Citations 7
Associations of lifestyle factors with amyloid pathology in persons without dementia
Oomens, Julie Elisabeth , Vos, Stephanie J. B. , Maserejian, Nancy N., Didic, Mira , Engelborghs, Sebastiaan , Fladby, Tormod, Fröhlich, Lutz, Gill, Kiran Dip, Grimmer, Timo, Itoh, Yoshiaki , Landau, Susan, Lleó, Alberto, Meyer, Philipp T. , Pardini, Matteo , Rami, Lorena , Reiman, Eric M. , Rinne, Juha O. , Sánchez‐Juan, Pascual, Scarmeas, Nikolaos , Villeneuve, Sylvia , Waldemar, Gunhild , Alcolea, Daniel, Altomare, Daniele , Baldeiras, Inês , Blennow, Kaj , Cerman, Jiří , Chipi, Elena , Day, Gregory S. , Förster, Stefan , Frings, Lars , Guedj, Éric , Habeck, Christian , Hausner, Lucrezia , Jiménez‐Bonilla, J., Juaristi, Arantxa, Kern, Silke , Kirsebom, Bjørn‐Eivind , Legdeur, Nienke , Xiong, Chengjie , Maier, W., Marquié, Marta, Minatani, Shinobu, Prabhakar, Sudesh, Ramakers, Inez H.G.B. , Rodríguez‐Rodríguez, Eloy , Ruiz, Agustín, Rüther, E., Sakhardande, Jayant, Selnes, Per, Spiru, Luiza , Vermunt, Lisa , Wallin, Åsa K., Zettergren, Anna , (ADNI), for the Alzheimer's Disease Neuroimaging Initiative, group, A4 Study, (DIAN), Dominantly Inherited Alzheimer Network, (KBASE), Japan Alzheimer's Disease Neuroimaging Initiative (J-ADNI), Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease, Ossenkoppele, Rik, Verhey, Frans RJ, Visser, Pieter Jelle, Jansen, Willemijn J, Marquié, Marta , Selnes, Per , Day, Gregory S , Xiong, Chengjie , Oomens, Julie E , Boada, Merçé , Fladby, Tormod , Flier, Wiesje M. van der , Frisoni, Giovanni B. , Fröhlich, Lutz, Grimmer, Timo , Hort, Jakub , Iwatsubo, Takeshi , Klimkowicz‐Mrowiec, Aleksandra , Lee, Dong Young , Lleó, Alberto , Martínez‐Lage, Pablo , Mendonça, Alexandre de , Parchi, Piero , Parnetti, Lucilla , Popp, Julius , Rodrigue, Karen M. , Santana, Isabel , Scheltens, Philip , Skoog, Ingmar , Sperling, Reisa Anne , Stern, Yaakov , Wiltfang, Jens , Zetterberg, Henrik , Alcolea, Daniel , Allegri, Ricardo , Bateman, Randall J. , Baiardi, Simone , Braber, Anouk den , Buchem, Mark A. van , Byun, Min Soo , Chen, Kewei , Drzezga, Alexander E. , Ekblad, Laura L. , Fortea, Juan , Freund‐Levi, Yvonne , Handels, Ron , Hellwig, Sabine , Kandimalla, Ramesh , Kornhuber, Johannes , Morbelli, Silvia , Mroczko, Barbara , Ntanasi, Eva , Oliveira, Catarina Resende , Orellana, Adelina , Peters, Oliver , Ruiz, Agustı́n , Silva, Dina , Soininen, Hilkka S. , Takeda, Akitoshi , Teunissen, Charlotte E. , Tijms, Betty M. , Wiels, Wietse A. , Yannakoulia, Mary , Yi, Dahyun , (ADNI), for the Alzheimer's Disease Neuroimaging Initiative, group, A4 Study, (DIAN), Dominantly Inherited Alzheimer Network, (KBASE), Japan Alzheimer's Disease Neuroimaging Initiative (J-ADNI), Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease, Ossenkoppele, Rik, Verhey, Frans R.J. , Visser, Pieter Jelle , Jansen, Willemijn J.
Journal of Alzheimer’s Disease | November 14, 2025 | Volume: 108 | Issue: 3 | Pages: 1043-1059
Background The association between lifestyle factors and Alzheimer's disease (AD) pathophysiology remains incompletely understood. Objective The aim of this study was to assess the association of alcohol consumption, smoking behavior, sleep quality and physical, cognitive, and social activity with cerebral amyloid pathology. Methods For this cross-sectional study, we selected participants from the Amyloid Biomarker Study data pooling initiative. We used generalized estimating equations to assess associations of dichotomized lifestyle measures with amyloid pathology. Results We included 9171 participants with normal cognition (NC) and 2555 participants with mild cognitive impairment (MCI) from the Amyloid Biomarker Study. Of participants with NC, 58% were women, 34% were APOE ε4 carrier, and 27% had amyloid pathology. Of participants with MCI, 48% were women, 47% were APOE ε4 carrier, and 57% had amyloid pathology. In NC, cognitively active participants were less likely to have amyloid pathology (OR = 0.77, 95%CI 0.66–0.89, p < 0.001). In MCI, participants who had ever smoked or had sleep problems were less likely to have amyloid pathology (OR = 0.85, 95%CI 0.73–0.99, p = 0.029; OR = 0.62, 95%CI 0.45–0.86, p = 0.004). Conclusions In NC, cognitive activity was associated with a lower frequency of amyloid pathology. In MCI, favorable lifestyle behaviors were not associated with a lower frequency of amyloid pathology. The results of the current study contribute to the broader evidence base on lifestyle and AD by further characterizing the role of lifestyle behaviors in AD pathology across different clinical stages.
Depressive Symptoms and Amyloid Pathology
Oomens, Julie Elisabeth , Engelborghs, Sebastiaan , Arnim, Christine A. F. Von , Boada, Merçé , Didic, Mira , Dubois, Bruno, Fröhlich, Lutz, Gill, Kiran Dip, Grimmer, Timo, Hildebrandt, Helmut , Itoh, Yoshiaki , Lee, Dong Young , Lleó, Alberto, Meyer, Philipp T. , Kapaki, Elisabeth, Pardini, Matteo , Popp, Julius , Rami, Lorena , Reiman, Eric M. , Rinne, Juha O. , Sánchez‐Juan, Pascual, Sarazin, Marie , Scarmeas, Nikolaos , Villeneuve, Sylvia , Wallin, Anders, Vos, Stephanie J. B. , Jansen, Willemijn J. , group, Amyloid Biomarker Study, Altomare, Daniele , Baldeiras, Inês , Blennow, Kaj, Braber, Anouk den , Cerman, Jiří , Chipi, Elena , Eckerström, Marie , Ekblad, Laura L. , Förster, Stefan , Guedj, Éric , Hausner, Lucrezia , Huey, Edward D. , Jiménez‐Bonilla, J., Johnson, Keith A. , Juaristi, Arantxa, Kern, Silke , Kirsebom, Bjørn‐Eivind , Landau, Susan , Legdeur, Nienke , Guerra, Jorge J. Llibre, Maserejian, Nancy N., Marquié, Marta , Minatani, Shinobu, Olivieri, Pauline , Perrin, Richard J., Peters, Oliver , Prabhakar, Sudesh, Ramakers, Inez H., Rodríguez‐Rodríguez, Eloy , Ruiz, Agustín, Rüther, E., Selnes, Per , Spiru, Luiza , Takeda, Akitoshi , Teichmann, Marc , Thompson, Loisa I., Vogelgsangs, Jonathan, Wallin, Åsa K., Zettergren, Anna , Frisoni, Giovanni B. , Boada, Merce , Oomens, Julie E , Bottlaender, Michel , Wiels, Wietse A. , Baeken, Chris , Dubois, Bruno , Fladby, Tormod , Flier, Wiesje M. van der , Frisoni, Giovanni B. , Fröhlich, Lutz, Grimmer, Timo , Hort, Jakub , Iwatsubo, Takeshi , Klimkowicz‐Mrowiec, Aleksandra , Lleó, Alberto , Martínez‐Lage, Pablo , Mendonça, Alexandre de , Parchi, Piero , Parnetti, Lucilla , Rodrigue, Karen M. , Santana, Isabel , Skoog, Ingmar , Snyder, Peter J. , Sperling, Reisa Anne , Wiltfang, Jens , Zetterberg, Henrik , Ossenkoppele, Rik , Verhey, Frans R.J. , Visser, Pieter Jelle , Alcolea, Daniel , Baiardi, Simone , Bateman, Randall J. , Blennow, Kaj , Buchem, Mark A. van , Byun, Min Soo , Chen, Kewei , Day, Gregory S. , Drzezga, Alexander E. , Epelbaum, Stéphane , Fortea, Juan , Freund‐Levi, Yvonne , Frings, Lars , Hellwig, Sabine , Kandimalla, Ramesh , Paraskevas, George P. , Kornhuber, Johannes , Lagarde, Julien , Morbelli, Silvia , Mroczko, Barbara , Ntanasi, Eva , Oliveira, Catarina Resende , Olivieri, Pauline , Orellana, Adelina , Ruiz, Agustı́n , Silva, Dina , Soininen, Hilkka S. , Tijms, Betty M. , Teunissen, Charlotte E. , Vöglein, Jonathan , Waldemar, Gunhild , Yannakoulia, Mary , Yi, Dahyun
JAMA Psychiatry | January 22, 2025 | Volume: 82 | Issue: 3 | Pages: 296
10.1001/jamapsychiatry.2024.4305
Importance Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology. Objective To examine the association between depressive symptoms and amyloid pathology and its dependency on age, sex, education, and APOE genotype in older individuals without dementia. Design, Setting, and Participants Cross-sectional analyses were performed using data from the Amyloid Biomarker Study data pooling initiative. Data from 49 research, population-based, and memory clinic studies were pooled and harmonized. The Amyloid Biomarker Study has been collecting data since 2012 and data collection is ongoing. At the time of analysis, 95 centers were included in the Amyloid Biomarker Study. The study included 9746 individuals with normal cognition (NC) and 3023 participants with mild cognitive impairment (MCI) aged between 34 and 100 years for whom data on amyloid biomarkers, presence of depressive symptoms, and age were available. Data were analyzed from December 2022 to February 2024. Main Outcomes and Measures Amyloid-β1-42 levels in cerebrospinal fluid or amyloid positron emission tomography scans were used to determine presence or absence of amyloid pathology. Presence of depressive symptoms was determined on the basis of validated depression rating scale scores, evidence of a current clinical diagnosis of depression, or self-reported depressive symptoms. Results In individuals with NC (mean [SD] age, 68.6 [8.9] years; 5664 [58.2%] female; 3002 [34.0%] APOE ε4 carriers; 937 [9.6%] had depressive symptoms; 2648 [27.2%] had amyloid pathology), the presence of depressive symptoms was not associated with amyloid pathology (odds ratio [OR], 1.13; 95% CI, 0.90-1.40; P = .29). In individuals with MCI (mean [SD] age, 70.2 [8.7] years; 1481 [49.0%] female; 1046 [44.8%] APOE ε4 carriers; 824 [27.3%] had depressive symptoms; 1668 [55.8%] had amyloid pathology), the presence of depressive symptoms was associated with a lower likelihood of amyloid pathology (OR, 0.73; 95% CI 0.61-0.89; P = .001). When considering subgroup effects, in individuals with NC, the presence of depressive symptoms was associated with a higher frequency of amyloid pathology in APOE ε4 noncarriers (mean difference, 5.0%; 95% CI 1.0-9.0; P = .02) but not in APOE ε4 carriers. This was not the case in individuals with MCI. Conclusions and Relevance Depressive symptoms were not consistently associated with a higher frequency of amyloid pathology in participants with NC and were associated with a lower likelihood of amyloid pathology in participants with MCI. These findings were not influenced by age, sex, or education level. Mechanisms other than amyloid accumulation may commonly underlie depressive symptoms in late life.
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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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.
Unique genetic architecture of CSF and brain metabolites pinpoints the novel targets for the traits of human wellness
Wang, Ciyang , Western, Daniel , Yang, Chengran , Wang, Lihua , Gorijala, Priyanka , Ruiz, Agustı́n , Pástor, Pau , Fernández, María Victoria , Deming, Yuetiva, Mori, Hiroshi , Perrin, Richard J. , Sung, Yun Ju , Network, Dominantly Inherited Alzheimer, Initiative, Alzheimer’s Disease Neuroimaging, Western, Dan , Ruiz, Agustín , Pastor, Pau , Fernandez, Maria , Panyard, Daniel , Deming, Yuetiva , Boada, Merce , García-González, Pablo , Perrin, Richard , Cruchaga, Carlos , Ali, Muhammad , Timsina, Jigyasha , Engelman, Corinne D. , Boada, Merçé , Cano, Amanda C. , García‐González, Pablo , Graff, Caroline , Lee, Jae‐Hong
No container title available | June 9, 2023 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Brain metabolism perturbation can contribute to traits and diseases. We conducted the first large-scale CSF and brain genome-wide association studies, which identified 219 independent associations (59.8% novel) for 144 CSF metabolites and 36 independent associations (55.6% novel) for 34 brain metabolites. Most of the novel signals (97.7% and 70.0% in CSF and brain) were tissue specific. We also integrated MWAS-FUSION approaches with Mendelian Randomization and colocalization to identify causal metabolites for 27 brain and human wellness phenotypes and identified eight metabolites to be causal for eight traits (11 relationships). Low mannose level was causal to bipolar disorder and as dietary supplement it may provide therapeutic benefits. Low galactosylglycerol level was found causal to Parkinson’s Disease (PD). Our study expanded the knowledge of MQTL in central nervous system, provided insights into human wellness, and successfully demonstrates the utility of combined statistical approaches to inform interventions.
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
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.
S1‐01‐02: Genome‐wide association studies using prospective cohorts: The CHARGE consortium
Fitzpatrick, Annette L., Younkin, Steven G., Wolf, Philip A. , Carrasquillo, Minerva M., DeStefano, Anita L. , Seshadri, Sudha , Ikram, M. Arfan , Guðnason, Vilmundur , Boada, Merçé , Williams, Julie , Amouyel, Philippe , Launer, Lenore J. , López, Oscar L. , Duijn, Cornelia M. van , Breteler, Monique M.B. , Lambert, Jean‐Charles , Harold, Denise , Ruiz, Agustı́n
Alzheimer's & Dementia | August 1, 2011 | Volume: 7 | Issue: 4S_Part_2 | Pages: No page available