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2. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Author

Consortium, Cross-Disorder Group of the Psychiatric Genomics, Lee, Phil H, Anttila, Verneri, Won, Hyejung, Feng, Yen-Chen A, Rosenthal, Jacob, Zhu, Zhaozhong, Tucker-Drob, Elliot M, Nivard, Michel G, Grotzinger, Andrew D, Posthuma, Danielle, Wang, Meg M-J, Yu, Dongmei, Stahl, Eli A, Walters, Raymond K, Anney, Richard JL, Duncan, Laramie E, Ge, Tian, Adolfsson, Rolf, Banaschewski, Tobias, Belangero, Sintia, Cook, Edwin H, Coppola, Giovanni, Derks, Eske M, Hoekstra, Pieter J, Kaprio, Jaakko, Keski-Rahkonen, Anna, Kirov, George, Kranzler, Henry R, Luykx, Jurjen J, Rohde, Luis A, Zai, Clement C, Agerbo, Esben, Arranz, MJ, Asherson, Philip, Bækvad-Hansen, Marie, Baldursson, Gísli, Bellgrove, Mark, Belliveau, Richard A, Buitelaar, Jan, Burton, Christie L, Bybjerg-Grauholm, Jonas, Casas, Miquel, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Søren, Demontis, Ditte, Doyle, Alysa E, Dumont, Ashley, Elia, Josephine, Grove, Jakob, Gudmundsson, Olafur O, Haavik, Jan, Hakonarson, Hakon, Hansen, Christine S, Hartman, Catharina A, Hawi, Ziarih, Hervás, Amaia, Hougaard, David M, Howrigan, Daniel P, Huang, Hailiang, Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Leung, Patrick WL, Loo, Sandra K, Martin, Joanna, Martin, Alicia R, McGough, James J, Medland, Sarah E, Moran, Jennifer L, Mors, Ole, Mortensen, Preben B, Oades, Robert D, Palmer, Duncan S, Pedersen, Carsten B, Pedersen, Marianne G, Peters, Triinu, Poterba, Timothy, Poulsen, Jesper B, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Ribasés, Marta, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Satterstrom, F Kyle, Schachar, Russell, Artigas, Maria Soler, Steinberg, Stacy, Stefansson, Hreinn, Turley, Patrick, Walters, G Bragi, Team, 23andMe Research, Werge, Thomas, Zayats, Tetyana, and Arking, Dan E

Subjects
Neurosciences, Serious Mental Illness, Human Genome, Schizophrenia, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Genetics, Pediatric, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Genetic Pleiotropy, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mental Disorders, Neurogenesis, Quantitative Trait Loci, Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu, Cross-Disorder Group of the Psychiatric Genomics Consortium, GWAS, Psychiatric genetics, cross-disorder genetics, functional genomics, gene expression, genetic architecture, genetic correlation, neurodevelopment, pleiotropy, psychiatric disorders, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.

Published
2019

3. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Author

Lee, Phil H., Anttila, Verneri, Won, Hyejung, Feng, Yen-Chen A., Rosenthal, Jacob, Zhu, Zhaozhong, Tucker-Drob, Elliot M., Nivard, Michel G., Grotzinger, Andrew D., Posthuma, Danielle, Wang, Meg M.-J., Yu, Dongmei, Stahl, Eli A., Walters, Raymond K., Anney, Richard J.L., Duncan, Laramie E., Ge, Tian, Adolfsson, Rolf, Banaschewski, Tobias, Belangero, Sintia, Cook, Edwin H., Coppola, Giovanni, Derks, Eske M., Hoekstra, Pieter J., Kaprio, Jaakko, Keski-Rahkonen, Anna, Kirov, George, Kranzler, Henry R., Luykx, Jurjen J., Rohde, Luis A., Zai, Clement C., Agerbo, Esben, Arranz, M.J., Asherson, Philip, Bækvad-Hansen, Marie, Baldursson, Gísli, Bellgrove, Mark, Belliveau, Richard A., Jr., Buitelaar, Jan, Burton, Christie L., Bybjerg-Grauholm, Jonas, Casas, Miquel, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Søren, Demontis, Ditte, Doyle, Alysa E., Dumont, Ashley, Elia, Josephine, Grove, Jakob, Gudmundsson, Olafur O., Haavik, Jan, Hakonarson, Hakon, Hansen, Christine S., Hartman, Catharina A., Hawi, Ziarih, Hervás, Amaia, Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Leung, Patrick W.L., Loo, Sandra K., Martin, Joanna, Martin, Alicia R., McGough, James J., Medland, Sarah E., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Oades, Robert D., Palmer, Duncan S., Pedersen, Carsten B., Pedersen, Marianne G., Peters, Triinu, Poterba, Timothy, Poulsen, Jesper B., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Ribasés, Marta, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Satterstrom, F. Kyle, Schachar, Russell, Artigas, Maria Soler, Steinberg, Stacy, Stefansson, Hreinn, Turley, Patrick, Walters, G. Bragi, Werge, Thomas, Zayats, Tetyana, Arking, Dan E., Bettella, Francesco, Buxbaum, Joseph D., Christensen, Jane H., Collins, Ryan L., Coon, Hilary, De Rubeis, Silvia, Delorme, Richard, Grice, Dorothy E., Hansen, Thomas F., Holmans, Peter A., Hope, Sigrun, Hultman, Christina M., Klei, Lambertus, Ladd-Acosta, Christine, Magnusson, Pall, Nærland, Terje, Nyegaard, Mette, Pinto, Dalila, Qvist, Per, Rehnström, Karola, Reichenberg, Abraham, Reichert, Jennifer, Roeder, Kathryn, Rouleau, Guy A., Saemundsen, Evald, Sanders, Stephan J., Sandin, Sven, St Pourcain, Beate, Stefansson, Kari, Sutcliffe, James S., Talkowski, Michael E., Weiss, Lauren A., Willsey, A. Jeremy, Agartz, Ingrid, Akil, Huda, Albani, Diego, Alda, Martin, Als, Thomas D., Anjorin, Adebayo, Backlund, Lena, Bass, Nicholas, Bauer, Michael, Baune, Bernhard T., Bellivier, Frank, Bergen, Sarah E., Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Bøen, Erlend, Budde, Monika, Bunney, William, Burmeister, Margit, Byerley, William, Byrne, Enda M., Cichon, Sven, Clarke, Toni-Kim, Coleman, Jonathan R.I., Craddock, Nicholas, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Di Florio, Arianna, Elvsåshagen, Torbjørn, Etain, Bruno, Fischer, Sascha B., Forstner, Andreas J., Forty, Liz, Frank, Josef, Frye, Mark, Fullerton, Janice M., Gade, Katrin, Gaspar, Héléna A., Gershon, Elliot S., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Gordon-Smith, Katherine, Green, Melissa J., Greenwood, Tiffany A., Grigoroiu-Serbanescu, Maria, Guzman-Parra, José, Hauser, Joanna, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Holland, Dominic, Jamain, Stéphane, Jones, Ian, Jones, Lisa A., Kandaswamy, Radhika, Kelsoe, John R., Kennedy, James L., Joachim, Oedegaard Ketil, Kittel-Schneider, Sarah, Kogevinas, Manolis, Koller, Anna C., Lavebratt, Catharina, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Loohuis, Loes M.O., Lucae, Susanne, Maaser, Anna, Malt, Ulrik F., Martin, Nicholas G., Martinsson, Lina, McElroy, Susan L., McMahon, Francis J., McQuillin, Andrew, Melle, Ingrid, Metspalu, Andres, Millischer, Vincent, Mitchell, Philip B., Montgomery, Grant W., Morken, Gunnar, Morris, Derek W., Müller-Myhsok, Bertram, Mullins, Niamh, Myers, Richard M., Nievergelt, Caroline M., Nordentoft, Merete, Adolfsson, Annelie Nordin, Nöthen, Markus M., Ophoff, Roel A., Owen, Michael J., Paciga, Sara A., Pato, Carlos N., Pato, Michele T., Perlis, Roy H., Perry, Amy, Potash, James B., Reinbold, Céline S., Rietschel, Marcella, Rivera, Margarita, Roberson, Mary, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Serretti, Alessandro, Sigurdsson, Engilbert, Smeland, Olav B., Stordal, Eystein, Streit, Fabian, Strohmaier, Jana, Thorgeirsson, Thorgeir E., Treutlein, Jens, Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Wang, Yunpeng, Witt, Stephanie H., Zandi, Peter, Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Aschauer, Harald, Baker, Jessica H., Bencko, Vladimir, Bergen, Andrew W., Birgegård, Andreas, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Clementi, Maurizio, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dina, Christian, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Espeseth, Thomas, Fernández-Aranda, Fernando, Fichter, Manfred M., Foretova, Lenka, Forzan, Monica, Gambaro, Giovanni, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guo, Yiran, Halmi, Katherine A., Hatzikotoulas, Konstantinos, Hebebrand, Johannes, Helder, Sietske G., Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Imgart, Hartmut, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kaye, Walter H., Kennedy, Martin A., Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., Landén, Mikael, Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lichtenstein, Paul, Maj, Mario, Marsal, Sara, McDevitt, Sara, Mitchell, James, Monteleone, Palmiero, Monteleone, Alessio Maria, Munn-Chernoff, Melissa A., Nacmias, Benedetta, Navratilova, Marie, O’Toole, Julie K., Padyukov, Leonid, Pantel, Jacques, Papezova, Hana, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Roberts, Marion, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Schmidt, Ulrike, Seitz, Jochen, Slachtova, Lenka, Slof-Op‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Southam, Lorraine, Strober, Michael, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tziouvas, Konstantinos, van Elburg, Annemarie A., Wade, Tracey D., Wagner, Gudrun, Walton, Esther, Watson, Hunna J., Wichmann, H-Erich, Woodside, D. Blake, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Adams, Mark J., Andlauer, Till F.M., Berger, Klaus, Binder, Elisabeth B., Boomsma, Dorret I., Castelao, Enrique, Colodro-Conde, Lucía, Direk, Nese, Docherty, Anna R., Domenici, Enrico, Domschke, Katharina, Dunn, Erin C., Foo, Jerome C., de. Geus, E.J.C., Grabe, Hans J., Hamilton, Steven P., Horn, Carsten, Hottenga, Jouke-Jan, Howard, David, Ising, Marcus, Kloiber, Stefan, Levinson, Douglas F., Lewis, Glyn, Magnusson, Patrik K.E., Mbarek, Hamdi, Middeldorp, Christel M., Mostafavi, Sara, Nyholt, Dale R., Penninx, Brenda WJH., Peterson, Roseann E., Pistis, Giorgio, Porteous, David J., Preisig, Martin, Quiroz, Jorge A., Schaefer, Catherine, Schulte, Eva C., Shi, Jianxin, Smith, Daniel J., Thomson, Pippa A., Tiemeier, Henning, Uher, Rudolf, van der Auwera, Sandra, Weissman, Myrna M., Alexander, Madeline, Begemann, Martin, Bramon, Elvira, Buccola, Nancy G., Cairns, Murray J., Campion, Dominique, Carr, Vaughan J., Cloninger, C. Robert, Cohen, David, Collier, David A., Corvin, Aiden, DeLisi, Lynn E., Donohoe, Gary, Dudbridge, Frank, Duan, Jubao, Freedman, Robert, Gejman, Pablo V., Golimbet, Vera, Godard, Stephanie, Ehrenreich, Hannelore, Hartmann, Annette M., Henskens, Frans A., Ikeda, Masashi, Iwata, Nakao, Jablensky, Assen V., Joa, Inge, Jönsson, Erik G., Kelly, Brian J., Knight, Jo, Konte, Bettina, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Lerer, Bernard, Loughland, Carmel M., Malhotra, Anil K., Mallet, Jacques, McDonald, Colm, Mitjans, Marina, Mowry, Bryan J., Murphy, Kieran C., Murray, Robin M., O’Neill, F. Anthony, Oh, Sang-Yun, Palotie, Aarno, Pantelis, Christos, Pulver, Ann E., Petryshen, Tracey L., Quested, Digby J., Riley, Brien, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Scott, Rodney J., Sham, Pak C., Silverman, Jeremy M., Sim, Kang, Steixner, Agnes A., Tooney, Paul A., van Os, Jim, Vawter, Marquis P., Walsh, Dermot, Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Wormley, Brandon K., Zhang, Fuquan, Androutsos, Christos, Arnold, Paul D., Barr, Cathy L., Barta, Csaba, Bey, Katharina, Bienvenu, O. Joseph, Black, Donald W., Brown, Lawrence W., Budman, Cathy, Cath, Danielle, Cheon, Keun-Ah, Ciullo, Valentina, Coffey, Barbara J., Cusi, Daniele, Davis, Lea K., Denys, Damiaan, Depienne, Christel, Dietrich, Andrea, Eapen, Valsamma, Falkai, Peter, Fernandez, Thomas V., Garcia-Delgar, Blanca, Geller, Daniel A., Gilbert, Donald L., Grados, Marco A., Greenberg, Erica, Grünblatt, Edna, Hagstrøm, Julie, Hanna, Gregory L., Hartmann, Andreas, Hedderly, Tammy, Heiman, Gary A., Heyman, Isobel, Hong, Hyun Ju, Huang, Alden, Huyser, Chaim, Ibanez-Gomez, Laura, Khramtsova, Ekaterina A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Koh, Yun-Joo, Konstantinidis, Anastasios, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Lochner, Christine, Ludolph, Andrea G., Madruga-Garrido, Marcos, Malaty, Irene, Maras, Athanasios, McCracken, James T., Meijer, Inge A., Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten R., Münchau, Alexander, Murphy, Tara L., Naarden, Allan, Nagy, Peter, Nestadt, Gerald, Nestadt, Paul S., Nicolini, Humberto, Nurmi, Erika L., Okun, Michael S., Paschou, Peristera, Piras, Fabrizio, Piras, Federica, Pittenger, Christopher, Plessen, Kerstin J., Richter, Margaret A., Rizzo, Renata, Robertson, Mary, Roessner, Veit, Ruhrmann, Stephan, Samuels, Jack F., Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey, Song, Dong-Ho, Song, Jungeun, Spalletta, Gianfranco, Stein, Dan J., Stewart, S Evelyn, Storch, Eric A., Stranger, Barbara, Stuhrmann, Manfred, Tarnok, Zsanett, Tischfield, Jay A., Tübing, Jennifer, Visscher, Frank, Vulink, Nienke, Wagner, Michael, Walitza, Susanne, Wanderer, Sina, Woods, Martin, Worbe, Yulia, Zai, Gwyneth, Zinner, Samuel H., Sullivan, Patrick F., Franke, Barbara, Daly, Mark J., Bulik, Cynthia M., McIntosh, Andrew M., O’Donovan, Michael C., Zheutlin, Amanda, Andreassen, Ole A., Børglum, Anders D., Breen, Gerome, Edenberg, Howard J., Fanous, Ayman H., Faraone, Stephen V., Gelernter, Joel, Mathews, Carol A., Mattheisen, Manuel, Mitchell, Karen S., Neale, Michael C., Nurnberger, John I., Ripke, Stephan, Santangelo, Susan L., Scharf, Jeremiah M., Stein, Murray B., Thornton, Laura M., Walters, James T.R., Wray, Naomi R., Geschwind, Daniel H., Neale, Benjamin M., Kendler, Kenneth S., and Smoller, Jordan W.

Published
2019
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4. 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

5. Epigenetics in child psychiatry

Author

Elia, Josephine, primary, Izaki, Yumiko, additional, Borreggine, Kristin, additional, Yost, Oliver, additional, Castro, Amanda, additional, Chang, Connie, additional, Ambrosini, Alexander, additional, Fels, Samuel, additional, Poddar, Karuna, additional, Rayfield, Jessica, additional, Frizzola, Meg, additional, and Hakonarson, Hakon, additional

Published
2021
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6. List of contributors

Author

Abdolmaleky, Hamid Mostafavi, primary, Akbarian, Schahram, additional, Ambrosini, Alexander, additional, Avramopoulos, Dimitrios, additional, Bendersky, Cari J., additional, Bendl, Jaroslav, additional, Bérubé, Nathalie G., additional, Bhat, Unis Ahmad, additional, Borreggine, Kristin, additional, Braun, Patricia R., additional, Brennand, Kristen J., additional, Castro, Amanda, additional, Chakravarty, Sumana, additional, Chang, Connie, additional, Cohen, Sophie, additional, Coppedè, Fabio, additional, Dahrendorff, Jan, additional, Dunn, Jeffrey T., additional, Eberwine, James H., additional, Elia, Josephine, additional, Fang, Gang, additional, Fels, Samuel, additional, Fernando, Michael B., additional, Franklin, Tamara Brook, additional, Fries, Gabriel R., additional, Frizzola, Meg, additional, Fullard, John F., additional, Ganguly, Sebanti, additional, Gapp, Katharina, additional, Garcia, Meilin Fernandez, additional, Gatta, Eleonora, additional, Grayson, Dennis R., additional, Gropman, Andrea L., additional, Guidotti, Alessandro, additional, Gupta, Praveer, additional, Hakonarson, Hakon, additional, Hunter, Richard G., additional, Imamura, Takuya, additional, Izaki, Yumiko, additional, Jakub, Taryn, additional, Keung, Crystal, additional, Kramer, Jamie M., additional, Kumar, Arvind, additional, Kundakovic, Marija, additional, Labonté, Benoit, additional, LaMarca, Elizabeth A., additional, Lee, Richard S., additional, Lima, Camila N.C., additional, Lutz, Pierre-Eric, additional, Matt, Stephanie M., additional, Milian, Allison A., additional, Miyashiro, Kevin Y., additional, Murgatroyd, Chris, additional, Nakashima, Kinichi, additional, Paul, Bidisha, additional, Peedicayil, Jacob, additional, Pinjari, Omar F., additional, Poddar, Karuna, additional, Potash, James B., additional, Powell, Samuel K., additional, Quesnel, Katerine, additional, Rayfield, Jessica, additional, Reddy, R. Gajendra, additional, Richter, Troy A., additional, Roth, Eric D., additional, Roth, Tania L., additional, Roussos, Panos, additional, Ruzicka, W. Brad, additional, Salarda, Erika M., additional, Santhosh, Samuel, additional, Saudagar, Vikram, additional, Stoccoro, Andrea, additional, Syed, Shariful A., additional, Thiagalingam, Sam, additional, Tollefsbol, Trygve O., additional, Turecki, Gustavo, additional, Uddin, Monica, additional, Uesaka, Masahiro, additional, Walker, Deena, additional, Yamamoto, Naoki, additional, Yost, Oliver, additional, and Zannas, Anthony S., additional

Published
2021
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7. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

Author

Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Albayrak, Özgür, Anney, Richard J.L., Vasquez, Alejandro Arias, Arranz, Maria Jesús, Asherson, Philip, Banaschewski, Tobias, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Mortensen, Preben Bo, Børglum, Anders, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Soeren, Daly, Mark J., Demontis, Ditte, Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Faraone, Stephen V., Föcker, Manuel, Franke, Barbara, Freitag, Christine, Gelernter, Joel, Gill, Michael, Grevet, Eugenio, Haavik, Jan, Hakonarson, Hakon, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Kranzler, Henry, Kuntsi, Jonna, Lambregts-Rommelse, Nanda, Langley, Kate, Lehmkuhl, Gerd, Lesch, Klaus-Peter, Loo, Sandra K., Martin, Joanna, McGough, James J., Medland, Sarah E., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mulas, Fernando, Mulligan, Aisling, Neale, Benjamin M., Nelson, Stan F., Nguyen, T. Trang, O’Donovan, Michael C., Oades, Robert D., Owen, Michael J., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Renner, Tobias J., Rhode, Luis, Ribasés, Marta, Rietschel, Marcella, Ripke, Stephan, Rivero, Olga, Roeyers, Herbert, Romanos, Marcel, Romanos, Jasmin, Mota, Nina Roth, Rothenberger, Aribert, Sánchez-Mora, Cristina, Schachar, Russell, Schäfer, Helmut, Scherag, André, Schimmelmann, Benno G., Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Sonuga-Barke, Edmund J.S., Steinhausen, Hans-Christoph, Sullivan, Patrick F., Thapar, Anita, Thompsom, Margaret, Todorov, Alexandre, Waldman, Irwin, Walitza, Susanne, Walters, Raymond, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Agerbo, Esben, Als, Thomas Damm, Bækved-Hansen, Marie, Belliveau, Rich, Børglum, Anders D., Bybjerg-Grauholm, Jonas, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dalsgaard, Søren, Dumont, Ashley, Goldstein, Jacqueline, Grove, Jakob, Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian, Martin, Alicia R., Mattheisen, Manuel, Moran, Jennifer, Mors, Ole, Nordentoft, Merete, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Poterba, Timothy, Poulsen, Jesper Buchhave, Robinson, Elise B., Satterstrom, F. Kyle, Stevens, Christine, Turley, Patrick, Walters, Raymond K., Werge, Thomas, Lee, S. Hong, Robinson, Elise, Brikell, Isabell, Ghirardi, Laura, Larsson, Henrik, Lichtenstein, Paul, Eriksson, Nicholas, and Wray, Naomi R.

Published
2018
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8. 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

9. Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

Author

Williams, Nigel M, Franke, Barbara, Mick, Eric, Anney, Richard JL, Freitag, Christine M, Gill, Michael, Thapar, Anita, O'Donovan, Michael C, Owen, Michael J, Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J, Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C, Crosbie, Jennifer, Marshall, Christian R, Schachar, Russell, Scherer, Stephen W, Todorov, Alexandre, Smalley, Susan L, Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, and Faraone, Stephen V

Subjects
Human Genome, Clinical Research, Mental Health, Genetics, Pediatric, Attention Deficit Hyperactivity Disorder (ADHD), Brain Disorders, Serious Mental Illness, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Attention Deficit Disorder with Hyperactivity, Canada, Causality, Child, Child, Preschool, Female, Gene Dosage, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, In Situ Hybridization, Fluorescence, Inheritance Patterns, Polymorphism, Single Nucleotide, Receptors, Nicotinic, Segmental Duplications, Genomic, United Kingdom, United States, alpha7 Nicotinic Acetylcholine Receptor, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

ObjectiveAttention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology.MethodThe authors performed a genome-wide analysis of large, rare CNVs (100 kb in size, which segregated into 912 independent loci. Overall, the rate of rare CNVs >100 kb was 1.15 times higher in ADHD case subjects relative to comparison subjects, with duplications spanning known genes showing a 1.2-fold enrichment. In accordance with a previous study, rare CNVs >500 kb showed the greatest enrichment (1.28-fold). CNVs identified in ADHD case subjects were significantly enriched for loci implicated in autism and in schizophrenia. Duplications spanning the CHRNA7 gene at chromosome 15q13.3 were associated with ADHD in single-locus analysis. This finding was consistently replicated in an additional 2,242 ADHD case subjects and 8,552 comparison subjects from four independent cohorts from the United Kingdom, the United States, and Canada. Presence of the duplication at 15q13.3 appeared to be associated with comorbid conduct disorder.ConclusionsThese findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. With a frequency of 0.6% in the populations investigated and a relatively large effect size (odds ratio=2.22, 95% confidence interval=1.5–3.6), this locus could be an important contributor to ADHD etiology.

Published
2012

10. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Author

Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., and Hakonarson, Hakon

Published
2020
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14. List of Contributors

Author

Driver, David, primary, Thomas, Shari S., additional, Ames, Maxine, additional, Anvari, Afsoon, additional, Bacon, Victoria, additional, Begtrup, Rebecca, additional, Berkowitz, Steven J., additional, Brown, Lawrence W., additional, Bursch, Brenda, additional, Busa, Samantha, additional, Chatoor, Irene, additional, Crawford, Jessica, additional, Dale, Russell C., additional, Dalton, Jonathan, additional, Dell, Mary L., additional, DiDonato, Stephen, additional, Driver, David, additional, Elia, Josephine, additional, Frankovich, Jennifer, additional, Goldsmith, Michelle, additional, Gordon, Alexander J., additional, Hilmas, Elora, additional, Ilipilla, Geeta, additional, Janssen, Aron, additional, Unsal, Grace, additional, Kelly, Michael, additional, Loeb, Francis, additional, McHugh, Anne, additional, Mishra, Gaurav, additional, Or-Geva, Noga, additional, Oyegbile, Temitayo O., additional, Pranckun, Zachariah D., additional, Rapoport, Judy, additional, Robb, Adelaide S., additional, Salpekar, Jay, additional, Sequeira, Stefanie, additional, Shaw, Richard, additional, Starner, Meghan, additional, Thienemann, Margo, additional, Timko, Alix, additional, Tran, Paula, additional, Van Mater, Heather, additional, Weaver, Laurel, additional, Wernick, Hunter, additional, Wortzel, Joshua, additional, Zecavati, Nassim, additional, and Zhou, Dale, additional

Published
2018
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15. Pediatric Catatonia

Author

Starner, Meghan, primary, Ames, Maxine, additional, Gordon, Alexander J., additional, Dell, Mary Lynn, additional, Hilmas, Elora, additional, and Elia, Josephine, additional

Published
2018
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19. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Author

Weiner, Daniel J., Ling, Emi, Erdin, Serkan, Tai, Derek J. C., Yadav, Rachita, Grove, Jakob, Fu, Jack M., Nadig, Ajay, Carey, Caitlin E., Baya, Nikolas, Bybjerg-Grauholm, Jonas, Mortensen, Preben B., Werge, Thomas, Demontis, Ditte, Mors, Ole, Nordentoft, Merete, Als, Thomas D., Baekvad-Hansen, Marie, Rosengren, Anders, Havdahl, Alexandra, Hedemand, Anne, Palotie, Aarno, Chakravarti, Aravinda, Arking, Dan, Sulovari, Arvis, Starnawska, Anna, Thiruvahindrapuram, Bhooma, de Leeuw, Christiaan, Carey, Caitlin, Ladd-Acosta, Christine, van der Merwe, Celia, Devlin, Bernie, Cook, Edwin H., Eichler, Evan, Corfield, Elisabeth, Dieleman, Gwen, Schellenberg, Gerard, Hakonarson, Hakon, Coon, Hilary, Dziobek, Isabel, Vorstman, Jacob, Girault, Jessica, Sutcliffe, James S., Duan, Jinjie, Nurnberger, John, Hallmayer, Joachim, Buxbaum, Joseph, Piven, Joseph, Weiss, Lauren, Davis, Lea, Janecka, Magdalena, Mattheisen, Manuel, State, Matthew W., Gill, Michael, Daly, Mark, Uddin, Mohammed, Andreassen, Ole, Szatmari, Peter, Lee, Phil Hyoun, Anney, Richard, Ripke, Stephan, Satterstrom, Kyle, Santangelo, Susan, Kuo, Susan, van Elst, Ludger Tebartz, Rolland, Thomas, Bougeron, Thomas, Polderman, Tinca, Turner, Tychele, Underwood, Jack, Manikandan, Veera, Pillalamarri, Vamsee, Warrier, Varun, Philipsen, Alexandra, Reif, Andreas, Hinney, Anke, Cormand, Bru, Bau, Claiton H. D., Rovaris, Diego Luiz, Sonuga-Barke, Edmund, Corfield, Elizabeth, Grevet, Eugenio Horacio, Salum, Giovanni, Larsson, Henrik, Buitelaar, Jan, Haavik, Jan, McGough, James, Kuntsi, Jonna, Elia, Josephine, Lesch, Klaus-Peter, Klein, Marieke, Bellgrove, Mark, Tesli, Martin, Leung, Patrick W. L., Pan, Pedro M., Dalsgaard, Soren, Loo, Sandra, Medland, Sarah, Faraone, Stephen V., Reichborn-Kjennerud, Ted, Banaschewski, Tobias, Hawi, Ziarih, Berretta, Sabina, Macosko, Evan Z., Sebat, Jonathan, O’Connor, Luke J., Hougaard, David M., Børglum, Anders D., Talkowski, Michael E., McCarroll, Steven A., Robinson, Elise B., Pediatrics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Hinney, Anke (Beitragende*r), Child and Adolescent Psychiatry / Psychology, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Complex Trait Genetics, and Clinical Developmental Psychology

Subjects
Genètica humana, DNA Copy Number Variations, Autism, 3112 Neurosciences, Medizin, Chromosomes, Cromosomes, Human genetics, Genetics, Humans, Autistic Disorder, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, Autisme, Chromosomes, Human, Pair 16, Autistic Disorder/genetics
Abstract

in press, weitere Verfasser:innen aus Einrichtungen außerhalb der Universität Duisburg-Essen sind nicht aufgeführt. The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of autism’s common polygenic influences. The region also includes the mechanistically cryptic and autism-associated 16p11.2 copy number variant. Analysis of RNA-sequencing data revealed that both the common polygenic influences within 16p and the 16p11.2 deletion were associated with decreased average gene expression across 16p. The transcriptional effects of the rare deletion and diffuse common variation were correlated at the level of individual genes and analysis of Hi-C data revealed patterns of chromatin contact that may explain this transcriptional convergence. These results reflect a new approach for extracting biological insight from genetic association data and suggest convergence of common and rare genetic influences on autism at 16p.

Published
2022
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20. Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

Author

Neale, Benjamin M., Medland, Sarah E., Ripke, Stephan, Asherson, Philip, Franke, Barbara, Lesch, Klaus-Peter, Faraone, Stephen V., Nguyen, Thuy Trang, Schafer, Helmut, Holmans, Peter, Daly, Mark, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Walitza, Susanne, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Buitelaar, Jan, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Gill, Michael, Anney, Richard J. L., Langely, Kate, O'Donovan, Michael, Williams, Nigel, Owen, Michael, Thapar, Anita, Kent, Lindsey, Sergeant, Joseph, Roeyers, Herbert, Mick, Eric, Biederman, Joseph, Doyle, Alysa, Smalley, Susan, Loo, Sandra, Hakonarson, Hakon, Elia, Josephine, Todorov, Alexandre, Miranda, Ana, Mulas, Fernando, Ebstein, Richard P., Rothenberger, Aribert, Banaschewski, Tobias, Oades, Robert D., Sonuga-Barke, Edmund, McGough, James, Nisenbaum, Laura, Middleton, Frank, Hu, Xiaolan, and Nelson, Stan

Abstract

Objective: Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of existing studies to boost statistical power. Method: We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the University of California, Los Angeles, Washington University, and Massachusetts General Hospital (PUWMa). The final sample size consisted of 2,064 trios, 896 cases, and 2,455 controls. For each study, we imputed HapMap single nucleotide polymorphisms, computed association test statistics and transformed them to z-scores, and then combined weighted z-scores in a meta-analysis. Results: No genome-wide significant associations were found, although an analysis of candidate genes suggests that they may be involved in the disorder. Conclusions: Given that ADHD is a highly heritable disorder, our negative results suggest that the effects of common ADHD risk variants must, individually, be very small or that other types of variants, e.g., rare ones, account for much of the disorder's heritability. (Contains 3 figures and 3 tables.)

Published
2010
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24. PANDAS with Catatonia: A Case Report

Author

Elia, Josephine, Dell, Mary Lynn, and Friedman, David F.

Abstract

This is a report of an 11-year-old, prepubertal boy with acute-onset urinary urgency and frequency, obsessions and compulsions related to urination, severe mood lability, inattention, impulsivity, hyperactivity, and intermittent periods of immobilization. Fever, cough, otitis, and sinusitis preceded neuropsychiatric symptoms. Antistreptolysin O and DNAse B antibody titers were elevated, and magnetic resonance imaging revealed bilateral diffuse caudate nuclei swelling. Plasmapheresis resulted in significant and rapid clinical improvement of obsessive-compulsive disorder symptoms and a simultaneous decrease in basal ganglia swelling, consistent with an immune-mediated pathophysiological process involving group A [beta]-hemolytic streptococci. Hyperactivity, impulsivity, and inattention improved with lorazepam, suggesting that the attention-deficit/hyperactivity disorder symptoms could be manifestations of catatonia.

Published
2005

26. Pediatric cardiovascular safety: Challenges in drug and device development and clinical application

Author

Bates, Katherine E., Vetter, Victoria L., Li, Jennifer S., Cummins, Susan, Aguel, Fernando, Almond, Christopher, Dubin, Anne M., Elia, Josephine, Finkle, John, Hausner, Elizabeth A., Joseph, Francesca, Karkowsky, Abraham M., Killeen, Matthew, Lemacks, Jodi, Mathis, Lisa, McMahon, Ann W., Pinnow, Ellen, Rodriguez, Ignacio, Stockbridge, Norman L., Stockwell, Margaret, Tassinari, Melissa, and Krucoff, Mitchell W.

Published
2012
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36. Chapter 23 - Epigenetics in child psychiatry

Author

Elia, Josephine, Izaki, Yumiko, Borreggine, Kristin, Yost, Oliver, Castro, Amanda, Chang, Connie, Ambrosini, Alexander, Fels, Samuel, Poddar, Karuna, Rayfield, Jessica, Frizzola, Meg, and Hakonarson, Hakon

Published
2021
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39. Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder (Nature Communications, (2021), 12, 1, (576), 10.1038/s41467-020-20443-2)

Author

Demontis, Ditte, Walters, Raymond K., Rajagopal, Veera M., Waldman, Irwin D., Grove, Jakob, Als, Thomas D., Dalsgaard, Søren, Ribasés, Marta, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Andreassen, Ole A., Arranz, Maria Jesús, Banaschewski, Tobias, Bau, Claiton, Bellgrove, Mark, Biederman, Joseph, Brikell, Isabell, Buitelaar, Jan K., Burton, Christie L., Casas, Miguel, Crosbie, Jennifer, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Elizabeth, Corfield C., Grevet, Eugenio, Grizenko, Natalie, Havdahl, Alexandra, Hawi, Ziarih, Hebebrand, Johannes, Hervas, Amaia, Hohmann, Sarah, Haavik, Jan, Joober, Ridha, Kent, Lindsey, Kuntsi, Jonna, Langley, Kate, Larsson, Henrik, Lesch, Klaus-Peter, Leung, Patrick W. L., Liao, Calwing, Loo, Sandra K., Martin, Joanna, Martin, Nicholas G., Medland, Sarah E., Miranda, Ana, Mota, Nina Roth, Oades, Robert D., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Rietschel, Marcella, Roeyers, Herbert, Rohde, Luis Augusto, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Schachar, Russell James, Sengupta, Sarojini, Artigas, Maria Soler, Steinhausen, Hans-Christoph, Thapar, Anita, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Cormand, Bru, Hougaard, David M., Neale, Benjamin M., Franke, Barbara, Faraone, Stephen V., and Børglum, Anders D.

Subjects
Medizin
Abstract

The original version of this Article contained an error in the spelling of the author Marta Ribasés, which was incorrectly given as Marta Ribasas. This has now been corrected in both the PDF and HTML versions of the Article. CA extern, Korrektur zu: 10.1038/s41467-020-20443-2

Published
2021

40. Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Author

Demontis, Ditte, Walters, Raymond K., Rajagopal, Veera M., Waldman, Irwin D., Grove, Jakob, Als, Thomas D., Dalsgaard, Søren, Ribasas, Marta, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, (PGC), ADHD Working Group of the Psychiatric Genomics Consortium, Andreassen, Ole A., Arranz, Maria Jesús, Banaschewski, Tobias, Bau, Claiton, Bellgrove, Mark, Biederman, Joseph, Brikell, Isabell, Buitelaar, Jan K., Burton, Christie L., Casas, Miguel, Crosbie, Jennifer, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Elizabeth, Corfield C., Grevet, Eugenio, Grizenko, Natalie, Havdahl, Alexandra, Hawi, Ziarih, Hebebrand, Johannes, Hervas, Amaia, Hohmann, Sarah, Haavik, Jan, Joober, Ridha, Kent, Lindsey, Kuntsi, Jonna, Langley, Kate, Larsson, Henrik, Lesch, Klaus-Peter, Leung, Patrick W. L., Liao, Calwing, Loo, Sandra K., Martin, Joanna, Martin, Nicholas G., Medland, Sarah E., Miranda, Ana, Mota, Nina Roth, Oades, Robert D., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Rietschel, Marcella, Roeyers, Herbert, Rohde, Luis Augusto, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Schachar, Russell James, Sengupta, Sarojini, Artigas, Maria Soler, Steinhausen, Hans-Christoph, Thapar, Anita, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Cormand, Bru, Hougaard, David M., Neale, Benjamin M., Franke, Barbara, Faraone, Stephen V., Børglum, Anders D., University of St Andrews. School of Medicine, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. Cellular Medicine Division, Institut Català de la Salut, [Demontis D, Rajagopal VM, Als TD] The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark. Center for Genomics and Personalized Medicine, Aarhus, Denmark. Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark. [Walters RK] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [Waldman ID] Department of Psychology, Emory University, Atlanta, GA, USA. [Grove J] The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark. Center for Genomics and Personalized Medicine, Aarhus, Denmark. Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark. [Ribasés M] Unitat de Psiquiatria Genètica, Grup de recerca en Psiquiatria, salut mental i addiccions, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Psiquiatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Biomedical Network Research Center on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain. Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Male, 0301 basic medicine, Multifactorial Inheritance, Trastorns per dèficit d'atenció amb hiperactivitat en els infants, Medizin, General Physics and Astronomy, Genome-wide association study, Comorbidity, Genome-wide association studies, Attention deficit disorder with hyperactivity in children, conducta y mecanismos de la conducta::conducta::conducta y mecanismos de la conducta::conducta::conducta infantil::conducta problemática [PSIQUIATRÍA Y PSICOLOGÍA], Cohort Studies, 0302 clinical medicine, Mental Disorders::Neurodevelopmental Disorders::Attention Deficit and Disruptive Behavior Disorders::Attention Deficit Disorder with Hyperactivity [PSYCHIATRY AND PSYCHOLOGY], Risk Factors, 2.1 Biological and endogenous factors, Medicine, Attention Deficit Disorder with Hyperactivity/epidemiology, Aetiology, Child, China/epidemiology, Violence Research, Pediatric, Multidisciplinary, Genetic Predisposition to Disease/genetics, Attention Deficit and Disruptive Behavior Disorders/epidemiology, Single Nucleotide, 3. Good health, Europe, Mental Health, Attention Deficit and Disruptive Behavior Disorders, Cohort, Genome-Wide Association Study/methods, Attention Deficit Disorder (ADD), Female, medicine.symptom, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Clinical psychology, China, Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Genome-Wide Association Study [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Science, Context (language use), Locus (genetics), QH426 Genetics, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, General Biochemistry, Genetics and Molecular Biology, Europe/epidemiology, 03 medical and health sciences, Aggressiveness in children, Behavioral and Social Science, mental disorders, Genetics, ADHD, Humans, SNP, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, Polymorphism, Author Correction, QH426, Multifactorial Inheritance/genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Aggression, Prevention, Human Genome, DAS, General Chemistry, Agressivitat en els infants, Heritability, medicine.disease, Attention Deficit Hyperactivity Disorder (ADHD), Behavior and Behavior Mechanisms::Behavior::Behavior and Behavior Mechanisms::Behavior::Child Behavior::Problem Behavior [PSYCHIATRY AND PSYCHOLOGY], Brain Disorders, Genòmica, ADHD Working Group of the Psychiatric Genomics Consortium, Trastorn per dèficit d'atenció amb hiperactivitat, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::estudio de asociación genómica completa [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], RC0321, trastornos mentales::trastornos del desarrollo neurológico::trastornos conductuales disruptivos y déficit de atención::trastornos de déficit de atención con hiperactividad [PSIQUIATRÍA Y PSICOLOGÍA], business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Attention-Deficit/Hyperactivity Disorder (ADHD) is a childhood psychiatric disorder often comorbid with disruptive behavior disorders (DBDs). Here, we report a GWAS meta-analysis of ADHD comorbid with DBDs (ADHD + DBDs) including 3802 cases and 31,305 controls. We identify three genome-wide significant loci on chromosomes 1, 7, and 11. A meta-analysis including a Chinese cohort supports that the locus on chromosome 11 is a strong risk locus for ADHD + DBDs across European and Chinese ancestries (rs7118422, P = 3.15×10−10, OR = 1.17). We find a higher SNP heritability for ADHD + DBDs (h2SNP = 0.34) when compared to ADHD without DBDs (h2SNP = 0.20), high genetic correlations between ADHD + DBDs and aggressive (rg = 0.81) and anti-social behaviors (rg = 0.82), and an increased burden (polygenic score) of variants associated with ADHD and aggression in ADHD + DBDs compared to ADHD without DBDs. Our results suggest an increased load of common risk variants in ADHD + DBDs compared to ADHD without DBDs, which in part can be explained by variants associated with aggressive behavior., ADHD is often found to be comorbid with disruptive behavior disorders, but the genetic loci underlying this comorbidity are unknown. Here, the authors have performed a GWAS meta-analysis of ADHD with disruptive behavior disorders, finding three genome-wide significant loci in Europeans, and replicating one in a Chinese cohort.

Published
2021
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42. Epigenetics in Child Psychiatry

Author

Elia, Josephine, primary, Kingsley, Richard, additional, Yost, Oliver, additional, Bongiorno, Charles, additional, Bernacki, Carolyn, additional, Ambrosini, Alexander, additional, Okuyama, Makiko, additional, and Hakonarson, Hakon, additional

Published
2014
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44. List of Contributors

Author

Abdolmaleky, Hamid Mostafavi, primary, Ambrosini, Alexander, additional, Avramopoulos, Dimitrios, additional, Bérubé, Nathalie G., additional, Bernacki, Carolyn, additional, Beveridge, Natalie J., additional, Bhat, Unis Ahmad, additional, Boks, Marco P.M., additional, Bongiorno, Charles, additional, Bustamante, Angela, additional, Chakravarty, Sumana, additional, Coppedè, Fabio, additional, Dong, Erbo, additional, Elia, Josephine, additional, Franklin, Tamara Brook, additional, Grayson, Dennis R., additional, Gropman, Andrea L., additional, Guidotti, Alessandro, additional, Gupta, Praveer, additional, Hakonarson, Hakon, additional, Hing, Benjamin, additional, Hunter, Richard G., additional, Imamura, Takuya, additional, Kaminsky, Zachary A., additional, Kingsley, Richard, additional, Kramer, Jamie M., additional, Kumar, Arvind, additional, Kundakovic, Marija, additional, Labonté, Benoit, additional, Lee, Richard, additional, Lutz, Pierre-Eric, additional, Manev, Hari, additional, Matt, Stephanie, additional, Maze, Ian, additional, McGowan, Patrick O., additional, Murgatroyd, Chris, additional, Nakashima, Kinichi, additional, Okuyama, Makiko, additional, Paul, Bidisha, additional, Peedicayil, Jacob, additional, Potash, James B., additional, Reddy, R Gajendra, additional, Roth, Eric D., additional, Roth, Tania L., additional, Sasaki, Aya, additional, Schoenrock, Sarah Adams, additional, Shinozaki, Gen, additional, Tarantino, Lisa M., additional, Thiagalingam, Sam, additional, Tollefsbol, Trygve O., additional, Toyokawa, Satoshi, additional, Turecki, Gustavo, additional, Uddin, Monica, additional, Uesaka, Masahiro, additional, Wenderski, Wendy, additional, Yamamoto, Naoki, additional, and Yost, Oliver, additional

Published
2014
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46. Attention-deficit hyperactivity disorder

Author

Elia, Josephine, primary, Lantieri, Francesca, additional, Takeda, Toshinobu, additional, Gai, Xiaowu, additional, White, Peter S., additional, Devoto, Marcella, additional, and Hakonarson, Hakon, additional

Published
2012
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47. A double-blind, placebo-controlled trial of dexmethylphenidate hydrochloride and d,l-threo-methylphenidate hydrochloride in children with attention-deficit/hyperactivity disorder

Author

Wigal, Sharon, Swanson, James M., Feifel, David, Sangal, R. Bart, Elia, Josephine, Casat, Charles D., Zeldis, Jerome B., and Conners, C. Keith

Subjects
Attention-deficit hyperactivity disorder -- Research, Attention-deficit hyperactivity disorder -- Care and treatment, Family and marriage, Psychology and mental health
Published
2004

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