Citations 6
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
Guen, Yann Le , Luo, Guo , Damotte, Vincent , Jansen, Iris E. , Nicolas, Aude , Rojas, Itziar de, Bellenguez, Céline , Lian, Michelle Mulan , Parveen, Kayenat, Morizono, Takashi, Park, Hyeonseul, Grenier‐Boley, Benjamin , Naito, Tatsuhiko , Talyansky, Seth D., Yogeshwar, Selina , Sempere, Vicente Peris, Satake, Wataru , Álvarez, Victoria , Arosio, Beatrice , Boland, Anne , Daniele, Antonio , Darling, D.H., Dichgans, Martin , Dufouil, Carole , Düzel, Emrah , García‐Ribas, Guillermo, García‐Alberca, José María , García-González, Pablo, Giedraitis, Vilmantas , Graff, Caroline , Grünblatt, Edna , Hausner, Lucrezia , Jung, Yoo Jin , Deckert, Jürgen, Kern, Silke , Kuulasmaa, Teemu , Lee, Kun Ho , Lin, Ling , Masullo, Carlo , Mehrabian, Shima , Mendonça, Alexandre de , Boada, Merçé , Mir, Pablo , Moreno, Fermín , Nicolas, Gaël , Niida, Shumpei , Nordestgaard, Børge G. , Papenberg, Goran, Papma, Janne M., Pástor, Pau , Peters, Oliver , Popp, Julius , Molina‐Porcel, Laura , Puerta, Raquel , Pérez‐Tur, Jordi , Ramakers, Inez H.G.B. , Real, Luís Miguel , Riedel‐Heller, Steffi G. , Rodríguez‐Rodríguez, Eloy , Ross, Owen A. , Scarmeas, Nikolaos , Schneider, Anja , Solfrizzi, Vincenzo , Spalletta, Gianfranco , Tan, Eng‐King , Tegos, Thomas, Thomassen, Jesper Qvist , Tremolizzo, Lucio , Verhey, Frans, EADB, group, GR@ACE study, DemGene, EADI, GERAD, Blennow, Kaj , He, Zihuai , Jessen, Frank , Kehoe, Patrick G. , Duin, Cornelia van, Sánchez‐Juan, Pascual , Zettergren, Anna , Okada, Yukinori , Rossi, Giacomina, Gim, Jungsoo , Sims, Rebecca, Ramı́rez, Alfredo , Lambert, Jean‐Charles , Greicius, Michael D. , Mignot, Emmanuel , Moreno–Grau, Sonia , Rojas, Itziar de, Prokic, Ivana, Aarsland, Dag, García‐González, Pablo , Abdelnour, Carla , Armstrong, Nicola J. , Anthoula, Tsolaki, Archetti, Silvana, Pastor, Alfonso Arias, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa , Baquero, Miquel , Pastor, Ana Belén , Besse, Céline , Bizarro, Alessandra, Blesa, Rafael , Bossù, Paola , Brusco, Luis Ignacio , Buiza‐Rueda, Dolores, Bürger, Katharina , Burholt, Vanessa, Cecchetti, Roberta, Chillotti, Caterina , Ciccone, Simona, Claassen, Jurgen A.H.R., Clark, Christopher , Costantini, Emanuele Maria , Daian, Delphine , Dartigues, Jean‐François, Escott-Price, Valentina, Ewers, Michael , Fernández‐Fuertes, Marta , Ferreira, Catarina B. , Fin, Bertrand, Fließbach, Klaus , Franco-Macías, Emlio, García-González, Pablo, García‐Madrona, Sebastián, Giegling, Ina, Giorgio, Giaccone, González-Pérez, Antonio, Grande, Giulia , Green, Emma , Grimmer, Timo, Hardy, John, Hartmann, Annette M. , Harwood, Janet , Helisalmi, Seppo , Hernández, Isabel, Hoffmann, Per, Vilas, Raquel Huerto, Hulsman, Marc , Johansson, Charlotte , Kilander, Lena, Ståhlbom, Anne Kinhult, Koivisto, Anne M. , Lage, Carmen , Lerch, Ondřej , Munain, Adolfo Lopez de, Löwemark, Malin, Luckcuck, Lauren, Maier, Wolfgang, Marco, Spallazzi, Montes, Ángel Martín, Rodríguez, Carmen Martínez, Meggy, Alun, Mendoza, Silvia, Moebus, Susanne, Morelli, Laura , Möthen, Markus M., Muchnik, Carolina , Orsini, Michela, Péricard, Pierre , Piñol-Ripoll, Gerard, Polak, Thomas, Quenez, Olivier , Rábano, Alberto , Ramakers, Inez, Riederer, Peter, Rongve, Arvid, Allende, Irene Rosas, Rujescu, Dan, Sakka, Paraskevi , Sánchez‐Arjona, María Bernal, Sando, Sigrid Botne , Scamosci, Michela, Scherbaum, Norbert, Scherer, Martin, Schott, Jonathan M., Shadrin, Alexey A, Skrobot, Olivia Anna, Solfrizzi, Vincenzo, Spottke, Annika , Stordal, Eystein , Tartan, Juan Pablo, Traykov, Latchezar , Tybjærg‐Hansen, Anne, Ullgren, Abbe, Ulstein, Ingun, Dongen, Jasper Van , Wallon, David, Windle, Gill, Woods, Bob , Zulaica, Miren , Laczó, Jan , Maťoška, Václav , Piras, Federica, Ciullo, Valentina , Shofany, Jacob, Andreoni, Simona, Zompo, Maria Del, Bastiani, Patrizia, Natunen, Teemu , Antikaínen, Riitta , Abraham, Richard, Al-Chalabi, Ammar, Brayne, Carol, Brown, Kristelle S., Collinge, John, Craig, David W. , Deloukas, Pangiotis, Gerrish, Amy, Gwilliam, Rhian, Hardy, John , Hollingworth, Paul, Johnston, Jarret A., Jones, Lesley , Lawlor, Brian, Lynch, Aoibhinn, McQuillin, Andrew, Owen, Michael J., Passmore, Peter , Proitsi, Petra, Rossor, Martin, Gurling, Hugh, Todd, Stephen, Mummery, Catherine J. , Ryan, Nathalie, Lacidogna, Giordano , Adarmes-Gómez, Ad, Mauleón, Ana , Pancho, Ana, Gailhajenet, A., Lafuente, Asunción, Martín, Elvira, Pelejà, Esther, Carrillo, F, Merlín, Isabel Sastre, Garrote-Espina, L. , Carrión‐Claro, Mario, Marín, María Esmeralda Arreola , Labrador, Ma, Buendía, Mar, Guitart, Marina, Moreno, Mariona, Ibarria, Marta, Periñán, Mt, Aguilera, Núria , Gómez-Garre, P, Escuela, R, Pineda-Sanchez, R., Vigo-Ortega, R, Preckler, Sílvia , Rodrigo‐Herrero, Silvia , Diego, Susana, Salvadori, Nicola, Chipi, Elena , Laske, Christoph , Janowitz, Daniel , Anastasiou, Anna, Parveen, Kayenat, López‐García, Sara , Antonell, Anna , Belezhanska, Diyana , Solís, Patricia , Medel, Nancy , Lisso, Julieta, Sevillano, Zulma, Politis, Daniel Gustavo , Cores, Valeria, Cuesta, Carolina , Ortíz, Cecilia, Bacha, Juan Ignacio, Rios, Mario, Saenz, Aldo, Abalos, Mariana Sanchez, Köhler, Eduardo, Palacio, Dana Lis, Etchepareborda, Ignacio, Prestia, Federico Ariel, Galeano, Pablo , Castaño, Eduardo M., Germani, Sandra, Toso, Carlos Reyes, Rojo, Matias, Ingino, Carlos A. , Mangone, Carlos A., Engelborghs, Sebastiaan , Nielsen, Sune Fallgaard, Farotti, Lucia , Biessels, Geert Jan , Fiévet, Nathalie, Forsell, Charlotte , Thonberg, Håkan, Bjerke, Maria , Roeck, Ellen De , Olivar, Natividad , Sachdev, Perminder S. , Magda, Tsolaki, Rossi, Giacomina, Andreassen, Ole A., Sims, Rebecca , Aguilera, N., Alarcón, Estefanía Burgos, Buendia, Marie‐Annick , Rojas, Itziar de , Diego, S. , Guitart, M., González-Péerez, A, Lafuente, A., Martin, Elisabeth , Martinez, M.T.M., Marquié, M, Olivé, C. , Pelejà, E., Puerta, R, Sáez, ME, Táarraga, L, Valero, S, Alonso, MD, Amer-Ferrer, G., Antequera, M., Antúnez, Carmen , Bernal, M. , Bullido, MJ, Ja, Burguera, Carrillo, F, Casajeros, MJ, Cruz-Gamero, JM, Escuela, R, Franco, Emilio, García-Alberca, JM, Madrona, S. García, Gómez-Garre, P, Hevilla, S., Espinosa, MA Labrador, Legaz, A. , Lleóo, A, Munáin, A Lóopez de, Marín-Muñoz, Juan, Marín, T, Marquié, M, Martínez, B. , Álvarez, A Martínez-Lage, Iriarte, M Mendioroz, Tur, J Péerez, Ripoll, G. Piñol, Ráabano, A, Asúa, Diego Real de , Rodrigo, S., Royo, JL, Díaz, R. Sanchez del Valle, Sánchez‐Juan, Pascual, Sastre, Isabel , Valero, S, Vicente, MP, Vigo-Ortega, R, Shadrin, Alexey A, Rongve, Arvid, Bosnes, Ingunn , Athanasiu, Lavinia, Aarsland, Dag, Andreassen, Ole A., Epelbaum, Jacques, Wallon, David, Hannequin, Didier , Campion, Dominique , Dermecourt, Vincent, Dubois, Bruno , Amouyel, Phillippe, Sims, Rebecca, Gerrish, Amy, Thomas, Charlene , Meggy, Alun, Davies, Chloe, Dowzell, Kimberley, Bernardo-Harrington, Mateus, Hoffmann, Per, Brown, Kristelle, Schott, Jonathan M., Rossor, Martin, Ryan, Natalie S. , Uphill, James, Al-Chalabi, Ammar, Bass, Nick, Abraham, Richard, Kölsch, Heike, Schürmann, Britta, Lacour, ndré, Herold, Christine, Johnston, Janet, Todd, Stephen, Proitsi, Petra, Patel, Yogen, Warden, Donald, Wilcock, Gordon , Clarke, Robert , Lawlor, Brian, McQuillin, Andrew, Hardy, John, Brayne, Carol, Deloukas, Panagiotis, Sussams, Rebecca, Warner, Nick, Bayer, Anthony, Singleton, Andrew, Rujescu, Dan, Giegling, Ina, Klopp, Norman, Mayhaus, Manuel, Riemenschneider, Matthias, Pinchler, Sabrina, Feulner, Thomas, Bussche, Hendrik den, Scherer, Martin, Hüll, Michael, Frölich, Lutz, Wichmann, H‐Erich, Jöckel, Karl‐Heinz , Moebus, Susanne, Kauwe, John, Mayo, Kevin H. , Escott-Price, Valentina, Peng, Rong , Tan, Louis, Tandiono, Moses , Ng, Ebonne, Prakash, Kumar‐M., Au, Wing‐Lok , Meah, Wee-Yang, Mok, Shi Qi, Chan, Anne , Chen, Ling , Jeon, Beom S., Lin, Juei‐Jueng , Pei, Zhong , Shi, Changhe , Song, Kyuyoung, Wu, Yih‐Ru , Xu, Yuming , Yan, Yaping , Yang, Jing , Zhang, Bao Rong, Le Guen, Yann , Damotte, Vincent , During, Emmanuel , Hort, Jakub , Lin, Ling , Niida, Shumpei , Pasquier, Florence , Real, Luis M , Rujescu, Dan , Spalletta, Gianfranco , Zetterberg, Henrik , Andreassen, Ole A , Tsolaki, Magda , Foo, Jia Nee , Mignot, Emmanuel , Dichgans, Martin , Ramirez, Alfredo , Ross, Owen A , Sachdev, Perminder S , Hardy, John , Nicolas, Gaël , Alvarez, Victoria , Mir, Pablo , Pastor, Pau , Boada, Merce , García-González, Pablo , Molina-Porcel, Laura , de Mendonça, Alexandre , Graff, Caroline , Ambati, Aditya , Yu, Eric , Rojas, Itziar de, Leal, Thiago Peixoto , Miyashita, Akinori , Küçükali, Fahri , Belloy, Michaël E. , Benussi, Luisa , Borroni, Barbara , Bullido, María J. , Caffarra, Paolo , Clarimón, Jordi , Darling, Daniel, Debette, Stéphanie , Deleuze, Jean‐François , Galimberti, Daniela , García-González, Pablo, Goldhardt, Oliver , Hanon, Olivier , Heilmann‐Heimbach, Stefanie , Holstege, Henne H. , Hort, Jakub , Mecocci, Patrizia , Moebus, Susanne , Nacmias, Benedetta , Parnetti, Lucilla , Pasquier, Florence , Pijnenburg, Yolande A.L. , Piñol‐Ripoll, Gerard , Rainero, Innocenzo , Royo, José Luís , Scheltens, Philip , Scherbaum, Norbert , Seripa, Davide , Skoog, Ingmar , Squassina, Alessio , Swieten, John C. van , Sánchez‐Valle, Raquel , Teunissen, Charlotte E. , Vyhnálek, Martin , Wærn, Margda , Wiltfang, Jens , Zhang, Jing , EADB, group, GR@ACE study, DemGene, EADI, GERAD, Zetterberg, Henrik , Williams, Julie , Amouyel, Philippe , Tsolaki, Magda , Frikke-Schmidt, Ruth , Sleegers, Kristel , Toda, Tatsushi , Ingelsson, Martin , Rossi, Giacomina, Hiltunen, Mikko O. , Ozaki, Kouichi , Sims, Rebecca, Foo, Jia Nee , Flier, Wiesje M. van der , Ikeuchi, Takeshi , Mata, Ignácio F. , Ruiz, Agustı́n , Gan‐Or, Ziv , Andrade, Víctor , Amin, Najaf , Campos-Martín, Rafael , Holmans, Peter , Kleineidam, Luca , Lee, Sven J. van der , Rojas, Itziar de, Yaqub, Amber , Prokic, Ivana, Costa, Marcos R. , Chapuis, Julien , Ahmad, Shahzad , Aarsland, Dag, Alarcón‐Martín, Emilio , Alcolea, Daniel , Alegret, Montserrat , Álvarez, Ignacio , Appollonio, Ildebrando Marco , Arcaro, Marina , Athanasiu, Lavinia, Berr, Claudine , Bessi, Valentina , Binetti, Giuliano , Boschi, Silvia , Bråthen, Geir , Bresner, Catherine , Brodaty, Henry , Brookes, Keeley J. , Burholt, Vanessa, Calero, Miguel , Chêne, Geneviève , Carracedo, Ãngel , Cervera‐Carles, Laura , Charbonnier, Camille , Claassen, Jurgen A.H.R. , Conti, Elisa , Corma‐Gómez, Anaïs , Custodero, Carlo , Dalmasso, Carolina , Dardiotis, Efthimios , Deyn, Peter Paul De , Ser, Teodoro del , Denning, Nicola , Diehl‐Schmid, Janine , Díez-Fairén, Mónica , Rossi, Paolo Dionigi , Djurovic, Srdjan , Duron, Emmanuelle , Escott-Price, Valentina, Espinosa, Ana , Ferri, Evelyn , Fischer, Peter A. , Fladby, Tormod , Fortea, Juan , Fostinelli, Silvia , Fox, Nick C. , Frank, Ana , Froelich, Lutz , García-González, Pablo, Ghidoni, Roberta , Giegling, Ina, Grimmer, Timo , Guetta‐Baranes, Tamar , Haapasalo, Annakaisa , Hadjigeorgiou, Georgios M. , Hampel, Harald , Hardy, John, Heneka, Michael T. , Hernández, Isabel, Herrmann, Martin J. , Hoffmann, Per, Holmes, Clive , Kivipelto, Miia , Kornhuber, Johannes , Kosmidis, Mary H. , Laukka, Erika J. , Lauria, Alessandra , Lehtisalo, Jenni , Lleó, Alberto , Munain, Adolfo Lopez de, Macías, Juan, MacLeod, Catherine Anne , Mangialasche, Francesca , Marquié, Marta , Marshall, Iain James , Mead, Simon , Medina, Miguel , Meggy, Alun, Menéndez‐González, Manuel , Moebus, Susanne, Mol, Merel O. , Montrreal, Laura , Morgan, Kevin , Ngandu, Tiia , Olaso, Robert , Orellana, Adelina , Ortega, Gemma , Padovani, Alessandro , Pérez‐Cordón, Alba , Pineda, Juan Antonio , Piñol-Ripoll, Gerard, Pisanu, Claudia , Posthuma, Daniëlle , Priller, Josef , Quintela, Inés , Reinders, Marcel J. T. , Roberto, Natalia , Rongve, Arvid, Rosende‐Roca, Maitée , Rubino, Elisa , Rujescu, Dan, Sáez, María Eugenia , Saltvedt, Ingvild Tina , Sanabria, Ángela , Sánchez-García, Florentino , Scarpini, Elio , Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias C. , Schott, Jonathan M., Selbæk, Geir , Shadrin, Alexey A, Soininen, Hilkka S. , Solfrizzi, Vincenzo, Solomon, Alina , Sorbi, Sandro , Sotolongo‐Grau, Óscar , Tárraga, Lluís , Tesi, Niccoló , Thalamuthu, Anbupalam , Uitterlinden, André G. , Valero, Sergi , Lugt, Aad van der , Rooij, Jeroen van , Vandenberghe, Rik , Vidal, Jean‐Sébastien , Vogelgsang, Jonathan S. , Wagner, Michael , Wallon, David , Weinhold, Leonie , Yannakoulia, Mary , Serpente, María , Assogna, Francesca , Piras, Fabrizio , Piras, Federica, Ferrarese, Carlo , Sala, Gessica , Zoia, C , Benussi, Alberto , Takalo, Mari , Laatikainen, Tiina K. , Tuomi, Tiinamaija , Strandberg, Timo E. , Lindström, Jaana , Peltonen, Markku , Abraham, Richard, Al-Chalabi, Ammar, Bass, Nicholas , Brayne, Carol, Gerrish, Amy, Gill, Michael , Harold, Denise , Lawlor, Brian, Livingston, Gill , Lovestone, Simon , Lupton, Michelle K. , Mann, David , McGuinness, Bernadette , McQuillin, Andrew, O‘Donovan, Michael , Powell, John , Proitsi, Petra, Rossor, Martin, Shaw, Christopher E. , Smith, A. David , Todd, Stephen, Macías‐García, Daniel , Carrillo, F, Vargas, Liliana , Marín, M, Alonso, María Dolores, Gómez-Garre, P, Cañabate, Pilar , Escuela, R, Vigo-Ortega, R, Jesús, Silvia , Vacca, Alessandro , Roveta, Fausto , Boecker, Henning , Perneczky, Robert , Anastasiou, Costas Anastasios , Malik, Rainer , Parveen, Kayenat, Mihova, Kalina Yonkova , Weber, Heike , Kochen, Silvia , Saenz, Aldo, Kohler, Matias, Novack, Gisela Vanina , Tagliavini, Fabrizio , Nielsen, Sune Fallgaard, Fenoglio, Chiara , Biessels, Geert Jan , Love, Seth , Broeckhoven, Christine Van , Rubinsztein, David Chaim , Teipel, Stefan Johannes , Deramecourt, Vincent , Martínez-Larrad, María Teresa, Ghanbari, Mohsen , Mather, Karen A. , Ikram, M. Arfan , Rossi, Giacomina, Andreassen, Ole A., Duijn, Cornelia M. van , Alarcon, E, Buendia, M, Cano, Amanda C. , Anchuelo, Arturo Corbatón , Macı́as, Juan , Maroñas, Olalla , Martín, E, Martínez, MT, Marquié, M, Moreno, M. , Núñez‐Llaves, Raúl , Olivé, C, Puerta, R, Serrano‐Ríos, Manuel , Valero, S, Bernal, M, Carrillo, F, Pancorbo, Marian M. de , Escuela, R, Gómez-Garre, P, Munaín, Adolfo López de , Manzanares, Salvadora , Marín, M, Marquié, M, Martínez, B, Martínez, C, Martínez, V, Álvarez, A Martínez-Lage, Iriarte, M Mendioroz, Tur, J. Pérez, Periñán, María Teresa , Rodrigo, S, Valero, S, Vigo-Ortega, R, Vivancos, L. , Shadrin, Alexey A, Bahrami, Shahram , Rongve, Arvid, Athanasiu, Lavinia, Selnes, Per , Bergh, Sverre , Aarsland, Dag, Andreassen, Ole A., Tzourio, Christophe , Brice, Alexis , Ritchie, Karen , Sims, Rebecca, Gerrish, Amy, Williams, Amy, Meggy, Alun, Nash, William, Castillo-Morales, Atahualpa , Hoffmann, Per, Turton, James , Lord, Jenny , Vardy, Emma , Fisher, Elizabeth , Warren, Jason D. , Schott, Jonathan M., Rossor, Martin, Guerreiro, Rita , Al-Chalabi, Ammar, Bass, Nick, Abraham, Richard, Heun, Reinhard , Todd, Stephen, Proitsi, Petra, Hodges, Angela , Becker, Tim , Lawlor, Brian, McQuillin, Andrew, Hardy, John, Brayne, Carol, Deloukas, Panagiotis, Ben‐Shlomo, Yoav , Hooper, Nigel M. , Pickering‐Brown, Stuart , Warner, Nick, Bayer, Anthony, Singleton, Andrew , Rujescu, Dan, Giegling, Ina, Heuser, Isabella , Drichel, Dmitriy , Nöthen, Markus M. , Riemenschneider, Matthias, Gu, Wei , Scherer, Martin, Moebus, Susanne, Morris, John C. , Owen, Michael J. , Escott-Price, Valentina, Chew, Elaine Guo Yan , Chung, Sun Ju , Chao, Yinxia , Ahmad‐Annuar, Azlina , Chen, Yongping , Jiang, Lulu , Lim, Jia Lun , Liu, Chun‐Feng , Mao, Chengjie , Mok, Vincent , Pei, Zhong , Shang, Huifang , Tan, Ai Huey , Xu, Renshi , Zhang, Bao Rong, Koh, Woon‐Puay , Lim, Shen‐Yang , Khor, Chiea Chuen , Liu, Jianjun
Proceedings of the National Academy of Sciences | August 29, 2023 | Volume: 120 | Issue: 36 | Pages: No page available
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1 *04 subtypes best accounted for the association, strongest with HLA-DRB1 *04:04 and HLA-DRB1 *04:07, and intermediary with HLA-DRB1 *04:01 and HLA-DRB1 *04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1 *04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1 *04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues.
Replication of BIN1 Association with Alzheimer's Disease and Evaluation of Genetic Interactions
Carrasquillo, Minerva M. , Belbin, Olivia , Hunter, Talisha A., Bisceglio, Gina, Zou, Fanggeng, Sando, Sigrid Botne , Aasly, Jan , Barcikowska, Maria , Dickson, Dennis W. , Graff‐Radford, Neill R. , Petersen, Ronald C. , Morgan, Kevin , Younkin, Steven G., Kehoe, Patrick G. , Belbin, Olivia , Dickson, Dennis W , Carrasquillo, Minerva M. , Ma, Li , Crook, Julia E. , Pankratz, V. Shane , Wszołek, Zbigniew K.
Journal of Alzheimer’s Disease | May 16, 2018 | Volume: 24 | Issue: 4 | Pages: 751-758
The most recent late-onset Alzheimer's disease (LOAD) genome-wide association study revealed genome-wide significant association of two new loci: rs744373 near BIN1 (p = 1.6 × 10 −11 ) and rs597668 near EXOC3L2/BLOC1S3/MARK4 (p = 6.5 × 10 −9 ). We have genotyped these variants in a large (3,287 LOAD, 4,396 controls), independent dataset comprising eleven case-control series from the USA and Europe. We performed meta-analyses of the association of these variants with LOAD and also tested for association using logistic regression adjusted by age-at-diagnosis, gender, and APOE ε4 status. Meta-analysis results showed no evidence of series heterogeneity and logistic regression analysis successfully replicated the association of BIN1 (rs744373) with LOAD with an odds ratio (OR = 1.17, p = 1.1 × 10 −4 ) comparable to that previously reported (OR = 1.15). The variant near EXOC3L2 (rs597668) showed only suggestive association with LOAD (p = 0.09) after correcting for the presence of the APOE ε4 allele. Addition of our follow-up data to the results previously reported increased the strength of evidence for association with BIN1 (11,825 LOAD, 32,570 controls, rs744373 Fisher combined p = 3.8 × 10 −20 ). We also tested for epistatic interaction between these variants and APOE ε4 as well as with the previously replicated LOAD GWAS genes (CLU: rs11136000, CR1: rs3818361, and PICALM: rs3851179). No significant interactions between these genes were detected. In summary, we provide additional evidence for the variant near BIN1 (rs744373) as a LOAD risk modifier, but our results indicate that the effect of EXOC3L2 independent of APOE ε4 should be studied further.
P1‐055: MULTIPLE ABCA7 MISSENSE VARIANTS MINED FROM THE EXOME VARIANT SERVER SHOW INDEPENDENT ASSOCIATION WITH INCREASED OR DECREASED RISK OF LATE‐ONSET ALZHEIMER'S DISEASE (LOAD)
Medway, Christopher W, Abdul‐Hay, Samer O., Mims, Tynickwa, Zou, Fanggeng, Bisceglio, Gina, Pankratz, Shane, Sando, Sigrid Botne , Aasly, Jan , Carrasquillo, Minerva M. , Graff‐Radford, Neill R., Petersen, Ronald C. , Ertekin‐Taner, Nilüfer , Younkin, Steven G., Ma, Li , Barcikowska, Maria , Siuda, Joanna S. , Wszołek, Zbigniew K. , Ross, Owen A. , Carrasquillo, Minerva M. , Dickson, Dennis W. , Graff‐Radford, Neill R., Morgan, Kevin
Alzheimer's & Dementia | September 6, 2014 | Volume: 10 | Issue: 4S_Part_8 | Pages: No page available
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Lee, J.-M., Ramos, E.M., Lee, J.-H., Gillis, Tammy , Mysore, Jayalakshmi Srinidhi, Hayden, Michael R. , Warby, Simon C. , Morrison, PJ, Nance, Martha , Ross, Christopher A. , Margolis, Russell L. , Squitieri, Ferdinando , Orobello, S., Donato, Stefano Di , Gómez‐Tortosa, Estrella , Ayuso, Carmen , Suchowersky, Oksana , Trent, R J, McCusker, Elizabeth, Novelletto, Andrea , Frontali, Marina , Jones, Randi, Ashizawa, Tetsuo , Saint‐Hilaire, Marie , Hersch, Steven M. , Rosas, H. Diana , Lucente, Diane , Harrison, Madeline, Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge , Paulsen, Jane S. , Landwehrmeyer, G. Bernhard , Myers, Richard H. , MacDonald, Marcy E., Gusella, James F. , Frati, Luigi, Perlman, Susan B. , Conneally, P. M., Klimek, Mary Lou, Diggin, Melissa, Hadzi, Tiffany C., Duckett, Ayana, Ames, David, Anderson, Christine, Anderson, Karla J., Anderson, Karen, Andrews, Thomasin, Axelson, Eric, Aylward, Elizabeth , Barker, Roger A. , Barth, Katrin, Barton, Stacey K. , Baynes, Kathleen, Bea, Alexandra, Beglinger, Leigh J., Biglan, Kevin , Björk, K., Blanchard, Steve, Bockholt, Jeremy , Bommu, Sudharshan Reddy, Brossman, Bradley G., Burrows, Maggie, Calhoun, Vince D. , Carlozzi, Noelle E. , Chesire, Amy M., Chiu, Edmond, Connell, R.J., Connor, Carmela, Corey‐Bloom, Jody , Craufurd, David, Cross, Stephen, Santos, Rachelle Dar, Davis, Jennifer , Decolongon, Joji, Dipietro, A., Doucette, Nicholas, Downing, Nancy R. , Dudler, Ann, Ecker, Daniel, Erickson, Diane, Erwin, Cheryl , Farias, Sarah Tomaszewski , Fatas, Marta, Fullam, Ruth, Furtado, Sarah , Garde, Mónica Bascuñana, Geschwind, Michael D., Gooblar, Jon, Goodman, Anna , Griffith, Jane, Groves, Mark, Guttman, Mark, Hamilton, Joanne M., Harris, Greg, Heaton, Robert K. , Helmer, Karl, Henneberry, Machelle, Herwig, Kelly, Howard, Elizabeth, Hunter, Christine , Jankovic, Joseph, Johnson, Hans J. , Johnson, Arik, Jones, Kathy, Kimble, Mycah, King, Pamela, Klöppel, Stefan , Komiti, Angela , Kumar, Rajeev , Leavitt, Blair, Leserman, Anne, Lipe, Hillary, Lowe, Mark J. , Magnotta, Vincent A. , Mallonee, William, Mans, Nicole , Marietta, Jacquie, Marshall, Frederick J., Mason, Sarah, Matheson, Kirsty, Matson, Wayne R., McDowell, William , Miedzybrodzka, Zosia , Mills, James A. , Miracle, Dawn, Montross, Kelsey, Moore, David D. , Mori, S., Moskowitz, Carol, Newman, Emily R., Novak, Marianne, O’Rourke, Justin J. F., Oakes, David , Ondo, William G. , Orth, Michael, Pease, Karen R., Perlmutter, Joel, Peterson, Asa , Pierson, Ron, Preston, J. Samuel, Quaid, Kimberly A., Radtke, Dawn, Rae, D. O., Raymond, Lynn A. , Reading, Sarah, Ready, Rebecca E. , Reece, Christine, Reynolds, Norm, Richardson, Kylie, Rickards, Hugh , Ro, Eunyoe , Rodnitzky, Robert L., Rosser, Elisabeth, Rosser, Anne, Price, Kathy, Price, Kathy, Ryan, Pat, Salmon, David P. , Samii, Ali, Schumacher, Jamy, Sendon, Jose Luis Lópenz, Shear, Paula K. , Sheinberg, Alanna, Shpritz, Barnett, Simpson, Sheila A., Singer, Adam D. , Smith, Megan M. , Snyder, Pete, Song, Allen W. , Sran, Satwinder, Stober, Janice, muth, Sigurd Sü, Suter, Greg, Tabrizi, Sarah J. , Tempkin, Terry, Thompson, Sean , Thomsen, Teri, Thumma, Kelli, Trautmann, Sonja, Tremont, Geoff, Turner, Jessica A. , Uc, Ergun, Duijn, E. van, Walsem, Marleen van, Vik, Stacie , Vonsattel, Jean Paul, Vuletich, Elizabeth J., Warner, Tom, Wasserman, Paula, Waterman, Elijah, Weaver, Kurt E. , Weir, David , Werling-Witkoske, Chris, Wesson, Melissa, Westervelt, Holly James , Weydt, Patrick , Wheelock, Vicki, Wodarski, Mary, Wojcieszek, Joanne, Wood, Jessica, Wood‐Siverio, Cathy, Wu, Shuhua , Yastrubetskaya, Olga, Yébenes, Justo García de, Zhao, Yong Qiang, Zimbelman, Janice L., Zschiegner, Roland, Aaserud, Olaf, Abbruzzese, Giovanni , Andrews, Thomasin, Andrich, Jurgin, Antczak, Jakub , Arran, Natalie, Artiga, María José Saiz, Bachoud‐Lévi, Anne‐Catherine , Banaszkiewicz, Krysztof, Barberá, Miguel Aguilar, Barrero, Francisco Javier , Bas, Jordi, Beister, Antoine, Bertini, Elisabetta, Biunno, Ida , Bjørgo, Kathrine, Bjørnevoll, Inga, Bohlen, Stefan, Bonelli, Raphael M., Bos, Reineke, Bourne, Colin, Bradbury, Alyson, Brockie, Peter, Brown, Felicity, Buck, Andrea, Burg, Sabrina, Burgunder, Jean‐Marc , Burns, Peter, Burrows, Liz, Calopa, Matilde , Carruesco, Gemma Tome, Casado, Ana Gonzalez, Catena, Judit López, Chu, Carol , Clapton, Jackie, Clayton, Carole, Clenaghan, Catherine, Connemann, Julia, Crooks, Jenny, Cubillo, Patricia Trigo, Cubo, Esther , Curtis, Adrienne, Michele, Giuseppe De , Souza, Jenny de, Weert, A. Marit de, Dekker, M., Descals, Asunción Martínez, Maio, Luigi Di, Pietro, Anna Di, Dipple, Heather, Dose, M., Dumas, Eve M., Dunnett, Stephen B. , Elifani, Francesca , Ellison-Rose, Lynda, Elorza, Marina D., Eschenbach, Carolin, Evans, Carole, Fairtlough, Helen, Fannemel, Madelein, Fenollar, María del Mar, Ferrandes, Giovanna, Ferreira, Jaoquim J., Fillingham, Kay, Finisterra, Ana Maria, Fisher, Kate , Fletcher, Amy, Foster, Jillian, Foustanos, Isabella, Frech, Fernando Alonso, Fullam, Robert, Fullham, Ruth, Gago, Miguel , García, R. de Francisco, García, Socorro S., Garrett, Carolina, Gellera, Cinzia , Gill, Paul R., Ginestroni, Andrea, Golding, Charlotte, Gørvell, Per F., Griguoli, Anna Maria, Gross, Diana, BascuñanaGuerra, Monica, Guerra, Maria Rosália, Guerrero, Rosa , Guía, D. Badenes, Guidubaldi, Arianna, Hallam, Caroline, Hamer, Stephanie, Hammer, K., Handley, Olivia, Harding, Alison, Hasholt, Lis, Hedge, R.M., Heiberg, Arvid, Heinicke, Walburgis, Held, Christine, Hernanz, Laura Casas, Herranhof, Briggitte, Hiivola, Heli, Hjermind, Lena E. , Hobson, Emma, Hoffmann, Rainer , Holl, Anna, Howard, Liz Livingston, Huson, Susan, Ialongo, Tàmara, Idiago, Jesús Miguel Ruiz, Illmann, Torsten, Jachińska, Katarzyna, Jacopini, Gioia, Jakobsen, Oda, Jamieson, Stuart W., Jamrozik, Zygmunt , Janik, Piotr , Johns, Nicola, Jones, Lesley , Jones, Una , Jurgens, Caroline K., Kaelin‐Lang, Alain , Kershaw, Ann, Kieni, Janina, Koivisto, Susana Pro, Koppers, Kerstin, Kosinski, Christoph M., Kremer, Berry, Krysa, Wioletta, Kwieciński, Hubert, Lahiri, Nayana , Lambeck, Johann , Lange, Herwig W. , Laver, Fiona, Levey, Jamie, Leythaeuser, Gabriele, Lezius, Franziska , Llesoy, Joan Roig, Löhle, Matthias , López, Cristobal Diez-Aja, Lorenza, Fortuna, Loria, G, Magnet, Markus, Mandich, Paola , Mariotti, Caterina , Mariscal, Natividad, Marková, Ivana S. , Marquard, Ralf, Martikainen, Kirsti, Martínez, Isabel Haro, Martínez‐Descals, Asunción, Martino, T., Mason, Sarah, McKenzie, Sue, Mechi, Claudia, Middleton, Julia, Milkereit, Eva, Miller, Julie, Minster, Sara, Möller, Jens Carsten , Monza, Daniela, Morales, Blas, Moreau, Laura V., Murch, Ann, Niess, Anke, Nørremølle, Anne , O'Donovan, Kristy, Orth, Michael, Otti, Daniela, Padieu, Hélène, Paganini, M. , Painold, Annamaria , Päivärinta, Markku, Partington-Jones, Lucy, Paterski, Laurent, Paterson, Nicole D., Patino, Dawn Freire-, Patton, Michael J. , Peinemann, Alexander, Peppa, Nadia , Perea, María Fuensanta Noguera, Peterson, Maria, Càrdenas, Regina Pons i, Prehn, Christian, Price, Kathleen, Probst, Daniela, Quiroga, Purificacion Pin, Raab, Tina, Rakowicz, Maryla, Raman, Ashok, Raymond, Lucy, Reinante, Gema, Retterstøl, Lars, Ribaı̈, Pascale, Riballo, Antonio Villa, Ribas, Guillermo García, Rinaldi, Carlo , Rissling, Ida, Rivera, Susana Vázquez , Robert, Misericordia Floriach, Roca, Elvira, Romano, Silvia , Romoli, Anna Maria , Roos, Raymond A.C., Røren, Niini, Rosser, Anne, Rossi, F., Rothery, Jean, Ruíz, Belan Garzon, Russo, Cinzia Valeria , Ryglewicz, Danuta , Saft, Carston, Sánchez, Vicenta , Sando, Sigrid Botne , Šašinková, Pavla, Saß, Christian, Scheibl, Monika, Schiefer, Johannes, Schlangen, Christiane, Schöggl, Helmut, Schrenk, Caroline, Schüpbach, Michaël , Schuierer, Michele, Sebastián, Ana Rojo, Selimbegovic-Turkovic, Amina, Sempołowicz, Justyna, Silva, Mark, Sławek, Jarosław , Snowden, Julie S. , Soleti, Francesco, Sollom, Andrea, Sołtan, Witold, Sorbi, Sandro , Sørensen, Sven Asger, Spadaro, M., Städtler, Michael, Stamm, Christiane, Steiner, Tanja, Stokholm, Jette, Stokke, Bodil, Storch, Alexander , Straßburger, Katrin, Stubbe, Lars, Szczudlik, Andrzej, Taylor, Rachel , Terol, Santiago Duran-Sindreu, Thomas, Gareth, Thomson, Aileen, Tidswell, Katherine, Torres, María Martirio Antequera, Toscano, Jean, Townhill, Jenny, Tucci, Tecla, Tuuha, Katri, Uhrová, Tereza , Valadas, Anabela , Hout, Monique S.E. van, Oostrom, Joost C.H. van, Vugt, Jeroen P.P. van, vanm, Walsem Marleen R., Vandenberghe, Wim , Verellen‐Dumoulin, Christine, Vergara, M, Verstappen, C.C.P., Verstraelen, Nichola , Viladrich, Cèlia Mareca, Villanueva, Clara , Wahlström, Jan , Wehus, R., Weindl, A., Westmoreland, Leann, Wiedemann, Alexandra, Wild, Edward J. , Wild, Sue, Witjes‐Ané, Marie‐Noëlle W. , Witkowski, Grzegorz , Wójcik-Pędziwiatr, Magdalena , Wolz, Martin , Wolz, Annett, Wright, Jan, Yardumian, Pam, Yates, Shona, Yudina, Elizaveta, Zaugg, Sabine Weber, Zdzienicka, Elżbieta, Zielonka, Euginiusz, Zinzi, Paola , Zucker, B., Adams, John , Antonijevic, Irina , Beck, Christopher A. , Chiu, Edmond, Churchyard, Andrew, Colcher, Amy, Dorsey, Ray, Drazinic, Carolyn, Dubinsky, Richard , Duff, Kevin, Giuliano, Joe, Greenamyre, Timothy, Jennings, Dana, Kang, Un Jung , Kumar, Rajeev, Leavitt, Blair, LeDoux, Mark S. , Mohlo, Eric, Morgan, John C. , Panisset, Michel , Perlmutter, Joel, Revilla, Fredy J., Robertson, Suzanne, Robottom, B., Scott, B.L. , Shoulson, Ira , Singer, Carlos , Tabbal, Samer D., van, Kammen Dan, Vetter, Louise, Walker, Francis O. , Warner, John Harley , Weiner, illiam, Broyles, Janice, Clouse, Ronda, Coleman, Allison, Davis, Robert E. , de-la-Rosa, J.-L., Deuel, Lisa M., Dietrich, Susan, Dubinsky, Hilary, Eaton, Ken, Erickson, Diane, Fitzpatrick, Mary Jane, Frucht, Steven J. , Gartner, Maureen, Goldstein, Jody, Hickey, Charlyne, Hunt, Victoria, Jaglin, Jeana, Lindsay, Pat, Louis, Elan D. , Loy, Clemet, Lucarelli, N., Malarick, Keith, Martin, Amanda, McInnis, Robert , Nucifora, Frederick C. , Palao, Alicia, Peavy, Guerry M. , Quesada, Mónica, Schmidt, Amy P., Segro, Vicki, Sperin, Elaine, Tanev, Kalo, Tempkin, Teresa, Thiede, Curtis, Zauber, Elizabeth, Ferreira, Joaquim J. , Vivancos, L. , Frank, Samuel , Dürr, Alexandra , Rosenblatt, Adam E , Ahmed, Anwar E. , Allen, Paul D. , Anderson, Christine, Ashburner, John , Beall, Erik B. , Beg, Mirza Faisal , Calhoun, Vince D. , Chua, Phyllis M-L. , Cysique, Lucette A. , Dunn, Steve , Epping, Eric A. , Evans, Kenneth , Factor, Stewart Alan , Fiedorowicz, Jess G. , Gehl, Carissa , Goh, Anita , Gooblar, Jonathan, Harrington, Deborah Lynn , Hershey, Tamara G. , Jankovic, Joseph, Johnson, Arik, Juhl, Andrew R. , Kim, Eun Young , Koenig, Katherine A. , Langbehn, Douglas R. , Leavitt, Blair, Lim, Kelvin O. , Martin, W. R. Wayne , Mason, Sarah, Mazzoni, Pietro , Miller, Michael I. , Moser, David J. , Nopoulos, Peg , Orth, Michael, Panegyres, Peter K. , Perlmutter, Joel, Phillips, Michael , Potkin, Steven G. , Rao, Stephen M. , Reilmann, Ralf , Robinson, Robert A. , Rogers, Benedict D. , Rosser, Anne, Price, Kathy, Price, Kathy, Schumacher, Jessica R. , Siedlecki, Karen L. , Smith, Jim Q. , Smith, Glenn E. , Stephan, Klaas Enno , Testa, Claudia M. , Toga, Arthur W. , Uc, Ergun, Vaccarino, Anthony L. , Warner, Tom, Wassink, Thomas H. , Welsh, Claire E. , Williams, Kent C. , Williams, Janet K. , Wood, Jessica, Andrews, Thomasin, Poggio, M. , Bandmann, Oliver , Bentivoglio, Anna Rita , Bruno, Stefania , Bryl, Anna , Busquets, Núria , Busse, Monica E , Ciesielska, Anna , Coelho, Miguel M , Nicola, Antonio De , Fannemel, Madeleine , Fasano, Alfonso , Grant, Janet F. , Guedes, Leonor Correia , Herranhof, Brigitte, Herrera-Espiñeira, Carmen , Hidding, Ute , Hill, Susan , Hunt, Sarah E , Kalbarczyk, Anna , Khalil, Hanan W. , Klimberg, Aneta , Krawczyk, Małgorzata Anna , Kremer, Berry P. H., Leenders, Klaus Leonhard , Marchese, Roberta , Marcinkowski, T , Mason, Sarah, Mendes, Tiago , Mestre, Tiago , Miller, J. Philip , Moreau, Laura V., López-Sendón, José Luis , Münchau, Alexander Maximilian , Nielsen, Jørgen Erik , Orth, Michael, Owen, Michael J. , Freire-Patino, Dawn, Piacentini, Silvia , Piano, Carla , Quarrell, Oliver , Rakowicz, Maryla, Reisinger, Karin M. , Richter, Sven , Ritchie, Stuart James , Rose, Sarah , Rosser, Anne, Rudzińska, Monika , Ruiz, Pedro , Saft, Carston, Salvatore, Elena , Schmidt, Simone Bianca , Sitek, Emilia J. , Soliveri, Paola , Stopford, Cheryl L. , Sułek, Anna , Thompson, J. C. , Warner, Thomas T. , Werner, Cornelius Johannes , Zaremba, Jacek , Zielonka, Daniel , Zittel, Simone , Agarwal, Pinky , Chiu, Edmond, Duff, Kevin, Foroud, Tatiana , Greenamyre, Timothy, Higgins, Donald S. , Kostyk, Sandra K. , Kumar, Rajeev, Leavitt, Blair, Perlmutter, Joel, Sanchez‐Ramos, Juan , Shannon, Kathleen M. , Erickson, Diane, Muratori, Lisa M. , O’Neill, Christine J. , Turner, Jessica A , Ross, Christopher A , Ferreira, Joaquim J , Sławek, Jarosław , Magnotta, Vincent A
Neurology | February 9, 2012 | Volume: 78 | Issue: 10 | Pages: 690-695
P1‐229: Genome‐Wide Association Study of Brain Gene Expression Levels (eGWAS)
Ertekin‐Taner, Nilüfer , Zou, Fanggeng, Chai, High Seng, Younkin, Curtis, Pankratz, Shane, Allen, Mariet , Carrasquillo, Minerva M. , Rowley, Christopher , Pedraza, Otto , Campbell, Harry , Hastie, Nicholas D. , Nair, Asha, Maharjan, Sooraj, Nguyen, Thuy , Malphrus, Kimberly G., Palusak, Ryan, Lincoln, Sarah, Bisceglio, Gina, Georgescu, Constantin , Kolbert, Christopher P., Jen, Jin , Sando, Sigrid Botne , Aasly, Jan , Petersen, Ronald C. , Graff‐Radford, Neill, Wright, Alan F., Younkin, Steven G. , Crook, Julia E. , Carrasquillo, Minerva M. , Ansari, Morad , Hayward, Caroline , Rudan, Igor , Polašek, Ozren , Middha, Sumit , Ma, Li , Wszołek, Zbigniew K. , Barcikowska, Maria , Morgan, Kevin , Jack, Clifford R. , Graff‐Radford, Neill, Dickson, Dennis W.
Alzheimer's & Dementia | August 1, 2011 | Volume: 7 | Issue: 4S_Part_5 | Pages: No page available
P1‐217: Replication of LOAD GWAS Associations
Carrasquillo, Minerva M. , Belbin, Olivia , Talisha, Hunter, Bisceglio, Gina, Zou, Fanggeng, Sando, Sigrid Botne , Aasly, Jan , Graff‐Radford, Neill, Petersen, Ronald C. , Younkin, Steven G., Carrasquillo, Minerva M. , Ma, Li , Crook, Julia E. , Pankratz, V. Shane , Barcikowska, Maria , Wszołek, Zbigniew K. , Dickson, Dennis W. , Graff‐Radford, Neill, Morgan, Kevin
Alzheimer's & Dementia | August 1, 2011 | Volume: 7 | Issue: 4S_Part_5 | Pages: No page available