Citations 7
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.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
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JAMA Neurology | August 30, 2021 | Volume: 78 | Issue: 10 | Pages: 1236
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Zhang, Ming , Ferrari, Raffaele, Tartaglia, Maria Carmela , Keith, Julia , Surace, Ezequiel , Wolf, Uri, Sato, Christine , Grinberg, Mark, Liang, Yan , Xi, Zhengrui, Dupont, Kyle, McGoldrick, Philip, Weichert, Anna , McKeever, Paul M. , Schneider, Raphaël , McCorkindale, Michael D, Manzoni, Claudia , Rademakers, Rosa , Graff, Caroline , Parisi, Joseph E., Petersen, Ronald C., Miller, Bruce L. , Rooij, Jeroen van , Pijnenburg, Yolande A.L. , Zee, Julie van der, Broeckhoven, Christine Van , Ber, Isabelle Le , Deerlin, Vivianna Van, Suh, EunRan , Rohrer, Jonathan D. , Mead, Simon , Öijerstedt, Linn , Pickering‐Brown, Stuart , Rollinson, Sara, Rossi, Giacomina , Tagliavini, Fabrizio , Brooks, William S. , Dobson‐Stone, Carol , Halliday, Glenda M. , Hodges, John R. , Piguet, Olivier , Binetti, Giuliano , Benussi, Luisa , Ghidoni, Roberta , Sorbi, Sandro , Bruni, Amalia C. , Galimberti, Daniela , Rainero, Innocenzo , Rubino, Elisa , Lleó, Alberto, Ruiz, Agustı́n , Hernández, Isabel, Pástor, Pau , Díez-Fairén, Mónica , Borroni, Barbara , Pasquier, Florence , Deramecourt, Vincent , Lebouvier, Thibaud , Perneczky, Robert , Diehl‐Schmid, Janine , Huey, Edward D. , Mayeux, Richard , Nalls, Michael A., Hernandez, Dena G., Singleton, Andrew B., Momeni, Parastoo, Zeng, Zhen , Hardy, John , Zinman, Lorne , Nalls, Michael A., Ramasamy, Adaikalavan , Hodges, John R. , Bartley, Lauren, Hernández, Isabel, Boada, Merçé , Padovani, Alessandro , Cairns, Nigel J. , Serpente, María , Scarpini, Elio, Blesa, Rafael , ouml, Maria Landqvist Wald, Nilsson, Karin , Mackenzie, Ian R. , Hsiung, Ging‐Yuek Robin , Attems, Johannes , Pietrini, Pietro , Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Razquín, Cristina , Ortega‐Cubero, Sara , Alonso, Elena, Alexopoulos, Panagiotis , Kurz, Alexander , Pinessi, Lorenzo , Rogaeva, Ekaterina, Giaccone, Giorgio , Rowe, James B. , Uphill, James, Collinge, John, Danek, Adrian , Deerlin, Vivianna M Van, Grossman, Murray, Trojanowski, John Q. , Leber, Isabelle, Hannequin, Didier , Golfier, Véronique, Vercelletto, Martine, Brice, Alexis , Nacmias, Benedetta, Bagnoli, Silvia , Hjermind, Lena E. , Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Fox, Nick C. , Warren, Jason D. , Spillantini, Maria Grazia , Rizzu, Patrizia , Heutink, Peter , Snowden, Julie S. , Richardson, Anna , Maletta, Raffaele , Frangipane, Francesca, Bernardi, Livia , Conidi, Maria Elena, Smirne, Nicoletta , Rademakers, Rosa, Baker, Matt , Petersen, Ronald , Knopman, David, Josephs, Keith A. , Miller, Bruce L., Karydas, Anna M., Rosen, Howard J., Scheltens, Philip , Logroscino, Giancarlo , Capozzo, Rosa , Novelli, Valeria , Franceschi, M. , Postiglione, Alfredo, Milan, Graziella , Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Rollin, Adeline, Deramecourt, Vincent, Kapogiannis, Dimitrios , Waldö, Maria Landqvist , Halliday, Glenda , Logroscino, Giancarlo , Rowe, James B , Hsiung, Gink-Yuek , Miller, Bruce L , Hardy, John , Scheltens, Philip , Rohrer, Jonathan D , Fox, Nick C , Padovani, Alessandro , Ruiz, Agustín , Pastor, Pau , Boada, Merce , Tartaglia, Maria Carmela , Pasquier, Florence , Brooks, William , McGoldrick, Philip , McCorkindale, Michael , Dickson, Dennis W. , Boeve, Bradley F. , Seeley, William W. , Swieten, John C. van , Zee, Julie van der , Deerlin, Vivianna M. Van , Nacmias, Benedetta , Scarpini, Elio , Clarimón, Jordi , Lleó, Alberto , Grafman, Jordan Henry , Robertson, Janice , Rogaeva, Ekaterina A. , Kwok, John B. , Schofield, Peter R. , Thompson, Elizabeth A. , Cruchaga, Carlos , Forloni, Gianluigi , Albani, Diego , Fenoglio, Chiara , Nilsson, Christer, Mann, David , Morris, Christopher M. , Griffiths, Timothy David , McKeith, Ian G. , Thomas, Alan , Wassermann, Eric M. , Tierney, Michael C, George‐Hyslop, Peter St , Schlachetzki, Johannes C. M. , Cappa, Stefano F. , Piaceri, Irene , Nielsen, Jørgen Erik , Riemenschneider, Markus J. , Gu, Wei , Rossor, Martin N. , Morris, Huw R. , Gerhard, Alexander , Cupidi, Chiara , Anfossi, Maria , Gallo, Maura , Dopper, Elise G.P. , Seelaar, Harro , Puca, Annibale Alessandro , Franceschi, Massimo, Chiang, Huei‐Hsin, Ferrucci, Luigi , Brice, Alexis , Rainero, Innocenzo , Galimberti, Daniela , Pijnenburg, Yolande A L , Lebouvier, Thibaud , Graff, Caroline , Borroni, Barbara
Brain | August 31, 2018 | Volume: 141 | Issue: 10 | Pages: 2895-2907
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease
Schott, Jonathan M. , Crutch, Sebastian J. , Carrasquillo, Minerva M., Uphill, James, Shakespeare, Timothy J. , Ryan, Natalie S. , Yong, Keir , Lehmann, Manja , Ertekin‐Taner, Nilüfer , Graff‐Radford, Neill R., Murray, Melissa E. , Khan, Qurat ul Ain , Petersen, Ronald C., Rabinovici, Gil D. , González, Aida Suárez, Gil-Néciga, E, Snowden, Julie S. , Pickering‐Brown, Stuart , Louwersheimer, Eva, Flier, Wiesje M. van der , Scheltens, Philip , Pijnenburg, Yolande A.L. , Galasko, Douglas, Sarazin, Marie , Dubois, Bruno , Magnin, Éloi , Galimberti, Daniela , Scarpini, Elio , Cappa, Stefano F. , Hodges, John R. , Halliday, Glenda M. , Bartley, Lauren, Carrillo, María C. , Brás, José , Hardy, John , Rossor, Martin N. , Collinge, John, Fox, Nick C. , Mead, Simon , Carrasquillo, Minerva M. , Graff‐Radford, Neill R. , Boeve, Bradley F. , Dickson, Dennis W. , Knopman, David S. , Miller, Bruce L. , Gonzalez, Aida Suarez , Harris, Jenny , Halliday, Glenda , Murray, Melissa E , Hardy, John , van der Flier, Wiesje M , Scheltens, Philip , Fox, Nick C , Yong, Keir X X , Rabinovici, Gil D , Schott, Jonathan M , Galimberti, Daniela , Pijnenburg, Yolande A L
Alzheimer's & Dementia | March 15, 2016 | Volume: 12 | Issue: 8 | Pages: 862-871
AbstractIntroductionThe genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain.MethodsWe genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome‐wide association study.ResultsWe confirm that variation in/near APOE/TOMM40 (P = 6 × 10−14) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). We found evidence for risk in/near CR1 (P = 7 × 10−4), ABCA7 (P = .02) and BIN1 (P = .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD. Exploratory genome‐wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 (P = 8 × 10−10 OR = 1.9 [1.5–2.3]); rs72907046 near FAM46A (P = 1 × 10−9 OR = 3.2 [2.1–4.9]); and rs2525776 near SEMA3C (P = 1 × 10−8, OR = 3.3 [2.1–5.1]).DiscussionWe provide evidence for genetic risk factors specifically related to PCA. We identify three candidate loci that, if replicated, may provide insights into selective vulnerability and phenotypic diversity in AD.
F2‐03‐04: Genetic risk factors for posterior cortical atrophy
Carrasquillo, Minerva M. , Uphill, James, Ryan, Natalie S. , Lehmann, Manja , Taner, Nilüfer, Graff-Radford, N. R., Ain, Khan Qurat ul, Petersen, Ronald C. , González, Aida Suárez, Gil-Néciga, E, Louwersheimer, Eva, Galasko, Douglas, Sarazin, Marie , Dubois, Bruno , Hodges, John R. , Halliday, Glenda M. , Bartley, Lauren, Hardy, John , Collinge, John , Mead, Simon , Schott, Jonathan M. , Crutch, Sebastian J. , Carrasquillo, Minerva M. , Shakespeare, Timothy J. , Boeve, Bradley F. , Murray, Melissa E. , Dickson, Dennis W. , Knopman, David S. , Rabinovici, Gil D. , Gonzalez, Aida Suarez , Snowden, Julie S. , Harris, Jenny , Pickering‐Brown, Stuart , Flier, Wiesje M. van der , Scheltens, Philip , Pijnenburg, Yolande A.L. , Magnin, Éloi , Galimberti, Daniela , Scarpini, Elio , Cappa, Stefano F. , Brás, José , Rossor, Martin N. , Fox, Nick C. , Halliday, Glenda , Hardy, John
Alzheimer's & Dementia | December 15, 2015 | Volume: 11 | Issue: 7S_Part_3 | Pages: No page available
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
Houlden, Henry , Baker, Mary V. , Morris, Huw R. , Pickering‐Brown, Stuart , Rossor, Martin N. , Quinn, Niall , Kertesz, Andrew , Khan, M. Nadeem , Hardy, John , Lantos, P. L., Mann, D.M.A. , Lang, Anthony E. , Bergeron, C. , Bigio, Eileen H. , Litvan, Irene , Wood, Nicholas , Hutton, M. , Macdonald, Neil , Adamson, Joy , Lees, Andrew John , George‐Hyslop, Peter St , Muñoz, David G. , Bhatia, Kailash P. , Dickson, Dennis W. , Lang, Anthony E , Hardy, John , Litvan, Irene , Houlden, Henry , Morris, Huw R , Wood, Nicholas
Neurology | May 14, 2012 | Volume: 56 | Issue: 12 | Pages: 1702-1706
P3–151: Investigations into the genetic cause of Chr17q21–linked tau negative frontotemporal dementia
Baker, Matt , Mackenzie, Ian R. , Hutton, Mike, Pickering‐Brown, Stuart
Alzheimer's & Dementia | August 17, 2006 | Volume: 2 | Issue: 3S_Part_14 | Pages: No page available