Citations 8
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.
Association of Polygenic Score and the involvement of Cholinergic and Glutamatergic Pathways with Lithium Treatment Response in Patients with Bipolar Disorder
Amare, Azmeraw T. , Thalamuthu, Anbupalam , Schubert, Klaus Oliver , Fullerton, Janice M. , Heilbronner, Urs , Hsu, Yi‐Hsiang , Shekhtman, Tatyana , Adli, Mazda , Akula, Nirmala , Akiyama, Kazufumi , Ardau, Raffaella , Aubry, Jean‐Michel , Bhattacharjee, Abesh Kumar, Benabarre, Antoni, Bengesser, Susanne , Birner, Armin , Cervantes, Pablo , Chillotti, Caterina , Cichon, Sven , Cruceanu, Cristiana , Dalkner, Nina , Zompo, Maria Del , Forstner, Andreas J. , Frisén, Louise , Frye, Mark A. , Gard, Sébastien, Fallgatter, Andreas J. , Stegmaier, Sophia, Biere, Silvia, Petrova, Kristiyana, Schuster, Ceylan, Heilbronner, Maria , Kálmán, János , Kohshour, Mojtaba Oraki , Schaupp, Sabrina K. , Senner, Fanny , Vogl, Thomas , Anghelescu, Ion‐George , Arolt, Volker , Dietrich, Detlef E. , Figge, Christian, Jäger, Markus , Juckel, Georg , Reimer, Jens , Schmauß, Max, Konrad, Carsten , Hagen, Martin von, Zimmermann, Jörg, Andlauer, Till F. M. , Bermpohl, Felix , Kraft, Vivien , Gryaznova, Anna, Yildiz, Cüneyt , Kircher, Tilo , Gade, Katrin , Trost, Sarah , Lambert, Martin , Rohenkohl, Anja , Grof, Paul , Kahn, Jean‐Pierre, Kassem, Layla, Kittel‐Schneider, Sarah , Ferensztajn‐Rochowiak, Ewa , Laje, Gonzalo, Landén, Mikael , Lavebratt, Catharina , Leckband, Susan G. , McCarthy, Michael J. , Mitjans, Marina , Mondimore, Francis M. , Nöthen, Markus M. , O’Donovan, Claire , Pisanu, Claudia , Potash, James B. , Schalling, Martin , Schweizer, Barbara , Severino, Giovanni , Shilling, Paul D. , Shimoda, Kazutaka , Simhandl, Christian , Slaney, Claire , Stamm, Thomas , Maj, Mario , Vieta, Eduard , Veeh, Julia, Witt, Stephanie H. , Zandi, Peter P. , Bauer, Michael , Clark, Scott R. , Amare, Azmeraw , Fullerton, Janice M , Papiol, Sergi , Heilbronner, Urs , Biernacka, Joanna , Marie-Claire, Cynthia , Chen, Hsi-Chung , Cichon, Sven , Cruceanu, Cristiana , Czerski, Piotr , Del Zompo, Maria , Etain, B , Jamain, Stéphane , Forstner, Andreas J , Frye, Mark , Garnham, Julie , Goes, Fernando , Grigoroiu-Serbanescu, Maria , Kalman, Janos , Schulte, Eva , Wiltfang, Jens , Andlauer, Till , Kraft, Vivien , Hauser, Joanna , Kuo, Po-Hsiu , Kittel-Schneider, Sarah , Kusumi, Ichiro , Landén, Mikael , Lavebratt, Catharina , Leboyer, Marion , Tortorella, Alfonso , McCarthy, Michael , Nöthen, Markus M , Novak, Tomas , Pisanu, Claudia , Reif, Andreas , Reininghaus, Eva , Rouleau, Guy Armand , Schalling, Martin , Schofield, Peter R , Severino, Giovanni , Shimoda, Kazutaka , Squassina, Alessio , Stopkova, Pavla , Turecki, Gustavo , Vieta, E , Witt, Stephanie H , Zandi, Peter P , Alda, Martin , Rietschel, Marcella , McMahon, Francis , Millischer, Vincent , Clark, Scott , Thalamuthu, Anbupalam , Kircher, Tilo T J , Schubert, Klaus Oliver , Mitjans, Marina , Ahmed, Muktar Beshir , Hartmann, Simon , Papiol, Sergi , Degenhardt, Franziska , Tekola‐Ayele, Fasil , Hou, Liping , Arias, Bárbara , Backlund, Lena , Bellivier, Frank , Benabarre, Antoni , Biernacka, Joanna M. , Chen, Hsi‐Chung , Czerski, Piotr M. , Dalkner, Nina , DePaulo, J Raymond , Étain, Bruno , Jamain, Stéphane , Falkai, Peter , Grigoroiu‐Serbânescu, Maria , Ethofer, Thomas , Adorjan, Kristina , Budde, Monika , Reich‐Erkelenz, Daniela , Schulte, Eva C. , Dannlowski, Udo , Lang, Fabian U. , Spitzer, Carsten , Schmitt, Andrea , Wiltfang, Jens , Zimmermann, Jörg , Fischer, André , Matura, Silke , Gryaznova, Anna, Falkenberg, Irina , Schmidt, Julia Katharina , Koch, Marius, Haussleiter, Ida Sibylle , Hashimoto, Ryota , Herms, Stefan , Hoffmann, Per , Jiménez, Esther , Kuo, Po‐Hsiu , Kato, Tadafumi , Kelsoe, John R , König, Barbara , Leboyer, Marion , Tortorella, Alfonso , Manchia, Mirko , Martinsson, Lina , McElroy, Susan L. , Colom, Francesc , Monteleone, Palmiero , Nievergelt, Caroline M , Novák, Tomáš , Ozaki, Norio , Pfennig, Andrea , Reif, Andreas , Rybakowski, Janusz K , Schofield, Peter R. , Squassina, Alessio , Stopková, Pavla , Turecki, Gustavo , Wright, Adam, Mitchell, Philip B , Alda, Martin , McMahon, Francis J. , Schulze, Thomas , Baune, Bernhard
No container title available | February 14, 2023 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li+PGS) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li+PGS was developed in the International Consortium of Lithium Genetics cohort (ConLi+Gen: N=2,367) and replicated in the combined PsyCourse (N=89) and BipoLife (N=102) studies. The associations of Li+PGS and lithium treatment response — defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P<����������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������
Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study
Kálmán, János , Papiol, Sergi , Forstner, Andreas J. , Heilbronner, Urs , Degenhardt, Franziska , Adli, Mazda , Adorjan, Kristina , Akula, Nirmala , Alda, Martin , Anderson‐Schmidt, Heike , Andlauer, Till F. M. , Anghelescu, Ion‐George , Ardau, Raffaella , Arias, Bárbara , Arolt, Volker , Aubry, Jean‐Michel , Bartholdi, Kim, Bauer, Michael , Benabarre, Antonio , Bengesser, Susanne , Bhattacharjee, Abesh Kumar, Birner, Armin , Brichant‐Petitjean, Clara, Cervantes, Pablo , Chillotti, Caterina , Cichon, Sven , Clark, Scott R. , Comes, Ashley L. , Cruceanu, Cristiana , Czerski, Piotr M. , Zompo, Maria Del , Dietrich, Detlef E. , Étain, Bruno , Ethofer, Thomas , Falkai, Peter , Fallgatter, Andreas J. , Figge, Christian, Flatau, Laura , Folkerts, Here, Frisén, Louise , Frye, Mark A. , Fullerton, Janice M. , Gade, Katrin , Gard, Sébastien, Grigoroiu‐Serbânescu, Maria , Gryaznova, Anna, Hake, Maria, Jäger, Markus , Jamain, Stéphane , Jiménez, Esther , Juckel, Georg , Kahn, Jean‐Pierre, Kassem, Layla, Kittel‐Schneider, Sarah , Kliwicki, Sebastian , Klohn‐Sagatholislam, Farah, Köller, Manfred , Konrad, Carsten , Lackner, Nina , Laje, Gonzalo, Landén, Mikael , Lavebratt, Catharina , Leboyer, Marion , Leckband, Susan G. , Maj, Mario , Manchia, Mirko , Martinsson, Lina , McCarthy, Michael J. , McMahon, Francis J. , Mitjans, Marina , Mondimore, Francis M. , Nieratschker, Vanessa , Novák, Tomáš , Ösby, Urban, Potash, James B. , Reich‐Erkelenz, Daniela , Reif, Andreas , Reimer, Jens , Reininghaus, Eva Z. , Reitt, Markus , Ripke, Stephan , Schalling, Martin , Scherk, Harald, Schmauß, Max, Schubert, Klaus Oliver , Schulte, Eva C. , Schulz, Sybille, Senner, Fanny , Severino, Giovanni , Shekhtman, Tatyana , Shilling, Paul D. , Simhandl, Christian , Slaney, Claire , Stamm, Thomas , Stegmaier, Sophia, Stierl, Sebastian, Stopková, Pavla , Thiel, Andreas , Tighe, Sarah K., Tortorella, Alfonso , Turecki, Gustavo , Vieta, Eduard , Veeh, Julia, Hagen, Martin von, Wigand, Moritz E. , Wiltfang, Jens , Zandi, Peter P. , Zimmermann, Jörg , Heilbronner, Maria , Etain, B , Vieta, E , Cichon, Sven , Alda, Martin , Ripke, Stephan , Fullerton, Janice M , Strohmaier, Jana , Aubry, Jean‐Michel , Backlund, Lena , Baune, Bernhard , Becker, Thomas M , Bellivier, Frank , Biernacka, Joanna M. , Budde, Monika , Colom, Francesc , Dannlowski, Udo , Dayer, Alexandre G. , DePaulo, J Raymond , Garnham, Julie , Goes, Fernando , Gryaznova, Anna, Hauser, Joanna , Herms, Stefan , Hoffmann, Per , Hou, Liping , Kelsoe, John R , Klöhn-Sagatholislam, Farahnaz, König, Barbara , Lang, Fabian U. , McElroy, Susan L. , Mitchell, Philip B , Monteleone, Palmiero , Nievergelt, Caroline M , Pfennig, Andrea , Reininghaus, Eva , Rouleau, Guy Armand , Rybakowski, Janusz K , Schofield, Peter R. , Spitzer, Carsten , Squassina, Alessio , Witt, Stephanie H. , Wright, A. Jordan , Nöthen, Markus M. , Rietschel, Marcella , Schulze, Thomas , Papiol, Sergi , Heilbronner, Urs , Cruceanu, Cristiana , Czerski, Piotr , Jamain, Stéphane , Grigoroiu-Serbanescu, Maria , Kalman, Janos , Schulte, Eva , Wiltfang, Jens , Andlauer, Till , Kittel-Schneider, Sarah , Lavebratt, Catharina , Leboyer, Marion , Tortorella, Alfonso , McCarthy, Michael , Novak, Tomas , Reif, Andreas , Stopkova, Pavla , Turecki, Gustavo , McMahon, Francis , Arias, Bárbara , Schubert, Klaus Oliver , Mitjans, Marina , Manchia, Mirko
Bipolar Disorders | June 28, 2018 | Volume: 21 | Issue: 1 | Pages: 68-75
Objectives Bipolar disorder (BD) with early disease onset is associated with an unfavorable clinical outcome and constitutes a clinically and biologically homogenous subgroup within the heterogeneous BD spectrum. Previous studies have found an accumulation of early age at onset (AAO) in BD families and have therefore hypothesized that there is a larger genetic contribution to the early‐onset cases than to late onset BD. To investigate the genetic background of this subphenotype, we evaluated whether an increased polygenic burden of BD‐ and schizophrenia (SCZ)‐associated risk variants is associated with an earlier AAO in BD patients. Methods A total of 1995 BD type 1 patients from the Consortium of Lithium Genetics (ConLiGen), PsyCourse and Bonn‐Mannheim samples were genotyped and their BD and SCZ polygenic risk scores (PRSs) were calculated using the summary statistics of the Psychiatric Genomics Consortium as a training data set. AAO was either separated into onset groups of clinical interest (childhood and adolescence [≤18 years] vs adulthood [>18 years]) or considered as a continuous measure. The associations between BD‐ and SCZ‐PRSs and AAO were evaluated with regression models. Results BD‐ and SCZ‐PRSs were not significantly associated with age at disease onset. Results remained the same when analyses were stratified by site of recruitment. Conclusions The current study is the largest conducted so far to investigate the association between the cumulative BD and SCZ polygenic risk and AAO in BD patients. The reported negative results suggest that such a polygenic influence, if there is any, is not large, and highlight the importance of conducting further, larger scale studies to obtain more information on the genetic architecture of this clinically relevant phenotype.
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
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry
Lewczuk, Piotr , Riederer, Peter , Verbeek, Marcel M. , Dubois, Bruno , Visser, Pieter Jelle , Engelborghs, Sebastiaan , Ramı́rez, Alfredo , Parnetti, Lucilla , Jack, Clifford R. , Teunissen, Charlotte E. , Hampel, Harald , Lleó, Alberto , Jessen, Frank , Glodzik, Lidia , Leon, Mony J. de , Fagan, Anne M. , Molinuevo, José Luís , Jansen, Willemijn J. , Winblad, Bengt , Shaw, Leslie M. , Andréasson, Ulf , Otto, Markus , Mollenhauer, Brit , Wiltfang, Jens , Turner, Martin R. , Zerr, Inga , Handels, Ron , Thompson, Alexander G. , Johansson, Gunilla , Ermann, Natalia, Trojanowski, John Q. , Karaca, Ilker, Wagner, Holger, Oeckl, Patrick , Doorn, Linda van Waalwijk van, Bjerke, Maria , Kapogiannis, Dimitrios , Kuiperij, H. Bea , Farotti, Lucia , Li, Yi , Gordon, Brian A. , Vos, Stephanie J. B. , Klijn, Catharina J.M. , Nostrand, William E. Van , Schmitz, Matthias , Gallo, Carla , Mato, Andrea Lopez, Thibaut, Florence , Lista, Simone , Alcolea, Daniel , Blennow, Kaj , Kornhuber, Johannes , Thibaut, on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence, Verbeek, Marcel M , Ramirez, Alfredo , Parnetti, Lucilla , Jack, Clifford R , Lleó, Alberto , Handels, Ron , Thompson, Alexander G , Trojanowski, John Q , Gordon, Brian A , Thibaut, Florence , Alcolea, Daniel , Kornhuber, Johannes , Teunissen, Charlotte E , Turner, Martin R , Molinuevo, José Luis , O’Bryant, Sid E. , Jellinger, Kurt , Doorn, Linda Josephine Christine van Waalwijk van, Epelbaum, Stéphane , Minguillón, Carolina , Zetterberg, Henrik , Thibaut, on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence, Wiltfang, Jens , Otto, Markus
The World Journal of Biological Psychiatry | October 27, 2017 | Volume: 19 | Issue: 4 | Pages: 244-328
A worldwide multicentre comparison of assays for cerebrospinal fluid biomarkers in Alzheimer's disease
Verwey, Nicolaas A. , Flier, Wiesje M. van der , Blennow, Kaj , Clark, Christopher M. , Sokolow, Sophie , Hartmann, Tobias , Kapaki, E. , Lannfelt, Lars , Parnetti, Lucilla , Petzold, Axel , Pirttilä, Tuula, Saleh, Lanja , Skinningsrud, Anders, Swieten, John C. van , Wiltfang, Jens , Younkin, Steve, Scheltens, Philip , Blankenstein, Marinus A. , Deyn, Peter Paul De , Galasko, Douglas , Hampel, Harald , Mehta, Pankaj D , Verbeek, Marcel M. , Parnetti, Lucilla , van der Flier, Wiesje M , Scheltens, Philip , Wiltfang, Jens , Van Swieten, John C
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine | April 23, 2009 | Volume: 46 | Issue: 3 | Pages: 235-240
Background Different cerebrospinal fluid (CSF) amyloid-beta 1–42 (A β 1–42 ), total Tau (Tau) and Tau phosphorylated at threonine 181 (P-Tau) levels are reported, but currently there is a lack of quality control programmes. The aim of this study was to compare the measurements of these CSF biomarkers, between and within centres. Methods Three CSF-pool samples were distributed to 13 laboratories in 2004 and the same samples were again distributed to 18 laboratories in 2008. In 2004 six laboratories measured A β 1–42 , Tau and P-Tau and seven laboratories measured one or two of these marker(s) by enzyme-linked immunosorbent assays (ELISAs). In 2008, 12 laboratories measured all three markers, three laboratories measured one or two marker(s) by ELISAs and three laboratories measured the markers by Luminex. Results In 2004, the ELISA intercentre coefficients of variance (interCV) were 31%, 21% and 13% for A β 1–42 , Tau and P-Tau, respectively. These were 37%, 16% and 15%, respectively, in 2008. When we restricted the analysis to the Innotest ® ( N = 13) for A β 1–42 , lower interCV were calculated (22%). The centres that participated in both years ( N = 9) showed interCVs of 21%, 15% and 9% and intra-centre coefficients (intraCV) of variance of 25%,18% and 7% in 2008. Conclusions The highest variability was found for A β 1–42 . The variabilities for Tau and P-Tau were lower in both years. The centres that participated in both years showed a high intraCV comparable to their interCV, indicating that there is not only a high variation between but also within centres. Besides a uniform standardization of (pre)analytical procedures, the same assay should be used to decrease the inter/intracentre variation.