Citations 9
Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder
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No container title available | June 25, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available
ABSTRACT Bipolar disorder’s (BD) clinical heterogeneity has an unresolved genetic basis. We meta-analyzed genome-wide association studies (GWAS) of 16 BD subphenotypes in 226,032 individuals from 57 cohorts (38,022 cases); 10 advanced to multivariate and multi-trait analyses. Four factors (compulsive, psychotic, dysregulated, internalizing) explained 82.8% of shared genetic variance. BD1 and BD2 loaded on distinct factors despite a high genetic correlation; 87.0% of common-factor loci were significant in neither subtype. Unipolar mania aligned with psychosis over internalizing, and was distinguishable from BD1, and rapid cycling showed heritable cross-domain liability. We identified 356 risk loci, 158 novel, including the first univariate-GWAS associations for psychosis, unipolar mania, rapid cycling and schizoaffective disorder—and 249 credible genes (89 high-confidence), 12 with approved-drug or clinical-phase annotations. Cell-type association showed a midbrain dopaminergic–GABAergic gradient along the psychotic factor. BD’s genetic architecture appears hierarchical—a general liability resolving into dimensions of course and comorbidity beyond diagnostic subtypes.
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
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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.
The Role of Variation at AβPP, PSEN1, PSEN2, and MAPT in Late Onset Alzheimer's Disease
Gerrish, Amy , Russo, Giancarlo , Richards, Alexander , Moskvina, Valentina, Ivanov, Dobril , Harold, Denise , Sims, Rebecca , Abraham, Richard, Hollingworth, Paul, Chapman, Jade , Hamshere, Marian L. , Pahwa, Jaspreet Singh, Dowzell, Kimberley, Jones, Nicola, Thomas, Charlene , Stretton, Alexandra, Morgan, Angharad R., Lovestone, Simon , Powell, John , Proitsi, Petroula , Brayne, Carol , Gill, Michael , Lynch, Aoibhinn, Morgan, Kevin , Brown, Kristelle, Passmore, Peter , Craig, David W. , McGuinness, Bernadette , Todd, Stephen , Johnston, Janet, Smith, A. David , Love, Seth , Kehoe, Patrick G. , Hardy, John , Mead, Simon , Fox, Nick C. , Rossor, Martin N. , Collinge, John, Maier, Wolfgang, Jessen, Frank , Kölsch, Heike, Schürmann, Britta, Bussche, Hendrik van den, Heuser, Isabella , Kornhuber, Johannes , Wiltfang, Jens , Dichgans, Martin , Frölich, Lutz, Hampel, Harald , Hüll, Michael, Goate, Alison , Kauwe, John, Cruchaga, Carlos , Nowotny, Petra, Morris, John C. , Mayo, Kevin H. , Livingston, Gill , Gurling, Hugh, McQuillin, Andrew , Gwilliam, Rhian, Deloukas, Panagiotis, Davies, Gail , Starr, John M. , Deary, Ian J. , Al‐Chalabi, Ammar , Shaw, Christopher E. , Tsolaki, Magda , Singleton, Andrew B., Guerreiro, Rita , Mühleisen, Thomas W. , Nöthen, Markus M. , Moebus, Susanne , Jöckel, Karl‐Heinz , Klopp, Norman, Wichmann, H‐Erich, Carrasquillo, Minerva M., Younkin, Steven G., Jones, Lesley , Holmans, Peter , O‘Donovan, Michael , Williams, Julie , Deloukas, Panos , Escott‐Price, Valentina , Denning, Nicola , Dichgans, Martin , Cruchaga, Carlos , Kornhuber, Johannes , Nöthen, Markus M , Hardy, John , Moebus, Susanne , Williams, Amy L. , Lupton, Michelle K. , Rubinsztein, David Chaim , LAWLOR, BRIAN A. , Holmes, Clive , Mann, David , Heun, Reinhard , Rujescu, Dan , Bass, Nicholas , Harris, Sarah , Carrasquillo, Minerva M. , Pankratz, V. Shane , Owen, Michael J. , Fox, Nick C , Morris, John C , Wiltfang, Jens , Al-Chalabi, Ammar , Tsolaki, Magda , Goate, Alison M , McQuillin, Andrew , Escott-Price, Valentina
Journal of Alzheimer's Disease | May 16, 2018 | Volume: 28 | Issue: 2 | Pages: 377-387
A Multi-Center Study of ACE and the Risk of Late-Onset Alzheimer's Disease
Belbin, Olivia , Brown, Kristelle, Shi, Hui , Medway, Christopher, Abraham, Richard, Passmore, Peter , Mann, David, Smith, A. David , McGuinness, Bernadette , Craig, David , Warden, Donald, Kölsch, Heike, Love, Seth , Kalsheker, Noor , Williams, Julie , Carrasquillo, Minerva M., Younkin, Steven G., Morgan, Kevin , Kehoe, Patrick G. , Belbin, Olivia , Mann, David, Holmes, Clive , Heun, Reinhard , Owen, Michael J. , Carrasquillo, Minerva M.
Journal of Alzheimer's Disease | May 16, 2018 | Volume: 24 | Issue: 3 | Pages: 587-597
Convergent genetic and expression data implicate immunity in Alzheimer's disease
Jones, Lesley , Lambert, Jean‐Charles , Choi, Seung‐Hoan, Harold, Denise , Vedernikov, Alexey , Escott‐Price, Valentina , Stone, Timothy, Richards, Alexander , Bellenguez, Céline , Sims, Rebecca , DeStefano, Anita L. , Bis, Joshua C. , Beecham, Gary W. , Grenier‐Boley, Benjamin , Russo, Giancarlo , Thornton‐Wells, Tricia A., Jones, Nicola, Smith, Albert V. , Thomas, Charlene , Zélénika, Diana, Kamatani, Yoichiro, Lin, Chiao‐Feng , Schmidt, Helena , Kunkle, Brian W. , Dunstan, Melanie , Ruiz, Agustı́n , Bihoreau, Marie‐Thérèse, Reitz, Christiane, Hollingworth, Paul, Hanon, Olivier , Fitzpatrick, Annette L., Buxbaum, Joseph D. , Campion, Dominique , Crane, Paul K. , Guðnason, Vilmundur , Cruchaga, Carlos , Craig, David W. , Amin, Najaf , Jager, Philip L. De , Deramecourt, Vincent , Johnston, Janet, Evans, Denis A., Lovestone, Simon , Letteneur, Luc, Kornhuber, Johanes, Tárraga, Lluís , Eiriksdottir, Gudny, Goate, Alison , Fiévet, Nathalie, Huentelman, Matthew J. , Gill, Michael , Emilsson, Valur , Brown, Kristelle, Kamboh, M. Ilyas , Keller, Lina, Barberger‐Gateau, Pascale, McGuinness, Bernadette , Larson, Eric B., Dufouil, Carole , Todd, Stephen , Wallon, David , Kehoe, Patrick G. , George‐Hyslop, Peter St , Lleὀ, Alberti, Bayer, Anthony, Tsuang, Debby W. , Yu, Lei, Tsolaki, Magda , Bossù, Paola , Spalletta, Gianfranco , Proitsi, Petra, Collinge, John, Sorbi, Sandro , Hardy, John , Naranjo, María Cándida Déniz, Razquín, Cristina , Bosco, Paola , Clarke, Robert , Brayne, Carol , Galimberti, Daniela , CFAS, MRC, Moebus, Susanne , Mecocci, Patrizia , Zompo, Maria Del, Maier, Wolfgang, Hampel, Harald , Pilotto, Alberto, Bullido, María J. , Panza, Francesco , Caffarra, Paolo , Nacmias, Benedetta , Gilbert, John R., Mayhaus, Manuel, Jessen, Frank , Dichgans, Martin , Lannfelt, Lars , Håkonarson, Håkon , Pichler, Sabrina, Carrasquillo, Minerva M., Beekly, Duane, Alavarez, Victoria, Zou, Fanggeng, Younkin, Steven G., Hamilton‐Nelson, Kara L., Mateo, Ignacio, Faber, Kelley M., Jónsson, Pálmi V. , Combarros, Onofre, O‘Donovan, Michael , Cantwell, Laura B., Blacker, Deborah , Mead, Simon , Harris, Tamara B., Fratiglioni, Laura , Bruijn, Renée F.A.G. de, Passmore, Peter , Montine, Thomas J. , Bettens, Karolien, Rotter, Jerome I. , Brice, Alexis , Morgan, Kevin , Foroud, Tatiana, Kukull, Walter A. , Hannequin, Didier , Powell, John , Nalls, Michael A., Ritchie, Karen , Lunetta, Kathryn L. , Kauwe, John S.K., Boerwinkle, Eric , Riemenschneider, Matthias, Boada, Merçé , Hiltunen, Mikko , Martin, Eden R. , Pástor, Pau , Schmidt, Reinhold, Dartigues, Jean‐François, Mayeux, Richard , Tzourio, Christophe , Hofman, Albert , Nöthen, Markus M. , Graff, Caroline , Haines, Jonathan L. , Lathrop, Mark, Pericak‐Vance, Margaret A. , Launer, Lenore J. , Farrer, Lindsay A. , Duijn, Cornelia M. van , Broeckhoven, Christine Van , Ramı́rez, Alfredo , Schellenberg, Gerard D., Seshadri, Sudha , Amouyel, Philippe , Williams, Julie , Holmans, Peter , Bennett, David A. , Proitsi, Petroula , Ballantyne, Christie M. , Denning, Nicola , Wang, Weixin , Ibrahim‐Verbaas, Carla A. , Naj, Adam Christian , Gerrish, Amy , Jun, Gyungah , Chouraki, Vincent Antoine , Ikram, M. Arfan , Vardarajan, Badri Narayan , Kamatani, Yoichiro, Pasquier, Florence , Becker, Tim , Cruchaga, Carlos , Berr, Claudine , López, Oscar L. , Rubinsztein, David Chaim , Sleegers, Kristel , Myers, Amanda , Love, Seth , Rogaeva, Ekaterina A. , Gallacher, John , Clarimón, Jordi , Bayer, Anthony, Proitsi, Petra, Sánchez-García, Florentino , Fox, Nick C. , Mancuso, Michelangelo , CFAS, MRC, Carrasquillo, Minerva M. , Ingelsson, Martin , Valladares, Otto , Coto, Eliécer , Hamilton‐Nelson, Kara L. , Owen, Michael J. , Soininen, Hilkka S. , Mosley, Thomas H. , Bennett, David , Holmes, Clive , Riemenschneider, Matthias, Rujescu, Dan , Psaty, Bruce M. , Bennett, David A. , Dichgans, Martin , Ramirez, Alfredo , Hakonarson, Hakon , Nöthen, Markus M , Seshadri, Sudha , Hardy, John , Amouyel, Philippe , Tzourio, Christophe , van Duijn, Cornelia M , Smith, Albert V , Ballantyne, Christie M , Rotter, Jerome I , Moebus, Susanne , Ruiz, Agustín , Pastor, Pau , Boada, Merce , Tsolaki, Magda , Brice, Alexis , Goate, Alison M , Galimberti, Daniela , Escott-Price, Valentina , Mecocci, Patrizia , Nacmias, Benedetta , Graff, Caroline , Riemenschneider, Markus J.
Alzheimer's & Dementia | December 20, 2014 | Volume: 11 | Issue: 6 | Pages: 658-671
AbstractBackgroundLate‐onset Alzheimer's disease (AD) is heritable with 20 genes showing genome‐wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis.MethodsThe ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain.ResultsALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 × 10−12 after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 × 10−11), cholesterol transport (P = 2.96 × 10−9), and proteasome‐ubiquitin activity (P = 1.34 × 10−6). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002–.05).ConclusionsThe immune response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
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, 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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
O2‐07‐06: Meta‐analysis of the association between SORL1 variants and Alzheimer's disease
Reitz, Christiane , Cheng, Rong , Tokuhiro, Shinya, Bettens, Karolien, Tan, Eng King, Kimura, Ryo , Shibata, Nobuto , Prince, Jonathan A., Maier, Wolfgang , Riemenschneider, Matthias, Hollingworth, Paul, Pericak‐Vance, Margaret A. , Younkin, Steven G., Mayeux, Richard , Rogaeva, Ekaterina A. , Lee, Joseph , Sleegers, Kristel , Kamboh, M. Ilyas , Riemenschneider, Matthias, Owen, Michael J. , Harold, Denise , Cellini, Elena , Williams, Julie , Broeckhoven, Christine Van , Farrer, Lindsay A. , George‐Hyslop, Peter St
Alzheimer's & Dementia | July 11, 2010 | Volume: 6 | Issue: 4S_Part_4 | Pages: No page available
P4‐124: An examination of previously reported Alzheimer candidate genes within a large genome‐wide association dataset
Abraham, Richard, Hollingworth, Paul, Hamshere, Marian L. , Passmore, Peter , Livingston, Gill , Bass, Nicolas, Younkin, Steve, Gwilliam, Rhian, Gerrish, Amy , Harold, Denise , Sims, Rebecca , Lovestone, Simon , Brayne, Carol , Gill, Michael , LAWLOR, BRIAN A. , Nöthen, Markus M. , Mayer, Wolfgang , Goate, Alison , Al‐Chalabi, Ammar , Morgan, Kevin , Deloukas, Panos , Holmans, Peter , O‘Donovan, Michael , Owen, Michael J. , Williams, Julie
Alzheimer's & Dementia | June 25, 2009 | Volume: 5 | Issue: 4S_Part_15 | Pages: No page available
Susceptibility Locus for Alzheimer's Disease on Chromosome 10
Holmans, Peter , Marshall, Helen, Kwon, Jennifer M. , Meyer, David , Ramic, Dzanan, Shears, Shantia, DeVriéze, Fabienne Wavrant, Hamshere, Marian L. , Abraham, Richard, Tunstall, Nigel, Rice, Frances , Carty, Stephanie, Lillystone, Sara, Kehoe, Patrick G. , Rudrasingham, Varuni, Jones, Lesley , Lovestone, Simon , Pérez‐Tur, Jordi , Williams, Julie , Hardy, John , Goate, Alison , Myers, Amanda , Booth, Jeremy , Crook, Richard , Owen, Michael J. , Hardy, John , Goate, Alison M
Science | July 27, 2002 | Volume: 290 | Issue: 5500 | Pages: 2304-2305
The apolipoprotein E ( APOE ) gene is the only genetic risk factor that has so far been linked to risk for late-onset Alzheimer's disease (LOAD). However, 50 percent of Alzheimer's disease cases do not carry an APOE4 allele, suggesting that other risk factors must exist. We performed a two-stage genome-wide screen in sibling pairs with LOAD to detect other susceptibility loci. Here we report evidence for an Alzheimer's disease locus on chromosome 10. Our stage one multipoint lod score (logarithm of the odds ratio for linkage/no linkage) of 2.48 (266 sibling pairs) increased to 3.83 in stage 2 (429 sibling pairs) close to D10S1225 (79 centimorgans). This locus modifies risk for Alzheimer's disease independent of APOE genotype.