Citations 5
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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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
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. 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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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Neurology | February 9, 2012 | Volume: 78 | Issue: 10 | Pages: 690-695
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.