 5.87 × 10 - 9; odds ratio (OR) = 1.12) and markers within ERBB2 (rs2517959, P = 4.53 × 10 - 9; OR = 1.13). No significant X-chromosome associations were detected and X-linked markers explained very little BD heritability. The results add to a growing list of common autosomal variants involved in BD and illustrate the power of comparing well-characterized cases to an excess of controls in GWAS.
Published: 2016

10. Neuropsychological and dimensional behavioral trait profiles in Costa Rican ADHD sib pairs: Potential intermediate phenotypes for genetic studies.

Author: Peskin, Viviana A, Ordóñez, Anna, Mackin, R Scott, Delucchi, Kevin, Monge, Silvia, McGough, James J, Chavira, Denise A, Berrocal, Monica, Cheung, Erika, Fournier, Eduardo, Badner, Judith A, Herrera, Luis Diego, and Mathews, Carol A
Subjects: Humans, Genetic Predisposition to Disease, Factor Analysis, Statistical, Pedigree, Behavior, Siblings, Cognition, Attention Deficit Disorder with Hyperactivity, Neuropsychological Tests, Inheritance Patterns, Phenotype, Principal Component Analysis, Models, Genetic, Adolescent, Adult, Child, Costa Rica, Female, Male, Young Adult, ADHD, cognitive, endophenotypes, heritability, pedigrees, Genetics, Clinical Sciences, Neurosciences
Abstract: Attention deficit hyperactivity disorder (ADHD) is associated with substantial functional impairment in children and in adults. Many individuals with ADHD have clear neurocognitive deficits, including problems with visual attention, processing speed, and set shifting. ADHD is etiologically complex, and although genetic factors play a role in its development, much of the genetic contribution to ADHD remains unidentified. We conducted clinical and neuropsychological assessments of 294 individuals (269 with ADHD) from 163 families (48 multigenerational families created using genealogical reconstruction, 78 affected sib pair families, and 37 trios) from the Central Valley of Costa Rica (CVCR). We used principal components analysis (PCA) to group neurocognitive and behavioral variables using the subscales of the Child Behavior Checklist (CBCL) and 15 neuropsychological measures, and created quantitative traits for heritability analyses. We identified seven cognitive and two behavioral domains. Individuals with ADHD were significantly more impaired than their unaffected siblings on most behavioral and cognitive domains. The verbal IQ domain had the highest heritability (92%), followed by auditory attention (87%), visual processing speed and problem solving (85%), and externalizing symptoms (81%). The quantitative traits identified here have high heritabilities, similar to the reported heritability of ADHD (70-90%), and may represent appropriate alternative phenotypes for genetic studies. The use of multigenerational families from a genetically isolated population may facilitate the identification of ADHD risk genes in the face of phenotypic and genetic heterogeneity.
Published: 2015

11. Rare variants in neuronal excitability genes influence risk for bipolar disorder

Author: Ament, Seth A, Szelinger, Szabolcs, Glusman, Gustavo, Ashworth, Justin, Hou, Liping, Akula, Nirmala, Shekhtman, Tatyana, Badner, Judith A, Brunkow, Mary E, Mauldin, Denise E, Stittrich, Anna-Barbara, Rouleau, Katherine, Detera-Wadleigh, Sevilla D, Nurnberger, John I, Edenberg, Howard J, Gershon, Elliot S, Schork, Nicholas, Price, Nathan D, Gelinas, Richard, Hood, Leroy, Craig, David, McMahon, Francis J, Kelsoe, John R, Roach, Jared C, Greenwood, Tiffany A, Nievergelt, Caroline M, Shilling, Paul D, Foroud, Tatiana, Koller, Daniel L, Liu, Chunyu, Scheftner, William A, Lawson, William B, Coryell, William, Potash, James B, Rice, John, Byerley, William, Berrettini, Wade H, Zandi, Peter P, McInnis, Melvin G, Craig, David W, Schulze, Thomas G, Schork, Nicholas J, and Quarless, Danjuma
Subjects: Human Genome, Mental Health, Genetics, Bipolar Disorder, Prevention, Brain Disorders, Neurosciences, Serious Mental Illness, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Neurons, Pedigree, Polymorphism, Single Nucleotide, Risk Factors, Signal Transduction, White People, bipolar disorder, family genomics, regulatory variants, GABA(A) receptor, voltage-gated calcium channel, Bipolar Genome Study, GABAA receptor
Abstract: We sequenced the genomes of 200 individuals from 41 families multiply affected with bipolar disorder (BD) to identify contributions of rare variants to genetic risk. We initially focused on 3,087 candidate genes with known synaptic functions or prior evidence from genome-wide association studies. BD pedigrees had an increased burden of rare variants in genes encoding neuronal ion channels, including subunits of GABAA receptors and voltage-gated calcium channels. Four uncommon coding and regulatory variants also showed significant association, including a missense variant in GABRA6. Targeted sequencing of 26 of these candidate genes in an additional 3,014 cases and 1,717 controls confirmed rare variant associations in ANK3, CACNA1B, CACNA1C, CACNA1D, CACNG2, CAMK2A, and NGF. Variants in promoters and 5' and 3' UTRs contributed more strongly than coding variants to risk for BD, both in pedigrees and in the case-control cohort. The genes and pathways identified in this study regulate diverse aspects of neuronal excitability. We conclude that rare variants in neuronal excitability genes contribute to risk for BD.
Published: 2015

12. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author: Jacobsen, Kaya K, Nievergelt, Caroline M, Zayats, Tetyana, Greenwood, Tiffany A, Anttila, Verneri, Akiskal, Hagop S, Consortium, BiGS, Consortium, IHG, include:, BiGS Consortium Co-Authors, Kelsoe, John R, McKinney, Rebecca, Shilling, Paul D, Smith, Erin N, Schork, Nicholas J, Bloss, Cinnamon S, Nurnberger, John I, Edenberg, Howard J, Foroud, Tatiana, Koller, Daniel L, Gershon, Elliot S, Badner, Judith A, Liu, Chunyu, Scheftner, William A, Lawson, William B, Nwulia, Evaristus A, Hipolito, Maria, Potash, James, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J, Berrettini, Wade H, Zandi, Peter P, Mahon, Pamela B, McInnis, Melvin G, Zöllner, Sebastian, Zhang, Peng, Craig, David W, Szelinger, Szabolics, Barrett, Thomas B, Schulze, Thomas G, include:, IHG Consortium Co-Authors, Wedenoja, Juho, Kaunisto, Mari A, Heikkilä, Kauko, Kaprio, Jaakko, Wessman, Maija, Kallela, Mikko, Färkkilä, Markus, Artto, Ville, Aromaa, Arpo, Eriksson, Johan G, Winsvold, Bendik S, Zwart, John-Anker, Gormley, Padhraig, Palotie, Aarno, Kurth, Tobias, Rose, Lynda M, Buring, Julie E, Ridker, Paul M, Chasman, Daniel I, Bettella, Francesco, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, McMahon, George, Davey-Smith, George, Malik, Rainer, Freilinger, Tobias, Wichmann, Heinz Erich, Dichgans, Martin, Muller-Myhsok, Bertram, Meitinger, Thomas, de Vries, Boukje, Terwindt, Gisela, Stam, Anine H, Frants, Rune R, Pelzer, Nadine, Weller, Claudia M, Zielman, Ronald, Ferrari, Michel D, van den Maagdenberg, Arn MJM, Medland, Sarah E, Montgomery, Grant W, Martin, Nicholas G, Nyholt, Dale R, Todt, Unda, Borck, Guntram, Kubisch, Christian, Quaye, Lydia, Williams, Frances MK, Cherkas, Lynn, Koiranen, Markku, Hartikainen, Anna-Liisa, Pouta, Anneli, Jarvelin, Marjo-Riitta, Ikram, M Arfan, and van den Ende, Joyce
Subjects: Biomedical and Clinical Sciences, Neurosciences, Pain Research, Headaches, Bipolar Disorder, Migraines, Genetics, Mental Health, Brain Disorders, Mental Illness, Chronic Pain, Serious Mental Illness, Human Genome, 2.1 Biological and endogenous factors, Neurological, Adult, Carrier Proteins, Comorbidity, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Migraine Disorders, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Bipolar disorder, Migraine, NBEA, Neurobeachin, BiGS Consortium, IHG Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biomedical and clinical sciences, Health sciences, Psychology
Abstract: BackgroundMigraine is a common comorbidity among individuals with bipolar disorder, but the underlying mechanisms for this co-occurrence are poorly understood. The aim of this study was to investigate the genetic background of bipolar patients with and without migraine.MethodsWe performed a genome-wide association analysis contrasting 460 bipolar migraneurs with 914 bipolar patients without migraine from the Bipolar Genome Study (BiGS).ResultsWe identified one genome-wide significant association between migraine in bipolar disorder patients and rs1160720, an intronic single nucleotide polymorphism (SNP) in the NBEA gene (P=2.97 × 10(-8), OR: 1.82, 95% CI: 1.47-2.25), although this was not replicated in a smaller sample of 289 migraine cases.LimitationsOur study is based on self-reported migraine.ConclusionsNBEA encodes neurobeachin, a scaffolding protein primarily expressed in the brain and involved in trafficking of vesicles containing neurotransmitter receptors. This locus has not previously been implicated in migraine per se. We found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder.
Published: 2015

13. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author: O'Dushlaine, Colm, Rossin, Lizzy, Lee, Phil H, Duncan, Laramie, Parikshak, Neelroop N, Newhouse, Stephen, Ripke, Stephan, Neale, Benjamin M, Purcell, Shaun M, Posthuma, Danielle, Nurnberger, John I, Lee, S Hong, Faraone, Stephen V, Perlis, Roy H, Mowry, Bryan J, Thapar, Anita, Goddard, Michael E, Witte, John S, Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan E, Asherson, Philip, Azevedo, Maria H, Backlund, Lena, Badner, Judith A, Bailey, Anthony J, Banaschewski, Tobias, Barchas, Jack D, Barnes, Michael R, Barrett, Thomas B, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayes, Monica, Bellivier, Frank, Bergen, Sarah E, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth B, Black, Donald W, Blackwood, Douglas HR, Bloss, Cinnamon S, Boehnke, Michael, Boomsma, Dorret I, Breuer, Rene, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy G, Buitelaar, Jan K, Bunney, William E, Buxbaum, Joseph D, Byerley, William F, Byrne, Enda M, Caesar, Sian, Cahn, Wiepke, Cantor, Rita M, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Mattheisen, Manuel, Cloninger, C Robert, Collier, David A, Cook, Edwin H, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William H, Craig, David W, Craig, Ian W, Crosbie, Jennifer, Cuccaro, Michael L, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco J, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary J, Doyle, Alysa E, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard P, Edenberg, Howard J, Elia, Josephine, Ennis, Sean, Etain, Bruno, and Fanous, Ayman
Subjects: Human Genome, Brain Disorders, Serious Mental Illness, Schizophrenia, Genetics, Depression, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Brain, Databases, Genetic, Genetic Predisposition to Disease, Genome-Wide Association Study, Histones, Humans, Mental Disorders, Signal Transduction, Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract: Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.
Published: 2015

14. Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder

Author: Budde, Monika, Friedrichs, Stefanie, Alliey-Rodriguez, Ney, Ament, Seth, Badner, Judith A., Berrettini, Wade H., Bloss, Cinnamon S., Byerley, William, Cichon, Sven, Comes, Ashley L., Coryell, William, Craig, David W., Degenhardt, Franziska, Edenberg, Howard J., Foroud, Tatiana, Forstner, Andreas J., Frank, Josef, Gershon, Elliot S., Goes, Fernando S., Greenwood, Tiffany A., Guo, Yiran, Hipolito, Maria, Hood, Leroy, Keating, Brendan J., Koller, Daniel L., Lawson, William B., Liu, Chunyu, Mahon, Pamela B., McInnis, Melvin G., McMahon, Francis J., Meier, Sandra M., Mühleisen, Thomas W., Murray, Sarah S., Nievergelt, Caroline M., Nurnberger, John I., Jr., Nwulia, Evaristus A., Potash, James B., Quarless, Danjuma, Rice, John, Roach, Jared C., Scheftner, William A., Schork, Nicholas J., Shekhtman, Tatyana, Shilling, Paul D., Smith, Erin N., Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Treutlein, Jens, Witt, Stephanie H., Zandi, Peter P., Zhang, Peng, Zöllner, Sebastian, Bickeböller, Heike, Falkai, Peter G., Kelsoe, John R., Nöthen, Markus M., Rietschel, Marcella, Schulze, Thomas G., and Malzahn, Dörthe
Published: 2019
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15. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Author: 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., Jr., 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, Jr., 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, and Kendler, Kenneth S.
Published: 2018
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16. Heritability and linkage analysis of personality in bipolar disorder

Author: Greenwood, Tiffany A, Badner, Judith A, Byerley, William, Keck, Paul E, McElroy, Susan L, Remick, Ronald A, Sadovnick, A Dessa, and Kelsoe, John R
Subjects: Biological Psychology, Epidemiology, Social and Personality Psychology, Health Sciences, Psychology, Genetics, Mental Health, Human Genome, Bipolar Disorder, Mental Illness, Brain Disorders, Serious Mental Illness, Mental health, Adult, Depressive Disorder, Major, Endophenotypes, Family, Female, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Personality, Personality Inventory, Polymorphism, Single Nucleotide, Temperament, Bipolar disorder, TCI, Heritability, Genetic linkage, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundThe many attempts that have been made to identify genes for bipolar disorder (BD) have met with limited success, which may reflect an inadequacy of diagnosis as an informative and biologically relevant phenotype for genetic studies. Here we have explored aspects of personality as quantitative phenotypes for bipolar disorder through the use of the Temperament and Character Inventory (TCI), which assesses personality in seven dimensions. Four temperament dimensions are assessed: novelty seeking (NS), harm avoidance (HA), reward dependence (RD), and persistence (PS). Three character dimensions are also included: self-directedness (SD), cooperativeness (CO), and self-transcendence (ST).MethodsWe compared personality scores between diagnostic groups and assessed heritability in a sample of 101 families collected for genetic studies of BD. A genome-wide SNP linkage analysis was then performed in the subset of 51 families for which genetic data was available.ResultsSignificant group differences were observed between BD subjects, their first-degree relatives, and independent controls for all but RD and PS, and all but HA and RD were found to be significantly heritable in this sample. Linkage analysis of the heritable dimensions produced several suggestive linkage peaks for NS (chromosomes 7q21 and 10p15), PS (chromosomes 6q16, 12p13, and 19p13), and SD (chromosomes 4q35, 8q24, and 18q12).LimitationsThe relatively small size of our linkage sample likely limited our ability to reach genome-wide significance in this study.ConclusionsWhile not genome-wide significant, these results suggest that aspects of personality may prove useful in the identification of genes underlying BD susceptibility.
Published: 2013

17. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Author: Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole, Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan, Asherson, Philip, Azevedo, Maria, Backlund, Lena, Badner, Judith, Bailey, Anthony, Banaschewski, Tobias, Barchas, Jack, Barnes, Michael, Barrett, Thomas, Bass, Nicholas, Battaglia, Agatino, Bauer, Michael, Bayés, Mònica, Bellivier, Frank, Bergen, Sarah, Berrettini, Wade, Betancur, Catalina, Bettecken, Thomas, Biederman, Joseph, Binder, Elisabeth, Black, Donald, Blackwood, Douglas, Boehnke, Michael, Boomsma, Dorret, Breen, Gerome, Breuer, René, Bruggeman, Richard, Cormican, Paul, Buccola, Nancy, Buitelaar, Jan, Bunney, William, Buxbaum, Joseph, Byerley, William, Byrne, Enda, Caesar, Sian, Cahn, Wiepke, Cantor, Rita, Casas, Miguel, Chakravarti, Aravinda, Chambert, Kimberly, Choudhury, Khalid, Cichon, Sven, Cloninger, C, Collier, David, Cook, Edwin, Coon, Hilary, Cormand, Bru, Corvin, Aiden, Coryell, William, Craig, David, Craig, Ian, Crosbie, Jennifer, Cuccaro, Michael, Curtis, David, Czamara, Darina, Datta, Susmita, Dawson, Geraldine, Day, Richard, De Geus, Eco, Degenhardt, Franziska, Djurovic, Srdjan, Donohoe, Gary, Doyle, Alysa, Duan, Jubao, Dudbridge, Frank, Duketis, Eftichia, Ebstein, Richard, Edenberg, Howard, Elia, Josephine, Ennis, Sean, Etain, Bruno, Fanous, Ayman, Farmer, Anne, Ferrier, I, Flickinger, Matthew, Fombonne, Eric, Foroud, Tatiana, Frank, Josef, Franke, Barbara, Fraser, Christine, Freedman, Robert, Giegling, Ina, Gill, Michael, Gordon, Scott, Gordon-Smith, Katherine, Green, Elaine, Greenwood, Tiffany, Grice, Dorothy, Gross, Magdalena, Grozeva, Detelina, and Guan, Weihua
Subjects: Adult, Attention Deficit Disorder with Hyperactivity, Bipolar Disorder, Child, Child Development Disorders, Pervasive, Crohn Disease, Depressive Disorder, Major, Genetic Heterogeneity, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Inheritance Patterns, Mental Disorders, Polymorphism, Single Nucleotide, Schizophrenia
Abstract: Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD and major depressive disorder (0.32 ± 0.07 s.e.), low between schizophrenia and ASD (0.16 ± 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohns disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Published: 2013

18. Heritability and genome-wide SNP linkage analysis of temperament in bipolar disorder

Author: Greenwood, Tiffany A, Badner, Judith A, Byerley, William, Keck, Paul E, McElroy, Susan L, Remick, Ronald A, Sadovnick, A Dessa, Akiskal, Hagop S, and Kelsoe, John R
Subjects: Epidemiology, Health Sciences, Mental Illness, Genetics, Human Genome, Brain Disorders, Mental Health, Bipolar Disorder, Serious Mental Illness, Adult, Cross-Cultural Comparison, Female, Genetic Linkage, Genome-Wide Association Study, Humans, Irritable Mood, Male, Personality Inventory, Polymorphism, Single Nucleotide, Psychometrics, Reproducibility of Results, Surveys and Questionnaires, Temperament, Bipolar disorder, TEMPS-A, Heritability, Genetic linkage, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biomedical and clinical sciences, Health sciences, Psychology
Abstract: BackgroundThe many attempts to identify genes for bipolar disorder (BD) have met with limited success, which has generally been attributed to genetic heterogeneity and small gene effects. However, it is also possible that the categorical phenotypes used in genetic studies of BD are not the most informative or biologically relevant. We have explored aspects of temperament as quantitative phenotypes for BD through the use of the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Auto-questionnaire (TEMPS-A), which is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious.MethodsWe compared temperament scores between diagnostic groups and assessed heritability in a sample of 101 families collected for genetic studies of BD. A genome-wide SNP linkage study was then performed in the subset of 51 families for which genetic data was available.ResultsSignificant group differences were observed between BD subjects, their first-degree relatives, and independent controls, and all five temperaments were found to be significantly heritable, with heritabilities ranging from 21% for the hyperthymic to 52% for the irritable temperaments. Suggestive evidence for linkage was observed for the hyperthymic (chromosomes 1q44, 2p16, 6q16, and 14q23), dysthymic (chromosomes 3p21 and 13q34), and irritable (chromosome 6q24) temperaments.LimitationsThe relatively small size of our linkage sample likely limited our ability to reach genome-wide significance in this study.ConclusionsWhile not genome-wide significant, these results suggest that aspects of temperament may prove useful in the identification of genes underlying BD susceptibility.
Published: 2013

19. Genome-Wide Linkage Analysis of Obsessive-Compulsive Disorder Implicates Chromosome 1p36

Author: Mathews, Carol A, Badner, Judith A, Andresen, J Michael, Sheppard, Brooke, Himle, Joseph A, Grant, Jon E, Williams, Kyle A, Chavira, Denise A, Azzam, Amin, Schwartz, Maxine, Reus, Victor I, Kim, Suck Won, Cook, Edwin H, and Hanna, Gregory L
Subjects: Biological Sciences, Genetics, Biotechnology, Pediatric, Clinical Research, Human Genome, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 1, Family Health, Female, Follow-Up Studies, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Obsessive-Compulsive Disorder, Polymorphism, Single Nucleotide, United States, Young Adult, genome-wide, linkage, multigenerational, obsessive-compulsive, pedigree, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology
Abstract: BackgroundObsessive-compulsive disorder (OCD) has a complex etiology involving both genetic and environmental factors. However, the genetic causes of OCD are largely unknown, despite the identification of several promising candidate genes and linkage regions.MethodsOur objective was to conduct genetic linkage studies of the type of OCD thought to have the strongest genetic etiology (i.e., childhood-onset OCD), in 33 Caucasian families with ≥2 childhood-onset OCD-affected individuals from the United States (n = 245 individuals with genotype data). Parametric and nonparametric genome-wide linkage analyses were conducted with Morgan and Merlin in these families using a selected panel of single nucleotide repeat polymorphisms from the Illumina 610-Quad Bead Chip. The initial analyses were followed by fine-mapping analyses in genomic regions with initial heterogeneity logarithm of odds (HLOD) scores of ≥2.0.ResultsWe identified five areas of interest (HLOD score ≥2) on chromosomes 1p36, 2p14, 5q13, 6p25, and 10p13. The strongest result was on chromosome 1p36.33-p36.32 (HLOD = 3.77, suggestive evidence for linkage after fine mapping). At this location, several of the families showed haplotypes co-segregating with OCD.ConclusionsThe results of this study represent the strongest linkage finding for OCD in a primary analysis to date and suggest that chromosome 1p36, and possibly several other genomic regions, may harbor susceptibility loci for OCD. Multiple brain-expressed genes lie under the primary linkage peak (approximately 4 megabases in size). Follow-up studies, including replication in additional samples and targeted sequencing of the areas of interest, are needed to confirm these findings and to identify specific OCD risk variants.
Published: 2012

20. Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD

Author: Ross, Jessica, Badner, Judith, Garrido, Helena, Sheppard, Brooke, Chavira, Denise A, Grados, Marco, Woo, Jonathan M, Doo, Pamela, Umaña, Paula, Fournier, Eduardo, Murray, Sarah Shaw, and Mathews, Carol A
Subjects: Biological Sciences, Genetics, Human Genome, Pediatric, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Age of Onset, Chromosome Mapping, Chromosomes, Human, Pair 15, Costa Rica, Family Health, Female, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Haplotypes, Humans, Lod Score, Male, Obsessive-Compulsive Disorder, Pedigree, Polymorphism, Single Nucleotide, Ryanodine Receptor Calcium Release Channel, Sequence Analysis, DNA, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract: Obsessive compulsive disorder (OCD) has a complex etiology that encompasses both genetic and environmental factors. However, to date, despite the identification of several promising candidate genes and linkage regions, the genetic causes of OCD are largely unknown. The objective of this study was to conduct linkage studies of childhood-onset OCD, which is thought to have the strongest genetic etiology, in several OCD-affected families from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The authors used parametric and non-parametric approaches to conduct genome-wide linkage analyses using 5,786 single nucleotide repeat polymorphisms (SNPs) in three CVCR families with multiple childhood-onset OCD-affected individuals. We identified areas of suggestive linkage (LOD score ≥ 2) on chromosomes 1p21, 15q14, 16q24, and 17p12. The strongest evidence for linkage was on chromosome 15q14 (LOD = 3.13), identified using parametric linkage analysis with a recessive model, and overlapping a region identified in a prior linkage study using a Caucasian population. Each CVCR family had a haplotype that co-segregated with OCD across a ~7 Mbp interval within this region, which contains 18 identified brain expressed genes, several of which are potentially relevant to OCD. Exonic sequencing of the strongest candidate gene in this region, the ryanodine receptor 3 (RYR3), identified several genetic variants of potential interest, although none co-segregated with OCD in all three families. These findings provide evidence that chromosome 15q14 is linked to OCD in families from the CVCR, and supports previous findings to suggest that this region may contain one or more OCD susceptibility loci.
Published: 2011

21. Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.

Author: Smith, Erin N, Koller, Daniel L, Panganiban, Corrie, Szelinger, Szabolcs, Zhang, Peng, Badner, Judith A, Barrett, Thomas B, Berrettini, Wade H, Bloss, Cinnamon S, Byerley, William, Coryell, William, Edenberg, Howard J, Foroud, Tatiana, Gershon, Elliot S, Greenwood, Tiffany A, Guo, Yiran, Hipolito, Maria, Keating, Brendan J, Lawson, William B, Liu, Chunyu, Mahon, Pamela B, McInnis, Melvin G, McMahon, Francis J, McKinney, Rebecca, Murray, Sarah S, Nievergelt, Caroline M, Nurnberger, John I, Nwulia, Evaristus A, Potash, James B, Rice, John, Schulze, Thomas G, Scheftner, William A, Shilling, Paul D, Zandi, Peter P, Zöllner, Sebastian, Craig, David W, Schork, Nicholas J, and Kelsoe, John R
Subjects: Humans, Bipolar Disorder, Computational Biology, Genotype, Polymorphism, Single Nucleotide, Exons, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Genetics, Developmental Biology
Abstract: Although a highly heritable and disabling disease, bipolar disorder's (BD) genetic variants have been challenging to identify. We present new genotype data for 1,190 cases and 401 controls and perform a genome-wide association study including additional samples for a total of 2,191 cases and 1,434 controls. We do not detect genome-wide significant associations for individual loci; however, across all SNPs, we show an association between the power to detect effects calculated from a previous genome-wide association study and evidence for replication (P = 1.5×10(-7)). To demonstrate that this result is not likely to be a false positive, we analyze replication rates in a large meta-analysis of height and show that, in a large enough study, associations replicate as a function of power, approaching a linear relationship. Within BD, SNPs near exons exhibit a greater probability of replication, supporting an enrichment of reproducible associations near functional regions of genes. These results indicate that there is likely common genetic variation associated with BD near exons (±10 kb) that could be identified in larger studies and, further, provide a framework for assessing the potential for replication when combining results from multiple studies.
Published: 2011

22. Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

Author: Kumar, Ravinesh A, Marshall, Christian R, Badner, Judith A, Babatz, Timothy D, Mukamel, Zohar, Aldinger, Kimberly A, Sudi, Jyotsna, Brune, Camille W, Goh, Gerald, KaraMohamed, Samer, Sutcliffe, James S, Cook, Edwin H, Geschwind, Daniel H, Dobyns, William B, Scherer, Stephen W, and Christian, Susan L
Subjects: Neurosciences, Clinical Research, Biotechnology, Pediatric, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Animals, Autistic Disorder, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Embryo, Mammalian, Exons, Family Health, Genetic Predisposition to Disease, Genetic Variation, Humans, Membrane Proteins, Mice, Promoter Regions, Genetic, General Science & Technology
Abstract: BackgroundAutism is a complex childhood neurodevelopmental disorder with a strong genetic basis. Microdeletion or duplication of a approximately 500-700-kb genomic rearrangement on 16p11.2 that contains 24 genes represents the second most frequent chromosomal disorder associated with autism. The role of common and rare 16p11.2 sequence variants in autism etiology is unknown.Methodology/principal findingsTo identify common 16p11.2 variants with a potential role in autism, we performed association studies using existing data generated from three microarray platforms: Affymetrix 5.0 (777 families), Illumina 550 K (943 families), and Affymetrix 500 K (60 families). No common variants were identified that were significantly associated with autism. To look for rare variants, we performed resequencing of coding and promoter regions for eight candidate genes selected based on their known expression patterns and functions. In total, we identified 26 novel variants in autism: 13 exonic (nine non-synonymous, three synonymous, and one untranslated region) and 13 promoter variants. We found a significant association between autism and a coding variant in the seizure-related gene SEZ6L2 (12/1106 autism vs. 3/1161 controls; p = 0.018). Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain. SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus. Association analysis of SEZ6L2 in an independent sample set failed to replicate our initial findings.Conclusions/significanceWe have identified sequence variation in at least one candidate gene in 16p11.2 that may represent a novel genetic risk factor for autism. However, further studies are required to substantiate these preliminary findings.
Published: 2009

23. A High-Density Genome Scan Detects Evidence for a Bipolar-Disorder Susceptibility Locus on 13q32 and Other Potential Loci on 1q32 and 18p11.2

Author: Detera-Wadleigh, Sevilla D., Badner, Judith A., Berrettini, Wade H., Yoshikawa, Takeo, Goldin, Lynn R., Turner, Gordon, Rollins, Denise Y., Moses, Tracy, Sanders, Alan R., Karkera, Jayaprakash D., Esterling, Lisa E., Zeng, Jin, Ferraro, Thomas N., Guroff, Juliet J., Kazuba, Diane, Maxwell, Mary E., Nurnberger, John I., and Gershon, Elliot S.
Published: 1999

24. NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis

Author: Alliey-Rodriguez, Ney, Grey, Tamar A., Shafee, Rebecca, Asif, Huma, Lutz, Olivia, Bolo, Nicolas R., Padmanabhan, Jaya, Tandon, Neeraj, Klinger, Madeline, Reis, Katherine, Spring, Jonathan, Coppes, Lucas, Zeng, Victor, Hegde, Rachal R., Hoang, Dung T., Bannai, Deepthi, Nawaz, Uzma, Henson, Philip, Liu, Siyuan, Gage, Diane, McCarroll, Steven, Bishop, Jeffrey R., Hill, Scot, Reilly, James L., Lencer, Rebekka, Clementz, Brett A., Buckley, Peter, Glahn, David C., Meda, Shashwath A., Narayanan, Balaji, Pearlson, Godfrey, Keshavan, Matcheri S., Ivleva, Elena I., Tamminga, Carol, Sweeney, John A., Curtis, David, Badner, Judith A., Keedy, Sarah, Rapoport, Judith, Liu, Chunyu, and Gershon, Elliot S.
Published: 2019
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25. Data from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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26. Supplementary Figure Legends 1-4 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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27. Supplementary Figure 4 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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28. Supplementary Table 1 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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29. Supplementary Figure 3 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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30. Supplementary Figure 2 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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31. Supplementary Figure 1 from Mapping Genes that Contribute to Daunorubicin-Induced Cytotoxicity

Author: Duan, Shiwei, primary, Bleibel, Wasim K., primary, Huang, Rong Stephanie, primary, Shukla, Sunita J., primary, Wu, Xiaolin, primary, Badner, Judith A., primary, and Dolan, M. Eileen, primary
Published: 2023
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32. Pursuit eye movements as an intermediate phenotype across psychotic disorders: Evidence from the B-SNIP study

Author: Lencer, Rebekka, Sprenger, Andreas, Reilly, James L., McDowell, Jennifer E., Rubin, Leah H., Badner, Judith A., Keshavan, Matcheri S., Pearlson, Godfrey D., Tamminga, Carol A., Gershon, Elliot S., Clementz, Brett A., and Sweeney, John A.
Published: 2015
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33. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author: Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., McKinney, Rebecca, Shilling, Paul D., Smith, Erin N., Schork, Nicholas J., Bloss, Cinnamon S., Nurnberger, John I., Jr., Edenberg, Howard J., Foroud, Tatiana, Koller, Daniel L., Gershon, Elliot S., Badner, Judith A., Liu, Chunyu, Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Potash, James, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Berrettini, Wade H., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zöllner, Sebastian, Zhang, Peng, Craig, David W., Szelinger, Szabolics, Barrett, Thomas B., Schulze, Thomas G., Wedenoja, Juho, Kaunisto, Mari A., Heikkilä, Kauko, Kaprio, Jaakko, Wessman, Maija, Kallela, Mikko, Färkkilä, Markus, Artto, Ville, Aromaa, Arpo, Eriksson, Johan G., Winsvold, Bendik S., Zwart, John-Anker, Gormley, Padhraig, Palotie, Aarno, Kurth, Tobias, Rose, Lynda M., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Bettella, Francesco, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, McMahon, George, Davey-Smith, George, Malik, Rainer, Freilinger, Tobias, Erich Wichmann, Heinz, Dichgans, Martin, Muller-Myhsok, Bertram, Meitinger, Thomas, de Vries, Boukje, Terwindt, Gisela, Stam, Anine H., Frants, Rune R., Pelzer, Nadine, Weller, Claudia M., Zielman, Ronald, Ferrari, Michel D., van den Maagdenberg, Arn M.J.M., Medland, Sarah E., Montgomery, Grant W., Martin, Nicholas G., Nyholt, Dale R., Todt, Unda, Borck, Guntram, Kubisch, Christian, Quaye, Lydia, Williams, Frances M.K., Cherkas, Lynn, Koiranen, Markku, Hartikainen, Anna-Liisa, Pouta, Anneli, Jarvelin, Marjo-Riitta, Arfan Ikram, M., van den Ende, Joyce, Uitterlinden, Andre G., Hofman, Albert, Amin, Najaf, van Duijn, Cornelia, Lehtimäki, Terho, Ligthart, Lannie, Hottenga, Jouke-Jan, Vink, Jacqueline M., Penninx, Brenda W., Boomsma, Dorret I., Schürks, Markus, Jakobsson, Finnbogi, Schoenen, Jean, Heath, Andrew C., Madden, Pamela A.F., Göbel, Hartmut, Heinze, Axel, Heinze-Kuhn, Katja, Schreiber, Stefan, Anttila, Verneri, Daly, Mark J., Alexander, Michael, Raitakari, Olli, Strachan, David P., Jacobsen, Kaya K., Zayats, Tetyana, Akiskal, Hagop S., Haavik, Jan, Bernt Fasmer, Ole, Johansson, Stefan, and Oedegaard, Ketil J.
Published: 2015
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34. Rare variants in neuronal excitability genes influence risk for bipolar disorder

Author: The Bipolar Genome Study, Amenta, Seth A., Szelinger, Szabolcs, Glusman, Gustavo, Ashworth, Justin, Hou, Liping, Akula, Nirmala, Shekhtman, Tatyana, Badner, Judith A., Brunkow, Mary E., Mauldin, Denise E., Stittrich, Anna-Barbara, Rouleau, Katherine, Detera-Wadleigh, Sevilla D., Nurnberger, John I., Edenberg, Howard J., Gershon, Elliot S., Schork, Nicholas, Price, Nathan D., Gelinas, Richard, Hood, Leroy, Craig, David, McMahon, Francis J., Kelsoe, John R., and Roach, Jared C.
Published: 2015

35. Whole-genome approach implicates CD44 in cellular resistance to carboplatin

Author: Shukla Sunita J, Duan Shiwei, Wu Xiaolin, Badner Judith A, Kasza Kristen, and Dolan M
Subjects: CD44, carboplatin, CEPH, HapMap, expression, linkage, Medicine, Genetics, QH426-470
Abstract: Abstract Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pedigrees were utilised to evaluate interindividual variation in carboplatin cytotoxicity. Significant heritability, ranging from 0.17-0.36 (p = 1 × 10-7 to 9 × 10-4), was found for cell growth inhibition following 72-hour treatment at each carboplatin concentration (10, 20, 40 and 80 μM) and IC50 (concentration for 50 per cent cell growth inhibition). Linkage analysis revealed 11 regions with logarithm of odds (LOD) scores greater than 1.5. The highest LOD score on chromosome 11 (LOD = 3.36, p = 4.2 × 10-5) encompasses 65 genes within the 1 LOD confidence interval for the carboplatin IC50. We further analysed the IC50 phenotype with a linkage-directed association analysis using 71 unrelated HapMap and Perlegen cell lines and identified 18 single nucleotide polymorphisms within eight genes that were significantly associated with the carboplatin IC50 (p < 3.6 × 10-5; false discovery rate < 5 per cent). Next, we performed linear regression on the baseline expression and carboplatin IC50 values of the eight associated genes, which identified the most significant correlation between CD44 expression and IC50 (r2 = 0.20; p = 6 × 10-4). The quantitative real-time polymerase chain reaction further confirmed a statistically significant difference in CD44 expression levels between carboplatin-resistant and -sensitive cell lines (p = 5.9 × 10-3). Knockdown of CD44 expression through small interfering RNA resulted in increased cellular sensitivity to carboplatin (p < 0.01). Our whole-genome approach using molecular experiments identified CD44 as being important in conferring cellular resistance to carboplatin.
Published: 2009
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36. Pharmacogenetic associations of the type-3 metabotropic glutamate receptor (GRM3) gene with working memory and clinical symptom response to antipsychotics in first-episode schizophrenia

Author: Bishop, Jeffrey R., Reilly, James L., Harris, Margret S. H., Patel, Shitalben R., Kittles, Rick, Badner, Judith A., Prasad, Konasale M., Nimgaonkar, Vishwajit L., Keshavan, Matcheri S., and Sweeney, John A.
Published: 2015
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37. Genetic Control of Individual Differences in Gene-Specific Methylation in Human Brain

Author: Zhang, Dandan, Cheng, Lijun, Badner, Judith A., Chen, Chao, Chen, Qi, Luo, Wei, Craig, David W., Redman, Margot, Gershon, Elliot S., and Liu, Chunyu
Published: 2010
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38. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

Author: Blokland, Gabriëlla A.M., primary, Grove, Jakob, additional, Chen, Chia-Yen, additional, Cotsapas, Chris, additional, Tobet, Stuart, additional, Handa, Robert, additional, St Clair, David, additional, Lencz, Todd, additional, Mowry, Bryan J., additional, Periyasamy, Sathish, additional, Cairns, Murray J., additional, Tooney, Paul A., additional, Wu, Jing Qin, additional, Kelly, Brian, additional, Kirov, George, additional, Sullivan, Patrick F., additional, Corvin, Aiden, additional, Riley, Brien P., additional, Esko, Tõnu, additional, Milani, Lili, additional, Jönsson, Erik G., additional, Palotie, Aarno, additional, Ehrenreich, Hannelore, additional, Begemann, Martin, additional, Steixner-Kumar, Agnes, additional, Sham, Pak C., additional, Iwata, Nakao, additional, Weinberger, Daniel R., additional, Gejman, Pablo V., additional, Sanders, Alan R., additional, Buxbaum, Joseph D., additional, Rujescu, Dan, additional, Giegling, Ina, additional, Konte, Bettina, additional, Hartmann, Annette M., additional, Bramon, Elvira, additional, Murray, Robin M., additional, Pato, Michele T., additional, Lee, Jimmy, additional, Melle, Ingrid, additional, Molden, Espen, additional, Ophoff, Roel A., additional, McQuillin, Andrew, additional, Bass, Nicholas J., additional, Adolfsson, Rolf, additional, Malhotra, Anil K., additional, Martin, Nicholas G., additional, Fullerton, Janice M., additional, Mitchell, Philip B., additional, Schofield, Peter R., additional, Forstner, Andreas J., additional, Degenhardt, Franziska, additional, Schaupp, Sabrina, additional, Comes, Ashley L., additional, Kogevinas, Manolis, additional, Guzman-Parra, José, additional, Reif, Andreas, additional, Streit, Fabian, additional, Sirignano, Lea, additional, Cichon, Sven, additional, Grigoroiu-Serbanescu, Maria, additional, Hauser, Joanna, additional, Lissowska, Jolanta, additional, Mayoral, Fermin, additional, Müller-Myhsok, Bertram, additional, Świątkowska, Beata, additional, Schulze, Thomas G., additional, Nöthen, Markus M., additional, Rietschel, Marcella, additional, Kelsoe, John, additional, Leboyer, Marion, additional, Jamain, Stéphane, additional, Etain, Bruno, additional, Bellivier, Frank, additional, Vincent, John B., additional, Alda, Martin, additional, O’Donovan, Claire, additional, Cervantes, Pablo, additional, Biernacka, Joanna M., additional, Frye, Mark, additional, McElroy, Susan L., additional, Scott, Laura J., additional, Stahl, Eli A., additional, Landén, Mikael, additional, Hamshere, Marian L., additional, Smeland, Olav B., additional, Djurovic, Srdjan, additional, Vaaler, Arne E., additional, Andreassen, Ole A., additional, Baune, Bernhard T., additional, Air, Tracy, additional, Preisig, Martin, additional, Uher, Rudolf, additional, Levinson, Douglas F., additional, Weissman, Myrna M., additional, Potash, James B., additional, Shi, Jianxin, additional, Knowles, James A., additional, Perlis, Roy H., additional, Lucae, Susanne, additional, Boomsma, Dorret I., additional, Penninx, Brenda W.J.H., additional, Hottenga, Jouke-Jan, additional, de Geus, Eco J.C., additional, Willemsen, Gonneke, additional, Milaneschi, Yuri, additional, Tiemeier, Henning, additional, Grabe, Hans J., additional, Teumer, Alexander, additional, Van der Auwera, Sandra, additional, Völker, Uwe, additional, Hamilton, Steven P., additional, Magnusson, Patrik K.E., additional, Viktorin, Alexander, additional, Mehta, Divya, additional, Mullins, Niamh, additional, Adams, Mark J., additional, Breen, Gerome, additional, McIntosh, Andrew M., additional, Lewis, Cathryn M., additional, Hougaard, David M., additional, Nordentoft, Merete, additional, Mors, Ole, additional, Mortensen, Preben B., additional, Werge, Thomas, additional, Als, Thomas D., additional, Børglum, Anders D., additional, Petryshen, Tracey L., additional, Smoller, Jordan W., additional, Goldstein, Jill M., additional, Ripke, Stephan, additional, Neale, Benjamin M., additional, Walters, James T.R., additional, Farh, Kai-How, additional, Holmans, Peter A., additional, Lee, Phil, additional, Bulik-Sullivan, Brendan, additional, Collier, David A., additional, Huang, Hailiang, additional, Pers, Tune H., additional, Agartz, Ingrid, additional, Agerbo, Esben, additional, Albus, Margot, additional, Alexander, Madeline, additional, Amin, Farooq, additional, Bacanu, Silviu A., additional, Belliveau, Richard A., additional, Bene, Judit, additional, Bergen, Sarah E., additional, Bevilacqua, Elizabeth, additional, Bigdeli, Tim B., additional, Black, Donald W., additional, Bruggeman, Richard, additional, Buccola, Nancy G., additional, Buckner, Randy L., additional, Byerley, William, additional, Cahn, Wiepke, additional, Cai, Guiqing, additional, Campion, Dominique, additional, Cantor, Rita M., additional, Carr, Vaughan J., additional, Carrera, Noa, additional, Catts, Stanley V., additional, Chambert, Kimberly D., additional, Chan, Raymond C.K., additional, Chen, Ronald Y.L., additional, Chen, Eric Y.H., additional, Cheng, Wei, additional, Cheung, Eric F.C., additional, Chong, Siow Ann, additional, Cloninger, C. Robert, additional, Cohen, David, additional, Cohen, Nadine, additional, Cormican, Paul, additional, Craddock, Nick, additional, Crowley, James J., additional, Curtis, David, additional, Davidson, Michael, additional, Davis, Kenneth L., additional, Del Favero, Jurgen, additional, Demontis, Ditte, additional, Dikeos, Dimitris, additional, Dinan, Timothy, additional, Donohoe, Gary, additional, Drapeau, Elodie, additional, Duan, Jubao, additional, Dudbridge, Frank, additional, Durmishi, Naser, additional, Eichhammer, Peter, additional, Eriksson, Johan, additional, Escott-Price, Valentina, additional, Essioux, Laurent, additional, Fanous, Ayman H., additional, Farrell, Martilias S., additional, Frank, Josef, additional, Franke, Lude, additional, Freedman, Robert, additional, Freimer, Nelson B., additional, Friedl, Marion, additional, Friedman, Joseph I., additional, Fromer, Menachem, additional, Genovese, Giulio, additional, Georgieva, Lyudmila, additional, Giusti-Rodríguez, Paola, additional, Godard, Stephanie, additional, Goldstein, Jacqueline I., additional, Golimbet, Vera, additional, Gopal, Srihari, additional, Gratten, Jacob, additional, de Haan, Lieuwe, additional, Hammer, Christian, additional, Hansen, Mark, additional, Hansen, Thomas, additional, Haroutunian, Vahram, additional, Henskens, Frans A., additional, Herms, Stefan, additional, Hirschhorn, Joel N., additional, Hoffmann, Per, additional, Hofman, Andrea, additional, Hollegaard, Mads V., additional, Ikeda, Masashi, additional, Joa, Inge, additional, Julià, Antonio, additional, Kahn, René S., additional, Kalaydjieva, Luba, additional, Karachanak-Yankova, Sena, additional, Karjalainen, Juha, additional, Kavanagh, David, additional, Keller, Matthew C., additional, Kennedy, James L., additional, Khrunin, Andrey, additional, Kim, Yunjung, additional, Klovins, Janis, additional, Kucinskas, Vaidutis, additional, Kucinskiene, Zita Ausrele, additional, Kuzelova-Ptackova, Hana, additional, Kähler, Anna K., additional, Laurent, Claudine, additional, Lee Chee Keong, Jimmy, additional, Lee, S. Hong, additional, Legge, Sophie E., additional, Lerer, Bernard, additional, Li, Miaoxin, additional, Li, Tao, additional, Liang, Kung-Yee, additional, Lieberman, Jeffrey, additional, Limborska, Svetlana, additional, Loughland, Carmel M., additional, Lubinski, Jan, additional, Lönnqvist, Jouko, additional, Macek, Milan, additional, Maher, Brion S., additional, Maier, Wolfgang, additional, Mallet, Jacques, additional, Marsal, Sara, additional, Mattheisen, Manuel, additional, Mattingsdal, Morten, additional, McCarley, Robert W., additional, McDonald, Colm, additional, Meier, Sandra, additional, Meijer, Carin J., additional, Melegh, Bela, additional, Mesholam-Gately, Raquelle I., additional, Metspalu, Andres, additional, Michie, Patricia T., additional, Milanova, Vihra, additional, Mokrab, Younes, additional, Morris, Derek W., additional, Murphy, Kieran C., additional, Myin-Germeys, Inez, additional, Nelis, Mari, additional, Nenadic, Igor, additional, Nertney, Deborah A., additional, Nestadt, Gerald, additional, Nicodemus, Kristin K., additional, Nikitina-Zake, Liene, additional, Nisenbaum, Laura, additional, Nordin, Annelie, additional, O’Callaghan, Eadbhard, additional, O’Dushlaine, Colm, additional, O’Neill, F. Anthony, additional, Oh, Sang-Yun, additional, Olincy, Ann, additional, Olsen, Line, additional, Van Os, Jim, additional, Pantelis, Christos, additional, Papadimitriou, George N., additional, Papiol, Sergi, additional, Parkhomenko, Elena, additional, Paunio, Tiina, additional, Pejovic-Milovancevic, Milica, additional, Perkins, Diana O., additional, Pietiläinen, Olli, additional, Pimm, Jonathan, additional, Pocklington, Andrew J., additional, Powell, John, additional, Price, Alkes, additional, Pulver, Ann E., additional, Purcell, Shaun M., additional, Quested, Digby, additional, Rasmussen, Henrik B., additional, Reichenberg, Abraham, additional, Reimers, Mark A., additional, Richards, Alexander L., additional, Roffman, Joshua L., additional, Roussos, Panos, additional, Ruderfer, Douglas M., additional, Salomaa, Veikko, additional, Schall, Ulrich, additional, Schubert, Christian R., additional, Schwab, Sibylle G., additional, Scolnick, Edward M., additional, Scott, Rodney J., additional, Seidman, Larry J., additional, Sigurdsson, Engilbert, additional, Silagadze, Teimuraz, additional, Silverman, Jeremy M., additional, Sim, Kang, additional, Slominsky, Petr, additional, So, Hon-Cheong, additional, Spencer, Chris C.A., additional, Stefansson, Hreinn, additional, Steinberg, Stacy, additional, Stogmann, Elisabeth, additional, Straub, Richard E., additional, Strengman, Eric, additional, Strohmaier, Jana, additional, Stroup, T. 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additional, Mill, Jonathan, additional, and Geschwind, Daniel, additional
Published: 2022
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39. 41. A RARE VARIANT IN D-AMINO ACID OXIDASE IMPLICATES NMDA RECEPTOR SIGNALING AND CEREBELLAR GENE NETWORKS IN RISK FOR BIPOLAR DISORDER

Author: Hasin, Naushaba, primary, Riggs, Lace, additional, Shekhtman, Tatyana, additional, Ashworth, Justin, additional, Lease, Robert, additional, Oshone, Rediet, additional, Humphries, Elizabeth, additional, Badner, Judith, additional, Thompson, Pippa, additional, Gershon, Elliot, additional, Kelsoe, John, additional, Roach, Jared, additional, Gould, Todd, additional, and Ament, Seth, additional
Published: 2021
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40. Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

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Fermin Perez, Craig, David W, Cruceanu, Cristiana, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Del-Favero, Jurgen, Djurovic, Srdjan, Dobbyn, Amanda L, Haro González, Jesus, Dumont, Ashley, Elvsåshagen, Torbjørn, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Fraser, Christine, Psychiatry, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, Epidemiology and Data Science, APH - Digital Health, Andlauer T.F.M., Guzman-Parra J., Streit F., Strohmaier J., Gonzalez M.J., Gil Flores S., Cabaleiro Fabeiro F.J., del Rio Noriega F., Perez F.P., Haro Gonzalez J., Orozco Diaz G., de Diego-Otero Y., Moreno-Kustner B., Auburger G., Degenhardt F., Heilmann-Heimbach S., Herms S., Hoffmann P., Frank J., Foo J.C., Treutlein J., Witt S.H., Cichon S., Kogevinas M., Stahl E.A., Breen G., Forstner A.J., McQuillin A., Ripke S., Trubetskoy V., Mattheisen M., Wang Y., Coleman J.R.I., Gaspar H.A., de Leeuw C.A., Steinberg S., Pavlides J.M.W., Trzaskowski M., Pers T.H., Holmans P.A., Abbott L., Agerbo E., Akil H., Albani D., Alliey-Rodriguez N., Als T.D., Anjorin A., Antilla V., Awasthi S., Badner J.A., Baekvad-Hansen M., Barchas J.D., Bass N., Bauer M., Belliveau R., Bergen S.E., Pedersen C.B., Boen E., Boks M., Boocock J., Budde M., Bunney W., Burmeister M., Bybjerg-Grauholm J., Byerley W., Casas M., Cerrato F., Cervantes P., Chambert K., Charney A.W., Chen D., Churchhouse C., Clarke T.-K., Coryell W., Craig D.W., Cruceanu C., Czerski P.M., Dale A.M., de Jong S., Del-Favero J., DePaulo J.R., Djurovic S., Dobbyn A.L., Dumont A., Elvsashagen T., Escott-Price V., Fan C.C., Fischer S.B., Flickinger M., Foroud T.M., Forty L., Fraser C., Freimer N.B., Frisen L., Gade K., Gage D., Garnham J., Giambartolomei C., Pedersen M.G., Goldstein J., Gordon S.D., Gordon-Smith K., Green E.K., Green M.J., Greenwood T.A., Grove J., Guan W., Parra J.G., Hamshere M.L., Hautzinger M., Heilbronner U., Hipolito M., Holland D., Huckins L., Jamain S., Johnson J.S., Jureus A., Kandaswamy R., Karlsson R., Kennedy J.L., Kittel-Schneider S., Knowles J.A., Koller A.C., Kupka R., Lavebratt C., Lawrence J., Lawson W.B., Leber M., Lee P.H., Levy S.E., Li J.Z., Liu C., Lucae S., Maaser A., MacIntyre D.J., Mahon P.B., Maier W., Martinsson L., McCarroll S., McGuffin P., McInnis M.G., McKay J.D., Medeiros H., Medland S.E., Meng F., Milani L., Montgomery G.W., Morris D.W., Muhleisen T.W., Mullins N., Nguyen H., Nievergelt C.M., Adolfsson A.N., Nwulia E.A., O'Donovan C., Loohuis L.M.O., Ori A.P.S., Oruc L., Osby U., Perlis R.H., Perry A., Pfennig A., Potash J.B., Purcell S.M., Regeer E.J., Reif A., Reinbold C.S., Rice J.P., Richards A.L., Rivas F., Rivera M., Roussos P., Ruderfer D.M., Ryu E., Sanchez-Mora C., Schatzberg A.F., Scheftner W.A., Schork N.J., Weickert C.S., Shehktman T., Shilling P.D., Sigurdsson E., Slaney C., Smeland O.B., Sobell J.L., Hansen C.S., Spijker A.T., Clair D.S., Steffens M., Strauss J.S., Szelinger S., Thompson R.C., EThorgeirsson T., Vedde H., Wang W., Watson S.J., Weickert T.W., Xi S., Xu W., Young A.H., Zandi P., Zhang P., Zollner S., Adolfsson R., Agartz I., Alda M., Backlund L., Baune B.T., Bellivier F., Berrettini W.H., Biernacka J.M., Blackwood D.H.R., Boehnke M., Borglum A.D., Corvin A., Craddock N., Daly M.J., Dannlowski U., Esko T., Etain B., Frye M., Fullerton J.M., Gershon E.S., Gill M., Goes F., Grigoroiu-Serbanescu M., Hauser J., Hougaard D.M., Hultman C.M., Jones I., Jones L.A., Kahn R.S., Kirov G., Landen M., Leboyer M., Lewis C.M., Li Q.S., Lissowska J., Martin N.G., Mayoral F., McElroy S.L., McIntosh A.M., McMahon F.J., Melle I., Metspalu A., Mitchell P.B., Morken G., Mors O., Mortensen P.B., Muller-Myhsok B., Myers R.M., Neale B.M., Nimgaonkar V., Nordentoft M., Nothen M.M., O'Donovan M.C., Oedegaard K.J., Owen M.J., Paciga S.A., Pato C., Pato M.T., Posthuma D., Ramos-Quiroga J.A., Ribases M., Rietschel M., Rouleau G.A., Schalling M., Schofield P.R., Schulze T.G., Serretti A., Smoller J.W., Stefansson H., Stefansson K., Stordal E., Sullivan P.F., Turecki G., Vaaler A.E., Vieta E., Vincent J.B., Werge T., Nurnberger J.I., Wray N.R., Florio A.D., Edenberg H.J., Ophoff R.A., Scott L.J., Andreassen O.A., Kelsoe J., Sklar P., Byrne E.M., Abdellaoui A., Adams M.J., Air T.M., Bacanu S.-A., Beekman A.T.F., Bigdeli T.B., Binder E.B., Bryois J., Buttenschon H.N., Cai N., Castelao E., Christensen J.H., Colodro-Conde L., Couvy-Duchesne B., Crawford G.E., Davies G., Deary I.J., Derks E.M., Direk N., Dolan C.V., Dunn E.C., Eley T.C., Kiadeh F.F.H., Finucane H.K., Goes F.S., Hall L.S., Hansen T.F., Hickie I.B., Homuth G., Horn C., Hottenga J.-J., Howard D.M., Ising M., Jansen R., Jorgenson E., Kohane I.S., Hill, Kraft J., Kretzschmar W.W., Kutalik Z., Li Y., Lind P.A., MacKinnon D.F., Maier R.M., Marchini J., Mbarek H., McGrath P., Mehta D., Middeldorp C.M., Mihailov E., Milaneschi Y., Mondimore F.M., Mostafavi S., Nauck M., Ng B., Nivard M.G., Nyholt D.R., O'Reilly P.F., Oskarsson H., Painter J.N., Peterson R.E., Pettersson E., Peyrot W.J., Pistis G., Quiroz J.A., Qvist P., Riley B.P., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Shi J., Shyn S.I., Sinnamon G.C.B., Smit J.H., Smith D.J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Uitterlinden A.G., Umbricht D., Van der Auwera S., van Hemert A.M., Viktorin A., Visscher P.M., Webb B.T., Weinsheimer S.M., Wellmann J., Willemsen G., Wu Y., Xi H.S., Yang J., Zhang F., Arolt V., Berger K., Boomsma D.I., de Geus E.J.C., Domenici E., Domschke K., Grabe H.J., Hamilton S.P., Hayward C., Heath A.C., Kendler K.S., Kloiber S., Lewis G., Madden P.A.F., Magnusson P.K., Pedersen N.L., Penninx B.W.J.H., Porteous D.J., Preisig M., Schaefer C., Tiemeier H., Uher R., Volzke H., Weissman M.M., Levinson D.F., Child and Adolescent Psychiatry / Psychology, Epidemiology, Internal Medicine, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, APH - Methodology, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Complex Trait Genetics, and Adult Psychiatry
Subjects: Netherlands Twin Register (NTR), Genetic variants, Bipolar Disorder, Specific risk, Disease, 0302 clinical medicine, Multiplex, Genetic risk, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Depression (differential diagnoses), 0303 health sciences, Depression, ddc, 3. Good health, Geðraskanir, Psychiatry and Mental health, Schizophrenia, Cohort, Major depressive disorder, Case-Control Studie, Human, medicine.medical_specialty, Bipolar disorder, Article, Cellular and Molecular Neuroscience, 03 medical and health sciences, Geðklofi, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Psychiatry, Þunglyndi, Molecular Biology, 030304 developmental biology, Depressive Disorder, Major, Geðhvarfasýki, business.industry, Psychiatric disorder, medicine.disease, Genarannsóknir, Case-Control Studies, Multiple comparisons problem, business, 030217 neurology & neurosurgery
Abstract: Publisher's version, Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development., The study was supported by the German Federal Ministry of Education and Research (BMBF), through the Integrated Network IntegraMent, under the auspices of the e:Med programme (grants 01ZX1314A to MMN and SC; 01ZX1314G to MR; 01ZX1614J to BMM) through grants 01EE1406C to MR and 01EE1409C to MR and SHW, and through ERA-NET NEURON, “SynSchiz—Linking synaptic dysfunction to disease mechanisms in schizophrenia—a multilevel investigation” (01EW1810 to MR) and BMBF grants 01EE1409C and 01EE1406C to MR and SHW; by the German Research Foundation (DFG grants FOR2107; RI908/11-2 to MR; NO246/10-2 to MMN; MU1315/8-2 to BMM; WI 3439/3-2 to SHW), by the Andalusian regional Health and Innovation Government (grants PI-0060-2017, RC-0006-2015 the Nicolas Monarde Programme for YDO and CTS-546) and by the Swiss National Science Foundation (SNSF grant 156791 to SC). MMN is a member of the DFG-funded cluster of excellence ImmunoSensation. The PGC has received major funding from the US National Institute of Mental Health and the US National Institute of Drug Abuse (U01 MH109528 and U01 MH1095320). We thank the research participants and employees of 23andMe, Inc. for their contribution to the MDD meta-analysis published in [14]. We thank the International Genomics of Alzheimer's Project (IGAP) for providing summary results data for the present analyses. See the Supplementary Data for extended Acknowledgements.
Published: 2021
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41. Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

Author: Christian, Susan L., Brune, Camille W., Sudi, Jyotsna, Kumar, Ravinesh A., Liu, Shaung, Karamohamed, Samer, Badner, Judith A., Matsui, Seiichi, Conroy, Jeffrey, McQuaid, Devin, Gergel, James, Hatchwell, Eli, Gilliam, T. Conrad, Gershon, Elliot S., Nowak, Norma J., Dobyns, William B., and Cook, Edwin H., Jr.
Published: 2008
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42. Allelic association of G72/G30 with schizophrenia and bipolar disorder: A comprehensive meta-analysis

Author: Shi, Jiajun, Badner, Judith A., Gershon, Elliot S., and Liu, Chunyu
Published: 2008
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43. Genetic control of individual differences in gene-specific methylation in human brain

Author: Dandan Zhang, Lijun Cheng, Badner, Judith A., Chao Chen, Qi Chen, Wei Luo, Craig, David W., Redman, Margot, Gershon, Elliot S., and Chunyu Liu
Subjects: Quantitative trait loci -- Research, Brain research, Biological sciences
Abstract: A genome-wide association study (GWAS) mapping of methylation quantitative trait loci for all the CpG sites of genes in adult human cerebellum samples is undertaken to analyze the genetic control of individual differences in gene-specific methylation in human brain. Results reveal that DNA methylation is substantially correlated with gene expression, demonstrating that DNA methylation is a heritable continuous quantitatively variable attribute in the human brain.
Published: 2010

44. Identification of genomic regions contributing to etoposide-induced cytotoxicity

Author: Bleibel, Wasim K., Duan, Shiwei, Huang, R. Stephanie, Kistner, Emily O., Shukla, Sunita J., Wu, Xiaolin, Badner, Judith A., and Dolan, M. Eileen
Published: 2009
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45. A rare variant in D-amino acid oxidase implicates NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder

Author: Hasin, Naushaba, primary, Riggs, Lace M., additional, Shekhtman, Tatyana, additional, Ashworth, Justin, additional, Lease, Robert, additional, Oshone, Rediet T., additional, Humphries, Elizabeth M., additional, Badner, Judith A., additional, Thompson, Pippa A., additional, Glahn, David C., additional, Craig, David W., additional, Edenberg, Howard J., additional, Gershon, Elliot S., additional, McMahon, Francis J., additional, Nurnberger, John I., additional, Zandi, Peter P., additional, Kelsoe, John R., additional, Roach, Jared C., additional, Gould, Todd D., additional, and Ament, Seth A., additional
Published: 2021
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46. Association study of Wnt signaling pathway genes in bipolar disorder

Author: Zandi, Peter P., Belmonte, Pamela L., Willour, Virginia L., Goes, Fernando S., Badner, Judith A., Simpson, Sylvia G., Gershon, Elliot S., McMahon, Francis J., DePaulo, J. Raymond, Jr., and Potash, James B.
Subjects: Bipolar disorder -- Genetic aspects, Bipolar disorder -- Development and progression, Bipolar disorder -- Research, Cellular signal transduction -- Physiological aspects, Cellular signal transduction -- Genetic aspects, Cellular signal transduction -- Research, Health, Psychology and mental health
Published: 2008

47. Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Author: Andlauer, Till F.M., Guzman-Parra, Jose, Streit, Fabian, Strohmaier, Jana, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez, Fermin Perez, Haro González, Jesus, Orozco Diaz, Guillermo, de Diego-Otero, Yolanda, Moreno-Küstner, Berta, Auburger, Georg, Degenhardt, Franziska, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hoffmann, Per, Frank, Josef, Foo, Jerome C., Treutlein, Jens, Witt, Stephanie H., Cichon, Sven, Kogevinas, Manolis, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M.Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, José Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Hipolito, Maria, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Mühleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O’Donovan, Claire, Loohuis, Loes M.Olde, Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Richards, Alexander L., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Spijker, Anne T., Clair, David St, Steffens, Michael, Strauss, John S., Szelinger, Szabolcs, Thompson, Robert C., EThorgeirsson, Thorgeir, Vedde, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Børglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gill, Michael, Martin, Nicholas G., Schofield, Peter R., Sullivan, Patrick F., Adams, Mark J., Colodro-Conde, Lucía, Derks, Eske M., Howard, David M., Lind, Penelope A., Mehta, Divya, Nyholt, Dale R., Smith, Daniel J., Visscher, Peter M., other, and, Andlauer, Till F.M., Guzman-Parra, Jose, Streit, Fabian, Strohmaier, Jana, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez, Fermin Perez, Haro González, Jesus, Orozco Diaz, Guillermo, de Diego-Otero, Yolanda, Moreno-Küstner, Berta, Auburger, Georg, Degenhardt, Franziska, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hoffmann, Per, Frank, Josef, Foo, Jerome C., Treutlein, Jens, Witt, Stephanie H., Cichon, Sven, Kogevinas, Manolis, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R.I., Gaspar, Héléna A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M.Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Fraser, Christine, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, José Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Hipolito, Maria, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Mühleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O’Donovan, Claire, Loohuis, Loes M.Olde, Ori, Anil P.S., Oruc, Lilijana, Ösby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Céline S., Rice, John P., Richards, Alexander L., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Spijker, Anne T., Clair, David St, Steffens, Michael, Strauss, John S., Szelinger, Szabolcs, Thompson, Robert C., EThorgeirsson, Thorgeir, Vedde, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Boehnke, Michael, Børglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gill, Michael, Martin, Nicholas G., Schofield, Peter R., Sullivan, Patrick F., Adams, Mark J., Colodro-Conde, Lucía, Derks, Eske M., Howard, David M., Lind, Penelope A., Mehta, Divya, Nyholt, Dale R., Smith, Daniel J., Visscher, Peter M., and other, and
Abstract: Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development.
Published: 2021

48. A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family

Author: Baysal, Bora E., Willett-Brozick, Joan E., Badner, Judith A., Corona, Winston, Ferrell, Robert E., Nimgaonkar, Vishwajit L., and Detera-Wadleigh, Sevilla D.
Published: 2002
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49. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: bipolar disorder

Author: Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, Nurnberger, John I., Jr., Craddock, Nick, DePaulo, J. Raymond, Baron, Miron, Gershon, Elliot S., Ekholm, Jenny, Cichon, Sven, Turecki, Gustavo, Claes, Stephan, Kelsoe, John R., Schofield, Peter R., Badenhop, Renee F., Morissette, J., Coon, Hilary, Blackwood, Douglas, McInnes, L. Alison, Foroud, Tatiana, Edenberg, Howard J., Reich, Theodore, Rice, John P., Goate, Alison, McInnis, Melvin G., McMahon, Francis J., Badner, Judith A., Goldin, Lynn R., Bennett, Phil, Willour, Virginia L., Zandi, Peter P., Liu, Jianjun, Gilliam, Conrad, Juo, Suh-Hang, Berrettini, Wade H., Yoshikawa, Takeo, Peltonen, Leena, Lonnqvist, Jouko, Nothen, Markus M., Schumacher, Johannes, Windemuth, Christine, Rietschel, Marcella, Propping, Peter, Maier, Wolfgang, Alda, Martin, Grof, Paul, Rouleau, Guy A., Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Adolfsson, Rolf, Spence, M. Anne, Luebbert, Hermann, Adams, Linda J., Donald, Jennifer A., Mitchell, Philip B., Barden, Nicholas, Shink, Eric, Byerley, William, Muir, Walter, Visscher, Peter M., Macgregor, Stuart, Gurling, Hugh, Kalsi, Gursharan, McQuillin, Andrew, Escamilla, Michael A., Reus, Victor I., Leon, Pedro, Freimer, Nelson B., Ewald, Henrik, Kruse, Torben A., Mors, Ole, Radhakrishna, Uppala, Blouin, Jean-Louis, Antonarakis, Stylianos E., and Akarsu, Nurten
Subjects: Bipolar disorder -- Research, Bipolar disorder -- Genetic aspects, Schizophrenia -- Research, Schizophrenia -- Genetic aspects, Biological sciences
Published: 2003

50. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series *

Author: Hattori, Eiji, Liu, Chunyu, Badner, Judith A., Bonner, Tom I., Christian, Susan L., Maheshwari, Manjula, Detera-Wadleigh, Sevilla D., Gibbs, Richard A., and Gershon, Elliot S.
Subjects: Bipolar disorder -- Genetic aspects, Genetic polymorphisms -- Research, Overlapping genes, Biological sciences
Published: 2003

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