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1. Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Author: Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., and Sønderby, Ida E.
Published: 2024
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2. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Author: Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, and Van Broeckhoven, Christine
Subjects: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Rare Diseases, Acquired Cognitive Impairment, Alzheimer's Disease Related Dementias (ADRD), Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Frontotemporal Dementia (FTD), Genetics, Clinical Research, Dementia, Neurological, Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive, C9orf72 Protein, Cohort Studies, DNA Repeat Expansion, Europe, Female, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, Geography, Humans, Male, Mediterranean Region, Middle Aged, Principal Component Analysis, Scandinavian and Nordic Countries, Syndrome, International FTD-Genetics Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract: ObjectiveWe sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.MethodsWe evaluated expansions frequency in the entire cohort (n = 1,396; behavioral variant frontotemporal dementia [bvFTD] [n = 800], primary progressive aphasia [PPA] [n = 495], and FTLD-motor neuron disease [MND] [n = 101]). We then focused on the bvFTD and PPA cases and tested for association between expansion status, syndromes, genetic ancestry, and AAO applying statistical tests comprising Fisher exact tests, analysis of variance with Tukey post hoc tests, and logistic and nonlinear mixed-effects model regressions.ResultsWe found C9orf72 pathogenic expansions in 4% of all cases (56/1,396). Expansion carriers differently distributed across syndromes: 12/101 FTLD-MND (11.9%), 40/800 bvFTD (5%), and 4/495 PPA (0.8%). While addressing population substructure through principal components analysis (PCA), we defined 2 patients groups with Central/Northern (n = 873) and Southern European (n = 523) ancestry. The proportion of expansion carriers was significantly higher in bvFTD compared to PPA (5% vs 0.8% [p = 2.17 × 10-5; odds ratio (OR) 6.4; confidence interval (CI) 2.31-24.99]), as well as in individuals with Central/Northern European compared to Southern European ancestry (4.4% vs 1.8% [p = 1.1 × 10-2; OR 2.5; CI 1.17-5.99]). Pathogenic expansions and Central/Northern European ancestry independently and inversely correlated with AAO. Our prediction model (based on expansions status, genetic ancestry, and AAO) predicted a diagnosis of bvFTD with 64% accuracy.ConclusionsOur results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral and language variant syndromes.
Published: 2020

3. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author: Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E., Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C., Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A., Boland, Anne, Damotte, Vincent, van der Lee, Sven J., Costa, Marcos R., Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C., Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J., Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E., Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J., Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S., Calero, Miguel, Cantwell, Laura B., Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L., Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen A. H. R., Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D., Debette, Stéphanie, Deckert, Jürgen, del Ser, Teodoro, Denning, Nicola, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Diez-Fairen, Mónica, Rossi, Paolo Dionigi, Djurovic, Srdjan, Duron, Emmanuelle, Düzel, Emrah, Dufouil, Carole, Eiriksdottir, Gudny, Engelborghs, Sebastiaan, Escott-Price, Valentina, Espinosa, Ana, Ewers, Michael, Faber, Kelley M., Fabrizio, Tagliavini, Nielsen, Sune Fallgaard, Fardo, David W., Farotti, Lucia, Fenoglio, Chiara, Fernández-Fuertes, Marta, Ferrari, Raffaele, Ferreira, Catarina B., Ferri, Evelyn, Fin, Bertrand, Fischer, Peter, Fladby, Tormod, Fließbach, Klaus, Fongang, Bernard, Fornage, Myriam, Fortea, Juan, Foroud, Tatiana M., Fostinelli, Silvia, Fox, Nick C., Franco-Macías, Emlio, Bullido, María J., Frank-García, Ana, Froelich, Lutz, Fulton-Howard, Brian, Galimberti, Daniela, García-Alberca, Jose Maria, García-González, Pablo, Garcia-Madrona, Sebastian, Garcia-Ribas, Guillermo, Ghidoni, Roberta, Giegling, Ina, Giorgio, Giaccone, Goate, Alison M., Goldhardt, Oliver, Gomez-Fonseca, Duber, González-Pérez, Antonio, Graff, Caroline, Grande, Giulia, Green, Emma, Grimmer, Timo, Grünblatt, Edna, Grunin, Michelle, Gudnason, Vilmundur, Guetta-Baranes, Tamar, Haapasalo, Annakaisa, Hadjigeorgiou, Georgios, Haines, Jonathan L., Hamilton-Nelson, Kara L., Hampel, Harald, Hanon, Olivier, Hardy, John, Hartmann, Annette M., Hausner, Lucrezia, Harwood, Janet, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herrmann, Martin J., Hoffmann, Per, Holmes, Clive, Holstege, Henne, Vilas, Raquel Huerto, Hulsman, Marc, Humphrey, Jack, Biessels, Geert Jan, Jian, Xueqiu, Johansson, Charlotte, Jun, Gyungah R., Kastumata, Yuriko, Kauwe, John, Kehoe, Patrick G., Kilander, Lena, Ståhlbom, Anne Kinhult, Kivipelto, Miia, Koivisto, Anne, Kornhuber, Johannes, Kosmidis, Mary H., Kukull, Walter A., Kuksa, Pavel P., Kunkle, Brian W., Kuzma, Amanda B., Lage, Carmen, Laukka, Erika J., Launer, Lenore, Lauria, Alessandra, Lee, Chien-Yueh, Lehtisalo, Jenni, Lerch, Ondrej, Lleó, Alberto, Longstreth, Jr, William, Lopez, Oscar, de Munain, Adolfo Lopez, Love, Seth, Löwemark, Malin, Luckcuck, Lauren, Lunetta, Kathryn L., Ma, Yiyi, Macías, Juan, MacLeod, Catherine A., Maier, Wolfgang, Mangialasche, Francesca, Spallazzi, Marco, Marquié, Marta, Marshall, Rachel, Martin, Eden R., Montes, Angel Martín, Rodríguez, Carmen Martínez, Masullo, Carlo, Mayeux, Richard, Mead, Simon, Mecocci, Patrizia, Medina, Miguel, Meggy, Alun, Mehrabian, Shima, Mendoza, Silvia, Menéndez-González, Manuel, Mir, Pablo, Moebus, Susanne, Mol, Merel, Molina-Porcel, Laura, Montrreal, Laura, Morelli, Laura, Moreno, Fermin, Morgan, Kevin, Mosley, Thomas, Nöthen, Markus M., Muchnik, Carolina, Mukherjee, Shubhabrata, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Olaso, Robert, Orellana, Adelina, Orsini, Michela, Ortega, Gemma, Padovani, Alessandro, Paolo, Caffarra, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Peloso, Gina, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pericard, Pierre, Peters, Oliver, Pijnenburg, Yolande A. L., Pineda, Juan A., Piñol-Ripoll, Gerard, Pisanu, Claudia, Polak, Thomas, Popp, Julius, Posthuma, Danielle, Priller, Josef, Puerta, Raquel, Quenez, Olivier, Quintela, Inés, Thomassen, Jesper Qvist, Rábano, Alberto, Rainero, Innocenzo, Rajabli, Farid, Ramakers, Inez, Real, Luis M., Reinders, Marcel J. T., Reitz, Christiane, Reyes-Dumeyer, Dolly, Ridge, Perry, Riedel-Heller, Steffi, Riederer, Peter, Roberto, Natalia, Rodriguez-Rodriguez, Eloy, Rongve, Arvid, Allende, Irene Rosas, Rosende-Roca, Maitée, Royo, Jose Luis, Rubino, Elisa, Rujescu, Dan, Sáez, María Eugenia, Sakka, Paraskevi, Saltvedt, Ingvild, Sanabria, Ángela, Sánchez-Arjona, María Bernal, Sanchez-Garcia, Florentino, Juan, Pascual Sánchez, Sánchez-Valle, Raquel, Sando, Sigrid B., Sarnowski, Chloé, Satizabal, Claudia L., Scamosci, Michela, Scarmeas, Nikolaos, Scarpini, Elio, Scheltens, Philip, Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias, Schneider, Anja, Schott, Jonathan M., Selbæk, Geir, Seripa, Davide, Serrano, Manuel, Sha, Jin, Shadrin, Alexey A., Skrobot, Olivia, Slifer, Susan, Snijders, Gijsje J. L., Soininen, Hilkka, Solfrizzi, Vincenzo, Solomon, Alina, Song, Yeunjoo, Sorbi, Sandro, Sotolongo-Grau, Oscar, Spalletta, Gianfranco, Spottke, Annika, Squassina, Alessio, Stordal, Eystein, Tartan, Juan Pablo, Tárraga, Lluís, Tesí, Niccolo, Thalamuthu, Anbupalam, Thomas, Tegos, Tosto, Giuseppe, Traykov, Latchezar, Tremolizzo, Lucio, Tybjærg-Hansen, Anne, Uitterlinden, Andre, Ullgren, Abbe, Ulstein, Ingun, Valero, Sergi, Valladares, Otto, Broeckhoven, Christine Van, Vance, Jeffery, Vardarajan, Badri N., van der Lugt, Aad, Dongen, Jasper Van, van Rooij, Jeroen, van Swieten, John, Vandenberghe, Rik, Verhey, Frans, Vidal, Jean-Sébastien, Vogelgsang, Jonathan, Vyhnalek, Martin, Wagner, Michael, Wallon, David, Wang, Li-San, Wang, Ruiqi, Weinhold, Leonie, Wiltfang, Jens, Windle, Gill, Woods, Bob, Yannakoulia, Mary, Zare, Habil, Zhao, Yi, Zhang, Xiaoling, Zhu, Congcong, Zulaica, Miren, Farrer, Lindsay A., Psaty, Bruce M., Ghanbari, Mohsen, Raj, Towfique, Sachdev, Perminder, Mather, Karen, Jessen, Frank, Ikram, M. Arfan, de Mendonça, Alexandre, Hort, Jakub, Tsolaki, Magda, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, Frikke-Schmidt, Ruth, Clarimon, Jordi, Deleuze, Jean-François, Rossi, Giacomina, Seshadri, Sudha, Andreassen, Ole A., Ingelsson, Martin, Hiltunen, Mikko, Sleegers, Kristel, Schellenberg, Gerard D., van Duijn, Cornelia M., Sims, Rebecca, van der Flier, Wiesje M., Ruiz, Agustín, Ramirez, Alfredo, and Lambert, Jean-Charles
Published: 2022
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4. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2021
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5. Beyond the Global Brain Differences:Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Author: Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., Sønderby, Ida E., Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Ophoff, Roel A., Owen, Michael J., Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., van ’t Ent, Dennis, van den Bree, Marianne B.M., van Haren, Neeltje E.M., Vázquez-Bourgon, Javier, Völzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A., and Sønderby, Ida E.
Abstract: BACKGROUND: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure. METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual’s regional difference and global difference, were used to test for regional differences that diverge from the global difference. RESULTS: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness. CONCLUSIONS: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.
Published: 2024

6. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author: Sønderby, Ida E, Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I., de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E M, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S, Reinbold, Céline S, Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B, Schmaal, Lianne, Schofield, Peter R, Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M, Stein, Dan J, Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D, Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T, Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, and Andreassen, Ole A.
Published: 2020
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7. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author: Sønderby, Ida E., Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I., Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J. C., de Zubicaray, Greig I., de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Jönsson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E. M., Kolskår, Knut K., Kwok, John B., Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Céline S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, and Andreassen, Ole A.
Published: 2020
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8. Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

Author: Desikan, Rahul S, Schork, Andrew J, Wang, Yunpeng, Thompson, Wesley K, Dehghan, Abbas, Ridker, Paul M, Chasman, Daniel I, McEvoy, Linda K, Holland, Dominic, Chen, Chi-Hua, Karow, David S, Brewer, James B, Hess, Christopher P, Williams, Julie, Sims, Rebecca, O'Donovan, Michael C, Choi, Seung Hoan, Bis, Joshua C, Ikram, M Arfan, Gudnason, Vilmundur, DeStefano, Anita L, van der Lee, Sven J, Psaty, Bruce M, van Duijn, Cornelia M, Launer, Lenore, Seshadri, Sudha, Pericak-Vance, Margaret A, Mayeux, Richard, Haines, Jonathan L, Farrer, Lindsay A, Hardy, John, Ulstein, Ingun Dina, Aarsland, Dag, Fladby, Tormod, White, Linda R, Sando, Sigrid B, Rongve, Arvid, Witoelar, Aree, Djurovic, Srdjan, Hyman, Bradley T, Snaedal, Jon, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, Schellenberg, Gerard D, Andreassen, Ole A, and Dale, Anders M
Subjects: Epidemiology, Health Sciences, Genetics, Prevention, Brain Disorders, Alzheimer's Disease, Neurodegenerative, Acquired Cognitive Impairment, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Cardiovascular, Neurosciences, Dementia, 2.1 Biological and endogenous factors, Aetiology, Aged, Aged, 80 and over, Alzheimer Disease, Biomarkers, Brain, C-Reactive Protein, Dyslipidemias, Female, Genome-Wide Association Study, Humans, Inflammation, Lipids, Male, Multifactorial Inheritance, Peroxisomal Bifunctional Enzyme, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sulfotransferases, inflammation, lipids, Inflammation working group, IGAP and DemGene Investigators, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Sports science and exercise
Abstract: BackgroundEpidemiological findings suggest a relationship between Alzheimer disease (AD), inflammation, and dyslipidemia, although the nature of this relationship is not well understood. We investigated whether this phenotypic association arises from a shared genetic basis.Methods and resultsUsing summary statistics (P values and odds ratios) from genome-wide association studies of >200 000 individuals, we investigated overlap in single-nucleotide polymorphisms associated with clinically diagnosed AD and C-reactive protein (CRP), triglycerides, and high- and low-density lipoprotein levels. We found up to 50-fold enrichment of AD single-nucleotide polymorphisms for different levels of association with C-reactive protein, low-density lipoprotein, high-density lipoprotein, and triglyceride single-nucleotide polymorphisms using a false discovery rate threshold
Published: 2015

9. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2022
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10. C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Author: Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, Van Broeckhoven, Christine, van Rooij, Jeroen, Van Swieten, John C, Veronesi, Arianna, Vitale, Emilia, Waldö, Maria L, Woodward, Cathy, Yokoyama, Jennifer, Escott-Price, Valentina, Polke, James M, and Ferrari, Raffaele
Published: 2020
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11. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

Author: Jansen, Iris E., Savage, Jeanne E., Watanabe, Kyoko, Bryois, Julien, Williams, Dylan M., Steinberg, Stacy, Sealock, Julia, Karlsson, Ida K., Hägg, Sara, Athanasiu, Lavinia, Voyle, Nicola, Proitsi, Petroula, Witoelar, Aree, Stringer, Sven, Aarsland, Dag, Almdahl, Ina S., Andersen, Fred, Bergh, Sverre, Bettella, Francesco, Bjornsson, Sigurbjorn, Brækhus, Anne, Bråthen, Geir, de Leeuw, Christiaan, Desikan, Rahul S., Djurovic, Srdjan, Dumitrescu, Logan, Fladby, Tormod, Hohman, Timothy J., Jonsson, Palmi V., Kiddle, Steven J., Rongve, Arvid, Saltvedt, Ingvild, Sando, Sigrid B., Selbæk, Geir, Shoai, Maryam, Skene, Nathan G., Snaedal, Jon, Stordal, Eystein, Ulstein, Ingun D., Wang, Yunpeng, White, Linda R., Hardy, John, Hjerling-Leffler, Jens, Sullivan, Patrick F., van der Flier, Wiesje M., Dobson, Richard, Davis, Lea K., Stefansson, Hreinn, Stefansson, Kari, Pedersen, Nancy L., Ripke, Stephan, Andreassen, Ole A., and Posthuma, Danielle
Published: 2019
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12. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author: Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle
Published: 2021
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13. GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

Author: Rongve, Arvid, Witoelar, Aree, Ruiz, Agustín, Athanasiu, Lavinia, Abdelnour, Carla, Clarimon, Jordi, Heilmann-Heimbach, Stefanie, Hernández, Isabel, Moreno-Grau, Sonia, de Rojas, Itziar, Morenas-Rodríguez, Estrella, Fladby, Tormod, Sando, Sigrid B., Bråthen, Geir, Blanc, Frédéric, Bousiges, Olivier, Lemstra, Afina W., van Steenoven, Inger, Londos, Elisabet, Almdahl, Ina S., Pålhaugen, Lene, Eriksen, Jon A., Djurovic, Srdjan, Stordal, Eystein, Saltvedt, Ingvild, Ulstein, Ingun D., Bettella, Francesco, Desikan, Rahul S., Idland, Ane-Victoria, Toft, Mathias, Pihlstrøm, Lasse, Snaedal, Jon, Tárraga, Lluís, Boada, Mercè, Lleó, Alberto, Stefánsson, Hreinn, Stefánsson, Kári, Ramírez, Alfredo, Aarsland, Dag, and Andreassen, Ole A.
Published: 2019
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14. Meta-analysis of Alzheimer’s disease on 9,751 samples from Norway and IGAP study identifies four risk loci

Author: Witoelar, Aree, Rongve, Arvid, Almdahl, Ina S., Ulstein, Ingun D., Engvig, Andreas, White, Linda R., Selbæk, Geir, Stordal, Eystein, Andersen, Fred, Brækhus, Anne, Saltvedt, Ingvild, Engedal, Knut, Hughes, Timothy, Bergh, Sverre, Bråthen, Geir, Bogdanovic, Nenad, Bettella, Francesco, Wang, Yunpeng, Athanasiu, Lavinia, Bahrami, Shahram, Le Hellard, Stephanie, Giddaluru, Sudheer, Dale, Anders M., Sando, Sigrid B., Steinberg, Stacy, Stefansson, Hreinn, Snaedal, Jon, Desikan, Rahul S., Stefansson, Kari, Aarsland, Dag, Djurovic, Srdjan, Fladby, Tormod, and Andreassen, Ole A.
Published: 2018
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15. The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer’s disease

Author: Twohig, Daniel, Rodriguez-Vieitez, Elena, Sando, Sigrid B., Berge, Guro, Lauridsen, Camilla, Møller, Ina, Grøntvedt, Gøril R., Bråthen, Geir, Patra, Kalicharan, Bu, Guojun, Benzinger, Tammie L. S., Karch, Celeste M., Fagan, Anne, Morris, John C., Bateman, Randall J., Nordberg, Agneta, White, Linda R., Nielsen, Henrietta M., and for the Dominantly Inherited Alzheimer Network (DIAN)
Published: 2018
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16. Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

Author: Jansen, Iris E., Savage, Jeanne E., Watanabe, Kyoko, Bryois, Julien, Williams, Dylan M., Steinberg, Stacy, Sealock, Julia, Karlsson, Ida K., Hägg, Sara, Athanasiu, Lavinia, Voyle, Nicola, Proitsi, Petroula, Witoelar, Aree, Stringer, Sven, Aarsland, Dag, Almdahl, Ina S., Andersen, Fred, Bergh, Sverre, Bettella, Francesco, Bjornsson, Sigurbjorn, Brækhus, Anne, Bråthen, Geir, de Leeuw, Christiaan, Desikan, Rahul S., Djurovic, Srdjan, Dumitrescu, Logan, Fladby, Tormod, Hohman, Timothy J., Jonsson, Palmi V., Kiddle, Steven J., Rongve, Arvid, Saltvedt, Ingvild, Sando, Sigrid B., Selbæk, Geir, Shoai, Maryam, Skene, Nathan G., Snaedal, Jon, Stordal, Eystein, Ulstein, Ingun D., Wang, Yunpeng, White, Linda R., Hardy, John, Hjerling-Leffler, Jens, Sullivan, Patrick F., van der Flier, Wiesje M., Dobson, Richard, Davis, Lea K., Stefansson, Hreinn, Stefansson, Kari, Pedersen, Nancy L., Ripke, Stephan, Andreassen, Ole A., and Posthuma, Danielle
Published: 2020
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17. Using Polygenic Hazard Scores to Predict Age at Onset of Alzheimer’s Disease in Nordic Populations

Author: Motazedi, Ehsan, primary, Cheng, Weiqiu, additional, Thomassen, Jesper Q., additional, Frei, Oleksandr, additional, Rongve, Arvid, additional, Athanasiu, Lavinia, additional, Bahrami, Shahram, additional, Shadrin, Alexey, additional, Ulstein, Ingun, additional, Stordal, Eystein, additional, Brækhus, Anne, additional, Saltvedt, Ingvild, additional, Sando, Sigrid B., additional, O’Connell, Kevin S., additional, Hindley, Guy, additional, van der Meer, Dennis, additional, Bergh, Sverre, additional, Nordestgaard, Børge G., additional, Tybjærg-Hansen, Anne, additional, Bråthen, Geir, additional, Pihlstrøm, Lasse, additional, Djurovic, Srdjan, additional, Frikke-Schmidt, Ruth, additional, Fladby, Tormod, additional, Aarsland, Dag, additional, Selbæk, Geir, additional, Seibert, Tyler M., additional, Dale, Anders M., additional, Fan, Chun C., additional, and Andreassen, Ole A., additional
Published: 2022
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18. Using Polygenic Hazard Scores to Predict Age at Onset of Alzheimer's Disease in Nordic Populations

Author: Motazedi, Ehsan, Cheng, Weiqiu, Thomassen, Jesper Q., Frei, Oleksandr, Rongve, Arvid, Athanasiu, Lavinia, Bahrami, Shahram, Shadrin, Alexey, Ulstein, Ingun, Stordal, Eystein, Brækhus, Anne, Saltvedt, Ingvild, Sando, Sigrid B., O'Connell, Kevin S., Hindley, Guy, Van Der Meer, Dennis, Bergh, Sverre, Nordestgaard, Brge G., Tybjærg-Hansen, Anne, Brthen, Geir, Pihlstrm, Lasse, Djurovic, Srdjan, Frikke-Schmidt, Ruth, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Seibert, Tyler M., Dale, Anders M., Fan, Chun C., Andreassen, Ole A., Motazedi, Ehsan, Cheng, Weiqiu, Thomassen, Jesper Q., Frei, Oleksandr, Rongve, Arvid, Athanasiu, Lavinia, Bahrami, Shahram, Shadrin, Alexey, Ulstein, Ingun, Stordal, Eystein, Brækhus, Anne, Saltvedt, Ingvild, Sando, Sigrid B., O'Connell, Kevin S., Hindley, Guy, Van Der Meer, Dennis, Bergh, Sverre, Nordestgaard, Brge G., Tybjærg-Hansen, Anne, Brthen, Geir, Pihlstrm, Lasse, Djurovic, Srdjan, Frikke-Schmidt, Ruth, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Seibert, Tyler M., Dale, Anders M., Fan, Chun C., and Andreassen, Ole A.
Abstract: Background: Polygenic hazard scores (PHS) estimate age-dependent genetic risk of late-onset Alzheimer's disease (AD), but there is limited information about the performance of PHS on real-world data where the population of interest differs from the model development population and part of the model genotypes are missing or need to be imputed. Objective: The aim of this study was to estimate age-dependent risk of late-onset AD using polygenic predictors in Nordic populations. Methods: We used Desikan PHS model, based on Cox proportional hazards assumption, to obtain age-dependent hazard scores for AD from individual genotypes in the Norwegian DemGene cohort (n = 2,772). We assessed the risk discrimination and calibration of Desikan model and extended it by adding new genotype markers (the Desikan Nordic model). Finally, we evaluated both Desikan and Desikan Nordic models in two independent Danish cohorts: The Copenhagen City Heart Study (CCHS) cohort (n = 7,643) and The Copenhagen General Population Study (CGPS) cohort (n = 10,886). Results: We showed a robust prediction efficiency of Desikan model in stratifying AD risk groups in Nordic populations, even when some of the model SNPs were missing or imputed. We attempted to improve Desikan PHS model by adding new SNPs to it, but we still achieved similar risk discrimination and calibration with the extended model. Conclusion: PHS modeling has the potential to guide the timing of treatment initiation based on individual risk profiles and can help enrich clinical trials with people at high risk to AD in Nordic populations.
Published: 2022

19. Evidence for an association between KIBRA and late-onset Alzheimer's disease

Author: Corneveaux, Jason J., Liang, Winnie S., Reiman, Eric M., Webster, Jennifer A., Myers, Amanda J., Zismann, Victoria L., Joshipura, Keta D., Pearson, John V., Hu-Lince, Diane, Craig, David W., Coon, Keith D., Dunckley, Travis, Bandy, Daniel, Lee, Wendy, Chen, Kewei, Beach, Thomas G., Mastroeni, Diego, Grover, Andrew, Ravid, Rivka, Sando, Sigrid B., Aasly, Jan O., Heun, Reinhard, Jessen, Frank, Kölsch, Heike, Rogers, Joseph, Hutton, Michael L., Melquist, Stacey, Petersen, Ron C., Alexander, Gene E., Caselli, Richard J., Papassotiropoulos, Andreas, Stephan, Dietrich A., and Huentelman, Matthew J.
Published: 2010
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20. Biomarkers: Parkinson disease with dementia and dementia with Lewy bodies

Author: Johansen, Krisztina K., White, Linda R., Sando, Sigrid B., and Aasly, Jan O.
Published: 2010
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21. Apolipoprotein E ε2 genotype delays onset of dementia with Lewy bodies in a Norwegian cohort

Author: Berge, Guro, Sando, Sigrid B, Rongve, Arvid, Aarsland, Dag, and White, Linda R
Published: 2014
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22. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

Author: Sønderby, Ida E, Ching, Christopher R K, Ayesa-Arriola, Rosa, Thompson, Paul M, Bearden, Carrie E, Andreassen, Ole A, Group, ENIGMA-CNV Working, 2 Deletion Syndrome Working Group, ENIGMA 22q11., Bernard, Manon, Blackburn, Nicholas B, Bøen, Rune, de Geus, Eco, de Zwarte, Sonja M C, Bakker, Geor, Forti, Marta Di, Frei, Oleksandr, Fukunaga, Masaki, Hehir-Kwa, Jayne Y, Hillegers, Manon H J, Hoffmann, Per, Homuth, Georg, Jahanshad, Neda, Koops, Sanne, Kumar, Kuldeep, Bassett, Anne S, Kikuchi, Masataka, Le Hellard, Stephanie, Leu, Costin, Murray, Robin M, Naerland, Terje, Nyberg, Lars, Ophoff, Roel A, Pike, G Bruce, Sando, Sigrid B, Shin, Jean, Boomsma, Dorret I, Shumskaya, Elena, Sisodiya, Sanjay M, Steen, Vidar M, Teumer, Alexander, Uhlmann, Anne, Wright, Margaret J, Antshel, Kevin M, Campbell, Linda E, Crossley, Nicolas A, Crowley, T Blaine, Bülow, Robin, Daly, Eileen, Fiksinski, Ania M, Forsyth, Jennifer K, Fremont, Wanda, Goodrich-Hunsaker, Naomi J, Gudbrandsen, Maria, Jonas, Rachel K, Kates, Wendy R, Lin, Amy, McCabe, Kathryn L, Butcher, Nancy J, Moss, Hayley, Murphy, Declan G, Murphy, Kieran C, Owen, Michael J, Ruparel, Kosha, Simon, Tony J, van Amelsvoort, Therese, Vorstman, Jacob A S, Calhoun, Vince D, Caspers, Svenja, Chow, Eva W C, Cichon, Sven, Thomopoulos, Sophia I, Ciufolini, Simone, Craig, Michael C, Crespo-Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, van der Meer, Dennis, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Sun, Daqiang, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Jalbrzikowski, Maria, Villalon-Reina, Julio E, Knowles, Emma E M, Kushan, Leila, Linden, David E J, Liu, Jingyu, Lundervold, Astri J, Martin-Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald-McGinn, Donna M, Agartz, Ingrid, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Monereo Sánchez, Jennifer, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Amunts, Katrin, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Reis Marques, Tiago, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez-Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Arango, Celso, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas-Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne B M, Armstrong, Nicola J, Vassos, Evangelos, Vázquez-Bourgon, Javier, Vila-Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, Jacquemont, Sebastien, the ENIGMA-CNV Working Group, the ENIGMA 22q11.2 Deletion Syndrome Working Group, Stochastics, Biological Psychology, APH - Mental Health, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, and Universidad de Cantabria
Subjects: Review Article, genetics [Mental Disorders], 0302 clinical medicine, genetics-first approach, pathology [Brain], Multicenter Studies as Topic, Copy-number variation, Review Articles, education.field_of_study, brain structural imaging, Radiological and Ultrasound Technology, genetics [Neurodevelopmental Disorders], Mental Disorders, neurodevelopmental disorders, 05 social sciences, growth & development [Brain], Brain, pathology [Mental Disorders], Cognition, Human brain, diffusion tensor imaging, Magnetic Resonance Imaging, diagnostic imaging [Neurodevelopmental Disorders], medicine.anatomical_structure, psychiatric disorders, Neurology, Anatomy, medicine.medical_specialty, Brain development, DNA Copy Number Variations, Population, Neuroimaging, Biology, 050105 experimental psychology, 03 medical and health sciences, evolution, medicine, pathology [Neurodevelopmental Disorders], Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Deletion syndrome, copy number variant, ddc:610, genetics‐first approach, education, Psychiatry, diagnostic imaging [Brain], Neurology (clinical), Working group, 030217 neurology & neurosurgery, diagnostic imaging [Mental Disorders]
Abstract: The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA‐CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q‐ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest‐ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi‐site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene‐dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype‐first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior., The enhancing neuroimaging genetics through meta‐analysis (ENIGMA) copy number variant (CNV) and 22q11.2 Working Groups focus on gaining insight into how rare genetic variants affect human brain development, cognition, and behavior. The two ENIGMA working groups have collated CNV and brain‐imaging data from numerous individuals, gathered by numerous international research centers, and analyzed this data with standardized processing and analysis pipelines. Future directions for the ENIGMA CNV and 22q11.2 working groups are to analyze CNVs with larger sample sizes and more imaging modalities to better understand how rare genetic variants affect the brain, and their clinical and behavioral consequences.
Published: 2021

23. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Author: Sønderby, Ida E., van der Meer, Dennis, Moreau, Clara, Kaufmann, Tobias, Walters, G Bragi, Ellegaard, Maria, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas B., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Bøen, Rune, Cahn, Wiepke, Calhoun, Vince D., Caspers, Svenja, Ching, Christopher R K, Cichon, Sven, Ciufolini, Simone, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I., de Zwarte, Sonja M C, Desrivieres, Sylvane, Doherty, Joanne L., Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fejgin, Kim, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Ge, Tian, Glahn, David C., Grabe, Hans J., Groenewold, Nynke A., Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K., Hall, Jeremy, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Hibar, Derrek P., Hillegers, Manon H J, Hoffmann, Per, Holleran, Laurena, Holmes, Avram J., Homuth, Georg, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Jørgensen, Niklas R., Kikuchi, Masataka, Knowles, Emma E M, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E J, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri Johansen, Maillard, Anne M., Martin, Nicholas G., Martin-Brevet, Sandra, Mather, Karen A., Mathias, Samuel R., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meyer-Lindenberg, Andreas, Moberget, Torgeir, Modenato, Claudia, Sánchez, Jennifer Monereo, Morris, Derek W., Mühleisen, Thomas W., Murray, Robin M., Nielsen, Jacob, Nordvik, Jan E., Nyberg, Lars, Loohuis, Loes M Olde, Ophoff, Roel A., Owen, Michael J., Paus, Tomas, Pausova, Zdenka, Peralta, Juan M., Pike, G Bruce, Prieto, Carlos, Quinlan, Erin B., Reinbold, Céline S, Marques, Tiago Reis, Rucker, James J H, Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Suzuki, Ikuo K., Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Ulfarsson, Magnus O., van 't Ent, Dennis, van den Bree, Marianne B M, Vanderhaeghen, Pierre, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J., Agartz, Ingrid, Djurovic, Srdjan, Westlye, Lars T., Stefansson, Hreinn, Stefansson, Kari, Jacquemont, Sébastien, Thompson, Paul M., Andreassen, Ole A., Sønderby, Ida E., van der Meer, Dennis, Moreau, Clara, Kaufmann, Tobias, Walters, G Bragi, Ellegaard, Maria, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas B., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Bøen, Rune, Cahn, Wiepke, Calhoun, Vince D., Caspers, Svenja, Ching, Christopher R K, Cichon, Sven, Ciufolini, Simone, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I., de Zwarte, Sonja M C, Desrivieres, Sylvane, Doherty, Joanne L., Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fejgin, Kim, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Ge, Tian, Glahn, David C., Grabe, Hans J., Groenewold, Nynke A., Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K., Hall, Jeremy, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Hibar, Derrek P., Hillegers, Manon H J, Hoffmann, Per, Holleran, Laurena, Holmes, Avram J., Homuth, Georg, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Jørgensen, Niklas R., Kikuchi, Masataka, Knowles, Emma E M, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E J, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri Johansen, Maillard, Anne M., Martin, Nicholas G., Martin-Brevet, Sandra, Mather, Karen A., Mathias, Samuel R., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meyer-Lindenberg, Andreas, Moberget, Torgeir, Modenato, Claudia, Sánchez, Jennifer Monereo, Morris, Derek W., Mühleisen, Thomas W., Murray, Robin M., Nielsen, Jacob, Nordvik, Jan E., Nyberg, Lars, Loohuis, Loes M Olde, Ophoff, Roel A., Owen, Michael J., Paus, Tomas, Pausova, Zdenka, Peralta, Juan M., Pike, G Bruce, Prieto, Carlos, Quinlan, Erin B., Reinbold, Céline S, Marques, Tiago Reis, Rucker, James J H, Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Suzuki, Ikuo K., Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Ulfarsson, Magnus O., van 't Ent, Dennis, van den Bree, Marianne B M, Vanderhaeghen, Pierre, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J., Agartz, Ingrid, Djurovic, Srdjan, Westlye, Lars T., Stefansson, Hreinn, Stefansson, Kari, Jacquemont, Sébastien, Thompson, Paul M., and Andreassen, Ole A.
Abstract: Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
Published: 2021
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24. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Author: Helmholtz Association, European Commission, Netherlands Organization for Scientific Research, European Research Council, Knut and Alice Wallenberg Foundation, Innovative Medicines Initiative, European Federation of Pharmaceutical Industries and Associations, Science Foundation Ireland, Medical Research Council (UK), Wellcome Trust, Waterloo Foundation, National Institute of Mental Health (US), National Institutes of Health (US), Department of Health & Social Care (UK), NIHR Biomedical Research Centre (UK), NHS Foundation Trust, Harvard University, Massachusetts General Hospital, Swedish Research Council, Norwegian University of Science and Technology, Swedish Research Council for Sustainable Development, Kings College London, Federal Ministry of Education and Research (Germany), German Research Foundation, Agence Nationale de la Recherche (France), Fondation de France, Fondation pour la Recherche Médicale, Research Council of Norway, University of Bergen, European Science Foundation, National Health and Medical Research Council (Australia), Australian Research Council, Japan Agency for Medical Research and Development, Instituto de Salud Carlos III, Fundación Marques de Valdecilla, National Institute on Drug Abuse (US), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), University of Greifswald, Mecklenburg-Western Pomerania, University of Oslo, Sønderby, Ida E., van der Meer, Dennis, Moreau, Clara, Kaufmann, Tobias, Bragi Walters, G., Ellegaard, Maria, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Modenato, Claudia, Monereo Sánchez, Jennifer, Morris, Derek W., Mühleisen, Thomas W., Pausova, Zdenka, Olde Loohuis, Loes M., Peralta, Juan M., Pike, G. Bruce, Prieto, Carlos, Quinlan, Erin B., Wright, Margaret J., Reinbold, Céline S., Stefansson, Hreinn, Reis Marques, Tiago, Bernard, Manon, Rucker, James J. H., Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Agartz, Ingrid, Shin, Jean, Shumskaya, Elena, Stefansson, Kari, Silva, Ana I., Sisodiya, Sanjay M., Blackburn, Nicholas B., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Suzuki, Ikuo K., Djurovic, Srdjan, Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Jacquemont, Sébastien, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Ulfarsson, Magnus O., Blangero, John, van't Ent, Dennis, van den Bree, Marianne B. M., Westlye, Lars T., Vanderhaeghen, Pierre, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Thompson, Paul M., Boomsma, Dorret I., Andreassen, Ole A., Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Bøen, Rune, Groenewold, Nynke A., Cahn, Wiepke, Hashimoto, Ryota, Calhoun, Vincent, Caspers, Svenja, Ching, Christopher R. K., Cichon, Sven, Ciufolini, Simone, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Gústafsson, Ómar, Dalvie, Shareefa, Dazzan, Paola, Hehir-Kwa, Jayne Y., de Geus, de Geus, Zubicaray, Greig I. de, de Zwarte, Sonja M. C., Desrivieres, Sylvane, Doherty, Joanne L., Donohoe, Gary, Draganski, Bogdan, Haavik, Jan, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Hibar, Derrek P., Fejgin, Kim, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Haberg, Asta K., Gareau, Thomas, Ge,Tian, Glahn, David C., Grabe, Hans-Jörgen, Hillegers, Manon H. J., Hall, Jeremy, Hoffmann, Per, Holleran, Laurena, Holmes, Avram J., Homuth, Georg, Hottenga, Jouke-Jan, Murray, Robin M., Hulshoff Pol, Hilleke E., Ophoff, Roel A., Ikeda, Masashi, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Jørgensen, Niklas R., Kikuchi, Masataka, Knowles, Emma E. M., Nielsen, Jacob, Kumar, Kuldeep, Le Hellard, Stephanie, Owen, Michael J., Leu, Costin, Linden, David E. J., Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri Johansen, Maillard, Anne M., Martin, Nicholas G., Nordvik, Jan E., Martin-Brevet, Sandra, Mather, Karen A., Mathias, Samuel R., Paus, Tomas, McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meyer-Lindenberg, Andreas, Moberget, Torgeir, Nyberg, Lars, Helmholtz Association, European Commission, Netherlands Organization for Scientific Research, European Research Council, Knut and Alice Wallenberg Foundation, Innovative Medicines Initiative, European Federation of Pharmaceutical Industries and Associations, Science Foundation Ireland, Medical Research Council (UK), Wellcome Trust, Waterloo Foundation, National Institute of Mental Health (US), National Institutes of Health (US), Department of Health & Social Care (UK), NIHR Biomedical Research Centre (UK), NHS Foundation Trust, Harvard University, Massachusetts General Hospital, Swedish Research Council, Norwegian University of Science and Technology, Swedish Research Council for Sustainable Development, Kings College London, Federal Ministry of Education and Research (Germany), German Research Foundation, Agence Nationale de la Recherche (France), Fondation de France, Fondation pour la Recherche Médicale, Research Council of Norway, University of Bergen, European Science Foundation, National Health and Medical Research Council (Australia), Australian Research Council, Japan Agency for Medical Research and Development, Instituto de Salud Carlos III, Fundación Marques de Valdecilla, National Institute on Drug Abuse (US), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), University of Greifswald, Mecklenburg-Western Pomerania, University of Oslo, Sønderby, Ida E., van der Meer, Dennis, Moreau, Clara, Kaufmann, Tobias, Bragi Walters, G., Ellegaard, Maria, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Modenato, Claudia, Monereo Sánchez, Jennifer, Morris, Derek W., Mühleisen, Thomas W., Pausova, Zdenka, Olde Loohuis, Loes M., Peralta, Juan M., Pike, G. Bruce, Prieto, Carlos, Quinlan, Erin B., Wright, Margaret J., Reinbold, Céline S., Stefansson, Hreinn, Reis Marques, Tiago, Bernard, Manon, Rucker, James J. H., Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Agartz, Ingrid, Shin, Jean, Shumskaya, Elena, Stefansson, Kari, Silva, Ana I., Sisodiya, Sanjay M., Blackburn, Nicholas B., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Suzuki, Ikuo K., Djurovic, Srdjan, Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Jacquemont, Sébastien, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Ulfarsson, Magnus O., Blangero, John, van't Ent, Dennis, van den Bree, Marianne B. M., Westlye, Lars T., Vanderhaeghen, Pierre, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Thompson, Paul M., Boomsma, Dorret I., Andreassen, Ole A., Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Bøen, Rune, Groenewold, Nynke A., Cahn, Wiepke, Hashimoto, Ryota, Calhoun, Vincent, Caspers, Svenja, Ching, Christopher R. K., Cichon, Sven, Ciufolini, Simone, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Gústafsson, Ómar, Dalvie, Shareefa, Dazzan, Paola, Hehir-Kwa, Jayne Y., de Geus, de Geus, Zubicaray, Greig I. de, de Zwarte, Sonja M. C., Desrivieres, Sylvane, Doherty, Joanne L., Donohoe, Gary, Draganski, Bogdan, Haavik, Jan, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Hibar, Derrek P., Fejgin, Kim, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Haberg, Asta K., Gareau, Thomas, Ge,Tian, Glahn, David C., Grabe, Hans-Jörgen, Hillegers, Manon H. J., Hall, Jeremy, Hoffmann, Per, Holleran, Laurena, Holmes, Avram J., Homuth, Georg, Hottenga, Jouke-Jan, Murray, Robin M., Hulshoff Pol, Hilleke E., Ophoff, Roel A., Ikeda, Masashi, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Jørgensen, Niklas R., Kikuchi, Masataka, Knowles, Emma E. M., Nielsen, Jacob, Kumar, Kuldeep, Le Hellard, Stephanie, Owen, Michael J., Leu, Costin, Linden, David E. J., Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri Johansen, Maillard, Anne M., Martin, Nicholas G., Nordvik, Jan E., Martin-Brevet, Sandra, Mather, Karen A., Mathias, Samuel R., Paus, Tomas, McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meyer-Lindenberg, Andreas, Moberget, Torgeir, and Nyberg, Lars
Abstract: Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
Published: 2021

25. Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies

Author: Pearson, John V., Huentelman, Matthew J., Halperin, Rebecca F., Tembe, Waibhav D., Melquist, Stacey, Homer, Nils, Brun, Marcel, Szelinger, Szabolcs, Coon, Keith D., Zismann, Victoria L., Webster, Jennifer A., Beach, Thomas, Sando, Sigrid B., Aasly, Jan O.;, Heun, Reinhard, Jessen, Frank, Kolsch, Heike, Tsolaki, Magdalini, Daniilidou, Makrina, Reiman, Eric M., Papassotiropoulos, Andreas, Hutton, Michael L., Stephan, Dietrich A., and Craig, David W.
Subjects: Single nucleotide polymorphisms -- Research, DNA microarrays -- Research, Alzheimer's disease -- Genetic aspects, Alzheimer's disease -- Research, Biological sciences
Abstract: The development and validation of experimental methods, study designs and analysis software are reported for pooling-based genomewide association (GWA) studies. The results of theoretical calculations and their experimental validation suggest that pooling-based genomewide association studies are a logical first step for determining whether major genetic associations exist in diseases with high heritability.
Published: 2007

26. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Author: Sonderby, Ida E., Gustafsson, Omar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret, I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M., Buelow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J. C., de Zubicaray, Greig, I, de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivieres, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Haberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Joensson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E. M., Kolskar, Knut K., Kwok, John B., Le Hellard, Stephanie, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Muehleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Loohuis, Loes M. Olde, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Celine S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santianez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van't Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sebastien, Djurovic, Srdjan, Stefansson, Hreinn, Stefansson, Kari, Thompson, Paul, Andreassen, Ole A., Sonderby, Ida E., Gustafsson, Omar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret, I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M., Buelow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J. C., de Zubicaray, Greig, I, de Zwarte, Sonja M. C., Delanty, Norman, den Braber, Anouk, Desrivieres, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Haberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H. J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Joensson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E. M., Kolskar, Knut K., Kwok, John B., Le Hellard, Stephanie, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Muehleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Loohuis, Loes M. Olde, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Celine S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santianez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne-Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van't Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E. M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sebastien, Djurovic, Srdjan, Stefansson, Hreinn, Stefansson, Kari, Thompson, Paul, and Andreassen, Ole A.
Abstract: Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes., Correction: Sønderby, I.E., Gústafsson, Ó., Doan, N.T. et al. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry 25, 692–695 (2020). https://doi.org/10.1038/s41380-019-0358-8
Published: 2020
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27. Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

Author: van der Meer, Dennis, Sønderby, Ida E, Kaufmann, Tobias, Walters, G Bragi, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas B, Blangero, John, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Cahn, Wiepke, Calhoun, Vince D, Caspers, Svenja, Cavalleri, Gianpiero L, Ching, Christopher R K, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I, de Zwarte, Sonja M C, Delanty, Norman, den Braber, Anouk, Desrivieres, Sylvane, Di Forti, Marta, Doherty, Joanne L, Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E, Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans J, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Hibar, Derrek P, Hillegers, Manon H J, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Ikeda, Masashi, Jacquemont, Sébastien, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G, Kikuchi, Masataka, Knowles, Emma E M, Kwok, John B, Le Hellard, Stephanie, Linden, David E J, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Mather, Karen A, Mathias, Samuel R, McMahon, Katie L, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Moreau, Clara, Morris, Derek W, Mühleisen, Thomas W, Murray, Robin M, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel A, Owen, Michael J, Paus, Tomas, Pausova, Zdenka, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Quinlan, Erin Burke, Reinbold, Céline S, Reis Marques, Tiago, Rucker, James J H, Sachdev, Perminder S, Sando, Sigrid B, Schofield, Peter R, Schork, Andrew J, Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I, Sisodiya, Sanjay M, Steen, Vidar M, Stein, Dan J, Strike, Lachlan T, Tamnes, Christian K, Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Úlfarsson, Magnús Ö, van 't Ent, Dennis, van den Bree, Marianne B M, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J, Zayats, Tetyana, Dale, Anders M, Djurovic, Srdjan, Agartz, Ingrid, Westlye, Lars T, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul M, Andreassen, Ole A, van der Meer, Dennis, Sønderby, Ida E, Kaufmann, Tobias, Walters, G Bragi, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas B, Blangero, John, Boomsma, Dorret I, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Cahn, Wiepke, Calhoun, Vince D, Caspers, Svenja, Cavalleri, Gianpiero L, Ching, Christopher R K, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J C, de Zubicaray, Greig I, de Zwarte, Sonja M C, Delanty, Norman, den Braber, Anouk, Desrivieres, Sylvane, Di Forti, Marta, Doherty, Joanne L, Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E, Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans J, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Hibar, Derrek P, Hillegers, Manon H J, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Ikeda, Masashi, Jacquemont, Sébastien, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G, Kikuchi, Masataka, Knowles, Emma E M, Kwok, John B, Le Hellard, Stephanie, Linden, David E J, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Mather, Karen A, Mathias, Samuel R, McMahon, Katie L, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Moreau, Clara, Morris, Derek W, Mühleisen, Thomas W, Murray, Robin M, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel A, Owen, Michael J, Paus, Tomas, Pausova, Zdenka, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Quinlan, Erin Burke, Reinbold, Céline S, Reis Marques, Tiago, Rucker, James J H, Sachdev, Perminder S, Sando, Sigrid B, Schofield, Peter R, Schork, Andrew J, Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I, Sisodiya, Sanjay M, Steen, Vidar M, Stein, Dan J, Strike, Lachlan T, Tamnes, Christian K, Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Úlfarsson, Magnús Ö, van 't Ent, Dennis, van den Bree, Marianne B M, Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J, Zayats, Tetyana, Dale, Anders M, Djurovic, Srdjan, Agartz, Ingrid, Westlye, Lars T, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul M, and Andreassen, Ole A
Abstract: Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance. Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019. Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort. Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cog
Published: 2020
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28. Correction : Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia (Molecular Psychiatry, (2020), 25, 3, (584-602), 10.1038/s41380-018-0118-1)

Author: Sønderby, Ida E., Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I., Bralten, Janita, Brattbak, Hans Richard, Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J.C., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H.J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Jönsson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E.M., Kolskår, Knut K., Kwok, John B., Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Céline S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van 't Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E.M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, Andreassen, Ole A., other, and, Sønderby, Ida E., Gústafsson, Ómar, Doan, Nhat Trung, Hibar, Derrek P., Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I., Bralten, Janita, Brattbak, Hans Richard, Brodaty, Henry, Brouwer, Rachel M., Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dale, Anders M., Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco J.C., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E., Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans, Groenewold, Nynke A., Haavik, Jan, Håberg, Asta, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Heinz, Andreas, Hillegers, Manon H.J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke Jan, Hulshoff, Hilleke E., Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A., Jönsson, Erik G., Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma E.M., Kolskår, Knut K., Kwok, John B., Hellard, Stephanie Le, Leu, Costin, Liu, Jingyu, Lundervold, Astri J., Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Mühleisen, Thomas W., Murray, Robin, Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Quintana, Daniel S., Reinbold, Céline S., Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Rucker, James, Sachdev, Perminder, Sanders, Anne Marthe, Sando, Sigrid B., Schmaal, Lianne, Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Sisodiya, Sanjay, Steen, Vidar M., Stein, Dan J., Steinberg, Stacy, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Tordesillas-Gutierrez, Diana, Turner, Jessica, Ueland, Torill, Uhlmann, Anne, Ulfarsson, Magnus O., van 't Ent, Dennis, van der Meer, Dennis, van Haren, Neeltje E.M., Vaskinn, Anja, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D., Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Zayats, Tetyana, Agartz, Ingrid, Westlye, Lars T., Jacquemont, Sébastien, Djurovic, Srdjan, Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul, Andreassen, Ole A., and other, and
Abstract: Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in the original article has now been updated to include all authors, and Supplementary Table 1 has been removed. All other supplementary files have now been updated accordingly. Furthermore, in Table 1 of this Article, the replication cohort for the row Close relative in data set, n (%) was incorrect. All values have now been corrected to 0(0%). The publishers would like to apologise for this error and the inconvenience it may have caused.
Published: 2020

29. Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study (Scientific Reports, (2019), 9, 1, (7013), 10.1038/s41598-019-43458-2)

Author: Rongve, Arvid, Witoelar, Aree, Ruiz, Agustín, Athanasiu, Lavinia, Abdelnour, Carla, Clarimon, Jordi, Heilmann-Heimbach, Stefanie, Hernández, Isabel, Moreno-Grau, Sonia, de Rojas, Itziar, Morenas-Rodríguez, Estrella, Fladby, Tormod, Sando, Sigrid B., Bråthen, Geir, Blanc, Frédéric, Bousiges, Olivier, Lemstra, Afina W., van Steenoven, Inger, Londos, Elisabet, Almdahl, Ina S., Pålhaugen, Lene, Eriksen, Jon A., Djurovic, Srdjan, Stordal, Eystein, Saltvedt, Ingvild, Ulstein, Ingun D., Bettella, Francesco, Desikan, Rahul S., Idland, Ane-Victoria, Toft, Mathias, Pihlstrøm, Lasse, Snaedal, Jon, Tárraga, Lluís, Boada, Mercè, Lleó, Alberto, Stefánsson, Hreinn, Stefánsson, K. ri, Ramírez, Alfredo, Aarsland, Dag, and Andreassen, Ole A.
Abstract: “The authors would like to thank the Norwegian Dementia Genetics Network (DemGene), the European DLB Consortium (E-DLB), Dementia Genetics Spanish Consortium (DEGESCO) and Genomic Research at Fundació ACE (GR@ACE) Consortium. Fundació ACE would like to thank patients and controls who participated in this project. We are indebted to private donors for their support of Fundació ACE research programs. Fundació ACE collaborates with the Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, Spain) and is one of the participating centers of the Dementia Genetics Spanish Consortium (DEGESCO). The study was founded by the Research Council of Norway, Norwegian Regional Health Authorities and Norwegian Health Association and 237250/EU/JPND (APGeM). The Cohort 2 results were generated with the assistance of financial support of grants PI13/02434 and PI16/01861. Acción Estratégica en Salud, integrated in the Spanish National R + D + I Plan and financed by ISCIII (Instituto de Salud Carlos III)-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER- “Una manera de Hacer Europa”). GR@ACE project has been funded by Fundación bancaria “La Caixa”, Grifols SA, Fundació ACE. The funding sources did not in any way affect the results or presentation of the results.” should read: “The authors would like to thank the Norwegian Dementia Genetics Network (DemGene), the European DLB Consortium (E-DLB), Dementia Genetics Spanish Consortium (DEGESCO) and Genomic Research at Fundació ACE (GR@ACE) Consortium. Fundació ACE would like to thank patients and controls who participated in this project. We are indebted to private donors for their support of Fundació ACE research programs. Fundació ACE collaborates with the Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, Spain) and is one of the participating centers of the Dementia Genetics Spanish Consortium (DEGESCO). The study was founded by the Research Council of Norway, Norwegian Regional Health Authorities and Norwegian Health Association and 237250/EU/JPND (APGeM). The Cohort 2 results were generated with the assistance of financial support of grants PI13/02434 and PI16/01861. Acción Estratégica en Salud, integrated in the Spanish National R + D + I Plan and financed by ISCIII (Instituto de Salud Carlos III)-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER- “Una manera de Hacer Europa”). GR@ACE project has been funded by Fundación bancaria “La Caixa”, Grifols SA, Fundació ACE. The funding sources did not in any way affect the results or presentation of the results. This paper represents independent research partly funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the author and not necessarily those of the NIHR or the Department of Health and Social Care”.
Published: 2019

30. GBA and APOE epsilon 4 associate with sporadic dementia with Lewy bodies in European genome wide association study

Author: Rongve, Arvid, Witoelar, Aree, Ruiz, Agustin, Athanasiu, Lavinia, Abdelnour, Carla, Clarimon, Jordi, Heilmann-Heimbach, Stefanie, Hernandez, Isabel, Moreno-Grau, Sonia, de Rojas, Itziar, Morenas-Rodriguez, Estrella, Fladby, Tormod, Sando, Sigrid B., Brathen, Geir, Blanc, Frederic, Bousiges, Olivier, Lemstra, Afina W., van Steenoven, Inger, Londos, Elisabet, Almdahl, Ina S., Palhaugen, Lene, Eriksen, Jon A., Djurovic, Srdjan, Stordal, Eystein, Saltvedt, Ingvild, Ulstein, Ingun D., Bettella, Francesco, Desikan, Rahul S., Idland, Ane-Victoria, Toft, Mathias, Pihlstrom, Lasse, Snaedal, Jon, Tarraga, Lluis, Boada, Merce, Lleo, Alberto, Stefansson, Hreinn, Stefansson, Kari, Ramirez, Alfredo, Aarsland, Dag, Andreassen, Ole A., Rongve, Arvid, Witoelar, Aree, Ruiz, Agustin, Athanasiu, Lavinia, Abdelnour, Carla, Clarimon, Jordi, Heilmann-Heimbach, Stefanie, Hernandez, Isabel, Moreno-Grau, Sonia, de Rojas, Itziar, Morenas-Rodriguez, Estrella, Fladby, Tormod, Sando, Sigrid B., Brathen, Geir, Blanc, Frederic, Bousiges, Olivier, Lemstra, Afina W., van Steenoven, Inger, Londos, Elisabet, Almdahl, Ina S., Palhaugen, Lene, Eriksen, Jon A., Djurovic, Srdjan, Stordal, Eystein, Saltvedt, Ingvild, Ulstein, Ingun D., Bettella, Francesco, Desikan, Rahul S., Idland, Ane-Victoria, Toft, Mathias, Pihlstrom, Lasse, Snaedal, Jon, Tarraga, Lluis, Boada, Merce, Lleo, Alberto, Stefansson, Hreinn, Stefansson, Kari, Ramirez, Alfredo, Aarsland, Dag, and Andreassen, Ole A.
Abstract: Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide association study in Norwegian and European cohorts of 720 DLB cases and 6490 controls and included 19 top-associated single-nucleotide polymorphisms in an additional cohort of 108 DLB cases and 75545 controls from Iceland. Overall the study included 828 DLB cases and 82035 controls. Variants in the ASH1L/GBA (Chr1q22) and APOE epsilon 4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 x 10(-8)). One additional genetic locus previously linked to psychosis in Alzheimer's disease, ZFPM1 (Chr16q24.2), showed suggestive association with DLB at p-value < 1 x 10(-6). We report two susceptibility loci for DLB at genome-wide significance, providing insight into etiological factors. These findings highlight the complex relationship between the genetic architecture of DLB and other neurodegenerative disorders.
Published: 2019

31. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

Author: Jansen, Iris E, Savage, Jeanne E, Watanabe, Kyoko, Bryois, Julien, Williams, Dylan M, Steinberg, Stacy, Sealock, Julia, Karlsson, Ida K, Hägg, Sara, Athanasiu, Lavinia, Voyle, Nicola, Proitsi, Petroula, Witoelar, Aree, Stringer, Sven, Aarsland, Dag, Almdahl, Ina S, Andersen, Fred, Bergh, Sverre, Bettella, Francesco, Bjornsson, Sigurbjorn, Brækhus, Anne, Bråthen, Geir, de Leeuw, Christiaan, Desikan, Rahul S, Djurovic, Srdjan, Dumitrescu, Logan, Fladby, Tormod, Hohman, Timothy J, Jonsson, Palmi V, Kiddle, Steven J, Rongve, Arvid, Saltvedt, Ingvild, Sando, Sigrid B, Selbæk, Geir, Shoai, Maryam, Skene, Nathan G, Snaedal, Jon, Stordal, Eystein, Ulstein, Ingun D, Wang, Yunpeng, White, Linda R, Hardy, John, Hjerling-Leffler, Jens, Sullivan, Patrick F, van der Flier, Wiesje M, Dobson, Richard, Davis, Lea K, Stefansson, Hreinn, Stefansson, Kari, Pedersen, Nancy L, Ripke, Stephan, Andreassen, Ole A, Posthuma, Danielle, Jansen, Iris E, Savage, Jeanne E, Watanabe, Kyoko, Bryois, Julien, Williams, Dylan M, Steinberg, Stacy, Sealock, Julia, Karlsson, Ida K, Hägg, Sara, Athanasiu, Lavinia, Voyle, Nicola, Proitsi, Petroula, Witoelar, Aree, Stringer, Sven, Aarsland, Dag, Almdahl, Ina S, Andersen, Fred, Bergh, Sverre, Bettella, Francesco, Bjornsson, Sigurbjorn, Brækhus, Anne, Bråthen, Geir, de Leeuw, Christiaan, Desikan, Rahul S, Djurovic, Srdjan, Dumitrescu, Logan, Fladby, Tormod, Hohman, Timothy J, Jonsson, Palmi V, Kiddle, Steven J, Rongve, Arvid, Saltvedt, Ingvild, Sando, Sigrid B, Selbæk, Geir, Shoai, Maryam, Skene, Nathan G, Snaedal, Jon, Stordal, Eystein, Ulstein, Ingun D, Wang, Yunpeng, White, Linda R, Hardy, John, Hjerling-Leffler, Jens, Sullivan, Patrick F, van der Flier, Wiesje M, Dobson, Richard, Davis, Lea K, Stefansson, Hreinn, Stefansson, Kari, Pedersen, Nancy L, Ripke, Stephan, Andreassen, Ole A, and Posthuma, Danielle
Abstract: Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg = 0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver, and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We show strong genetic correlations with multiple health-related outcomes, and Mendelian randomization results suggest a protective effect of cognitive ability on AD risk. These results are a step forward in identifying the genetic factors that contribute to AD risk and add novel insights into the neurobiology of AD.
Published: 2019
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32. Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications

Author: Allen Mariet, Zou Fanggeng, Chai High, Younkin Curtis S, Miles Richard, Nair Asha A, Crook Julia E, Pankratz V, Carrasquillo Minerva M, Rowley Christopher N, Nguyen Thuy, Ma Li, Malphrus Kimberly G, Bisceglio Gina, Ortolaza Alexandra I, Palusak Ryan, Middha Sumit, Maharjan Sooraj, Georgescu Constantin, Schultz Debra, Rakhshan Fariborz, Kolbert Christopher P, Jen Jin, Sando Sigrid B, Aasly Jan O, Barcikowska Maria, Uitti Ryan J, Wszolek Zbigniew K, Ross Owen A, Petersen Ronald C, Graff-Radford Neill R, Dickson Dennis W, Younkin Steven G, and Ertekin-Taner Nilüfer
Subjects: GSTO genes, Disease risk, Gene expression, Association, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract: Abstract Background Glutathione S-transferase omega-1 and 2 genes (GSTO1, GSTO2), residing within an Alzheimer and Parkinson disease (AD and PD) linkage region, have diverse functions including mitigation of oxidative stress and may underlie the pathophysiology of both diseases. GSTO polymorphisms were previously reported to associate with risk and age-at-onset of these diseases, although inconsistent follow-up study designs make interpretation of results difficult. We assessed two previously reported SNPs, GSTO1 rs4925 and GSTO2 rs156697, in AD (3,493 ADs vs. 4,617 controls) and PD (678 PDs vs. 712 controls) for association with disease risk (case-controls), age-at-diagnosis (cases) and brain gene expression levels (autopsied subjects). Results We found that rs156697 minor allele associates with significantly increased risk (odds ratio = 1.14, p = 0.038) in the older ADs with age-at-diagnosis > 80 years. The minor allele of GSTO1 rs4925 associates with decreased risk in familial PD (odds ratio = 0.78, p = 0.034). There was no other association with disease risk or age-at-diagnosis. The minor alleles of both GSTO SNPs associate with lower brain levels of GSTO2 (p = 4.7 × 10-11-1.9 × 10-27), but not GSTO1. Pathway analysis of significant genes in our brain expression GWAS, identified significant enrichment for glutathione metabolism genes (p = 0.003). Conclusion These results suggest that GSTO locus variants may lower brain GSTO2 levels and consequently confer AD risk in older age. Other glutathione metabolism genes should be assessed for their effects on AD and other chronic, neurologic diseases.
Published: 2012
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33. Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

Author: Rongve, Arvid, primary, Witoelar, Aree, additional, Ruiz, Agustín, additional, Athanasiu, Lavinia, additional, Abdelnour, Carla, additional, Clarimon, Jordi, additional, Heilmann-Heimbach, Stefanie, additional, Hernández, Isabel, additional, Moreno-Grau, Sonia, additional, de Rojas, Itziar, additional, Morenas-Rodríguez, Estrella, additional, Fladby, Tormod, additional, Sando, Sigrid B., additional, Bråthen, Geir, additional, Blanc, Frédéric, additional, Bousiges, Olivier, additional, Lemstra, Afina W., additional, van Steenoven, Inger, additional, Londos, Elisabet, additional, Almdahl, Ina S., additional, Pålhaugen, Lene, additional, Eriksen, Jon A., additional, Djurovic, Srdjan, additional, Stordal, Eystein, additional, Saltvedt, Ingvild, additional, Ulstein, Ingun D., additional, Bettella, Francesco, additional, Desikan, Rahul S., additional, Idland, Ane-Victoria, additional, Toft, Mathias, additional, Pihlstrøm, Lasse, additional, Snaedal, Jon, additional, Tárraga, Lluís, additional, Boada, Mercè, additional, Lleó, Alberto, additional, Stefánsson, Hreinn, additional, Stefánsson, Kári, additional, Ramírez, Alfredo, additional, Aarsland, Dag, additional, and Andreassen, Ole A., additional
Published: 2019
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34. The development of cognitive and emotional impairment after a minor stroke: A longitudinal study

Author: Morsund, Åse H., primary, Ellekjær, Hanne, additional, Gramstad, Arne, additional, Reiestad, Magnus T., additional, Midgard, Rune, additional, Sando, Sigrid B., additional, Jonsbu, Egil, additional, and Næss, Halvor, additional
Published: 2019
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35. Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study

Author: Barcikowska Maria, Aasly Jan O, Sando Sigrid B, Pankratz V, Crook Julia E, Zou Fanggeng, Bisceglio Gina D, Ma Li, Hunter Talisha A, Belbin Olivia, Carrasquillo Minerva M, Wszolek Zbigniew K, Dickson Dennis W, Graff-Radford Neill R, Petersen Ronald C, Passmore Peter, Morgan Kevin, and Younkin Steven G
Subjects: Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract: Abstract Background A recently published genome-wide association study (GWAS) of late-onset Alzheimer's disease (LOAD) revealed genome-wide significant association of variants in or near MS4A4A, CD2AP, EPHA1 and CD33. Meta-analyses of this and a previously published GWAS revealed significant association at ABCA7 and MS4A, independent evidence for association of CD2AP, CD33 and EPHA1 and an opposing yet significant association of a variant near ARID5B. In this study, we genotyped five variants (in or near CD2AP, EPHA1, ARID5B, and CD33) in a large (2,634 LOAD, 4,201 controls), independent dataset comprising six case-control series from the USA and Europe. We performed meta-analyses of the association of these variants with LOAD and tested for association using logistic regression adjusted by age-at-diagnosis, gender, and APOE ε4 dosage. Results We found no significant evidence of series heterogeneity. Associations with LOAD were successfully replicated for EPHA1 (rs11767557; OR = 0.87, p = 5 × 10-4) and CD33 (rs3865444; OR = 0.92, p = 0.049), with odds ratios comparable to those previously reported. Although the two ARID5B variants (rs2588969 and rs494288) showed significant association with LOAD in meta-analysis of our dataset (p = 0.046 and 0.008, respectively), the associations did not survive adjustment for covariates (p = 0.30 and 0.11, respectively). We had insufficient evidence in our data to support the association of the CD2AP variant (rs9349407, p = 0.56). Conclusions Our data overwhelmingly support the association of EPHA1 and CD33 variants with LOAD risk: addition of our data to the results previously reported (total n > 42,000) increased the strength of evidence for these variants, providing impressive p-values of 2.1 × 10-15 (EPHA1) and 1.8 × 10-13 (CD33).
Published: 2011
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36. APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; A case control study from central Norway

Author: Saltvedt Ingvild, Sletvold Olav, Hutton Michael L, Cannon Ashley, Melquist Stacey, Sando Sigrid B, White Linda R, Lydersen Stian, and Aasly Jan O
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Background The objective of this study was to analyze factors influencing the risk and timing of Alzheimer's disease (AD) in central Norway. The APOE ε4 allele is the only consistently identified risk factor for late onset Alzheimer's disease (LOAD). We have described the allele frequencies of the apolipoprotein E gene (APOE) in a large population of patients with AD compared to the frequencies in a cognitively-normal control group, and estimated the effect of the APOE ε4 allele on the risk and the age at onset of AD in this population. Methods 376 patients diagnosed with AD and 561 cognitively-normal control individuals with no known first degree relatives with dementia were genotyped for the APOE alleles. Allele frequencies and genotypes in patients and control individuals were compared. Odds Ratio for developing AD in different genotypes was calculated. Results Odds Ratio (OR) for developing AD was significantly increased in carriers of the APOE ε4 allele compared to individuals with the APOE ε3/ε3 genotype. Individuals carrying APOE ε4/ε4 had OR of 12.9 for developing AD, while carriers of APOE ε2/ε4 and APOE ε3/ε4 had OR of 3.2 and 4.2 respectively. The effect of the APOE ε4 allele was weaker with increasing age. Carrying the APOE ε2 allele showed no significant protective effect against AD and did not influence age at onset of the disease. Onset in LOAD patients was significantly reduced in a dose dependent manner from 78.4 years in patients without the APOE ε4 allele, to 75.3 in carriers of one APOE ε4 allele and 72.9 in carriers of two APOE ε4 alleles. Age at onset in early onset AD (EOAD) was not influenced by APOE ε4 alleles. Conclusion APOE ε4 is a very strong risk factor for AD in the population of central Norway, and lowers age at onset of LOAD significantly.
Published: 2008
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37. Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimer’s disease risk

Author: Jansen, Iris E, primary, Savage, Jeanne E, additional, Watanabe, Kyoko, additional, Bryois, Julien, additional, Williams, Dylan M, additional, Steinberg, Stacy, additional, Sealock, Julia, additional, Karlsson, Ida K, additional, Hägg, Sara, additional, Athanasiu, Lavinia, additional, Voyle, Nicola, additional, Proitsi, Petroula, additional, Witoelar, Aree, additional, Stringer, Sven, additional, Aarsland, Dag, additional, Almdahl, Ina S, additional, Andersen, Fred, additional, Bergh, Sverre, additional, Bettella, Francesco, additional, Bjornsson, Sigurbjorn, additional, Brækhus, Anne, additional, Bråthen, Geir, additional, de Leeuw, Christiaan, additional, Desikan, Rahul S, additional, Djurovic, Srdjan, additional, Dumitrescu, Logan, additional, Fladby, Tormod, additional, Homan, Timothy, additional, Jonsson, Palmi V, additional, Kiddle, Steven J, additional, Rongve, K Arvid, additional, Saltvedt, Ingvild, additional, Sando, Sigrid B., additional, Selbæk, Geir, additional, Skenne, Nathan, additional, Snaedal, Jon, additional, Stordal, Eystein, additional, Ulstein, Ingun D., additional, Wang, Yunpeng, additional, White, Linda R, additional, Hjerling-Leffler, Jens, additional, Sullivan, Patrick F, additional, van der Flier, Wiesje M, additional, Dobson, Richard, additional, Davis, Lea K., additional, Stefansson, Hreinn, additional, Stefansson, Kari, additional, Pedersen, Nancy L, additional, Ripke, Stephan, additional, Andreassen, Ole A, additional, and Posthuma, Danielle, additional
Published: 2018
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38. Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer’s Disease, But Has Similar Diagnostic Accuracy to Aβ42

Author: Lauridsen, Camilla, primary, Sando, Sigrid B., additional, Møller, Ina, additional, Berge, Guro, additional, Pomary, Precious K., additional, Grøntvedt, Gøril R., additional, Salvesen, Øyvind, additional, Bråthen, Geir, additional, and White, Linda R., additional
Published: 2017
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39. Cerebrospinal Fluid Levels of Amyloid Beta 1-43 Mirror 1-42 in Relation to Imaging Biomarkers of Alzheimer’s Disease

Author: Almdahl, Ina S., primary, Lauridsen, Camilla, additional, Selnes, Per, additional, Kalheim, Lisa F., additional, Coello, Christopher, additional, Gajdzik, Beata, additional, Møller, Ina, additional, Wettergreen, Marianne, additional, Grambaite, Ramune, additional, Bjørnerud, Atle, additional, Bråthen, Geir, additional, Sando, Sigrid B., additional, White, Linda R., additional, and Fladby, Tormod, additional
Published: 2017
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40. Onset of dementia with Lewy bodies is delayed for carriers of the apolipoprotein E e2 genotype in a Norwegian cohort

Author: Berge, Guro, Sando, Sigrid B, Rongve, Arvid, Aarsland, Dag, and White, Linda R
Published: 2014
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41. Alpha-synuclein measured in cerebrospinal fluid from patients with Alzheimer’s disease, mild cognitive impairment, or healthy controls: a two year follow-up study

Author: Berge, Guro, primary, Sando, Sigrid B., additional, Albrektsen, Grethe, additional, Lauridsen, Camilla, additional, Møller, Ina, additional, Grøntvedt, Gøril R., additional, Bråthen, Geir, additional, and White, Linda R., additional
Published: 2016
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42. Cerebrospinal Fluid Levels of Amyloid Beta 1–43 in Patients with Amnestic Mild Cognitive Impairment or Early Alzheimer’s Disease: A 2-Year Follow-Up Study

Author: Lauridsen, Camilla, primary, Sando, Sigrid B., additional, Shabnam, Adiba, additional, Møller, Ina, additional, Berge, Guro, additional, Grøntvedt, Gøril R., additional, Bakken, Inger J., additional, Salvesen, Øyvind, additional, Bråthen, Geir, additional, and White, Linda R., additional
Published: 2016
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43. Association of Butyrylcholinesterase-K Allele and Apolipoprotein E ɛ4 Allele with Cognitive Decline in Dementia with Lewy Bodies and Alzheimer’s Disease

Author: Vijayaraghavan, Swetha, primary, Darreh-Shori, Taher, additional, Rongve, Arvid, additional, Berge, Guro, additional, Sando, Sigrid B., additional, White, Linda R., additional, Auestad, Bjørn H., additional, Witoelar, Aree, additional, Andreassen, Ole A., additional, Ulstein, Ingun D., additional, and Aarsland, Dag, additional
Published: 2016
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44. Erratum to : Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility

Author: Sevlever, Daniel, Zou, Fanggeng, Ma, Li, Carrasquillo, Sebastian, Crump, Michael G., Culley, Oliver J., Hunter, Talisha A., Bisceglio, Gina D., Younkin, Linda, Allen, Mariet, Carrasquillo, Minerva M., Sando, Sigrid B., Aasly, Jan O., Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Deák, Ferenc, Belbin, Olivia, Universitat Autònoma de Barcelona, Sevlever, Daniel, Zou, Fanggeng, Ma, Li, Carrasquillo, Sebastian, Crump, Michael G., Culley, Oliver J., Hunter, Talisha A., Bisceglio, Gina D., Younkin, Linda, Allen, Mariet, Carrasquillo, Minerva M., Sando, Sigrid B., Aasly, Jan O., Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Deák, Ferenc, Belbin, Olivia, and Universitat Autònoma de Barcelona
Published: 2015

45. ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease

Author: Medway, Christopher W., Abdul-Hay, Samer, Mims, Tynickwa, Ma, Li, Bisceglio, Gina, Zou, Fanggeng, Pankratz, Shane, Sando, Sigrid B., Aasly, Jan O., Barcikowska, Maria, Siuda, Joanna, Wszolek, Zbigniew K., Ross, Owen A., Carrasquillo, Minerva, Dickson, Dennis W., Graff-Radford, Neill, Petersen, Ronald C., Ertekin-Taner, Nilüfer, Morgan, Kevin, Bu, Guojun, Younkin, Steven G., Medway, Christopher W., Abdul-Hay, Samer, Mims, Tynickwa, Ma, Li, Bisceglio, Gina, Zou, Fanggeng, Pankratz, Shane, Sando, Sigrid B., Aasly, Jan O., Barcikowska, Maria, Siuda, Joanna, Wszolek, Zbigniew K., Ross, Owen A., Carrasquillo, Minerva, Dickson, Dennis W., Graff-Radford, Neill, Petersen, Ronald C., Ertekin-Taner, Nilüfer, Morgan, Kevin, Bu, Guojun, and Younkin, Steven G.
Abstract: Recent genome-wide association studies (GWAS) of late-onset Alzheimer's disease (LOAD) have identified single nucleotide polymorphisms (SNPs) which show significant association at the well-known APOE locus and at nineteen additional loci. Among the functional, disease-associated variants at these loci, missense variants are particularly important because they can be readily investigated in model systems to search for novel therapeutic targets. It is now possible to perform a low-cost search for these "actionable" variants by genotyping the missense variants at known LOAD loci already cataloged on the Exome Variant Server (EVS). In this proof-of-principle study designed to explore the efficacy of this approach, we analyzed three rare EVS variants in APOE, p.L28P, p.R145C and p.V236E, in our case control series of 9114 subjects. p.R145C proved to be too rare to analyze effectively. The minor allele of p.L28P, which was in complete linkage disequilibrium (D' = 1) with the far more common APOE 4 allele, showed no association with LOAD (P = 0.75) independent of the APOE 4 allele. p.V236E was significantly associated with a marked reduction in risk of LOAD (P = 7.5×10-05; OR = 0.10, 0.03 to 0.45). The minor allele of p.V236E, which was in complete linkage disequilibrium (D' = 1) with the common APOE 3 allele, identifies a novel LOAD-associated haplotype (APOE 3b) which is associated with decreased risk of LOAD independent of the more abundant APOE 2, 3 and 4 haplotypes. Follow-up studies will be important to confirm the significance of this association and to better define its odds ratio. The ApoE p.V236E substitution is the first disease-associated change located in the lipid-binding, C-terminal domain of the protein. Thus our study (i) identifies a novel APOE missense variant which may profitably be studied to better understand how ApoE function may be modified to reduce risk of LOAD and (ii) indicates that analysis of protein-altering variants cataloged on the EVS can
Published: 2014

46. ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer’s disease

Author: Medway, Christopher W, primary, Abdul-Hay, Samer, additional, Mims, Tynickwa, additional, Ma, Li, additional, Bisceglio, Gina, additional, Zou, Fanggeng, additional, Pankratz, Shane, additional, Sando, Sigrid B, additional, Aasly, Jan O, additional, Barcikowska, Maria, additional, Siuda, Joanna, additional, Wszolek, Zbigniew K, additional, Ross, Owen A, additional, Carrasquillo, Minerva, additional, Dickson, Dennis W, additional, Graff-Radford, Neill, additional, Petersen, Ronald C, additional, Ertekin-Taner, Nilüfer, additional, Morgan, Kevin, additional, Bu, Guojun, additional, and Younkin, Steven G, additional
Published: 2014
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47. LRRTM3 Interacts with APP and BACE1 and Has Variants Associating with Late-Onset Alzheimer’s Disease (LOAD)

Author: Lincoln, Sarah, primary, Allen, Mariet, additional, Cox, Claire L., additional, Walker, Louise P., additional, Malphrus, Kimberly, additional, Qiu, Yushi, additional, Nguyen, Thuy, additional, Rowley, Christopher, additional, Kouri, Naomi, additional, Crook, Julia, additional, Pankratz, V. Shane, additional, Younkin, Samuel, additional, Younkin, Linda, additional, Carrasquillo, Minerva, additional, Zou, Fanggeng, additional, Abdul-Hay, Samer O., additional, Springer, Wolfdieter, additional, Sando, Sigrid B., additional, Aasly, Jan O., additional, Barcikowska, Maria, additional, Wszolek, Zbigniew K., additional, Lewis, Jada M., additional, Dickson, Dennis, additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Eckman, Elizabeth, additional, Younkin, Steven G., additional, and Ertekin-Taner, Nilüfer, additional
Published: 2013
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48. Fine-mapping and candidate gene investigation within the PARK10 locus

Author: Haugarvoll, Kristoffer, primary, Toft, Mathias, additional, Skipper, Lisa, additional, Heckman, Michael G, additional, Crook, Julia E, additional, Soto, Alexandra, additional, Ross, Owen A, additional, Hulihan, Mary M, additional, Kachergus, Jennifer M, additional, Sando, Sigrid B, additional, White, Linda R, additional, Lynch, Timothy, additional, Gibson, J Mark, additional, Uitti, Ryan J, additional, Wszolek, Zbigniew K, additional, Aasly, Jan O, additional, and Farrer, Matthew J, additional
Published: 2008
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49. APOE ε4 lowers age at onset and is a high risk factor for Alzheimer's disease; A case control study from central Norway

Author: Sando, Sigrid B, primary, Melquist, Stacey, additional, Cannon, Ashley, additional, Hutton, Michael L, additional, Sletvold, Olav, additional, Saltvedt, Ingvild, additional, White, Linda R, additional, Lydersen, Stian, additional, and Aasly, Jan O, additional
Published: 2008
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50. Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.

Author: Sevlever, Daniel, Fanggeng Zou, Li Ma, Carrasquillo, Sebastian, Crump, Michael G., Culley, Oliver J., Hunter, Talisha A., Bisceglio, Gina D., Younkin, Linda, Allen, Mariet, Carrasquillo, Minerva M., Sando, Sigrid B., Aasly, Jan O., Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Morgan, Kevin, and Belbin, Olivia
Subjects: GENETICS of Alzheimer's disease, MEMBRANE proteins, VESICLES (Cytology), PATHOLOGICAL physiology, DISEASE susceptibility, PROTEIN expression
Abstract: Background: Alzheimer's disease is a neurodegenerative disorder in which extracellular deposition of ß-amyloid (Aß) oligomers causes synaptic injury resulting in early memory loss, altered homeostasis, accumulation of hyperphosphorylated tau and cell death. Since proteins in the SNAP (Soluble N-ethylmaleimide-sensitive factor Attachment Protein) REceptors (SNARE) complex are essential for neuronal Aß release at pre-synaptic terminals, we hypothesized that genetically controlled SNARE expression could alter neuronal Aß release at the synapse and hence play an early role in Alzheimer's pathophysiology. Results: Here we report 5 polymorphisms in Vesicle-Associated Membrane Protein 1 (VAMP1), a gene encoding a member of the SNARE complex, associated with bidirectionally altered cerebellar VAMP1 transcript levels (all p < 0.05). At the functional level, we demonstrated that control of VAMP1 expression by heterogeneous knockdown in mice resulted in up to 74% reduction in neuronal Aß exocytosis (p < 0.001). We performed a case-control association study of the 5 VAMP1 expression regulating polymorphisms in 4,667 Alzheimer's disease patients and 6,175 controls to determine their contribution to Alzheimer's disease risk. We found that polymorphisms associated with increased brain VAMP1 transcript levels conferred higher risk for Alzheimer's disease than those associated with lower VAMP1 transcript levels (p = 0.03). Moreover, we also report a modest protective association for a common VAMP1 polymorphism with Alzheimer's disease risk (OR = 0.88, p = 0.03). This polymorphism was associated with decreased VAMP1 transcript levels (p = 0.02) and was functionally active in a dual luciferase reporter gene assay (p < 0.01). Conclusions: Genetically regulated VAMP1 expression in the brain may modify both Alzheimer's disease risk and may contribute to Alzheimer's pathophysiology. [ABSTRACT FROM AUTHOR]
Published: 2015
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