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New insights into the genetic etiology of Alzheimer's disease and related dementias
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-MartÃÂn, Emilio; Alcolea, Daniel; Alegret, Montserrat; Alvarez, Ignacio; ÃÂlvarez, 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; BrÃ¥then, 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, ÃÂngel; 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-MacÃÂas, Emlio; Bullido, María J; Frank-GarcÃÂa, Ana; Froelich, Lutz; Fulton-Howard, Brian; Galimberti, Daniela; GarcÃÂa-Alberca, Jose Maria; GarcÃÂa-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; StÃ¥hlbom, 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, William; Lopez, Oscar; de Munain, Adolfo Lopez; Love, Seth; Löwemark, Malin; Luckcuck, Lauren; Lunetta, Kathryn L; Ma, Yiyi; MacÃÂas, Juan; MacLeod, Catherine A; Maier, Wolfgang; Mangialasche, Francesca; Spallazzi, Marco; Marquié, Marta; Marshall, Rachel; Martin, Eden R; Montes, Angel MartÃÂn; RodrÃÂguez, Carmen MartÃÂnez; 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, ÃÂngela; 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, LluÃÂs; TesÃÂ, 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, AgustÃÂn; Ramirez, Alfredo; Lambert, Jean-Charles; Laczo, Jan; Matoska, Vaclav; Serpente, Maria; Assogna, Francesca; Piras, Fabrizio; Piras, Federica; Ciullo, Valentina; Shofany, Jacob; Ferrarese, Carlo; Andreoni, Simona; Sala, Gessica; Zoia, Chiara Paola; Zompo, Maria Del; Benussi, Alberto; Bastiani, Patrizia; Takalo, Mari; Natunen, Teemu; Laatikainen, Tiina; Tuomilehto, Jaakko; Antikainen, Riitta; Strandberg, Timo; Lindström, Jaana; Peltonen, Markku; Abraham, Richard; Al-Chalabi, Ammar; Bass, Nicholas J; Brayne, Carol; Brown, Kristelle S; Collinge, John; Craig, David; Deloukas, Pangiotis; Fox, Nick; Gerrish, Amy; Gill, Michael; Gwilliam, Rhian; Harold, Denise; Hollingworth, Paul; Johnston, Jarret A; Jones, Lesley; Lawlor, Brian; Livingston, Gill; Lovestone, Simon; Lupton, Michelle; Lynch, Aoibhinn; Mann, David; McGuinness, Bernadette; McQuillin, Andrew; O'Donovan, Michael C; Owen, Michael J; Passmore, Peter; Powell, John F; Proitsi, Petra; Rossor, Martin; Shaw, Christopher E; Smith, A David; Gurling, Hugh; Todd, Stephen; Mummery, Catherine; Ryan, Nathalie; Lacidogna, Giordano; Adarmes-Gómez, Ad; Mauleón, Ana; Pancho, Ana; Gailhajenet, Anna; Lafuente, Asunción; Macias-García, D; MartÃn, Elvira; Pelejà , Esther; Carrillo, F; MerlÃn, Isabel Sastre; Garrote-Espina, L; Vargas, Liliana; Carrion-Claro, M; MarÃn, M; Labrador, Ma; Buendia, Mar; Alonso, María Dolores; Guitart, Marina; Moreno, Mariona; Ibarria, Marta; Periñán, Mt; Aguilera, Nuria; Gómez-Garre, P; Cañabate, Pilar; Escuela, R; Pineda-Sánchez, R; Vigo-Ortega, R; Jesús, S; Preckler, Silvia; Rodrigo-Herrero, Silvia; Diego, Susana; Vacca, Alessandro; Roveta, Fausto; Salvadori, Nicola; Chipi, Elena; Boecker, Henning; Laske, Christoph; Perneczky, Robert; Anastasiou, Costas; Janowitz, Daniel; Malik, Rainer; Anastasiou, Anna; Parveen, Kayenat; Lage, Carmen; López-García, Sara; Antonell, Anna; Mihova, Kalina Yonkova; Belezhanska, Diyana; Weber, Heike; Kochen, Silvia; Solis, Patricia; Medel, Nancy; Lisso, Julieta; Sevillano, Zulma; Politis, Daniel G; Cores, Valeria; Cuesta, Carolina; Ortiz, Cecilia; Bacha, Juan Ignacio; Rios, Mario; Saenz, Aldo; Abalos, Mariana Sanchez; Kohler, Eduardo; Palacio, Dana Lis; Etchepareborda, Ignacio; Kohler, Matias; Novack, Gisela; Prestia, Federico Ariel; Galeano, Pablo; Castaño, Eduardo M; Germani, Sandra; Toso, Carlos Reyes; Rojo, Matias; Ingino, Carlos; Mangone, Carlos; Rubinsztein, David C; Teipel, Stefan; Fievet, Nathalie; Deramerourt, Vincent; Forsell, Charlotte; Thonberg, HÃ¥kan; Bjerke, Maria; Roeck, Ellen De; Martínez-Larrad, María Teresa; Olivar, Natividad; Aguilera, Nuria; Cano, Amanda; Cañabate, Pilar; Macias, Juan; Maroñas, Olalla; Nuñez-Llaves, Raúl; Olivé, Clà udia; Pelejá, Ester; Adarmes-Gómez, Astrid D; Alonso, María Dolores; Amer-Ferrer, Guillermo; Antequera, Martirio; Burguera, Juan Andrés; Carrillo, Fátima; Carrión-Claro, Mario; Casajeros, María José; Martinez de Pancorbo, Marian; Escuela, RocÃo; Garrote-Espina, Lorena; Gómez-Garre, Pilar; Hevilla, Saray; Jesús, Silvia; Espinosa, Miguel Angel Labrador; Legaz, Agustina; López-García, Sara; Macias-García, Daniel; Manzanares, Salvadora; MarÃn, Marta; MarÃn-Muñoz, Juan; MarÃn, Tamara; Martínez, Begoña; Martínez, Victoriana; Martínez-Lage Ãlvarez, Pablo; Iriarte, Maite Mendioroz; Periñán-Tocino, María Teresa; Pineda-Sánchez, RocÃo; Real de Asúa, Diego; Rodrigo, Silvia; Sastre, Isabel; Vicente, Maria Pilar; Vigo-Ortega, Rosario; Vivancos, Liliana; Epelbaum, Jacques; Hannequin, Didier; Campion, Dominique; Deramecourt, Vincent; Tzourio, Christophe; Brice, Alexis; Dubois, Bruno; Williams, Amy; Thomas, Charlene; Davies, Chloe; Nash, William; Dowzell, Kimberley; Morales, Atahualpa Castillo; Bernardo-Harrington, Mateus; Turton, James; Lord, Jenny; Brown, Kristelle; Vardy, Emma; Fisher, Elizabeth; Warren, Jason D; Rossor, Martin; Ryan, Natalie S; Guerreiro, Rita; Uphill, James; Bass, Nick; Heun, Reinhard; Kölsch, Heike; Schürmann, Britta; Lacour, André; Herold, Christine; Johnston, Janet A; Passmore, Peter; Powell, John; Patel, Yogen; Hodges, Angela; Becker, Tim; Warden, Donald; Wilcock, Gordon; Clarke, Robert; Deloukas, Panagiotis; Ben-Shlomo, Yoav; Hooper, Nigel M; Pickering-Brown, Stuart; Sussams, Rebecca; Warner, Nick; Bayer, Anthony; Heuser, Isabella; Drichel, Dmitriy; Klopp, Norman; Mayhaus, Manuel; Riemenschneider, Matthias; Pinchler, Sabrina; Feulner, Thomas; Gu, Wei; van den Bussche, Hendrik; Hüll, Michael; Frölich, Lutz; Wichmann, H-Erich; Jöckel, Karl-Heinz; O'Donovan, Michael; Owen, Michael; Bahrami, Shahram; Bosnes, Ingunn; Selnes, Per; Bergh, Sverre; Palotie, Aarno; Daly, Mark; Jacob, Howard; Matakidou, Athena; Runz, Heiko; John, Sally; Plenge, Robert; McCarthy, Mark; Hunkapiller, Julie; Ehm, Meg; Waterworth, Dawn; Fox, Caroline; Malarstig, Anders; Klinger, Kathy; Call, Kathy; Behrens, Tim; Loerch, Patrick; Mäkelä, Tomi; Kaprio, Jaakko; Virolainen, Petri; Pulkki, Kari; Kilpi, Terhi; Perola, Markus; Partanen, Jukka; Pitkäranta, Anne; Kaarteenaho, Riitta; Vainio, Seppo; Turpeinen, Miia; Serpi, Raisa; Laitinen, Tarja; Mäkelä, Johanna; Kosma, Veli-Matti; Kujala, Urho; Tuovila, Outi; Hendolin, Minna; Pakkanen, Raimo; Waring, Jeff; Riley-Gillis, Bridget; Liu, Jimmy; Biswas, Shameek; Diogo, Dorothee; Marshall, Catherine; Hu, Xinli; Gossel, Matthias; Graham, Robert; Cummings, Beryl; Ripatti, Samuli; Schleutker, Johanna; Arvas, Mikko; Carpén, Olli; Hinttala, Reetta; Kettunen, Johannes; Mannermaa, Arto; Laukkanen, Jari; Julkunen, Valtteri; Remes, Anne; Kälviäinen, Reetta; Peltola, Jukka; Tienari, Pentti; Rinne, Juha; Ziemann, Adam; Waring, Jeffrey; Esmaeeli, Sahar; Smaoui, Nizar; Lehtonen, Anne; Eaton, Susan; Lahdenperä, Sanni; van Adelsberg, Janet; Michon, John; Kerchner, Geoff; Bowers, Natalie; Teng, Edmond; Eicher, John; Mehta, Vinay; Gormley, Padhraig; Linden, Kari; Whelan, Christopher; Xu, Fanli; Pulford, David; Färkkilä, Martti; Pikkarainen, Sampsa; Jussila, Airi; Blomster, Timo; Kiviniemi, Mikko; Voutilainen, Markku; Georgantas, Bob; Heap, Graham; Rahimov, Fedik; Usiskin, Keith; Lu, Tim; Oh, Danny; Kalpala, Kirsi; Miller, Melissa; McCarthy, Linda; Eklund, Kari; Palomäki, Antti; Isomäki, Pia; Pirilä, Laura; Kaipiainen-Seppänen, Oili; Huhtakangas, Johanna; Lertratanakul, Apinya; Hochfeld, Marla; Bing, Nan; Gordillo, Jorge Esparza; Mars, Nina; Pelkonen, Margit; Kauppi, Paula; Kankaanranta, Hannu; Harju, Terttu; Close, David; Greenberg, Steven; Chen, Hubert; Betts, Jo; Ghosh, Soumitra; Salomaa, Veikko; Niiranen, Teemu; Juonala, Markus; Metsärinne, Kaj; Kähönen, Mika; Junttila, Juhani; Laakso, Markku; Pihlajamäki, Jussi; Sinisalo, Juha; Taskinen, Marja-Riitta; Tuomi, Tiinamaija; Challis, Ben; Peterson, Andrew; Chu, Audrey; Parkkinen, Jaakko; Muslin, Anthony; Joensuu, Heikki; Meretoja, Tuomo; Aaltonen, Lauri; Mattson, Johanna; Auranen, Annika; Karihtala, Peeter; Kauppila, Saila; Auvinen, Päivi; Elenius, Klaus; Popovic, Relja; Schutzman, Jennifer; Loboda, Andrey; Chhibber, Aparna; Lehtonen, Heli; McDonough, Stefan; Crohns, Marika; Kulkarni, Diptee; Kaarniranta, Kai; Turunen, Joni A; Ollila, Terhi; Seitsonen, Sanna; Uusitalo, Hannu; Aaltonen, Vesa; Uusitalo-Järvinen, Hannele; Luodonpää, Marja; Hautala, Nina; Loomis, Stephanie; Strauss, Erich; Chen, Hao; Podgornaia, Anna; Hoffman, Joshua; Tasanen, Kaisa; Huilaja, Laura; Hannula-Jouppi, Katariina; Salmi, Teea; Peltonen, Sirkku; Koulu, Leena; Harvima, Ilkka; Wu, Ying; Choy, David; Pussinen, Pirkko; Salminen, Aino; Salo, Tuula; Rice, David; Nieminen, Pekka; Palotie, Ulla; Siponen, Maria; Suominen, Liisa; Mäntylä, Päivi; Gursoy, Ulvi; Anttonen, Vuokko; Sipilä, Kirsi; Davis, Justin Wade; Quarless, Danjuma; Petrovski, Slavé; Wigmore, Eleonor; Chen, Chia-Yen; Bronson, Paola; Tsai, Ellen; Huang, Yunfeng; Maranville, Joseph; Shaikho, Elmutaz; Mohammed, Elhaj; Wadhawan, Samir; Kvikstad, Erika; Caliskan, Minal; Chang, Diana; Bhangale, Tushar; Pendergrass, Sarah; Holzinger, Emily; Chen, Xing; Hedman, Ã…sa; King, Karen S; Wang, Clarence; Xu, Ethan; Auge, Franck; Chatelain, Clement; Rajpal, Deepak; Liu, Dongyu; Call, Katherine; Xia, Tai-He; Brauer, Matt; Kurki, Mitja; Karjalainen, Juha; Havulinna, Aki; Jalanko, Anu; Palta, Priit; Della Briotta Parolo, Pietro; Zhou, Wei; Lemmelä, Susanna; Rivas, Manuel; Harju, Jarmo; Lehisto, Arto; Ganna, Andrea; Llorens, Vincent; Laivuori, Hannele; Rüeger, Sina; Niemi, Mari E; Tukiainen, Taru; Reeve, Mary Pat; Heyne, Henrike; Palin, Kimmo; Garcia-Tabuenca, Javier; Siirtola, Harri; Kiiskinen, Tuomo; Lee, Jiwoo; Tsuo, Kristin; Elliott, Amanda; Kristiansson, Kati; Hyvärinen, Kati; Ritari, Jarmo; Koskinen, Miika; Pylkäs, Katri; Kalaoja, Marita; Karjalainen, Minna; Mantere, Tuomo; Kangasniemi, Eeva; Heikkinen, Sami; Laakkonen, Eija; Sipeky, Csilla; Heron, Samuel; Karlsson, Antti; Jambulingam, Dhanaprakash; Rathinakannan, Venkat Subramaniam; Kajanne, Risto; Aavikko, Mervi; Jiménez, Manuel González; Della Briotta Parola, Pietro; Lehistö, Arto; Kanai, Masahiro; Kaunisto, Mari; Kilpeläinen, Elina; Sipilä, Timo P; Brein, Georg; Awaisa, Ghazal; Shcherban, Anastasia; Donner, Kati; Loukola, Anu; Laiho, Päivi; Sistonen, Tuuli; Kaiharju, Essi; Laukkanen, Markku; Järvensivu, Elina; Lähteenmäki, Sini; Männikkö, Lotta; Wong, Regis; Mattsson, Hannele; Hiekkalinna, Tero; Paajanen, Teemu; Pärn, Kalle; Gracia-Tabuenca, Javier; Abner, Erin; Adams, Perrie M; Aguirre, Alyssa; Albert, Marilyn S; Albin, Roger L; Allen, Mariet; Alvarez, Lisa; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Ayres, Gayle; Baldwin, Clinton T; Barber, Robert C; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Beecham, Gary W; Beekly, Duane; Below, Jennifer E; Benchek, Penelope; Benitez, Bruno A; Bennett, David; Bertelson, John; Margaret, Flanagan E; Bird, Thomas D; Blacker, Deborah; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Brewer, James; Burke, James R; Burns, Jeffrey M; Bush, Will S; Buxbaum, Joseph D; Cairns, Nigel J; Cao, Chuanhai; Carlson, Christopher S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Chasse, Scott; Chesselet, Marie-Francoise; Chesi, Alessandra; Chin, Nathaniel A; Chui, Helena C; Chung, Jaeyoon; Craft, Suzanne; Crane, Paul K; Cribbs, David H; Crocco, Elizabeth A; Cruchaga, Carlos; Cuccaro, Michael L; Cullum, Munro; Darby, Eveleen; Davis, Barbara; De Jager, Philip L; DeCarli, Charles; DeToledo, John; Dick, Malcolm; Dickson, Dennis W; Dombroski, Beth A; Doody, Rachelle S; Duara, Ranjan; Ertekin-Taner, Nilüfer; Evans, Denis A; Fairchild, Thomas J; Fallon, Kenneth B; Farlow, Martin R; Farrell, John J; Fernandez-Hernandez, Victoria; Ferris, Steven; Frosch, Matthew P; Fulton-Howard, Brian; Galasko, Douglas R; Gamboa, Adriana; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Grabowski, Thomas J; Graff-Radford, Neill R; Grant, Struan F A; Green, Robert C; Growdon, John H; Haines, Jonathan L; Hakonarson, Hakon; Hall, James; Hamilton, Ronald L; Harari, Oscar; Harrell, Lindy E; Haut, Jacob; Head, Elizabeth; Henderson, Victor W; Hernandez, Michelle; Hohman, Timothy; Honig, Lawrence S; Huebinger, Ryan M; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Hynan, Linda S; Ibanez, Laura; Jarvik, Gail P; Jayadev, Suman; Jin, Lee-Way; Johnson, Kim; Johnson, Leigh; Kamboh, M Ilyas; Karydas, Anna M; Katz, Mindy J; Kaye, Jeffrey A; Keene, C Dirk; Khaleeq, Aisha; Kim, Ronald; Knebl, Janice; Kowall, Neil W; Kramer, Joel H; Kuksa, Pavel P; LaFerla, Frank M; Lah, James J; Larson, Eric B; Lee, Chien-Yueh; Lee, Edward B; Lerner, Alan; Leung, Yuk Yee; Leverenz, James B; Levey, Allan I; Li, Mingyao; Lieberman, Andrew P; Lipton, Richard B; Logue, Mark; Lyketsos, Constantine G; Malamon, John; Mains, Douglas; Marson, Daniel C; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; Massman, Paul; Masurkar, Arjun; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McDonough, Stefan; McKee, Ann C; Mesulam, Marsel; Mez, Jesse; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Montine, Thomas J; Monuki, Edwin S; Morris, John C; Myers, Amanda J; Nguyen, Trung; O'Bryant, Sid; Olichney, John M; Ory, Marcia; Palmer, Raymond; Parisi, Joseph E; Paulson, Henry L; Pavlik, Valory; Paydarfar, David; Perez, Victoria; Peskind, Elaine; Petersen, Ronald C; Phillips-Cremins, Jennifer E; Pierce, Aimee; Polk, Marsha; Poon, Wayne W; Potter, Huntington; Qu, Liming; Quiceno, Mary; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reiman, Eric M; Reisberg, Barry; Reisch, Joan S; Ringman, John M; Roberson, Erik D; Rodriguear, Monica; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Royall, Donald R; Sager, Mark A; Sano, Mary; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Slifer, Susan H; Small, Scott; Smith, Amanda G; Smith, Janet P; Song, Yeunjoo E; Sonnen, Joshua A; Spina, Salvatore; George-Hyslop, Peter St; Stern, Robert A; Stevens, Alan B; Strittmatter, Stephen M; Sultzer, David; Swerdlow, Russell H; Tanzi, Rudolph E; Tilson, Jeffrey L; Trojanowski, John Q; Troncoso, Juan C; Tsuang, Debby W; Valladares, Otto; Van Deerlin, Vivianna M; van Eldik, Linda J; Vassar, Robert; Vinters, Harry V; Vonsattel, Jean-Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Whitehead, Patrice L; Wijsman, Ellen M; Wilhelmsen, Kirk C; Williams, Benjamin; Williamson, Jennifer; Wilms, Henrik; Wingo, Thomas S; Wisniewski, Thomas; Woltjer, Randall L; Woon, Martin; Wright, Clinton B; Wu, Chuang-Kuo; Younkin, Steven G; Yu, Chang-En; Yu, Lei; Zhang, Yuanchao; Zhao, Yi; Zhu, Xiongwei; Adams, Hieab; Akinyemi, Rufus O; Ali, Muhammad; Armstrong, Nicola; Aparicio, Hugo J; Bahadori, Maryam; Becker, James T; Breteler, Monique; Chasman, Daniel; Chauhan, Ganesh; Comic, Hata; Cox, Simon; Cupples, Adrienne L; Davies, Gail; DeCarli, Charles S; Duperron, Marie-Gabrielle; Dupuis, Josée; Evans, Tavia; Fan, Frank; Fitzpatrick, Annette; Fohner, Alison E; Ganguli, Mary; Geerlings, Mirjam; Glatt, Stephen J; Gonzalez, Hector M; Goss, Monica; Grabe, Hans; Habes, Mohamad; Heckbert, Susan R; Hofer, Edith; Hong, Elliot; Hughes, Timothy; Kautz, Tiffany F; Knol, Maria; Kremen, William; Lacaze, Paul; Lahti, Jari; Grand, Quentin Le; Litkowski, Elizabeth; Li, Shuo; Liu, Dan; Liu, Xuan; Loitfelder, Marisa; Manning, Alisa; Maillard, Pauline; Marioni, Riccardo; Mazoyer, Bernard; van Lent, Debora Melo; Mei, Hao; Mishra, Aniket; Nyquist, Paul; O'Connell, Jeffrey; Patel, Yash; Paus, Tomas; Pausova, Zdenka; Raikkonen-Talvitie, Katri; Riaz, Moeen; Rich, Stephen; Rotter, Jerome; Romero, Jose; Roshchupkin, Gena; Saba, Yasaman; Sargurupremraj, Murali; Schmidt, Helena; Schmidt, Reinhold; Shulman, Joshua M; Smith, Jennifer; Sekhar, Hema; Rajula, Reddy; Shin, Jean; Simino, Jeannette; Sliz, Eeva; Teumer, Alexander; Thomas, Alvin; Tin, Adrienne; Tucker-Drob, Elliot; Vojinovic, Dina; Wang, Yanbing; Weinstein, Galit; Williams, Dylan; Wittfeld, Katharina; Yanek, Lisa; Yang, Yunju
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
PMCID:9005347
PMID: 35379992
ISSN: 1546-1718
CID: 5213092
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Kunkle, Brian W; Grenier-Boley, Benjamin; Sims, Rebecca; Bis, Joshua C; Damotte, Vincent; Naj, Adam C; Boland, Anne; Vronskaya, Maria; van der Lee, Sven J; Amlie-Wolf, Alexandre; Bellenguez, Céline; Frizatti, Aura; Chouraki, Vincent; Martin, Eden R; Sleegers, Kristel; Badarinarayan, Nandini; Jakobsdottir, Johanna; Hamilton-Nelson, Kara L; Moreno-Grau, Sonia; Olaso, Robert; Raybould, Rachel; Chen, Yuning; Kuzma, Amanda B; Hiltunen, Mikko; Morgan, Taniesha; Ahmad, Shahzad; Vardarajan, Badri N; Epelbaum, Jacques; Hoffmann, Per; Boada, Merce; Beecham, Gary W; Garnier, Jean-Guillaume; Harold, Denise; Fitzpatrick, Annette L; Valladares, Otto; Moutet, Marie-Laure; Gerrish, Amy; Smith, Albert V; Qu, Liming; Bacq, Delphine; Denning, Nicola; Jian, Xueqiu; Zhao, Yi; Del Zompo, Maria; Fox, Nick C; Choi, Seung-Hoan; Mateo, Ignacio; Hughes, Joseph T; Adams, Hieab H; Malamon, John; Sanchez-Garcia, Florentino; Patel, Yogen; Brody, Jennifer A; Dombroski, Beth A; Naranjo, Maria Candida Deniz; Daniilidou, Makrina; Eiriksdottir, Gudny; Mukherjee, Shubhabrata; Wallon, David; Uphill, James; Aspelund, Thor; Cantwell, Laura B; Garzia, Fabienne; Galimberti, Daniela; Hofer, Edith; Butkiewicz, Mariusz; Fin, Bertrand; Scarpini, Elio; Sarnowski, Chloe; Bush, Will S; Meslage, Stéphane; Kornhuber, Johannes; White, Charles C; Song, Yuenjoo; Barber, Robert C; Engelborghs, Sebastiaan; Sordon, Sabrina; Voijnovic, Dina; Adams, Perrie M; Vandenberghe, Rik; Mayhaus, Manuel; Cupples, L Adrienne; Albert, Marilyn S; De Deyn, Peter P; Gu, Wei; Himali, Jayanadra J; Beekly, Duane; Squassina, Alessio; Hartmann, Annette M; Orellana, Adelina; Blacker, Deborah; Rodriguez-Rodriguez, Eloy; Lovestone, Simon; Garcia, Melissa E; Doody, Rachelle S; Munoz-Fernadez, Carmen; Sussams, Rebecca; Lin, Honghuang; Fairchild, Thomas J; Benito, Yolanda A; Holmes, Clive; Karamujić-ÄŒomić, Hata; Frosch, Matthew P; Thonberg, Hakan; Maier, Wolfgang; Roshchupkin, Gennady; Ghetti, Bernardino; Giedraitis, Vilmantas; Kawalia, Amit; Li, Shuo; Huebinger, Ryan M; Kilander, Lena; Moebus, Susanne; Hernández, Isabel; Kamboh, M Ilyas; Brundin, RoseMarie; Turton, James; Yang, Qiong; Katz, Mindy J; Concari, Letizia; Lord, Jenny; Beiser, Alexa S; Keene, C Dirk; Helisalmi, Seppo; Kloszewska, Iwona; Kukull, Walter A; Koivisto, Anne Maria; Lynch, Aoibhinn; Tarraga, LluÃs; Larson, Eric B; Haapasalo, Annakaisa; Lawlor, Brian; Mosley, Thomas H; Lipton, Richard B; Solfrizzi, Vincenzo; Gill, Michael; Longstreth, W T; Montine, Thomas J; Frisardi, Vincenza; Diez-Fairen, Monica; Rivadeneira, Fernando; Petersen, Ronald C; Deramecourt, Vincent; Alvarez, Ignacio; Salani, Francesca; Ciaramella, Antonio; Boerwinkle, Eric; Reiman, Eric M; Fievet, Nathalie; Rotter, Jerome I; Reisch, Joan S; Hanon, Olivier; Cupidi, Chiara; Uitterlinden, A G Andre; Royall, Donald R; Dufouil, Carole; Maletta, Raffaele Giovanni; de Rojas, Itziar; Sano, Mary; Brice, Alexis; Cecchetti, Roberta; George-Hyslop, Peter St; Ritchie, Karen; Tsolaki, Magda; Tsuang, Debby W; Dubois, Bruno; Craig, David; Wu, Chuang-Kuo; Soininen, Hilkka; Avramidou, Despoina; Albin, Roger L; Fratiglioni, Laura; Germanou, Antonia; Apostolova, Liana G; Keller, Lina; Koutroumani, Maria; Arnold, Steven E; Panza, Francesco; Gkatzima, Olymbia; Asthana, Sanjay; Hannequin, Didier; Whitehead, Patrice; Atwood, Craig S; Caffarra, Paolo; Hampel, Harald; Quintela, Inés; Carracedo, Ãngel; Lannfelt, Lars; Rubinsztein, David C; Barnes, Lisa L; Pasquier, Florence; Frölich, Lutz; Barral, Sandra; McGuinness, Bernadette; Beach, Thomas G; Johnston, Janet A; Becker, James T; Passmore, Peter; Bigio, Eileen H; Schott, Jonathan M; Bird, Thomas D; Warren, Jason D; Boeve, Bradley F; Lupton, Michelle K; Bowen, James D; Proitsi, Petra; Boxer, Adam; Powell, John F; Burke, James R; Kauwe, John S K; Burns, Jeffrey M; Mancuso, Michelangelo; Buxbaum, Joseph D; Bonuccelli, Ubaldo; Cairns, Nigel J; McQuillin, Andrew; Cao, Chuanhai; Livingston, Gill; Carlson, Chris S; Bass, Nicholas J; Carlsson, Cynthia M; Hardy, John; Carney, Regina M; Bras, Jose; Carrasquillo, Minerva M; Guerreiro, Rita; Allen, Mariet; Chui, Helena C; Fisher, Elizabeth; Masullo, Carlo; Crocco, Elizabeth A; DeCarli, Charles; Bisceglio, Gina; Dick, Malcolm; Ma, Li; Duara, Ranjan; Graff-Radford, Neill R; Evans, Denis A; Hodges, Angela; Faber, Kelley M; Scherer, Martin; Fallon, Kenneth B; Riemenschneider, Matthias; Fardo, David W; Heun, Reinhard; Farlow, Martin R; Kölsch, Heike; Ferris, Steven; Leber, Markus; Foroud, Tatiana M; Heuser, Isabella; Galasko, Douglas R; Giegling, Ina; Gearing, Marla; Hüll, Michael; Geschwind, Daniel H; Gilbert, John R; Morris, John; Green, Robert C; Mayo, Kevin; Growdon, John H; Feulner, Thomas; Hamilton, Ronald L; Harrell, Lindy E; Drichel, Dmitriy; Honig, Lawrence S; Cushion, Thomas D; Huentelman, Matthew J; Hollingworth, Paul; Hulette, Christine M; Hyman, Bradley T; Marshall, Rachel; Jarvik, Gail P; Meggy, Alun; Abner, Erin; Menzies, Georgina E; Jin, Lee-Way; Leonenko, Ganna; Real, Luis M; Jun, Gyungah R; Baldwin, Clinton T; Grozeva, Detelina; Karydas, Anna; Russo, Giancarlo; Kaye, Jeffrey A; Kim, Ronald; Jessen, Frank; Kowall, Neil W; Vellas, Bruno; Kramer, Joel H; Vardy, Emma; LaFerla, Frank M; Jöckel, Karl-Heinz; Lah, James J; Dichgans, Martin; Leverenz, James B; Mann, David; Levey, Allan I; Pickering-Brown, Stuart; Lieberman, Andrew P; Klopp, Norman; Lunetta, Kathryn L; Wichmann, H-Erich; Lyketsos, Constantine G; Morgan, Kevin; Marson, Daniel C; Brown, Kristelle; Martiniuk, Frank; Medway, Christopher; Mash, Deborah C; Nöthen, Markus M; Masliah, Eliezer; Hooper, Nigel M; McCormick, Wayne C; Daniele, Antonio; McCurry, Susan M; Bayer, Anthony; McDavid, Andrew N; Gallacher, John; McKee, Ann C; van den Bussche, Hendrik; Mesulam, Marsel; Brayne, Carol; Miller, Bruce L; Riedel-Heller, Steffi; Miller, Carol A; Miller, Joshua W; Al-Chalabi, Ammar; Morris, John C; Shaw, Christopher E; Myers, Amanda J; Wiltfang, Jens; O'Bryant, Sid; Olichney, John M; Alvarez, Victoria; Parisi, Joseph E; Singleton, Andrew B; Paulson, Henry L; Collinge, John; Perry, William R; Mead, Simon; Peskind, Elaine; Cribbs, David H; Rossor, Martin; Pierce, Aimee; Ryan, Natalie S; Poon, Wayne W; Nacmias, Benedetta; Potter, Huntington; Sorbi, Sandro; Quinn, Joseph F; Sacchinelli, Eleonora; Raj, Ashok; Spalletta, Gianfranco; Raskind, Murray; Caltagirone, Carlo; Bossù, Paola; Orfei, Maria Donata; Reisberg, Barry; Clarke, Robert; Reitz, Christiane; Smith, A David; Ringman, John M; Warden, Donald; Roberson, Erik D; Wilcock, Gordon; Rogaeva, Ekaterina; Bruni, Amalia Cecilia; Rosen, Howard J; Gallo, Maura; Rosenberg, Roger N; Ben-Shlomo, Yoav; Sager, Mark A; Mecocci, Patrizia; Saykin, Andrew J; Pastor, Pau; Cuccaro, Michael L; Vance, Jeffery M; Schneider, Julie A; Schneider, Lori S; Slifer, Susan; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Swerdlow, Russell H; Tang, Mitchell; Tanzi, Rudolph E; Trojanowski, John Q; Troncoso, Juan C; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Wilhelmsen, Kirk C; Williamson, Jennifer; Wingo, Thomas S; Woltjer, Randall L; Wright, Clinton B; Yu, Chang-En; Yu, Lei; Saba, Yasaman; Pilotto, Alberto; Bullido, Maria J; Peters, Oliver; Crane, Paul K; Bennett, David; Bosco, Paola; Coto, Eliecer; Boccardi, Virginia; De Jager, Phil L; Lleo, Alberto; Warner, Nick; Lopez, Oscar L; Ingelsson, Martin; Deloukas, Panagiotis; Cruchaga, Carlos; Graff, Caroline; Gwilliam, Rhian; Fornage, Myriam; Goate, Alison M; Sanchez-Juan, Pascual; Kehoe, Patrick G; Amin, Najaf; Ertekin-Taner, Nilifur; Berr, Claudine; Debette, Stéphanie; Love, Seth; Launer, Lenore J; Younkin, Steven G; Dartigues, Jean-Francois; Corcoran, Chris; Ikram, M Arfan; Dickson, Dennis W; Nicolas, Gael; Campion, Dominique; Tschanz, JoAnn; Schmidt, Helena; Hakonarson, Hakon; Clarimon, Jordi; Munger, Ron; Schmidt, Reinhold; Farrer, Lindsay A; Van Broeckhoven, Christine; O'Donovan, Michael C; DeStefano, Anita L; Jones, Lesley; Haines, Jonathan L; Deleuze, Jean-Francois; Owen, Michael J; Gudnason, Vilmundur; Mayeux, Richard; Escott-Price, Valentina; Psaty, Bruce M; Ramirez, Alfredo; Wang, Li-San; Ruiz, Agustin; van Duijn, Cornelia M; Holmans, Peter A; Seshadri, Sudha; Williams, Julie; Amouyel, Phillippe; Schellenberg, Gerard D; Lambert, Jean-Charles; Pericak-Vance, Margaret A
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
PMID: 31417202
ISSN: 1546-1718
CID: 4042762
A randomized clinical trial to evaluate home-based assessment of people over 75Â years old
Sano, Mary; Zhu, Carolyn W; Kaye, Jeffrey; Mundt, James C; Hayes, Tamara L; Ferris, Steven; Thomas, Ronald G; Sun, Chung-Kai; Jiang, Yanxin; Donohue, Michael C; Schneider, Lon S; Egelko, Susan; Aisen, Paul S; Feldman, Howard H
INTRODUCTION/BACKGROUND:There is an unmet need for effective methods for conducting dementia prevention trials. METHODS:Home-based assessment study compared feasibility and efficiency, ability to capture change over time using in-home instruments, and ability to predict cognitive conversion using predefined triggers in a randomized clinical trial in (1) mail-in questionnaire/live telephone interviews, (2) automated telephone/interactive voice recognition, and (3) internet-based computer Kiosk technologies. Primary endpoint was defined as cognitive conversion. RESULTS:Analysis followed a modified intent-to-treat principle. Dropout rates were low and similar across technologies but participants in Kiosk were more likely to dropout earlier. Staff resources needed were higher in Kiosk. In-home instruments distinguished conversion and stable groups. Cognitively stable group showed improvement in cognitive measures. Triggering was associated with higher likelihood of conversion but statistically significant only in mail-in questionnaire/live telephone interviews. DISCUSSION/CONCLUSIONS:Relatively low efficiency of internet-based assessment compared with testing by live-assessors has implications for internet-based recruitment and assessment efforts currently proposed for diverse populations.
PMID: 30872114
ISSN: 1552-5279
CID: 3733442
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Kunkle, Brian W; Grenier-Boley, Benjamin; Sims, Rebecca; Bis, Joshua C; Damotte, Vincent; Naj, Adam C; Boland, Anne; Vronskaya, Maria; van der Lee, Sven J; Amlie-Wolf, Alexandre; Bellenguez, Céline; Frizatti, Aura; Chouraki, Vincent; Martin, Eden R; Sleegers, Kristel; Badarinarayan, Nandini; Jakobsdottir, Johanna; Hamilton-Nelson, Kara L; Moreno-Grau, Sonia; Olaso, Robert; Raybould, Rachel; Chen, Yuning; Kuzma, Amanda B; Hiltunen, Mikko; Morgan, Taniesha; Ahmad, Shahzad; Vardarajan, Badri N; Epelbaum, Jacques; Hoffmann, Per; Boada, Merce; Beecham, Gary W; Garnier, Jean-Guillaume; Harold, Denise; Fitzpatrick, Annette L; Valladares, Otto; Moutet, Marie-Laure; Gerrish, Amy; Smith, Albert V; Qu, Liming; Bacq, Delphine; Denning, Nicola; Jian, Xueqiu; Zhao, Yi; Del Zompo, Maria; Fox, Nick C; Choi, Seung-Hoan; Mateo, Ignacio; Hughes, Joseph T; Adams, Hieab H; Malamon, John; Sanchez-Garcia, Florentino; Patel, Yogen; Brody, Jennifer A; Dombroski, Beth A; Naranjo, Maria Candida Deniz; Daniilidou, Makrina; Eiriksdottir, Gudny; Mukherjee, Shubhabrata; Wallon, David; Uphill, James; Aspelund, Thor; Cantwell, Laura B; Garzia, Fabienne; Galimberti, Daniela; Hofer, Edith; Butkiewicz, Mariusz; Fin, Bertrand; Scarpini, Elio; Sarnowski, Chloe; Bush, Will S; Meslage, Stéphane; Kornhuber, Johannes; White, Charles C; Song, Yuenjoo; Barber, Robert C; Engelborghs, Sebastiaan; Sordon, Sabrina; Voijnovic, Dina; Adams, Perrie M; Vandenberghe, Rik; Mayhaus, Manuel; Cupples, L Adrienne; Albert, Marilyn S; De Deyn, Peter P; Gu, Wei; Himali, Jayanadra J; Beekly, Duane; Squassina, Alessio; Hartmann, Annette M; Orellana, Adelina; Blacker, Deborah; Rodriguez-Rodriguez, Eloy; Lovestone, Simon; Garcia, Melissa E; Doody, Rachelle S; Munoz-Fernadez, Carmen; Sussams, Rebecca; Lin, Honghuang; Fairchild, Thomas J; Benito, Yolanda A; Holmes, Clive; Karamujić-ÄŒomić, Hata; Frosch, Matthew P; Thonberg, Hakan; Maier, Wolfgang; Roschupkin, Gena; Ghetti, Bernardino; Giedraitis, Vilmantas; Kawalia, Amit; Li, Shuo; Huebinger, Ryan M; Kilander, Lena; Moebus, Susanne; Hernández, Isabel; Kamboh, M Ilyas; Brundin, RoseMarie; Turton, James; Yang, Qiong; Katz, Mindy J; Concari, Letizia; Lord, Jenny; Beiser, Alexa S; Keene, C Dirk; Helisalmi, Seppo; Kloszewska, Iwona; Kukull, Walter A; Koivisto, Anne Maria; Lynch, Aoibhinn; Tarraga, LluÃs; Larson, Eric B; Haapasalo, Annakaisa; Lawlor, Brian; Mosley, Thomas H; Lipton, Richard B; Solfrizzi, Vincenzo; Gill, Michael; Longstreth, W T; Montine, Thomas J; Frisardi, Vincenza; Diez-Fairen, Monica; Rivadeneira, Fernando; Petersen, Ronald C; Deramecourt, Vincent; Alvarez, Ignacio; Salani, Francesca; Ciaramella, Antonio; Boerwinkle, Eric; Reiman, Eric M; Fievet, Nathalie; Rotter, Jerome I; Reisch, Joan S; Hanon, Olivier; Cupidi, Chiara; Andre Uitterlinden, A G; Royall, Donald R; Dufouil, Carole; Maletta, Raffaele Giovanni; de Rojas, Itziar; Sano, Mary; Brice, Alexis; Cecchetti, Roberta; George-Hyslop, Peter St; Ritchie, Karen; Tsolaki, Magda; Tsuang, Debby W; Dubois, Bruno; Craig, David; Wu, Chuang-Kuo; Soininen, Hilkka; Avramidou, Despoina; Albin, Roger L; Fratiglioni, Laura; Germanou, Antonia; Apostolova, Liana G; Keller, Lina; Koutroumani, Maria; Arnold, Steven E; Panza, Francesco; Gkatzima, Olymbia; Asthana, Sanjay; Hannequin, Didier; Whitehead, Patrice; Atwood, Craig S; Caffarra, Paolo; Hampel, Harald; Quintela, Inés; Carracedo, Ãngel; Lannfelt, Lars; Rubinsztein, David C; Barnes, Lisa L; Pasquier, Florence; Frölich, Lutz; Barral, Sandra; McGuinness, Bernadette; Beach, Thomas G; Johnston, Janet A; Becker, James T; Passmore, Peter; Bigio, Eileen H; Schott, Jonathan M; Bird, Thomas D; Warren, Jason D; Boeve, Bradley F; Lupton, Michelle K; Bowen, James D; Proitsi, Petra; Boxer, Adam; Powell, John F; Burke, James R; Kauwe, John S K; Burns, Jeffrey M; Mancuso, Michelangelo; Buxbaum, Joseph D; Bonuccelli, Ubaldo; Cairns, Nigel J; McQuillin, Andrew; Cao, Chuanhai; Livingston, Gill; Carlson, Chris S; Bass, Nicholas J; Carlsson, Cynthia M; Hardy, John; Carney, Regina M; Bras, Jose; Carrasquillo, Minerva M; Guerreiro, Rita; Allen, Mariet; Chui, Helena C; Fisher, Elizabeth; Masullo, Carlo; Crocco, Elizabeth A; DeCarli, Charles; Bisceglio, Gina; Dick, Malcolm; Ma, Li; Duara, Ranjan; Graff-Radford, Neill R; Evans, Denis A; Hodges, Angela; Faber, Kelley M; Scherer, Martin; Fallon, Kenneth B; Riemenschneider, Matthias; Fardo, David W; Heun, Reinhard; Farlow, Martin R; Kölsch, Heike; Ferris, Steven; Leber, Markus; Foroud, Tatiana M; Heuser, Isabella; Galasko, Douglas R; Giegling, Ina; Gearing, Marla; Hüll, Michael; Geschwind, Daniel H; Gilbert, John R; Morris, John; Green, Robert C; Mayo, Kevin; Growdon, John H; Feulner, Thomas; Hamilton, Ronald L; Harrell, Lindy E; Drichel, Dmitriy; Honig, Lawrence S; Cushion, Thomas D; Huentelman, Matthew J; Hollingworth, Paul; Hulette, Christine M; Hyman, Bradley T; Marshall, Rachel; Jarvik, Gail P; Meggy, Alun; Abner, Erin; Menzies, Georgina E; Jin, Lee-Way; Leonenko, Ganna; Real, Luis M; Jun, Gyungah R; Baldwin, Clinton T; Grozeva, Detelina; Karydas, Anna; Russo, Giancarlo; Kaye, Jeffrey A; Kim, Ronald; Jessen, Frank; Kowall, Neil W; Vellas, Bruno; Kramer, Joel H; Vardy, Emma; LaFerla, Frank M; Jöckel, Karl-Heinz; Lah, James J; Dichgans, Martin; Leverenz, James B; Mann, David; Levey, Allan I; Pickering-Brown, Stuart; Lieberman, Andrew P; Klopp, Norman; Lunetta, Kathryn L; Wichmann, H-Erich; Lyketsos, Constantine G; Morgan, Kevin; Marson, Daniel C; Brown, Kristelle; Martiniuk, Frank; Medway, Christopher; Mash, Deborah C; Nöthen, Markus M; Masliah, Eliezer; Hooper, Nigel M; McCormick, Wayne C; Daniele, Antonio; McCurry, Susan M; Bayer, Anthony; McDavid, Andrew N; Gallacher, John; McKee, Ann C; van den Bussche, Hendrik; Mesulam, Marsel; Brayne, Carol; Miller, Bruce L; Riedel-Heller, Steffi; Miller, Carol A; Miller, Joshua W; Al-Chalabi, Ammar; Morris, John C; Shaw, Christopher E; Myers, Amanda J; Wiltfang, Jens; O'Bryant, Sid; Olichney, John M; Alvarez, Victoria; Parisi, Joseph E; Singleton, Andrew B; Paulson, Henry L; Collinge, John; Perry, William R; Mead, Simon; Peskind, Elaine; Cribbs, David H; Rossor, Martin; Pierce, Aimee; Ryan, Natalie S; Poon, Wayne W; Nacmias, Benedetta; Potter, Huntington; Sorbi, Sandro; Quinn, Joseph F; Sacchinelli, Eleonora; Raj, Ashok; Spalletta, Gianfranco; Raskind, Murray; Caltagirone, Carlo; Bossù, Paola; Orfei, Maria Donata; Reisberg, Barry; Clarke, Robert; Reitz, Christiane; Smith, A David; Ringman, John M; Warden, Donald; Roberson, Erik D; Wilcock, Gordon; Rogaeva, Ekaterina; Bruni, Amalia Cecilia; Rosen, Howard J; Gallo, Maura; Rosenberg, Roger N; Ben-Shlomo, Yoav; Sager, Mark A; Mecocci, Patrizia; Saykin, Andrew J; Pastor, Pau; Cuccaro, Michael L; Vance, Jeffery M; Schneider, Julie A; Schneider, Lori S; Slifer, Susan; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Swerdlow, Russell H; Tang, Mitchell; Tanzi, Rudolph E; Trojanowski, John Q; Troncoso, Juan C; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Wilhelmsen, Kirk C; Williamson, Jennifer; Wingo, Thomas S; Woltjer, Randall L; Wright, Clinton B; Yu, Chang-En; Yu, Lei; Saba, Yasaman; Pilotto, Alberto; Bullido, Maria J; Peters, Oliver; Crane, Paul K; Bennett, David; Bosco, Paola; Coto, Eliecer; Boccardi, Virginia; De Jager, Phil L; Lleo, Alberto; Warner, Nick; Lopez, Oscar L; Ingelsson, Martin; Deloukas, Panagiotis; Cruchaga, Carlos; Graff, Caroline; Gwilliam, Rhian; Fornage, Myriam; Goate, Alison M; Sanchez-Juan, Pascual; Kehoe, Patrick G; Amin, Najaf; Ertekin-Taner, Nilifur; Berr, Claudine; Debette, Stéphanie; Love, Seth; Launer, Lenore J; Younkin, Steven G; Dartigues, Jean-Francois; Corcoran, Chris; Ikram, M Arfan; Dickson, Dennis W; Nicolas, Gael; Campion, Dominique; Tschanz, JoAnn; Schmidt, Helena; Hakonarson, Hakon; Clarimon, Jordi; Munger, Ron; Schmidt, Reinhold; Farrer, Lindsay A; Van Broeckhoven, Christine; C O'Donovan, Michael; DeStefano, Anita L; Jones, Lesley; Haines, Jonathan L; Deleuze, Jean-Francois; Owen, Michael J; Gudnason, Vilmundur; Mayeux, Richard; Escott-Price, Valentina; Psaty, Bruce M; Ramirez, Alfredo; Wang, Li-San; Ruiz, Agustin; van Duijn, Cornelia M; Holmans, Peter A; Seshadri, Sudha; Williams, Julie; Amouyel, Phillippe; Schellenberg, Gerard D; Lambert, Jean-Charles; Pericak-Vance, Margaret A
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer's or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P = 1.32 × 10-7), indicating that additional rare variants remain to be identified. We also identify important genetic correlations between LOAD and traits such as family history of dementia and education.
PMID: 30820047
ISSN: 1546-1718
CID: 3699012
CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease
Ma, Yiyi; Jun, Gyungah R.; Chung, Jaeyoon; Zhang, Xiaoling; Kunkle, Brian W.; Naj, Adam C.; White, Charles C.; Bennett, David A.; De Jager, Philip L.; Mayeux, Richard; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Farrer, Lindsay A.; Lunetta, Kathryn L.; Albert, Marilyn S.; Albin, Roger L.; Apostolova, Liana G.; Arnold, Steven E.; Asthana, Sanjay; Atwood, Craig S.; Baldwin, Clinton T.; Barmada, Michael M.; Barnes, Lisa L.; Beach, Thomas G.; Becker, James T.; Beekly, Duane; Benonett, David A.; Bigio, Eileen H.; Bird, Thomas D.; Blacker, Deborah; Boeve, Bradley F.; Bowen, James D.; Boxer, Adam; Burke, James R.; Buxbaum, Joseph; Cairns, Nigel J.; Cantwell, Laura B.; Cao, Chuanhai; Carlson, Chris S.; Carlsson, Cynthia M.; Carney, Regina M.; Carrasquillo, Minerva M.; Carroll, Steven L.; Chui, Helena C.; Clark; Crane, Paul; Cribbs, David H.; Crocco, Elizabeth A.; Cruchaga, Carlos; DeCarli, Charles; Demirci, F. Yesim; De Jager, Philip; Dick, Malcolm; Dickson, Dennis; Duara, Ranjan; Ertekin-Taner, Nilufer; Faber, Kelley M.; Fallon, Kenneth B.; Farlow, Martin R.; Ferris, Steven; Foroud, Tatiana M.; Frosch, Matthew; Galasko, Douglas R.; Gearing, Marla; Geschwind, Daniel H.; Ghetti, Bernardino; Gilbert, John; Glass, Jonathan D.; Goate, Alison M.; Graff-Radford, Neill R.; Green, Robert C.; Growdon, John H.; Hakonarson, Hakon; Hamilton, Ronald L.; Hamilton-Nelson, Kara L.; Hardy, John; Harrell, Lindy E.; Head, Elizabeth; Honig, Lawrence S.; Huentelman, Matthew J.; Hulette, Christine M.; Hyman, Bradley; Jarvik, Gail P.; Jicha, Gregory A.; Jin, Lee-Way; Jun, Gyungah; Kamboh, M. Ilyas; Karydas, Anna; Kauwe, John S. K.; Kaye, Jeffrey A.; Kim, Ronald; Kowall, Neil W.; Kramer, Joel H.; Kramer, Patricia; Kukull, Walter; Kunkle, Brian W.; LaFerla, Frank M.; Lah, James J.; Larson, Eric; Leverenz, James B.; Levey, Allan I.; Li, Ge; Lieberman, Andrew P.; Lin, Chiao-Feng; Lopez, Oscar L.; Lunetta, Kathryn L.; Lyketsos, Constantine G.; Mack, Wendy J.; Marson, Daniel C.; Martin, Eden R.; Martiniuk, Frank; Mash, Deborah; Masliah, Eliezer; McCormick, Wayne C.; McCurry, Susan M.; McDavid, Andrew N.; Mckee, Ann C.; Mesulam, Marsel; Miller, Bruce L.; Miller, Carol A.; Miller, Joshua W.; Morris, John C.; Mukherjee, Shubhabrata; Murrell, Jill R.; Myers, Amanda J.; Naj, Adam C.; Olichney, John M.; Pankratz, Vernon S.; Parisi, Joseph E.; Partch, Amanda; Paulson, Henry L.; Perry, William; Peskind, Elaine; Petersen, Ronald C.; Pierce, Aimee; Poon, Wayne W.; Potter, Huntington; Quinn, Joseph F.; Raj, Ashok; Raskind, Murray; Reiman, Eric; Reisberg, Barry; Reitz, Christiane; Ringman, John M.; Roberson, Erik D.; Rogaeva, Ekaterina; Rosen, Howard J.; Rosenberg, Roger N.; Sager, Mark A.; Sano, Mary; Saykin, Andrew J.; Schneider, Julie; Schneider, Lon S.; Seeley, William W.; Smith, Amanda G.; Sonnen, Joshua A.; Spina, Salvatore; Hyslop, Peter St George; Stern, Robert A.; Tanzi, Rudolph E.; Thornton-Wells, Tricia A.; Trojanowski, John; Troncoso, Juan C.; Tsuang, Debby W.; Valladares, Otto; Van Deerlin, Vivianna M.; Van Eldik, Linda J.; Vardarajan, Badri N.; Vinters, Harry V.; Vonsattel, Jean-Paul; Wang, Li-San; Weintraub, Sandra; Welsh-Bohmer, Kathleen A.; Williamson, Jennifer; Wishnek, Sarah; Woltjer, Randall L.; Wright, Clinton B.; Younkin, Steven; Yu, Chang-En; Yu, Lei
ISI:000476767500015
ISSN: 1474-9718
CID: 4028452
Participant satisfaction with dementia prevention research: Results from Home-Based Assessment trial
Sano, Mary; Egelko, Susan; Zhu, Carolyn W; Li, Clara; Donohue, Michael C; Ferris, Steven; Kaye, Jeffrey; Mundt, James C; Sun, Chung-Kai; Aisen, Paul S; Feldman, Howard H
INTRODUCTION/BACKGROUND:Little is known about factors affecting motivation and satisfaction of participants in dementia prevention trials. METHODS:A Research Satisfaction Survey was administered to 422 nondemented older adults who participated in the Home-Based Assessment trial. RESULTS:Overall satisfaction was high, with means of all individual items near to above a value of 3 on a scale from 1 (worst) to 4 (best). Greater satisfaction was associated with staff-administered interviews versus automated technologies. The most liked aspects of research participation were volunteerism, opportunity to challenge and improve mental function, and positive interactions with staff. The least liked aspect was repetitiveness of the assessments. Participants requested more contact with staff and other older adults and more feedback on performance. DISCUSSION/CONCLUSIONS:Older adults' participation in research was primarily motivated by altruism. Methodologies that facilitate human contact, encourage feedback and novelty of tasks should be incorporated into future trial design.
PMID: 30297140
ISSN: 1552-5279
CID: 3334872
Version 3 of the Alzheimer Disease Centers' Neuropsychological Test Battery in the Uniform Data Set (UDS)
Weintraub, Sandra; Besser, Lilah; Dodge, Hiroko H; Teylan, Merilee; Ferris, Steven; Goldstein, Felicia C; Giordani, Bruno; Kramer, Joel; Loewenstein, David; Marson, Dan; Mungas, Dan; Salmon, David; Welsh-Bohmer, Kathleen; Zhou, Xiao-Hua; Shirk, Steven D; Atri, Alireza; Kukull, Walter A; Phelps, Creighton; Morris, John C
INTRODUCTION/BACKGROUND:The neuropsychological battery of the Uniform Data Set (UDSNB) was implemented in 2005 by the National Institute on Aging (NIA) Alzheimer Disease Centers program to measure cognitive performance in dementia and mild cognitive impairment due to Alzheimer Disease. This paper describes a revision, the UDSNB 3.0. METHODS:The Neuropsychology Work Group of the NIA Clinical Task Force recommended revisions through a process of due diligence to address shortcomings of the original battery. The UDSNB 3.0 covers episodic memory, processing speed, executive function, language, and constructional ability. Data from 3602 cognitively normal participants in the National Alzheimer Coordinating Center database were analyzed. RESULTS:Descriptive statistics are presented. Multivariable linear regression analyses demonstrated score differences by age, sex, and education and were also used to create a normative calculator available online. DISCUSSION/CONCLUSIONS:The UDSNB 3.0 neuropsychological battery provides a valuable non proprietary resource for conducting research on cognitive aging and dementia.
PMCID:5821520
PMID: 29240561
ISSN: 1546-4156
CID: 2979122
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Sims, Rebecca; van der Lee, Sven J; Naj, Adam C; Bellenguez, Celine; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W; Boland, Anne; Raybould, Rachel; Bis, Joshua C; Martin, Eden R; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R; Olaso, Robert; Hoffmann, Per; Grove, Megan L; Vardarajan, Badri N; Hiltunen, Mikko; Nothen, Markus M; White, Charles C; Hamilton-Nelson, Kara L; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W; Dulary, Cecile; Herms, Stefan; Smith, Albert V; Funk, Cory C; Derbois, Celine; Forstner, Andreas J; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A; Qu, Liming; Sanchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J; Zhao, Yi; Garcia, Florentino Sanchez; Denning, Nicola; Fornage, Myriam; Malamon, John; Naranjo, Maria Candida Deniz; Majounie, Elisa; Mosley, Thomas H; Dombroski, Beth; Wallon, David; Lupton, Michelle K; Dupuis, Josee; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L Adrienne; Price, Nathan D; Hannequin, Didier; Frank-Garcia, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S; Giedraitis, Vilmantas; Hampel, Harald; Garcia, Melissa E; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K; Pasquier, Florence; Boccardi, Virginia; Henandez, Isabel; Barber, Robert C; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M; Leber, Markus; Chen, Yuning; Albert, Marilyn S; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S; Spalletta, Gianfranco; Jr, W T Longstreth; Fairchild, Thomas J; Bossu, Paola; Lopez, Oscar L; Frosch, Matthew P; Sacchinelli, Eleonora; Ghetti, Bernardino; Yang, Qiong; Huebinger, Ryan M; Jessen, Frank; Li, Shuo; Kamboh, M Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J; Corcoran, Chris; Dunstan, Melanie; Braddel, Amy; Thomas, Charlene; Meggy, Alun; Marshall, Rachel; Gerrish, Amy; Chapman, Jade; Aguilar, Miquel; Taylor, Sarah; Hill, Matt; Fairen, Monica Diez; Hodges, Angela; Vellas, Bruno; Soininen, Hilkka; Kloszewska, Iwona; Daniilidou, Makrina; Uphill, James; Patel, Yogen; Hughes, Joseph T; Lord, Jenny; Turton, James; Hartmann, Annette M; Cecchetti, Roberta; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Caltagirone, Carlo; Orfei, Maria Donata; Ciaramella, Antonio; Pichler, Sabrina; Mayhaus, Manuel; Gu, Wei; Lleo, Alberto; Fortea, Juan; Blesa, Rafael; Barber, Imelda S; Brookes, Keeley; Cupidi, Chiara; Maletta, Raffaele Giovanni; Carrell, David; Sorbi, Sandro; Moebus, Susanne; Urbano, Maria; Pilotto, Alberto; Kornhuber, Johannes; Bosco, Paolo; Todd, Stephen; Craig, David; Johnston, Janet; Gill, Michael; Lawlor, Brian; Lynch, Aoibhinn; Fox, Nick C; Hardy, John; Albin, Roger L; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Baldwin, Clinton T; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Bigio, Eileen H; Bird, Thomas D; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cao, Chuanhai; Carlson, Chris S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Carroll, Steven L; Diaz, Carolina Ceballos; Chui, Helena C; Clark, David G; Cribbs, David H; Crocco, Elizabeth A; DeCarli, Charles; Dick, Malcolm; Duara, Ranjan; Evans, Denis A; Faber, Kelley M; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Ferris, Steven; Foroud, Tatiana M; Galasko, Douglas R; Gearing, Marla; Geschwind, Daniel H; Gilbert, John R; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hamilton, Ronald L; Harrell, Lindy E; Honig, Lawrence S; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Jarvik, Gail P; Abner, Erin; Jin, Lee-Way; Jun, Gyungah; Karydas, Anna; Kaye, Jeffrey A; Kim, Ronald; Kowall, Neil W; Kramer, Joel H; LaFerla, Frank M; Lah, James J; Leverenz, James B; Levey, Allan I; Li, Ge; Lieberman, Andrew P; Lunetta, Kathryn L; Lyketsos, Constantine G; Marson, Daniel C; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Morris, John C; Murrell, Jill R; Myers, Amanda J; O'Bryant, Sid; Olichney, John M; Pankratz, Vernon S; Parisi, Joseph E; Paulson, Henry L; Perry, William; Peskind, Elaine; Pierce, Aimee; Poon, Wayne W; Potter, Huntington; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reisberg, Barry; Reitz, Christiane; Ringman, John M; Roberson, Erik D; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Sager, Mark A; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Swerdlow, Russell H; Tanzi, Rudolph E; Thornton-Wells, Tricia A; Trojanowski, John Q; Troncoso, Juan C; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Wilhelmsen, Kirk C; Williamson, Jennifer; Wingo, Thomas S; Woltjer, Randall L; Wright, Clinton B; Yu, Chang-En; Yu, Lei; Garzia, Fabienne; Golamaully, Feroze; Septier, Gislain; Engelborghs, Sebastien; Vandenberghe, Rik; De Deyn, Peter P; Fernadez, Carmen Munoz; Benito, Yoland Aladro; Thonberg, Hakan; Forsell, Charlotte; Lilius, Lena; Kinhult-Stahlbom, Anne; Kilander, Lena; Brundin, RoseMarie; Concari, Letizia; Helisalmi, Seppo; Koivisto, Anne Maria; Haapasalo, Annakaisa; Dermecourt, Vincent; Fievet, Nathalie; Hanon, Olivier; Dufouil, Carole; Brice, Alexis; Ritchie, Karen; Dubois, Bruno; Himali, Jayanadra J; Keene, C Dirk; Tschanz, JoAnn; Fitzpatrick, Annette L; Kukull, Walter A; Norton, Maria; Aspelund, Thor; Larson, Eric B; Munger, Ron; Rotter, Jerome I; Lipton, Richard B; Bullido, Maria J; Hofman, Albert; Montine, Thomas J; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M; Gallo, Maura; O'Donnell, Christopher J; Reisch, Joan S; Bruni, Amalia Cecilia; Royall, Donald R; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C; Bras, Jose; Guerreiro, Rita; Al-Chalabi, Ammar; Shaw, Christopher E; Collinge, John; Mann, David; Tsolaki, Magda; Clarimon, Jordi; Sussams, Rebecca; Lovestone, Simon; O'Donovan, Michael C; Owen, Michael J; Behrens, Timothy W; Mead, Simon; Goate, Alison M; Uitterlinden, Andre G; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A; Powell, John; Golde, Todd E; Graff, Caroline; De Jager, Philip L; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M; Passmore, Peter; Younkin, Steven G; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W; Dartigues, Jean-Francois; DeStefano, Anita L; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John Keoni; Farrer, Lindsay A; Van Broeckhoven, Christine; Ikram, M Arfan; Jones, Lesley; Haines, Jonathan L; Tzourio, Christophe; Launer, Lenore J; Escott-Price, Valentina; Mayeux, Richard; Deleuze, Jean-Francois; Amin, Najaf; Holmans, Peter A; Pericak-Vance, Margaret A; Amouyel, Philippe; van Duijn, Cornelia M; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 x 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 x 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 x 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 x 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 x 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
PMCID:5669039
PMID: 28714976
ISSN: 1546-1718
CID: 2640222
The Utility of the Cognitive Function Instrument (CFI) to Detect Cognitive Decline in Non-Demented Older Adults
Li, Clara; Neugroschl, Judith; Luo, Xiaodong; Zhu, Carolyn; Aisen, Paul; Ferris, Steven; Sano, Mary
BACKGROUND: Subjective cognitive complaint is a sensitive marker of decline. OBJECTIVE: This study aimed to (1) examine reliability of subjective cognitive complaint using the Cognitive Function Instrument (CFI), and (2) assess the utility of the CFI to detect cognitive decline in non-demented elders. METHODS: Data from a four-year longitudinal study at multiple Alzheimer's Disease Cooperative Study (ADCS) sites were extracted (n = 644). Of these, 497 had Clinical Dementia Rating (CDR) global scores of 0 and 147 had a CDR of 0.5. Mean age and education were 79.5+/-3.6 and 15.0+/-3.1 years, respectively. All participants and their study partners completed the subject and study partner CFI yearly. Modified Mini-Mental State Exam (mMMSE) and Free and Cued Selective Reminding Test (FCSRT) were administered. Scores below the predetermined cut-off scores on either measure at annual visit were triggers for a full diagnostic evaluation. Cognitive decline was defined by the absence/presence of the trigger. RESULTS: Three-month test retest reliability showed that inter-class coefficients for subject and study partner CFI were 0.76 and 0.78, respectively. Generalized estimating equation method revealed that both subject and study partner CFI change scores and scores from previous year were sensitive to cognitive decline in the CDR 0 group (p < 0.05). In the CDR 0.5 group, only the study partner CFI change score predicted cognitive decline (p < 0.05). CONCLUSION: Cognitive decline was predicted differentially by CDR level with subject CFI scores providing the best prediction for those with CDR 0 while study partner CFI predicted best for those at CDR 0.5.
PMID: 28854503
ISSN: 1875-8908
CID: 2679782
Cognitive Efficacy (SIB) of 13.3 Versus 4.6 mg/24 h Rivastigmine Patch in Severe Alzheimer's Disease
Isaacson, Richard S; Ferris, Steven; Velting, Drew M; Meng, Xiangyi
Severe Impairment Battery (SIB) data from the 24-week, randomized, double-blind ACTivities of daily living and cognitION (ACTION) study suggest that patients with severe Alzheimer's disease (AD) benefit from treatment with 13.3 versus 4.6 mg/24 h rivastigmine patch. The objective of this retrospective analysis was to further examine the cognitive efficacy of 13.3 versus 4.6 mg/24 h rivastigmine patch on individual SIB items, and SIB domains derived using factor analysis of these items. Change from baseline at Week 24 on 9 new factor-defined domains and individual items was calculated and compared using effect sizes (Cohen's d). Numerically less decline was observed with 13.3 versus 4.6 mg/24 h patch on all domains and the majority of individual items. Largest least squares mean treatment differences were observed on "visuospatial reasoning," "object naming," "recognition," "design copying," "social agency," "ideational praxis," and "comprehension" domains. These findings suggest 13.3 mg/24 h rivastigmine patch demonstrates broad cognitive efficacy across a range of SIB items and domains in patients with severe AD.
PMID: 26371345
ISSN: 1938-2731
CID: 1779192
