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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
Correspondence to: Phase 2a randomized clinical trial of dupilumab (anti-IL-4Rα) for alopecia areata patients [Letter]
Maher, Eamonn; Martiniuk, Frank; Levis, William
PMID: 35218045
ISSN: 1398-9995
CID: 5172602
In Vitro Clonal Priming Data Suggests Mechanism for Lower Initial Vaccine Dose Yielding Increased Immunity in Astra-Zeneca Vaccine Trial
Dattner, Alan M; Martiniuk, Frank; Levis, William R
PMID: 33852236
ISSN: 1545-9616
CID: 5178012
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
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
Increasing Virulence in Leprosy Indicated by Global Mycobacterium spp [Letter]
Levis, William; Rendini, Tina; Martiniuk, Frank
PMCID:5749468
PMID: 29260683
ISSN: 1080-6059
CID: 2891142
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
Leprosy as a model to understand cancer immunosurveillance and T cell anergy
Park, Andrew J; Rendini, Tina; Martiniuk, Frank; Levis, William R
Leprosy is a disease caused by Mycobacterium leprae that presents on a spectrum of both clinical manifestations and T cell response. On one end of this spectrum, tuberculoid leprosy is a well-controlled disease, characterized by a cell-mediated immunity and immunosurveillance. On the opposite end of the spectrum, lepromatous leprosy is characterized by M. leprae proliferation and T cell anergy. Similar to progressive tumor cells, M. leprae escapes immunosurveillance in more severe forms of leprosy. The mechanisms by which M. leprae is able to evade the host immune response involve many, including the alterations of lipid droplets, microRNA, and Schwann cells, and involve the regulation of immune regulators, such as the negative checkpoint regulators CTLA-4, programmed death 1, and V-domain Ig suppressor of T cell activation-important targets in today's cancer immunotherapies. The means by which tumor cells become able to escape immunosurveillance through negative checkpoint regulators are evidenced by the successes of treatments, such as nivolumab and ipilimumab. Many parallels can be drawn between the immune responses seen in leprosy and cancer. Therefore, the understanding of how M. leprae encourages immune escape during proliferative disease states has potential to add to our understanding of cancer immunotherapy.
PMID: 27106673
ISSN: 1938-3673
CID: 2175602
Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States
Wang, Li-San; Naj, Adam C; Graham, Robert R; Crane, Paul K; Kunkle, Brian W; Cruchaga, Carlos; Murcia, Josue D Gonzalez; Cannon-Albright, Lisa; Baldwin, Clinton T; Zetterberg, Henrik; Blennow, Kaj; Kukull, Walter A; Faber, Kelley M; Schupf, Nicole; Norton, Maria C; Tschanz, JoAnn T; Munger, Ronald G; Corcoran, Christopher D; Rogaeva, Ekaterina; Lin, Chiao-Feng; Dombroski, Beth A; Cantwell, Laura B; Partch, Amanda; Valladares, Otto; Hakonarson, Hakon; St George-Hyslop, Peter; Green, Robert C; Goate, Alison M; Foroud, Tatiana M; Carney, Regina M; Larson, Eric B; Behrens, Timothy W; Kauwe, John S K; Haines, Jonathan L; Farrer, Lindsay A; Pericak-Vance, Margaret A; Mayeux, Richard; Schellenberg, Gerard D; Albert, Marilyn S; Albin, Roger L; Apostolova, Liana G; Arnold, Steven E; Barber, Robert; Barmada, M Michael; Barnes, Lisa L; Beach, Thomas G; Becker, James T; Beecham, Gary W; Beekly, Duane; Bennett, David A; Bigio, Eileen H; Bird, Thomas D; Blacker, Deborah; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Burke, James R; Buxbaum, Joseph D; Cairns, Nigel J; Cao, Chuanhai; Carlson, Chris S; Carroll, Steven L; Chui, Helena C; Clark, David G; Cribbs, David H; Crocco, Elizabeth A; DeCarli, Charles; DeKosky, Steven T; Demirci, F Yesim; Dick, Malcolm; Dickson, Dennis W; Duara, Ranjan; Ertekin-Taner, Nilufer; Fallon, Kenneth B; Farlow, Martin R; Ferris, Steven; Frosch, Matthew P; Galasko, Douglas R; Ganguli, Mary; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Glass, Jonathan D; Graff-Radford, Neill R; Growdon, John H; Hamilton, Ronald L; Hamilton-Nelson, Kara L; Harrell, Lindy E; Head, Elizabeth; Honig, Lawrence S; Hulette, Christine M; Hyman, Bradley T; Jarvik, Gail P; Jicha, Gregory A; Jin, Lee-Way; Jun, Gyungah; Kamboh, M Ilyas; Karydas, Anna; Kaye, Jeffrey A; Kim, Ronald; Koo, Edward H; Kowall, Neil W; Kramer, Joel H; Kramer, Patricia; LaFerla, Frank M; Lah, James J; Leverenz, James B; Levey, Allan I; Li, Ge; Lieberman, Andrew P; Lopez, Oscar L; Lunetta, Kathryn L; Lyketsos, Constantine G; Mack, Wendy J; Marson, Daniel C; Martin, Eden R; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McKee, Ann C; Mesulam, M Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Montine, Thomas J; Morris, John C; Murrell, Jill R; Olichney, John M; Parisi, Joseph E; Perry, William; Peskind, Elaine; Petersen, Ronald C; Pierce, Aimee; Poon, Wayne W; Potter, Huntington; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reiman, Eric M; Reisberg, Barry; Reitz, Christiane; Ringman, John M; Roberson, Erik D; Rosen, Howard J; Rosenberg, Roger N; Sano, Mary; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Smith, Amanda G; Sonnen, Joshua A; Spina, Salvatore; Stern, Robert A; Tanzi, Rudolph E; Thornton-Wells, Tricia A; Trojanowski, John Q; Troncoso, Juan C; Tsuang, Debby W; Van Deerlin, Vivianna M; Van Eldik, Linda J; Vardarajan, Badri N; Vinters, Harry V; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Williamson, Jennifer; Wishnek, Sarah; Woltjer, Randall L; Wright, Clinton B; Younkin, Steven G; Yu, Chang-En; Yu, Lei
Importance: Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States. Objective: To determine the frequency of the APP A673T variant in a large group of elderly cognitively normal controls and AD cases from the United States and in 2 case-control cohorts from Sweden. Design, Setting, and Participants: Case-control association analysis of variant APP A673T in US and Swedish white individuals comparing AD cases with cognitively intact elderly controls. Participants were ascertained at multiple university-associated medical centers and clinics across the United States and Sweden by study-specific sampling methods. They were from case-control studies, community-based prospective cohort studies, and studies that ascertained multiplex families from multiple sources. Main Outcomes and Measures: Genotypes for the APP A673T variant were determined using the Infinium HumanExome V1 Beadchip (Illumina, Inc) and by TaqMan genotyping (Life Technologies). Results: The A673T variant genotypes were evaluated in 8943 US AD cases, 10 480 US cognitively normal controls, 862 Swedish AD cases, and 707 Swedish cognitively normal controls. We identified 3 US individuals heterozygous for A673T, including 1 AD case (age at onset, 89 years) and 2 controls (age at last examination, 82 and 77 years). The remaining US samples were homozygous for the alanine (A673) allele. In the Swedish samples, 3 controls were heterozygous for A673T and all AD cases were homozygous for the A673 allele. We also genotyped a US family previously reported to harbor the A673T variant and found a mother-daughter pair, both cognitively normal at ages 72 and 84 years, respectively, who were both heterozygous for A673T; however, all individuals with AD in the family were homozygous for A673. Conclusions and Relevance: The A673T variant is extremely rare in US cohorts and does not play a substantial role in risk for AD in this population. This variant may be primarily restricted to Icelandic and Scandinavian populations.
PMCID:4324097
PMID: 25531812
ISSN: 2168-6149
CID: 1416202
