184 results on '"Tárraga, L."'
Search Results
2. A novel Alzheimer disease locus located near the gene encoding tau protein.
- Author
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Jun, G, Ibrahim-Verbaas, CA, Vronskaya, M, Lambert, J-C, Chung, J, Naj, AC, Kunkle, BW, Wang, L-S, Bis, JC, Bellenguez, C, Harold, D, Lunetta, KL, Destefano, AL, Grenier-Boley, B, Sims, R, Beecham, GW, Smith, AV, Chouraki, V, Hamilton-Nelson, KL, Ikram, MA, Fievet, N, Denning, N, Martin, ER, Schmidt, H, Kamatani, Y, Dunstan, ML, Valladares, O, Laza, AR, Zelenika, D, Ramirez, A, Foroud, TM, Choi, S-H, Boland, A, Becker, T, Kukull, WA, van der Lee, SJ, Pasquier, F, Cruchaga, C, Beekly, D, Fitzpatrick, AL, Hanon, O, Gill, M, Barber, R, Gudnason, V, Campion, D, Love, S, Bennett, DA, Amin, N, Berr, C, Tsolaki, Magda, Buxbaum, JD, Lopez, OL, Deramecourt, V, Fox, NC, Cantwell, LB, Tárraga, L, Dufouil, C, Hardy, J, Crane, PK, Eiriksdottir, G, Hannequin, D, Clarke, R, Evans, D, Mosley, TH, Letenneur, L, Brayne, C, Maier, W, De Jager, P, Emilsson, V, Dartigues, J-F, Hampel, H, Kamboh, MI, de Bruijn, RFAG, Tzourio, C, Pastor, P, Larson, EB, Rotter, JI, O'Donovan, MC, Montine, TJ, Nalls, MA, Mead, S, Reiman, EM, Jonsson, PV, Holmes, C, St George-Hyslop, PH, Boada, M, Passmore, P, Wendland, JR, Schmidt, R, Morgan, K, Winslow, AR, Powell, JF, Carasquillo, M, Younkin, SG, Jakobsdóttir, J, Kauwe, JSK, Wilhelmsen, KC, Rujescu, D, Nöthen, MM, and Hofman, A
- Subjects
IGAP Consortium ,Chromosomes ,Human ,Pair 17 ,Humans ,Alzheimer Disease ,tau Proteins ,Polymorphism ,Single Nucleotide ,Apolipoprotein E4 ,Genome-Wide Association Study ,Alzheimer's Disease ,Prevention ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Dementia ,Human Genome ,Neurodegenerative ,Neurosciences ,Acquired Cognitive Impairment ,Genetics ,Brain Disorders ,Aging ,2.1 Biological and endogenous factors ,Neurological ,Psychiatry ,Biological Sciences ,Medical and Health Sciences ,Psychology and Cognitive Sciences - Abstract
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ɛ4+ (10 352 cases and 9207 controls) and APOE ɛ4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ɛ4 status. Suggestive associations (P
- Published
- 2016
3. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
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Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García González, P., Gil, S., Guitart, M., González Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Monté-Rubio, G., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejà, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rodríguez-Gómez, O., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sáez, M.E., Sanabria, A., Santos-Santos, M.A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Álvarez, I., Álvarez, V., Amer-Ferrer, Goo, Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Fortea, J., Franco, E., Frank-García, A., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Espinosa, Labrador, Lage, C., Legaz, A., Lleó, A., López de Munáin, A., López-García, S., Macias, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, A.B., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Piñol Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., A, Ruiz, Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vivancos, L., Moreno-Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández-Olasagarre, Begoña, Madrid, Laura, González-Perez, Antonio, Maroñas, Olalla, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez-Gómez, Octavio, Gil, Silvia, Santos-Santos, Miguel Ángel, Espinosa, Ana, Ortega, Gemma, Sanabria, Ángela, Pérez-Cordón, Alba, Cañabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Susana, Aguilera, Nuria, Pineda, Juan Antonio, Macías, Juan, Alarcón-Martín, Emilio, Sotolongo-Grau, Oscar, Marquié, Marta, Monté-Rubio, Gemma, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose Maria, Royo, José Luis, Franco, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín
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- 2019
- Full Text
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4. Correction: Genetic risk for schizophrenia and psychosis in Alzheimer disease
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DeMichele-Sweet, M. A. A., Weamer, E. A., Klei, L., Vrana, D. T., Hollingshead, D. J., Seltman, H. J., Sims, R., Foroud, T., Hernandez, I., Moreno-Grau, S., Tárraga, L., Boada, M., Ruiz, A., Williams, J., Mayeux, R., Lopez, O. L., Sibille, E. L., Kamboh, M. I., Devlin, B., and Sweet, R. A.
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- 2020
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5. Exploring APOE genotype effects on Alzheimer's disease risk and amyloid β burden in individuals with subjective cognitive decline: The FundacioACE Healthy Brain Initiative (FACEHBI) study baseline results
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Abdelnour, C., Aguilera, N., Alegret, M., Berthier, M., Boada, M., Buendia, M., Bullich, S., Campos, F., Cañabate, P., Cuevas, C., de Rojas, I., Espinosa, A., Gailhajenet, A., Diego, S., Gil, S., Giménez, J., Gismondi, R., Gómez-Chiari, M., Guitart, M., Hernández-Olasagarre, B., Hernández, I., Ibarria, M., Lafuente, A., Lomeña, F., Martín, E., Martínez, J., Mauleón, A., Monté, G., Moreno, M., Moreno-Grau, S., Núñez, L., Orellana, A., Ortega, G., Páez, A., Pancho, A., Pavía, J., Pelejà, E., Pérez-Cordon, A., Pérez-Grijalba, V., Pesini, P., Preckler, S., Rodríguez-Gómez, O., Romero, J., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sanabria, A., Sánchez-Ruiz, D., Santos-Santos, M.A., Sarasa, M., Sotolongo-Grau, O., Tárraga, L., Tejero, M.A., Torres, M., Valero, S., Vargas, L., Vivas, A., Moreno–Grau, Sonia, Rodríguez-Gómez, Octavio, Sanabria, Ángela, Pérez-Cordón, Alba, Sánchez-Ruiz, Domingo, Abdelnour, Carla, Valero, Sergi, Hernández, Isabel, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Gil, Silvia, Santos-Santos, Miguel Ángel, Alegret, Montserrat, Espinosa, Ana, Ortega, Gemma, Guitart, Marina, Gailhajanet, Anna, de Rojas, Itziar, Sotolongo-Grau, Óscar, Ruiz, Susana, Aguilera, Nuria, Papasey, Judith, Martín, Elvira, Peleja, Esther, Lomeña, Francisco, Campos, Francisco, Vivas, Assumpta, Gómez-Chiari, Marta, Tejero, Miguel Ángel, Giménez, Joan, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Ruiz, Agustín, and Boada, Mercè
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- 2018
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6. New insights into the genetic etiology of Alzheimer's disease and related dementias
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Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. A., Piñol-Ripoll, G., Pisanu, C., Polak, T., Popp, J., Posthuma, D., Priller, J., Puerta, R., Quenez, O., Quintela, I., Thomassen, J. Q., Rábano, A., Rainero, I., Rajabli, F., Ramakers, I., Real, L. M., Reinders, M. J. T., Reitz, C., Reyes-Dumeyer, D., Ridge, P., Riedel-Heller, S., Riederer, P., Roberto, N., Rodriguez-Rodriguez, E., Rongve, A., Allende, I. R., Rosende-Roca, M., Royo, J. L., Rubino, E., Rujescu, D., Sáez, M. E., Sakka, P., Saltvedt, I., Sanabria, Á., Sánchez-Arjona, M. B., Sanchez-Garcia, F., Juan, P. S., Sánchez-Valle, R., Sando, S. B., Sarnowski, C., Satizabal, C. L., Scamosci, M., Scarmeas, N., Scarpini, E., Scheltens, P., Scherbaum, N., Scherer, M., Schmid, M., Schneider, A., Schott, J. M., Selbæk, G., Seripa, D., Serrano, M., Sha, J., Shadrin, A. A., Skrobot, O., Slifer, S., Snijders, G. J. L., Soininen, H., Solfrizzi, V., Solomon, A., Song, Y. E., Sorbi, S., Sotolongo-Grau, O., Spalletta, G., Spottke, A., Squassina, A., Stordal, E., Tartan, J. P., Tárraga, L., Tesí, N., Thalamuthu, A., Thomas, T., Tosto, G., Traykov, L., Tremolizzo, L., Tybjærg-Hansen, A., Uitterlinden, A., Ullgren, A., Ulstein, I., Valero, S., Valladares, O., Broeckhoven, C. V., Vance, J., Vardarajan, B. N., van der Lugt, A., Dongen, J. V., van Rooij, J., van Swieten, J., Vandenberghe, R., Verhey, F., Vidal, J. -S., Vogelgsang, J., Vyhnalek, M., Wagner, M., Wallon, D., Wang, L. -S., Wang, R., Weinhold, L., Wiltfang, J., Windle, G., Woods, B., Yannakoulia, M., Zare, H., Zhao, Y., Zhang, X., Zhu, C., Zulaica, M., Laczo, J., Matoska, V., Serpente, M., Assogna, F., Piras, F., Ciullo, V., Shofany, J., Ferrarese, C., Andreoni, S., Sala, G., Zoia, C. P., Zompo, M. D., Benussi, A., Bastiani, P., Takalo, M., Natunen, T., Laatikainen, T., Tuomilehto, J., Antikainen, R., Strandberg, T., Lindström, J., Peltonen, M., Abraham, R., Al-Chalabi, A., Bass, N. J., Brayne, C., Brown, K. S., Collinge, J., Craig, D., Deloukas, P., Fox, N., Gerrish, A., Gill, M., Gwilliam, R., Harold, D., Hollingworth, P., Johnston, J. A., Jones, L., Lawlor, B., Livingston, G., Lovestone, S., Lupton, M., Lynch, A., Mann, D., Mcguinness, B., Mcquillin, A., O’Donovan, M. C., Owen, M. J., Passmore, P., Powell, J. F., Proitsi, P., Rossor, M., Shaw, C. E., Smith, A. D., Gurling, H., Todd, S., Mummery, C., Ryan, N., Lacidogna, G., Adarmes-Gómez, A., Mauleón, A., Pancho, A., Gailhajenet, A., Lafuente, A., Macias-García, D., Martín, E., Pelejà, E., Carrillo, F., Merlín, I. S., Garrote-Espina, L., Vargas, L., Carrion-Claro, M., Marín, M., Labrador, M., Buendia, M., Alonso, M. D., Guitart, M., Moreno, M., Ibarria, M., Periñán, M., Aguilera, N., Gómez-Garre, P., Cañabate, P., Escuela, R., Pineda-Sánchez, R., Vigo-Ortega, R., Jesús, S., Preckler, S., Rodrigo-Herrero, S., Diego, S., Vacca, A., Roveta, F., Salvadori, N., Chipi, E., Boecker, H., Laske, C., Perneczky, R., Anastasiou, C., Janowitz, D., Malik, R., Anastasiou, A., Parveen, K., López-García, S., Antonell, A., Mihova, K. Y., Belezhanska, D., Weber, H., Kochen, S., Solis, P., Medel, N., Lisso, J., Sevillano, Z., Politis, D. G., Cores, V., Cuesta, C., Ortiz, C., Bacha, J. I., Rios, M., Saenz, A., Abalos, M. S., Kohler, E., Palacio, D. L., Etchepareborda, I., Kohler, M., Novack, G., Prestia, F. A., Galeano, P., Castaño, E. M., Germani, S., Toso, C. R., Rojo, M., Ingino, C., Mangone, C., Rubinsztein, D. C., Teipel, S., Fievet, N., Deramerourt, V., Forsell, C., Thonberg, H., Bjerke, M., Roeck, E. D., Martínez-Larrad, M. T., Olivar, N., Cano, A., Macias, J., Maroñas, O., Nuñez-Llaves, R., Olivé, C., Adarmes-Gómez, A. D., Amer-Ferrer, G., Antequera, M., Burguera, J. A., Casajeros, M. J., Martinez de Pancorbo, M., Hevilla, S., Espinosa, M. A. L., Legaz, A., Manzanares, S., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, V., Martínez-Lage Álvarez, P., Iriarte, M. M., Periñán-Tocino, M. T., Real de Asúa, D., Rodrigo, S., Sastre, I., Vicente, M. P., Vivancos, L., Epelbaum, J., Hannequin, D., Campion, D., Deramecourt, V., Tzourio, C., Brice, A., Dubois, B., Williams, A., Thomas, C., Davies, C., Nash, W., Dowzell, K., Morales, A. C., Bernardo-Harrington, M., Turton, J., Lord, J., Brown, K., Vardy, E., Fisher, E., Warren, J. D., Ryan, N. S., Guerreiro, R., Uphill, J., Bass, N., Heun, R., Kölsch, H., Schürmann, B., Lacour, A., Herold, C., Powell, J., Patel, Y., Hodges, A., Becker, T., Warden, D., Wilcock, G., Clarke, R., Ben-Shlomo, Y., Hooper, N. M., Pickering-Brown, S., Sussams, R., Warner, N., Bayer, A., Heuser, I., Drichel, D., Klopp, N., Mayhaus, M., Riemenschneider, M., Pinchler, S., Feulner, T., Gu, W., van den Bussche, H., Hüll, M., Frölich, L., Wichmann, H. -E., Jöckel, K. -H., O’Donovan, M., Owen, M., Bahrami, S., Bosnes, I., Selnes, P., Bergh, S., Palotie, A., Daly, M., Jacob, H., Matakidou, A., Runz, H., John, S., Plenge, R., Mccarthy, M., Hunkapiller, J., Ehm, M., Waterworth, D., Fox, C., Malarstig, A., Klinger, K., Call, K., Behrens, T., Loerch, P., Mäkelä, T., Kaprio, J., Virolainen, P., Pulkki, K., Kilpi, T., Perola, M., Partanen, J., Pitkäranta, A., Kaarteenaho, R., Vainio, S., Turpeinen, M., Serpi, R., Laitinen, T., Mäkelä, J., Kosma, V. -M., Kujala, U., Tuovila, O., Hendolin, M., Pakkanen, R., Waring, J., Riley-Gillis, B., Liu, J., Biswas, S., Diogo, D., Marshall, C., Hu, X., Gossel, M., Graham, R., Cummings, B., Ripatti, S., Schleutker, J., Arvas, M., Carpén, O., Hinttala, R., Kettunen, J., Mannermaa, A., Laukkanen, J., Julkunen, V., Remes, A., Kälviäinen, R., Peltola, J., Tienari, P., Rinne, J., Ziemann, A., Esmaeeli, S., Smaoui, N., Lehtonen, A., Eaton, S., Lahdenperä, S., van Adelsberg, J., Michon, J., Kerchner, G., Bowers, N., Teng, E., Eicher, J., Mehta, V., Gormley, P., Linden, K., Whelan, C., Xu, F., Pulford, D., Färkkilä, M., Pikkarainen, S., Jussila, A., Blomster, T., Kiviniemi, M., Voutilainen, M., Georgantas, B., Heap, G., Rahimov, F., Usiskin, K., Lu, T., Oh, D., Kalpala, K., Miller, M., Mccarthy, L., Eklund, K., Palomäki, A., Isomäki, P., Pirilä, L., Kaipiainen-Seppänen, O., Huhtakangas, J., Lertratanakul, A., Hochfeld, M., Bing, N., Gordillo, J. E., Mars, N., Pelkonen, M., Kauppi, P., Kankaanranta, H., Harju, T., Close, D., Greenberg, S., Chen, H., Betts, J., Ghosh, S., Salomaa, V., Niiranen, T., Juonala, M., Metsärinne, K., Kähönen, M., Junttila, J., Laakso, M., Pihlajamäki, J., Sinisalo, J., Taskinen, M. -R., Tuomi, T., Challis, B., Peterson, A., Chu, A., Parkkinen, J., Muslin, A., Joensuu, H., Meretoja, T., Aaltonen, L., Mattson, J., Auranen, A., Karihtala, P., Kauppila, S., Auvinen, P., Elenius, K., Popovic, R., Schutzman, J., Loboda, A., Chhibber, A., Lehtonen, H., Mcdonough, S., Crohns, M., Kulkarni, D., Kaarniranta, K., Turunen, J. A., Ollila, T., Seitsonen, S., Uusitalo, H., Aaltonen, V., Uusitalo-Järvinen, H., Luodonpää, M., Hautala, N., Loomis, S., Strauss, E., Podgornaia, A., Hoffman, J., Tasanen, K., Huilaja, L., Hannula-Jouppi, K., Salmi, T., Peltonen, S., Koulu, L., Harvima, I., Wu, Y., Choy, D., Pussinen, P., Salminen, A., Salo, T., Rice, D., Nieminen, P., Palotie, U., Siponen, M., Suominen, L., Mäntylä, P., Gursoy, U., Anttonen, V., Sipilä, K., Davis, J. W., Quarless, D., Petrovski, S., Wigmore, E., Chen, C. -Y., Bronson, P., Tsai, E., Huang, Y., Maranville, J., Shaikho, E., Mohammed, E., Wadhawan, S., Kvikstad, E., Caliskan, M., Chang, D., Bhangale, T., Pendergrass, S., Holzinger, E., Chen, X., Hedman, Å., King, K. 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Kathleen, A Welsh-Bohmer, Patrice, L Whitehead, Ellen, M Wijsman, Kirk, C Wilhelmsen, Benjamin, Williams, Jennifer, Williamson, Henrik, Wilms, Thomas, S Wingo, Thomas, Wisniewski, Randall, L Woltjer, Martin, Woon, Clinton, B Wright, Chuang-Kuo, Wu, Steven, G Younkin, Chang-En, Yu, Lei, Yu, Yuanchao, Zhang, Zhao, Yi, Xiongwei, Zhu, Hieab, Adams, Rufus, O Akinyemi, Muhammad, Ali, Nicola, Armstrong, Hugo, J Aparicio, Maryam, Bahadori, Monique, Breteler, Daniel, Chasman, Ganesh, Chauhan, Hata, Comic, Simon, Cox, Adrienne, L Cupples, Gail, Davies, Charles, S DeCarli, Marie-Gabrielle, Duperron, Josée, Dupuis, Tavia, Evans, Frank, Fan, Annette, Fitzpatrick, Alison, E Fohner, Mary, Ganguli, Mirjam, Geerlings, Stephen, J Glatt, Hector, M Gonzalez, Monica, Goss, Hans, Grabe, Mohamad, Habes, Susan, R Heckbert, Edith, Hofer, Elliot, Hong, Timothy, Hughes, Tiffany, F Kautz, Maria, Knol, William, Kremen, Paul, Lacaze, Jari, Lahti, Quentin Le Grand, Elizabeth, Litkowski, Shuo, Li, Dan, Liu, Xuan, Liu, Marisa, Loitfelder, Alisa, Manning, Pauline, Maillard, Riccardo, Marioni, Bernard, Mazoyer, Debora Melo van Lent, Hao, Mei, Aniket, Mishra, Paul, Nyquist, Jeffrey, O'Connell, Yash, Patel, Tomas, Paus, Zdenka, Pausova, Katri, Raikkonen-Talvitie, Moeen, Riaz, Stephen, Rich, Jerome, Rotter, Jose, Romero, Gena, Roshchupkin, Yasaman, Saba, Murali, Sargurupremraj, Helena, Schmidt, Reinhold, Schmidt, Joshua, M Shulman, Jennifer, Smith, Hema, Sekhar, Reddy, Rajula, Jean, Shin, Jeannette, Simino, Eeva, Sliz, Alexander, Teumer, Alvin, Thomas, Adrienne, Tin, Elliot, Tucker-Drob, Dina, Vojinovic, Yanbing, Wang, Galit, Weinstein, Dylan, Williams, Katharina, Wittfeld, Lisa, Yanek, Yunju, Yang, Bellenguez, C, Küçükali, F, Jansen, I, Kleineidam, L, Moreno-Grau, S, Amin, N, Naj, A, Campos-Martin, R, Grenier-Boley, B, Andrade, V, Holmans, P, Boland, A, Damotte, V, van der Lee, S, Costa, M, Kuulasmaa, T, Yang, Q, de Rojas, I, Bis, J, Yaqub, A, Prokic, I, Chapuis, J, Ahmad, S, Giedraitis, V, 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M, Rossi, P, Djurovic, S, Duron, E, Düzel, E, Dufouil, C, Eiriksdottir, G, Engelborghs, S, Escott-Price, V, Espinosa, A, Ewers, M, Faber, K, Fabrizio, T, Nielsen, S, Fardo, D, Farotti, L, Fenoglio, C, Fernández-Fuertes, M, Ferrari, R, Ferreira, C, Ferri, E, Fin, B, Fischer, P, Fladby, T, Fließbach, K, Fongang, B, Fornage, M, Fortea, J, Foroud, T, Fostinelli, S, Fox, N, Franco-Macías, E, Bullido, M, Frank-García, A, Froelich, L, Fulton-Howard, B, Galimberti, D, García-Alberca, J, García-González, P, Garcia-Madrona, S, Garcia-Ribas, G, Ghidoni, R, Giegling, I, Giorgio, G, Goate, A, Goldhardt, O, Gomez-Fonseca, D, González-Pérez, A, Graff, C, Grande, G, Green, E, Grimmer, T, Grünblatt, E, Grunin, M, Gudnason, V, Guetta-Baranes, T, Haapasalo, A, Hadjigeorgiou, G, Haines, J, Hamilton-Nelson, K, Hampel, H, Hanon, O, Hardy, J, Hartmann, A, Hausner, L, Harwood, J, Heilmann-Heimbach, S, Helisalmi, S, Heneka, M, Hernández, I, Herrmann, M, Hoffmann, P, Holmes, C, Holstege, H, Vilas, R, Hulsman, M, Humphrey, J, Biessels, G, Jian, X, Johansson, C, Jun, G, Kastumata, Y, Kauwe, J, Kehoe, P, Kilander, L, Ståhlbom, A, Kivipelto, M, Koivisto, A, Kornhuber, J, Kosmidis, M, Kukull, W, Kuksa, P, Kunkle, B, Kuzma, A, Lage, C, Laukka, E, Launer, L, Lauria, A, Lee, C, Lehtisalo, J, Lerch, O, Lleó, A, Longstreth, W, Lopez, O, de Munain, A, Love, S, Löwemark, M, Luckcuck, L, Lunetta, K, Ma, Y, Macías, J, Macleod, C, Maier, W, Mangialasche, F, Spallazzi, M, Marquié, M, Marshall, R, Martin, E, Montes, A, Rodríguez, C, Masullo, C, Mayeux, R, Mead, S, Mecocci, P, Medina, M, Meggy, A, Mehrabian, S, Mendoza, S, Menéndez-González, M, Mir, P, Moebus, S, Mol, M, Molina-Porcel, L, Montrreal, L, Morelli, L, Moreno, F, Morgan, K, Mosley, T, Nöthen, M, Muchnik, C, Mukherjee, S, Nacmias, B, Ngandu, T, Nicolas, G, Nordestgaard, B, Olaso, R, Orellana, A, Orsini, M, Ortega, G, Padovani, A, Paolo, C, Papenberg, G, Parnetti, L, Pasquier, F, Pastor, P, Peloso, G, Pérez-Cordón, A, Pérez-Tur, J, Pericard, P, Peters, O, Pijnenburg, Y, Pineda, J, Piñol-Ripoll, G, Pisanu, C, Polak, T, Popp, J, Posthuma, D, Priller, J, Puerta, R, Quenez, O, Quintela, I, Thomassen, J, Rábano, A, Rainero, I, Rajabli, F, Ramakers, I, Real, L, Reinders, M, Reitz, C, Reyes-Dumeyer, D, Ridge, P, Riedel-Heller, S, Riederer, P, Roberto, N, Rodriguez-Rodriguez, E, Rongve, A, Allende, I, Rosende-Roca, M, Royo, J, Rubino, E, Rujescu, D, Sáez, M, Sakka, P, Saltvedt, I, Sanabria, Á, Sánchez-Arjona, M, Sanchez-Garcia, F, Juan, P, Sánchez-Valle, R, Sando, S, Sarnowski, C, Satizabal, C, Scamosci, M, Scarmeas, N, Scarpini, E, Scheltens, P, Scherbaum, N, Scherer, M, Schmid, M, Schneider, A, Schott, J, Selbæk, G, Seripa, D, Serrano, M, Sha, J, Shadrin, A, Skrobot, O, Slifer, S, Snijders, G, Soininen, H, Solfrizzi, V, Solomon, A, Song, Y, Sorbi, S, Sotolongo-Grau, O, Spalletta, G, Spottke, A, Squassina, A, Stordal, E, Tartan, J, Tárraga, L, Tesí, N, Thalamuthu, A, Thomas, T, Tosto, G, Traykov, L, Tremolizzo, L, Tybjærg-Hansen, A, Uitterlinden, A, Ullgren, A, Ulstein, I, Valero, S, Valladares, O, Broeckhoven, C, Vance, J, Vardarajan, B, van der Lugt, A, Dongen, J, van Rooij, J, van Swieten, J, Vandenberghe, R, Verhey, F, Vidal, J, Vogelgsang, J, Vyhnalek, M, Wagner, M, Wallon, D, Wang, L, Wang, R, Weinhold, L, Wiltfang, J, Windle, G, Woods, B, Yannakoulia, M, Zare, H, Zhao, Y, Zhang, X, Zhu, C, Zulaica, M, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Farrer, L, Psaty, B, Ghanbari, M, Raj, T, Sachdev, P, Mather, K, Jessen, F, Ikram, M, de Mendonça, A, Hort, J, Tsolaki, M, Pericak-Vance, M, Amouyel, P, Williams, J, Frikke-Schmidt, R, Clarimon, J, Deleuze, J, Rossi, G, Seshadri, S, Andreassen, O, Ingelsson, M, Hiltunen, M, Sleegers, K, Schellenberg, G, van Duijn, C, Sims, R, van der Flier, W, Ruiz, A, Ramirez, A, Lambert, J, VU University medical center, Amsterdam Neuroscience - Neurodegeneration, Neurology, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, 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Sachdev, Perminder [0000-0002-9595-3220], Mather, Karen [0000-0003-4143-8941], Ikram, M Arfan [0000-0003-0372-8585], Tsolaki, Magda [0000-0002-2072-8010], Pericak-Vance, Margaret A [0000-0001-7283-8804], Amouyel, Philippe [0000-0001-9088-234X], Williams, Julie [0000-0002-4069-0259], Frikke-Schmidt, Ruth [0000-0003-4084-5027], Seshadri, Sudha [0000-0001-6135-2622], Andreassen, Ole A [0000-0002-4461-3568], Sleegers, Kristel [0000-0002-0283-2332], van Duijn, Cornelia M [0000-0002-2374-9204], Sims, Rebecca [0000-0002-3885-1199], van der Flier, Wiesje M [0000-0001-8766-6224], Ramirez, Alfredo [0000-0003-4991-763X], Lambert, Jean-Charles [0000-0003-0829-7817], Apollo - University of Cambridge Repository, Complex Trait Genetics, Clinical sciences, Neuroprotection & Neuromodulation, Pathologic Biochemistry and Physiology, Clinical Biology, Epidemiology, Internal Medicine, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Psychiatrie (9), UAM. Departamento de Biología Molecular, University of Helsinki, Department of Neurosciences, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Clinicum, HUS Neurocenter, Neurologian yksikkö, Centre of Excellence in Complex Disease Genetics, HUS Abdominal Center, Institut Pasteur, Institut National de la Santé et de la Recherche Médicale (France), European Commission, LabEx DISTALZ, Pérez-Tur, Jordi, University Children’s Hospital Basel (Suiza), INSERM (Francia), Lille Métropole Communauté Urbaine, Government of France (Francia), EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Holmans, Peter A. [0000-0003-0870-9412], van der Lee, Sven J. [0000-0003-1606-8643], Costa, Marcos R. [0000-0002-4928-2163], Bis, Joshua C. [0000-0002-3409-1110], Brookes, Keeley J. [0000-0003-2427-2513], Bush, William S. [0000-0002-9729-6519], de Witte, Lot D. [0000-0002-7235-9958], del Ser, Teodoro [0000-0001-9806-7083], Fox, Nick C. [0000-0002-6660-657X], Bullido, María J. [0000-0002-6477-1117], Goate, Alison M. [0000-0002-0576-2472], Herrmann, Martin J. [0000-0001-9970-2122], Jun, Gyungah R. [0000-0002-3230-8697], Kehoe, Patrick G. [0000-0002-7542-1139], Kosmidis, Mary H. [0000-0001-8790-1220], Lunetta, Kathryn L. [0000-0002-9268-810X], MacLeod, Catherine A. [0000-0002-9314-7380], Nöthen, Markus M. [0000-0002-8770-2464], Nordestgaard, Børge G. [0000-0002-1954-7220], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis M. [0000-0003-4932-7429], Reinders, Marcel J. T. [0000-0002-1148-1562], Satizabal, Claudia L. [0000-0002-1115-4430], Schott, Jonathan M. [0000-0003-2059-024X], Shadrin, Alexey A. [0000-0002-7467-250X], Farrer, Lindsay A. [0000-0001-5533-4225], Psaty, Bruce M. [0000-0002-7278-2190], Ikram, M. Arfan [0000-0003-0372-8585], Pericak-Vance, Margaret A. [0000-0001-7283-8804], Andreassen, Ole A. [0000-0002-4461-3568], van Duijn, Cornelia M. [0000-0002-2374-9204], van der Flier, Wiesje M. [0000-0001-8766-6224], and Molecular Neuroscience and Ageing Research (MOLAR)
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tau Proteins/genetics ,Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1] ,Neurologi ,MED/03 - GENETICA MEDICA ,45/43 ,Medizin ,Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13] ,genetics [Alzheimer Disease] ,Genome-Wide Association Study ,Humans ,tau Proteins ,Alzheimer Disease ,Cognitive Dysfunction ,VARIANTS ,pathology [Alzheimer Disease] ,Tau Proteins ,Settore BIO/13 - Biologia Applicata ,Cognitive Dysfunction/psychology ,692/699/375/365/1283 ,IMPUTATION ,article ,1184 Genetics, developmental biology, physiology ,Biología y Biomedicina / Biología ,AMYLOID-BETA ,Settore MED/26 - NEUROLOGIA ,Neurology ,psychology [Cognitive Dysfunction] ,Medical Genetics ,Human ,Neuroscience(all) ,631/208/205/2138 ,All institutes and research themes of the Radboud University Medical Center ,SDG 3 - Good Health and Well-being ,ddc:570 ,Genetics ,Genetic Predisposition to Disease ,GENOME-WIDE ASSOCIATION ,METAANALYSIS ,Medicinsk genetik ,MED/26 - NEUROLOGIA ,Alzheimer Disease/genetics ,neurology ,tau Protein ,NECROSIS-FACTOR-ALPHA ,RISK LOCI ,genetics [tau Proteins] ,PREDICTION MODELS ,Human medicine ,GENERATION ,RESPONSES - Abstract
25 páginas, 6 figuras, 2 tablas, Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele., This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not
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- 2022
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7. Plasma Aβ42/40 Ratio Detects Early Stages of Alzheimer’s Disease and Correlates with CSF and Neuroimaging Biomarkers in the AB255 Study
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Pérez-Grijalba, V., Romero, J., Pesini, Pedro, Sarasa, L., Monleón, I., San-José, I., Arbizu, J., Martínez-Lage, P., Munuera, J., Ruiz, A., Tárraga, L., Boada, M., Sarasa, M., and The AB255 Study Group
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- 2019
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8. Genetic risk for schizophrenia and psychosis in Alzheimer disease
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DeMichele-Sweet, M A A, Weamer, E A, Klei, L, Vrana, D T, Hollingshead, D J, Seltman, H J, Sims, R, Foroud, T, Hernandez, I, Moreno-Grau, S, Tárraga, L, Boada, M, Ruiz, A, Williams, J, Mayeux, R, Lopez, O L, Sibille, E L, Kamboh, M I, Devlin, B, and Sweet, R A
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- 2018
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9. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-González, Pablo, Valero, Sergi, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., Smith, A. David, Saenz, Aldo, Bizzarro, Alessandra, Lauria, Alessandra, Vacca, Alessandro, Solomon, Alina, Anastasiou, Anna, Richardson, Anna, Boland, Anne, Koivisto, Anne, Daniele, Antonio, Greco, Antonio, Marianthi, Arnaoutoglou, McGuinness, Bernadette, Fin, Bertrand, Ferrari, Camilla, Custodero, Carlo, Ferrarese, Carlo, Ingino, Carlos, Mangone, Carlos, Reyes Toso, Carlos, Martínez, Carmen, Cuesta, Carolina, Muchnik, Carolina, Joachim, Catharine, Ortiz, Cecilia, Besse, Céline, Johansson, Charlotte, Zoia, Chiara Paola, Laske, Christoph, Anastasiou, Costas, Palacio, Dana Lis, Politis, Daniel G., Janowitz, Daniel, Craig, David, Mann, David M., Neary, David, Jürgen, Deckert, Daian, Delphine, Belezhanska, Diyana, Kohler, Eduardo, Castaño, Eduardo M., Koutsouraki, Effrosyni, Chipi, Elena, De Roeck, Ellen, Costantini, Emanuele, Vardy, Emma R. L. C., Piras, Fabrizio, Roveta, Fausto, Piras, Federica, Prestia, Federico Ariel, Assogna, Francesca, Salani, Francesca, Sala, Gessica, Lacidogna, Giordano, Novack, Gisela, Wilcock, Gordon, Thonberg, Håkan, Kölsch, Heike, Weber, Heike, Boecker, Henning, Etchepareborda, Ignacio, Piaceri, Irene, Tuomilehto, Jaakko, Lindström, Jaana, Laczo, Jan, Johnston, Janet, Deleuze, Jean-François, Harris, Jenny, Schott, Jonathan M., Priller, Josef, Bacha, Juan Ignacio, Snowden, Julie, Lisso, Julieta, Mihova, Kalina Yonkova, Traykov, Latchezar, Morelli, Laura, Brusco, Luis Ignacio, Rainer, Malik, Takalo, Mari, Bjerke, Maria, Del Zompo, Maria, Serpente, Maria, Sanchez Abalos, Mariana, Rios, Mario, Peltonen, Markku, Herrman, Martin J., Kohler, Matias, Rojo, Matias, Jones, Matthew, Orsini, Michela, Medel, Nancy, Olivar, Natividad, Fox, Nick C., Salvadori, Nicola, Hooper, Nigel M., Galeano, Pablo, Solis, Patricia, Bastiani, Patrizia, Passmore, Peter, Heun, Reinhard, Antikainen, Riitta, Olaso, Robert, Perneczky, Robert, Germani, Sandra, López-García, Sara, Love, Seth, Mehrabian, Shima, Bagnoli, Silvia, Kochen, Silvia, Andreoni, Simona, Teipel, Stefan, Todd, Stephen, Pickering-Brown, Stuart, Natunen, Teemu, Tegos, Thomas, Laatikainen, Tiina, Strandberg, Timo, Polvikoski, Tuomo M., Matoska, Vaclav, Ciullo, Valentina, Cores, Valeria, Solfrizzi, Vincenzo, Lisetti, Viviana, Sevillano, Zulma, Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García-González, P., Gil, S., Guitart, M., González-Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rosende-Roca, M., Ruiz, A., Sáez, M.E., Sanabria, A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Alonso, M.D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Escuela, R., Garrote-Espina, L., Fortea, J., Franco-Macías, E., Frank-García, A., Garcia Madrona, S., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M.A., Lage, C., Legaz, A., Lleó, A., Lopez de Munain, A., López-García, S., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W., Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., Ruiz, Agustín, Smith, A David, Saenz, Aldo, Bizzarro, Alessandra, Lauria, Alessandra, Vacca, Alessandro, Solomon, Alina, Anastasiou, Anna, Richardson, Anna, Boland, Anne, Koivisto, Anne, Daniele, Antonio, Greco, Antonio, Marianthi, Arnaoutoglou, McGuinness, Bernadette, Fin, Bertrand, Ferrari, Camilla, Custodero, Carlo, Ferrarese, Carlo, Ingino, Carlos, Mangone, Carlos, Reyes Toso, Carlos, Martínez, Carmen, Cuesta, Carolina, Muchnik, Carolina, Joachim, Catharine, Ortiz, Cecilia, Besse, Céline, Johansson, Charlotte, Zoia, Chiara Paola, Laske, Christoph, Anastasiou, Costas, Palacio, Dana Lis, Politis, Daniel G, Janowitz, Daniel, Craig, David, Mann, David M, Neary, David, Jürgen, Deckert, Daian, Delphine, Belezhanska, Diyana, Kohler, Eduardo, Castaño, Eduardo M, Koutsouraki, Effrosyni, Chipi, Elena, De Roeck, Ellen, Costantini, Emanuele, Vardy, Emma R L C, Piras, Fabrizio, Roveta, Fausto, Piras, Federica, Prestia, Federico Ariel, Assogna, Francesca, Salani, Francesca, Sala, Gessica, Lacidogna, Giordano, Novack, Gisela, Wilcock, Gordon, Thonberg, Håkan, Kölsch, Heike, Weber, Heike, Boecker, Henning, Etchepareborda, Ignacio, Piaceri, Irene, Tuomilehto, Jaakko, Lindström, Jaana, Laczo, Jan, Johnston, Janet, Deleuze, Jean-François, Harris, Jenny, Schott, Jonathan M, Priller, Josef, Bacha, Juan Ignacio, Snowden, Julie, Lisso, Julieta, Mihova, Kalina Yonkova, Traykov, Latchezar, Morelli, Laura, Brusco, Luis Ignacio, Rainer, Malik, Takalo, Mari, Bjerke, Maria, Del Zompo, Maria, Serpente, Maria, Sanchez Abalos, Mariana, Rios, Mario, Peltonen, Markku, Herrman, Martin J, Kohler, Matias, Rojo, Matias, Jones, Matthew, Orsini, Michela, Medel, Nancy, Olivar, Natividad, Fox, Nick C, Salvadori, Nicola, Hooper, Nigel M, Galeano, Pablo, Solis, Patricia, Bastiani, Patrizia, Passmore, Peter, Heun, Reinhard, Antikainen, Riitta, Olaso, Robert, Perneczky, Robert, Germani, Sandra, López-García, Sara, Love, Seth, Mehrabian, Shima, Bagnoli, Silvia, Kochen, Silvia, Andreoni, Simona, Teipel, Stefan, Todd, Stephen, Pickering-Brown, Stuart, Natunen, Teemu, Tegos, Thomas, Laatikainen, Tiina, Strandberg, Timo, Polvikoski, Tuomo M, Matoska, Vaclav, Ciullo, Valentina, Cores, Valeria, Solfrizzi, Vincenzo, Lisetti, Viviana, Sevillano, Zulma, Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón-Anchuelo, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García-González, P., Gil, S., Guitart, M., González-Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M. T., Marquié, M., Mauleón, A., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J. A., Preckler, S., Quintela, I., Real, L. M., Rosende-Roca, M., Ruiz, A., Sáez, M. E., Sanabria, A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A. D., Alarcón-Martín, E., Alonso, M. D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M. J., Burguera, J. A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M. J., Clarimón, J., Cruz-Gamero, J. M., de Pancorbo, M. M., Del Ser, T., Diez-Fairen, M., Escuela, R., Garrote-Espina, L., Fortea, J., Franco-Macías, E., Frank-García, A., García-Alberca, J. M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M. A., Lage, C., Legaz, A., Lleó, A., Lopez de Munain, A., López-García, S., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J. L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J. L., Sanchez Del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M. P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W, Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Rongve, Arvid, Brussels Heritage Lab, Clinical sciences, Neuroprotection & Neuromodulation, and Neurology
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polygenic risk scores ,Multidisciplinary ,Common variants ,Neuroscience(all) ,neurology ,Medizin ,General Physics and Astronomy ,ddc:500 ,General Chemistry ,Alzheimer's disease ,General Biochemistry, Genetics and Molecular Biology ,RISK STRATIFICATION - Abstract
The original version of this Article omitted from the author list the 212th author Patrizia Mecocci, who is from the Institute of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy. Consequently, the “Sample Contribution” section of Author Contributions was updated to add “P.M” between “P.D.” and “R.C.”. Additionally, the original version of this Article contained the incorrect affiliation for author Patrick Gavin Kehoe, which incorrectly read “German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany”. The correct version replaces this affiliation with “Bristol Medical School (THS), University of Bristol, Southmead Hospital, Bristol, UK”. This has been corrected in both the PDF and HTML versions of the Article. CA extern
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- 2023
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10. Correlations between plasma and PET beta-amyloid levels in individuals with subjective cognitive decline: the Fundació ACE Healthy Brain Initiative (FACEHBI)
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de Rojas, Itziar, Romero, J., Rodríguez-Gomez, O., Pesini, P., Sanabria, A., Pérez-Cordon, A., Abdelnour, C., Hernández, I., Rosende-Roca, M., Mauleón, A., Vargas, L., Alegret, M., Espinosa, A., Ortega, G., Gil, S., Guitart, M., Gailhajanet, A., Santos-Santos, M. A., Moreno-Grau, Sonia, Sotolongo-Grau, O., Ruiz, S., Montrreal, L., Martín, E., Pelejà, E., Lomeña, F., Campos, F., Vivas, A., Gómez-Chiari, M., Tejero, M. A., Giménez, J., Pérez-Grijalba, V., Marquié, G. M., Monté-Rubio, G., Valero, S., Orellana, A., Tárraga, L., Sarasa, M., Ruiz, A., Boada, M., and on behalf of the FACEHBI study
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- 2018
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11. Cognitive plasticity in normal and pathological aging
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Fernández-Ballesteros R, Botella J, Zamarrón MD, Molina MÁ, Cabras E, Schettini R, and Tárraga L
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Cognitive plasticity ,modifyability ,learning ,age ,ageing ,alzeimer´s disease ,mild cognitive impairment ,Geriatrics ,RC952-954.6 - Abstract
Rocío Fernández-Ballesteros1, Juan Botella1, María Dolores Zamarrón1, María Ángeles Molina1, Emilia Cabras1, Rocío Schettini1, Lluis Tárraga21Autonomous University of Madrid, Madrid, Spain; 2ACE Foundation, Catalonian Institute of Applied Neurosciences, Barcelona, SpainAbstract: The main goal of the present study is to examine to what extent age and cognitive impairment contribute to learning performance (cognitive plasticity, cognitive modifiability, or learning potential). To address this question, participants coming from four studies (Longitudinal Study of Active Aging, age range, 55–75 years, N = 458; Longitudinal Study in the very old [90+], age range, 90–102, N = 188, and Cognitive Plasticity within the Course of Cognitive Impairment, 97 “Normal”, 57 mild cognitive impairment [MCI], and 98 Alzheimer's disease [AD] patients) were examined through a measure of verbal learning (developed from Rey). The results show that all age, MCI, and AD groups learned across the five learning trials of that test, but significant differences were found due to age, pathology, and education. The effects of pathology (MCI and AD) can be expressed in a metric of “years of normal decline by age”; specifically, being MCI means suffering an impairment in performance that is equivalent to the decline of a normal individual during 15 years, whereas the impact of AD is equivalent to 22.7 years. Likewise, the improvement associated with about 5 years of education is equivalent to about 1 year less of normal aging. Also, the two pathological groups significantly differed from “normal” groups in the delayed trial of the test. The most dramatic difference is that between the “normal” group and the AD patients, which shows relatively poorer performance for the AD group in the delayed trial than in the first learning trial. The potential role of this unique effect for quick detection purposes of AD is assessed (in the 75–89 years age range, sensitivity and specificity equal 0.813 and 0.917, respectively).Keywords: cognitive plasticity, cognitive modifiability, learning age, aging, Alzheimer's disease, mild cognitive impairment
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- 2012
12. New insights into the genetic etiology of Alzheimer's disease and related dementias
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Bellenguez, C. Küçükali, F. Jansen, I.E. Kleineidam, L. Moreno-Grau, S. Amin, N. Naj, A.C. Campos-Martin, R. Grenier-Boley, B. Andrade, V. Holmans, P.A. Boland, A. Damotte, V. van der Lee, S.J. Costa, M.R. Kuulasmaa, T. Yang, Q. de Rojas, I. Bis, J.C. Yaqub, A. Prokic, I. Chapuis, J. Ahmad, S. Giedraitis, V. Aarsland, D. Garcia-Gonzalez, P. Abdelnour, C. Alarcón-Martín, E. Alcolea, D. Alegret, M. Alvarez, I. Álvarez, V. Armstrong, N.J. Tsolaki, A. Antúnez, C. Appollonio, I. Arcaro, M. Archetti, S. Pastor, A.A. Arosio, B. Athanasiu, L. Bailly, H. Banaj, N. Baquero, M. Barral, S. Beiser, A. Pastor, A.B. Below, J.E. Benchek, P. Benussi, L. Berr, C. Besse, C. Bessi, V. Binetti, G. Bizarro, A. Blesa, R. Boada, M. Boerwinkle, E. Borroni, B. Boschi, S. Bossù, P. Bråthen, G. Bressler, J. Bresner, C. Brodaty, H. Brookes, K.J. Brusco, L.I. Buiza-Rueda, D. Bûrger, K. Burholt, V. Bush, W.S. Calero, M. Cantwell, L.B. Chene, G. Chung, J. Cuccaro, M.L. Carracedo, Á. Cecchetti, R. Cervera-Carles, L. Charbonnier, C. Chen, H.-H. Chillotti, C. Ciccone, S. Claassen, J.A.H.R. Clark, C. Conti, E. Corma-Gómez, A. Costantini, E. Custodero, C. Daian, D. Dalmasso, M.C. Daniele, A. Dardiotis, E. Dartigues, J.-F. de Deyn, P.P. de Paiva Lopes, K. de Witte, L.D. Debette, S. Deckert, J. Del Ser, T. Denning, N. DeStefano, A. Dichgans, M. Diehl-Schmid, J. Diez-Fairen, M. Rossi, P.D. Djurovic, S. Duron, E. Düzel, E. Dufouil, C. Eiriksdottir, G. Engelborghs, S. Escott-Price, V. Espinosa, A. Ewers, M. Faber, K.M. Fabrizio, T. Nielsen, S.F. Fardo, D.W. Farotti, L. Fenoglio, C. Fernández-Fuertes, M. Ferrari, R. Ferreira, C.B. Ferri, E. Fin, B. Fischer, P. Fladby, T. Fließbach, K. Fongang, B. Fornage, M. Fortea, J. Foroud, T.M. Fostinelli, S. Fox, N.C. Franco-Macías, E. Bullido, M.J. Frank-García, A. Froelich, L. Fulton-Howard, B. Galimberti, D. García-Alberca, J.M. García-González, P. Garcia-Madrona, S. Garcia-Ribas, G. Ghidoni, R. Giegling, I. Giorgio, G. Goate, A.M. Goldhardt, O. Gomez-Fonseca, D. González-Pérez, A. Graff, C. Grande, G. Green, E. Grimmer, T. Grünblatt, E. Grunin, M. Gudnason, V. Guetta-Baranes, T. Haapasalo, A. Hadjigeorgiou, G. Haines, J.L. Hamilton-Nelson, K.L. Hampel, H. Hanon, O. Hardy, J. Hartmann, A.M. Hausner, L. Harwood, J. Heilmann-Heimbach, S. Helisalmi, S. Heneka, M.T. Hernández, I. Herrmann, M.J. Hoffmann, P. Holmes, C. Holstege, H. Vilas, R.H. Hulsman, M. Humphrey, J. Biessels, G.J. Jian, X. Johansson, C. Jun, G.R. Kastumata, Y. Kauwe, J. Kehoe, P.G. Kilander, L. Ståhlbom, A.K. Kivipelto, M. Koivisto, A. Kornhuber, J. Kosmidis, M.H. Kukull, W.A. Kuksa, P.P. Kunkle, B.W. Kuzma, A.B. Lage, C. Laukka, E.J. Launer, L. Lauria, A. Lee, C.-Y. Lehtisalo, J. Lerch, O. Lleó, A. Longstreth, W., Jr Lopez, O. de Munain, A.L. Love, S. Löwemark, M. Luckcuck, L. Lunetta, K.L. Ma, Y. Macías, J. MacLeod, C.A. Maier, W. Mangialasche, F. Spallazzi, M. Marquié, M. Marshall, R. Martin, E.R. Montes, A.M. Rodríguez, C.M. Masullo, C. Mayeux, R. Mead, S. Mecocci, P. Medina, M. Meggy, A. Mehrabian, S. Mendoza, S. Menéndez-González, M. Mir, P. Moebus, S. Mol, M. Molina-Porcel, L. Montrreal, L. Morelli, L. Moreno, F. Morgan, K. Mosley, T. Nöthen, M.M. Muchnik, C. Mukherjee, S. Nacmias, B. Ngandu, T. Nicolas, G. Nordestgaard, B.G. Olaso, R. Orellana, A. Orsini, M. Ortega, G. Padovani, A. Paolo, C. Papenberg, G. Parnetti, L. Pasquier, F. Pastor, P. Peloso, G. Pérez-Cordón, A. Pérez-Tur, J. Pericard, P. Peters, O. Pijnenburg, Y.A.L. Pineda, J.A. Piñol-Ripoll, G. Pisanu, C. Polak, T. Popp, J. Posthuma, D. Priller, J. Puerta, R. Quenez, O. Quintela, I. Thomassen, J.Q. Rábano, A. Rainero, I. Rajabli, F. Ramakers, I. Real, L.M. Reinders, M.J.T. Reitz, C. Reyes-Dumeyer, D. Ridge, P. Riedel-Heller, S. Riederer, P. Roberto, N. Rodriguez-Rodriguez, E. Rongve, A. Allende, I.R. Rosende-Roca, M. Royo, J.L. Rubino, E. Rujescu, D. Sáez, M.E. Sakka, P. Saltvedt, I. Sanabria, Á. Sánchez-Arjona, M.B. Sanchez-Garcia, F. Juan, P.S. Sánchez-Valle, R. Sando, S.B. Sarnowski, C. Satizabal, C.L. Scamosci, M. Scarmeas, N. Scarpini, E. Scheltens, P. Scherbaum, N. Scherer, M. Schmid, M. Schneider, A. Schott, J.M. Selbæk, G. Seripa, D. Serrano, M. Sha, J. Shadrin, A.A. Skrobot, O. Slifer, S. Snijders, G.J.L. Soininen, H. Solfrizzi, V. Solomon, A. Song, Y. Sorbi, S. Sotolongo-Grau, O. Spalletta, G. Spottke, A. Squassina, A. Stordal, E. Tartan, J.P. Tárraga, L. Tesí, N. Thalamuthu, A. Thomas, T. Tosto, G. Traykov, L. Tremolizzo, L. Tybjærg-Hansen, A. Uitterlinden, A. Ullgren, A. Ulstein, I. Valero, S. Valladares, O. Broeckhoven, C.V. Vance, J. Vardarajan, B.N. van der Lugt, A. Dongen, J.V. van Rooij, J. van Swieten, J. Vandenberghe, R. Verhey, F. Vidal, J.-S. Vogelgsang, J. Vyhnalek, M. Wagner, M. Wallon, D. Wang, L.-S. Wang, R. Weinhold, L. Wiltfang, J. Windle, G. Woods, B. Yannakoulia, M. Zare, H. Zhao, Y. Zhang, X. Zhu, C. Zulaica, M. Farrer, L.A. Psaty, B.M. Ghanbari, M. Raj, T. Sachdev, P. Mather, K. Jessen, F. Ikram, M.A. de Mendonça, A. Hort, J. Tsolaki, M. Pericak-Vance, M.A. Amouyel, P. Williams, J. Frikke-Schmidt, R. Clarimon, J. Deleuze, J.-F. Rossi, G. Seshadri, S. Andreassen, O.A. Ingelsson, M. Hiltunen, M. Sleegers, K. Schellenberg, G.D. van Duijn, C.M. Sims, R. van der Flier, W.M. Ruiz, A. Ramirez, A. Lambert, J.-C. EADB GR@ACE DEGESCO EADI GERAD Demgene FinnGen ADGC CHARGE
- Abstract
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. © 2022. The Author(s).
- Published
- 2022
13. Genome-wide significant risk factors for Alzheimerʼs disease: role in progression to dementia due to Alzheimerʼs disease among subjects with mild cognitive impairment
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Lacour, A, Espinosa, A, Louwersheimer, E, Heilmann, S, Hernández, I, Wolfsgruber, S, Fernández, V, Wagner, H, Rosende-Roca, M, Mauleón, A, Moreno-Grau, S, Vargas, L, Pijnenburg, Y AL, Koene, T, Rodríguez-Gómez, O, Ortega, G, Ruiz, S, Holstege, H, Sotolongo-Grau, O, Kornhuber, J, Peters, O, Frölich, L, Hüll, M, Rüther, E, Wiltfang, J, Scherer, M, Riedel-Heller, S, Alegret, M, Nöthen, M M, Scheltens, P, Wagner, M, Tárraga, L, Jessen, F, Boada, M, Maier, W, van der Flier, W M, Becker, T, Ramirez, A, and Ruiz, A
- Published
- 2017
- Full Text
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14. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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de Rojas, I. Moreno-Grau, S. Tesi, N. Grenier-Boley, B. Andrade, V. Jansen, I.E. Pedersen, N.L. Stringa, N. Zettergren, A. Hernández, I. Montrreal, L. Antúnez, C. Antonell, A. Tankard, R.M. Bis, J.C. Sims, R. Bellenguez, C. Quintela, I. González-Perez, A. Calero, M. Franco-Macías, E. Macías, J. Blesa, R. Cervera-Carles, L. Menéndez-González, M. Frank-García, A. Royo, J.L. Moreno, F. Huerto Vilas, R. Baquero, M. Diez-Fairen, M. Lage, C. García-Madrona, S. García-González, P. Alarcón-Martín, E. Valero, S. Sotolongo-Grau, O. Ullgren, A. Naj, A.C. Lemstra, A.W. Benaque, A. Pérez-Cordón, A. Benussi, A. Rábano, A. Padovani, A. Squassina, A. de Mendonça, A. Arias Pastor, A. Kok, A.A.L. Meggy, A. Pastor, A.B. Espinosa, A. Corma-Gómez, A. Martín Montes, A. Sanabria, Á. DeStefano, A.L. Schneider, A. Haapasalo, A. Kinhult Ståhlbom, A. Tybjærg-Hansen, A. Hartmann, A.M. Spottke, A. Corbatón-Anchuelo, A. Rongve, A. Borroni, B. Arosio, B. Nacmias, B. Nordestgaard, B.G. Kunkle, B.W. Charbonnier, C. Abdelnour, C. Masullo, C. Martínez Rodríguez, C. Muñoz-Fernandez, C. Dufouil, C. Graff, C. Ferreira, C.B. Chillotti, C. Reynolds, C.A. Fenoglio, C. Van Broeckhoven, C. Clark, C. Pisanu, C. Satizabal, C.L. Holmes, C. Buiza-Rueda, D. Aarsland, D. Rujescu, D. Alcolea, D. Galimberti, D. Wallon, D. Seripa, D. Grünblatt, E. Dardiotis, E. Düzel, E. Scarpini, E. Conti, E. Rubino, E. Gelpi, E. Rodriguez-Rodriguez, E. Duron, E. Boerwinkle, E. Ferri, E. Tagliavini, F. Küçükali, F. Pasquier, F. Sanchez-Garcia, F. Mangialasche, F. Jessen, F. Nicolas, G. Selbæk, G. Ortega, G. Chêne, G. Hadjigeorgiou, G. Rossi, G. Spalletta, G. Giaccone, G. Grande, G. Binetti, G. Papenberg, G. Hampel, H. Bailly, H. Zetterberg, H. Soininen, H. Karlsson, I.K. Alvarez, I. Appollonio, I. Giegling, I. Skoog, I. Saltvedt, I. Rainero, I. Rosas Allende, I. Hort, J. Diehl-Schmid, J. Van Dongen, J. Vidal, J.-S. Lehtisalo, J. Wiltfang, J. Thomassen, J.Q. Kornhuber, J. Haines, J.L. Vogelgsang, J. Pineda, J.A. Fortea, J. Popp, J. Deckert, J. Buerger, K. Morgan, K. Fließbach, K. Sleegers, K. Molina-Porcel, L. Kilander, L. Weinhold, L. Farrer, L.A. Wang, L.-S. Kleineidam, L. Farotti, L. Parnetti, L. Tremolizzo, L. Hausner, L. Benussi, L. Froelich, L. Ikram, M.A. Deniz-Naranjo, M.C. Tsolaki, M. Rosende-Roca, M. Löwenmark, M. Hulsman, M. Spallazzi, M. Pericak-Vance, M.A. Esiri, M. Bernal Sánchez-Arjona, M. Dalmasso, M.C. Martínez-Larrad, M.T. Arcaro, M. Nöthen, M.M. Fernández-Fuertes, M. Dichgans, M. Ingelsson, M. Herrmann, M.J. Scherer, M. Vyhnalek, M. Kosmidis, M.H. Yannakoulia, M. Schmid, M. Ewers, M. Heneka, M.T. Wagner, M. Scamosci, M. Kivipelto, M. Hiltunen, M. Zulaica, M. Alegret, M. Fornage, M. Roberto, N. van Schoor, N.M. Seidu, N.M. Banaj, N. Armstrong, N.J. Scarmeas, N. Scherbaum, N. Goldhardt, O. Hanon, O. Peters, O. Skrobot, O.A. Quenez, O. Lerch, O. Bossù, P. Caffarra, P. Dionigi Rossi, P. Sakka, P. Hoffmann, P. Holmans, P.A. Fischer, P. Riederer, P. Yang, Q. Marshall, R. Kalaria, R.N. Mayeux, R. Vandenberghe, R. Cecchetti, R. Ghidoni, R. Frikke-Schmidt, R. Sorbi, S. Hägg, S. Engelborghs, S. Helisalmi, S. Botne Sando, S. Kern, S. Archetti, S. Boschi, S. Fostinelli, S. Gil, S. Mendoza, S. Mead, S. Ciccone, S. Djurovic, S. Heilmann-Heimbach, S. Riedel-Heller, S. Kuulasmaa, T. del Ser, T. Lebouvier, T. Polak, T. Ngandu, T. Grimmer, T. Bessi, V. Escott-Price, V. Giedraitis, V. Deramecourt, V. Maier, W. Jian, X. Pijnenburg, Y.A.L. Smith, A.D. Saenz, A. Bizzarro, A. Lauria, A. Vacca, A. Solomon, A. Anastasiou, A. Richardson, A. Boland, A. Koivisto, A. Daniele, A. Greco, A. Marianthi, A. McGuinness, B. Fin, B. Ferrari, C. Custodero, C. Ferrarese, C. Ingino, C. Mangone, C. Reyes Toso, C. Martínez, C. Cuesta, C. Muchnik, C. Joachim, C. Ortiz, C. Besse, C. Johansson, C. Zoia, C.P. Laske, C. Anastasiou, C. Palacio, D.L. Politis, D.G. Janowitz, D. Craig, D. Mann, D.M. Neary, D. Jürgen, D. Daian, D. Belezhanska, D. Kohler, E. Castaño, E.M. Koutsouraki, E. Chipi, E. De Roeck, E. Costantini, E. Vardy, E.R.L.C. Piras, F. Roveta, F. Piras, F. Prestia, F.A. Assogna, F. Salani, F. Sala, G. Lacidogna, G. Novack, G. Wilcock, G. Thonberg, H. Kölsch, H. Weber, H. Boecker, H. Etchepareborda, I. Piaceri, I. Tuomilehto, J. Lindström, J. Laczo, J. Johnston, J. Deleuze, J.-F. Harris, J. Schott, J.M. Priller, J. Bacha, J.I. Snowden, J. Lisso, J. Mihova, K.Y. Traykov, L. Morelli, L. Brusco, L.I. Rainer, M. Takalo, M. Bjerke, M. Del Zompo, M. Serpente, M. Sanchez Abalos, M. Rios, M. Peltonen, M. Herrman, M.J. Kosmidis, M.H. Kohler, M. Rojo, M. Jones, M. Orsini, M. Medel, N. Olivar, N. Fox, N.C. Salvadori, N. Hooper, N.M. Galeano, P. Solis, P. Bastiani, P. Mecocci, P. Passmore, P. Heun, R. Antikainen, R. Olaso, R. Perneczky, R. Germani, S. López-García, S. Love, S. Mehrabian, S. Bagnoli, S. Kochen, S. Andreoni, S. Teipel, S. Todd, S. Pickering-Brown, S. Natunen, T. Tegos, T. Laatikainen, T. Strandberg, T. Polvikoski, T.M. Matoska, V. Ciullo, V. Cores, V. Solfrizzi, V. Lisetti, V. Sevillano, Z. Abdelnour, C. Aguilera, N. Alarcon, E. Alegret, M. Benaque, A. Boada, M. Buendia, M. Cañabate, P. Carracedo, A. Corbatón-Anchuelo, A. Diego, S. Espinosa, A. Gailhajenet, A. Gil, S. Guitart, M. Hernández, I. Ibarria, M. Lafuente, A. Macias, J. Maroñas, O. Martín, E. Martínez, M.T. Marquié, M. Mauleón, A. Montrreal, L. Moreno-Grau, S. Moreno, M. Orellana, A. Ortega, G. Pancho, A. Pelejá, E. Pérez-Cordon, A. Pineda, J.A. Preckler, S. Quintela, I. Real, L.M. Rosende-Roca, M. Ruiz, A. Sáez, M.E. Sanabria, A. Serrano-Rios, M. Sotolongo-Grau, O. Tárraga, L. Valero, S. Vargas, L. Adarmes-Gómez, A.D. Alarcón-Martín, E. Alonso, M.D. Álvarez, I. Álvarez, V. Amer-Ferrer, G. Antequera, M. Antúnez, C. Baquero, M. Bernal, M. Blesa, R. Boada, M. Buiza-Rueda, D. Bullido, M.J. Burguera, J.A. Calero, M. Carrillo, F. Carrión-Claro, M. Casajeros, M.J. Clarimón, J. Cruz-Gamero, J.M. de Pancorbo, M.M. del Ser, T. Diez-Fairen, M. Escuela, R. Garrote-Espina, L. Fortea, J. Franco-Macías, E. Frank-García, A. García-Alberca, J.M. Garcia Madrona, S. Garcia-Ribas, G. Gómez-Garre, P. Hernández, I. Hevilla, S. Jesús, S. Labrador Espinosa, M.A. Lage, C. Legaz, A. Lleó, A. Lopez de Munain, A. López-García, S. Macias-García, D. Manzanares, S. Marín, M. Marín-Muñoz, J. Marín, T. Marquié, M. Martín Montes, A. Martínez, B. Martínez, C. Martínez, V. Martínez-Lage Álvarez, P. Medina, M. Mendioroz Iriarte, M. Mir, P. Molinuevo, J.L. Pastor, P. Pérez Tur, J. Periñán-Tocino, T. Pineda-Sanchez, R. Piñol-Ripoll, G. Rábano, A. Real de Asúa, D. Rodrigo, S. Rodríguez-Rodríguez, E. Royo, J.L. Ruiz, A. Sanchez del Valle Díaz, R. Sánchez-Juan, P. Sastre, I. Valero, S. Vicente, M.P. Vigo-Ortega, R. Vivancos, L. Macleod, C. McCracken, C. Brayne, C. Bresner, C. Grozeva, D. Bellou, E. Sommerville, E.W. Matthews, F. Leonenko, G. Menzies, G. Windle, G. Harwood, J. Phillips, J. Bennett, K. Luckuck, L. Clare, L. Woods, R. Saad, S. Burholt, V. Jansen, I.E. Rongve, A. Kehoe, P.G. Garcia-Ribas, G. Sánchez-Juan, P. Pastor, P. Pérez-Tur, J. Piñol-Ripoll, G. Lopez de Munain, A. García-Alberca, J.M. Bullido, M.J. Álvarez, V. Lleó, A. Real, L.M. Scheltens, P. Holstege, H. Marquié, M. Sáez, M.E. Carracedo, Á. Amouyel, P. Schellenberg, G.D. Williams, J. Seshadri, S. van Duijn, C.M. Mather, K.A. Sánchez-Valle, R. Serrano-Ríos, M. Orellana, A. Tárraga, L. Blennow, K. Huisman, M. Andreassen, O.A. Posthuma, D. Clarimón, J. Boada, M. van der Flier, W.M. Ramirez, A. Lambert, J.-C. van der Lee, S.J. Ruiz, A. EADB contributors The GR@ACE study group DEGESCO consortium IGAP (ADGC, CHARGE, EADI, GERAD) PGC-ALZ consortia
- Abstract
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
- Published
- 2021
15. GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers
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Ramírez-Lorca, Reposo, Boada, M., Saez, M.E., Hernandez, I., Mauleon, A., Rosende-Roca, M., Martinez-Lage, P., Gutierrez, M., Real, L.M., Lopez-Arrieta, J., Gayan, J., Antunez, C., Gonzalez-Perez, A., Tarraga, L., and Ruiz, A.
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- 2009
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16. ATP5H/KCTD2 locus is associated with Alzheimerʼs disease risk
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Boada, M, Antúnez, C, Ramírez-Lorca, R, DeStefano, A L, González-Pérez, A, Gayán, J, López-Arrieta, J, Ikram, M A, Hernández, I, Marín, J, Galán, J J, Bis, J C, Mauleón, A, Rosende-Roca, M, Moreno-Rey, C, Gudnasson, V, Morón, F J, Velasco, J, Carrasco, J M, Alegret, M, Espinosa, A, Vinyes, G, Lafuente, A, Vargas, L, Fitzpatrick, A L, Launer, L J, Sáez, M E, Vázquez, E, Becker, J T, López, O L, Serrano-Ríos, M, Tárraga, L, van Duijn, C M, Real, L M, Seshadri, S, and Ruiz, A
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- 2014
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17. 1st Conference Clinical Trials on Alzheimer’s Disease September 17-18-19, 2008 School of Medecine Montpellier, France
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Gabelle, A., Roche, S., Gény, C., Portet, F., Touchon, J., Lehmann, S., De Meyer, G., Shapiro, F., Vanderstichele, H., Vanmechelen, E., Engelborghs, S., De Deyn, P. P., Shaw, L., Trojanowski, J., Nestor, S. M., Rupsingh, R., Borrie, M., Smith, M., Wells, J. L., Bartha, R., Blennow, K., De Meyer, G., Hansson, O., Minthon, L., Wallin, A., Zetterberg, H., Lewezuk, P., Vandertischele, H., Kornhuber, J., Wiltfang, J., Iqbal, K., Chalbot, S., Grundke-Iqbal, I., Gertz, H. J., Berwig, M., Leicht, H., Zhu, C. W., Leibman, C., Townsend, R., Mclaughlin, T., Scarmeas, N., Albert, M., Brandt, J., Blacker, D., Sano, M., Stern, Y., Bravo, G., Dubois, M. F., Hansel, S., Duguet, A. M., Robert, P. H., Deudon, A., Ake, N., Gervais, X., Leone, E., Lavallart, B., Amato, D., Zavitz, K., Green, R. C., Schneider, L. S., Swabb, E., Van Kan, G. Abellan, Carrie, I., Gillette, S., Soto, M. E., Gardette, J., Przybylski, C., Andrieu, S., Vellas, B., Dangour, A. D., Allen, E., Elbourne, D., Fletcher, A., Richards, M., Uauy, R., Green, R. C., Schneider, L. S., Zavitz, K. H., Wurtman, R. J., Peters, O., Lorenz, D., Möller, H. J., Frölich, L., Heuser, I., Vandenberghe, R., Thurfjell, L., Owenius, R., Brooks, D. J., Nelissen, N., Koole, M., Bormans, G., Van Laere, K., Boada, M., Muñoz, J., Tárraga, L., Ortiz, P., Hernández, I., Becker, J., López, O., Buendia, M., Pla, R., Grifols, J. R., Paez, A., Núñez, L., Ferrer, I., Lachno, D. R., De Groote, G., Kostanjevecki, V., Siemers, E. R., Willey, M. B., Ruiz, A., Ramírez-Lorca, R., Sáez, M. E., Mauleón, A., Rosende-Roca, M., Martínez-Lage, P., Gutiérrez, M., Real, L. Miguel, López-arrieta, J., Gayán, J., Antúnez, C., González-Pérez, A., Hugonot-Diener, L., Bchiri, J. El, Fraisse, M. L., Von Raison, F., Bone, M., Duron, E., Husson, J. M., Meeuwsen, E. J., Melis, R. J. F., Adang, E. M., Krabbe, P. F., Schölzel-Dorenbos, C. J. M., Ruckert, M. G. M. Olde, Truemner, J., Best, S., Lozanski, M., Nsiah, C., Wells, J., Tractenberg, R. E., Tractenberg, R. E., Chu, L. W., Yik, P. Y., Mok, W., Chung, C. P., Gauthier, S., Douillet, P., Doody, R., Fox, N. C., Orgogozo, J. M., Ingenbleek, Y., Bienvenu, J., Molloy, D. W., Standish, T., Cowan, D., Almeida, E., Diloreto, P., Woolmore-Goodwin, S., Clarke, J., Berardi, P., Smith, M., Purcell, T., Woolmore-Goodwin, S., Gutmanis, I., Borrie, M., Robert, P. H., Reynish, E., Cantet, C., Erder, M. H., Fillit, H., Hofbauer, R. K., Setyawan, J., Tourkodimitris, S., Fridman, M., Lyketsos, C., Unzeta, M., Valente, T., Hidalgo, J., Ramirez, B., Anglés, N., Morelló, J. R., Reguant, J., Boada, M., Claassen, J. A., Van Beek, A. H., Olde Rikkert, M. G., Roca, I., Cuberas, G., Castell, J., Buendia, M., Pla, R., Núñez, L., Ferrer, I., Latger, C., Tramoni, E., Elkhoury, C., Aubert-Khalfa, S., Ceccaldi, M., Schneeberger, A., Mandler, M., Otava, O., Mattner, F., Schmidt, W., Gatignol, P., David, C., Guitton, C., Plaza, M., Szaniszlo, P., German, P., Hajas, G., Kruzel, M., Boldogh, I., Wesnes, K., Satek, S., Turk, P., Satek, S., Vinay, M., Wetten, S., Li, H., Galwey, N., Gibson, R. A., Irizarry, M. C., Nourhashémi, F., Gillette-Guyonnet, S., Andrieu, S., Rolland, Y., Ousset, P. J., Verwey, N. A., Blennow, K., Clark, C., Cole, G. M., De Deyn, P. P., Galasko, D., Hampel, H., Hartmann, T., Kapaki, E., Lannfelt, L., Mehta, P. D., Parnetti, L., Petzold, A., Pirttila, T., Saleh, L., Skinningsrud, A., Swieten, J. C. V., Verbeek, M. M., Wiltfang, J., Younkin, S., Blankenstein, M. A., Ishihara-Paul, L., Viswanathan, A., Allen, J. K., Hyman, B. T., Betensky, R., Weil, J., The Alzheimer’s Disease Neuroimaging Initiative, The MAPT Study Investigators, The Xaliproden Ad Study Team, and the PLASA Group
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- 2008
- Full Text
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18. Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease
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DeMichele-Sweet, M.A.A. Klei, L. Creese, B. Harwood, J.C. Weamer, E.A. McClain, L. Sims, R. Hernandez, I. Moreno-Grau, S. Tárraga, L. Boada, M. Alarcón-Martín, E. Valero, S. Liu, Y. Hooli, B. Aarsland, D. Selbaek, G. Bergh, S. Rongve, A. Saltvedt, I. Skjellegrind, H.K. Engdahl, B. Stordal, E. Andreassen, O.A. Djurovic, S. Athanasiu, L. Seripa, D. Borroni, B. Albani, D. Forloni, G. Mecocci, P. Serretti, A. De Ronchi, D. Politis, A. Williams, J. Mayeux, R. Foroud, T. Ruiz, A. Ballard, C. Holmans, P. Lopez, O.L. Kamboh, M.I. Devlin, B. Sweet, R.A. NIA-LOAD Family Based Study Consortium, Alzheimer's Disease Genetics Consortium (ADGC) and DeMichele-Sweet, M.A.A. Klei, L. Creese, B. Harwood, J.C. Weamer, E.A. McClain, L. Sims, R. Hernandez, I. Moreno-Grau, S. Tárraga, L. Boada, M. Alarcón-Martín, E. Valero, S. Liu, Y. Hooli, B. Aarsland, D. Selbaek, G. Bergh, S. Rongve, A. Saltvedt, I. Skjellegrind, H.K. Engdahl, B. Stordal, E. Andreassen, O.A. Djurovic, S. Athanasiu, L. Seripa, D. Borroni, B. Albani, D. Forloni, G. Mecocci, P. Serretti, A. De Ronchi, D. Politis, A. Williams, J. Mayeux, R. Foroud, T. Ruiz, A. Ballard, C. Holmans, P. Lopez, O.L. Kamboh, M.I. Devlin, B. Sweet, R.A. NIA-LOAD Family Based Study Consortium, Alzheimer's Disease Genetics Consortium (ADGC)
- Published
- 2021
19. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I.E., Pedersen, N.L., Stringa, N., Zettergren, A., Hernández, I., Montrreal, L., Antúnez, C., Antonell, A., Tankard, R.M., Bis, J.C., Sims, R., Bellenguez, C., Quintela, I., González-Perez, A., Calero, M., Franco-Macías, E., Macías, J., Blesa, R., Cervera-Carles, L., Menéndez-González, M., Frank-García, A., Royo, J.L., Moreno, F., Huerto Vilas, R., Baquero, M., Diez-Fairen, M., Lage, C., García-Madrona, S., García-González, P., Alarcón-Martín, E., Valero, S., Sotolongo-Grau, O., Ullgren, A., Naj, A.C., Lemstra, A.W., Benaque, A., Pérez-Cordón, A., Benussi, A., Rábano, A., Padovani, A., Squassina, A., de Mendonça, A., Arias Pastor, A., Kok, A.A.L., Meggy, A., Pastor, A.B., Espinosa, A., Corma-Gómez, A., Martín Montes, A., Sanabria, Á., DeStefano, A.L., Schneider, A., Haapasalo, A., Kinhult Ståhlbom, A., Tybjærg-Hansen, A., Hartmann, A.M., Spottke, A., Corbatón-Anchuelo, A., Rongve, A., Borroni, B., Arosio, B., Nacmias, B., Nordestgaard, B.G., Kunkle, B.W., Charbonnier, C., Abdelnour, C., Masullo, C., Martínez Rodríguez, C., Muñoz-Fernandez, C., Dufouil, C., Graff, C., Ferreira, C.B., Chillotti, C., Reynolds, C.A., Fenoglio, C., Van Broeckhoven, C., Clark, C., Pisanu, C., Satizabal, C.L., Holmes, C., Buiza-Rueda, D., Aarsland, D., Rujescu, D., Alcolea, D., Galimberti, D., Wallon, D., Seripa, D., Grünblatt, E., Dardiotis, E., Düzel, E., Scarpini, E., Conti, E., Rubino, E., Gelpi, E., Rodriguez-Rodriguez, E., Duron, E., Boerwinkle, E., Ferri, E., Tagliavini, F., Küçükali, F., Pasquier, F., Sanchez-Garcia, F., Mangialasche, F., Jessen, F., Nicolas, G., Selbæk, G., Ortega, G., Chêne, G., Hadjigeorgiou, G., Rossi, G, Spalletta, G., Giaccone, G., Grande, G., Binetti, G., Papenberg, G., Hampel, H., Bailly, H., Zetterberg, H., Soininen, H., Karlsson, I.K., Alvarez, I., Appollonio, I., Giegling, I., Skoog, I., Saltvedt, I., Rainero, I., Rosas Allende, I., Hort, J., Diehl-Schmid, J., Van Dongen, J., Vidal, J-S, Lehtisalo, J., Wiltfang, J., Thomassen, J.Q., Kornhuber, J., Haines, J.L., Vogelgsang, J., Pineda, J.A., Fortea, J., Popp, J., Deckert, J., Buerger, K., Morgan, K., Fließbach, K., Sleegers, K., Molina-Porcel, L., Kilander, L., Weinhold, L., Farrer, L.A., Wang, L-S, Kleineidam, L., Farotti, L., Parnetti, L., Tremolizzo, L., Hausner, L., Benussi, L., Froelich, L., Ikram, M.A., Deniz-Naranjo, M.C., Tsolaki, M., Rosende-Roca, M., Löwenmark, M., Hulsman, M., Spallazzi, M., Pericak-Vance, M.A., Esiri, M., Bernal Sánchez-Arjona, M., Dalmasso, M.C., Martínez-Larrad, M.T., Arcaro, M., Nöthen, M.M., Fernández-Fuertes, M., Dichgans, M., Ingelsson, M., Herrmann, M.J., Scherer, M., Vyhnalek, M., Kosmidis, M.H., Yannakoulia, M., Schmid, M., Ewers, M., Heneka, M.T., Wagner, M., Scamosci, M., Kivipelto, M., Hiltunen, M., Zulaica, M., Alegret, M., Fornage, M., Roberto, N., van Schoor, N.M., Seidu, N.M., Banaj, N., Armstrong, N.J., Scarmeas, N., Scherbaum, N., Goldhardt, O., Hanon, O., Peters, O., Skrobot, O.A., Quenez, O., Lerch, O., Bossù, P., Caffarra, P., Dionigi Rossi, P., Sakka, P., Hoffmann, P., Holmans, P.A., Fischer, P., Riederer, P., Yang, Q., Marshall, R., Kalaria, R.N., Mayeux, R., Vandenberghe, R., Cecchetti, R., Ghidoni, R., Frikke-Schmidt, R., Sorbi, S., Hägg, S., Engelborghs, S., Helisalmi, S., Botne Sando, S., Kern, S., Archetti, S., Boschi, S., Fostinelli, S., Gil, S., Mendoza, S., Mead, S., Ciccone, S., Djurovic, S., Heilmann-Heimbach, S., Riedel-Heller, S., Kuulasmaa, T., del Ser, T., Lebouvier, T., Polak, T., Ngandu, T., Grimmer, T., Bessi, V., Escott-Price, V., Giedraitis, V., Deramecourt, V., Maier, W., Jian, X., Pijnenburg, Y.A.L., Smith, A.D., Saenz, A., Bizzarro, A., Lauria, A., Vacca, A., Solomon, A., Anastasiou, A., Richardson, A., Boland, A., Koivisto, A., Daniele, A., Greco, A., Marianthi, A., McGuinness, B., Fin, B., Ferrari, Ca., Custodero, C., Ferrarese, C., Ingino, C., Mangone, C., Reyes Toso, C., Martinez, C., Cuesta, C., Muchnik, C., Joachim, C., Ortiz, C., Besse, C., Johansson, C., Zoia, C.P., Laske, C., Anastasiou, C., Palacio, D.L., Politis, D.G., Janowitz, D., Craig, D., Mann, D.M., Neary, D., Jürgen, D., Daian, D., Belezhanska, D., Kohler, E., Castaño, E.M., Koutsouraki, E., Chipi, E., De Roeck, E., Costantini, E., Vardy, E.R.L.C., Piras, F., Roveta, F., Prestia, F.A., Assogna, F., Salani, F., Sala, G., Lacidogna, G., Novack, G., Wilcock, G., Thonberg, H., Kölsch, H., Weber, H., Boecker, H., Etchepareborda, I., Piaceri, I., Tuomilehto, J., Lindström, J., Laczo, J., Johnston, J., Deleuze, J-F, Harris, J., Schott, J.M., Priller, J., Bacha, J.I., Snowden, J., Lisso, J., Mihova, K.Y., Traykov, L., Morelli, L., Brusco, L.I., Rainer, M., Takalo, M., Bjerke, M., Del Zompo, M., Serpente, M., Sanchez Abalos, M., Rios, M., Peltonen, M., Herrman, M.J., Kohler, M., Rojo, M., Jones, M., Orsini, M., Medel, N., Olivar, N., Fox, N.C., Salvadori, N., Hooper, N.M., Galeano, P., Solis, P., Bastiani, P., Mecocci, P., Passmore, P., Heun, R., Antikainen, R., Olaso, R., Perneczky, R., Germani, S., López-García, S., Love, S., Mehrabian, S., Bagnoli, S., Kochen, S., Andreoni, S., Teipel, S., Todd, S., Pickering-Brown, S., Natunen, T., Tegos, T., Laatikainen, T., Strandberg, T., Polvikoski, T.M., Matoska, V., Ciullo, V., Cores, V., Solfrizzi, V., Lisetti, V., Sevillano, Z., Aguilera, N., Alarcon, E., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Diego, S., Gailhajenet, A., Guitart, M., González-Pérez, A., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M. T., Marquié, M., Mauleón, A., Moreno, M., Orellana, A., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J. A., Preckler, S., Real, L. M., Ruiz, A., Sáez, M. E., Sanabria, A., Serrano-Rios, M., Tárraga, L., Vargas, L., Adarmes-Gómez, A. D., Alonso, M. D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Bernal, M., Bullido, M.J., Burguera, J.A., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., Escuela, R., Garrote-Espina, L., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M.A., Legaz, A., Lleó, A., Lopez de Munain, A., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Mir, P., Molinuevo, J.L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, C., Bresner, C., Grozeva, D., Bellou, E., Sommerville, E.W., Matthews, F., Leonenko, G., Menzies, G., Windle, G., Harwood, J., Phillips, J., Bennett, K., Luckuck, L., Clare, L., Woods, R., Saad, S., Burholt, V., Kehoe, P.G., Pérez-Tur, J., Real, L.M., Scheltens, P., Holstege, H., Sáez, M.E., Carracedo, Á., Amouyel, P., Schellenberg, G.D., Williams, J., Seshadri, S., van Duijn, C.M., Mather, K.A., Sánchez-Valle, R., Serrano-Ríos, M., Blennow, K., Huisman, M., Andreassen, O.A., Posthuma, D., van der Flier, W.M., Ramirez, A., Lambert, J-C, van der Lee, S.J., de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I.E., Pedersen, N.L., Stringa, N., Zettergren, A., Hernández, I., Montrreal, L., Antúnez, C., Antonell, A., Tankard, R.M., Bis, J.C., Sims, R., Bellenguez, C., Quintela, I., González-Perez, A., Calero, M., Franco-Macías, E., Macías, J., Blesa, R., Cervera-Carles, L., Menéndez-González, M., Frank-García, A., Royo, J.L., Moreno, F., Huerto Vilas, R., Baquero, M., Diez-Fairen, M., Lage, C., García-Madrona, S., García-González, P., Alarcón-Martín, E., Valero, S., Sotolongo-Grau, O., Ullgren, A., Naj, A.C., Lemstra, A.W., Benaque, A., Pérez-Cordón, A., Benussi, A., Rábano, A., Padovani, A., Squassina, A., de Mendonça, A., Arias Pastor, A., Kok, A.A.L., Meggy, A., Pastor, A.B., Espinosa, A., Corma-Gómez, A., Martín Montes, A., Sanabria, Á., DeStefano, A.L., Schneider, A., Haapasalo, A., Kinhult Ståhlbom, A., Tybjærg-Hansen, A., Hartmann, A.M., Spottke, A., Corbatón-Anchuelo, A., Rongve, A., Borroni, B., Arosio, B., Nacmias, B., Nordestgaard, B.G., Kunkle, B.W., Charbonnier, C., Abdelnour, C., Masullo, C., Martínez Rodríguez, C., Muñoz-Fernandez, C., Dufouil, C., Graff, C., Ferreira, C.B., Chillotti, C., Reynolds, C.A., Fenoglio, C., Van Broeckhoven, C., Clark, C., Pisanu, C., Satizabal, C.L., Holmes, C., Buiza-Rueda, D., Aarsland, D., Rujescu, D., Alcolea, D., Galimberti, D., Wallon, D., Seripa, D., Grünblatt, E., Dardiotis, E., Düzel, E., Scarpini, E., Conti, E., Rubino, E., Gelpi, E., Rodriguez-Rodriguez, E., Duron, E., Boerwinkle, E., Ferri, E., Tagliavini, F., Küçükali, F., Pasquier, F., Sanchez-Garcia, F., Mangialasche, F., Jessen, F., Nicolas, G., Selbæk, G., Ortega, G., Chêne, G., Hadjigeorgiou, G., Rossi, G, Spalletta, G., Giaccone, G., Grande, G., Binetti, G., Papenberg, G., Hampel, H., Bailly, H., Zetterberg, H., Soininen, H., Karlsson, I.K., Alvarez, I., Appollonio, I., Giegling, I., Skoog, I., Saltvedt, I., Rainero, I., Rosas Allende, I., Hort, J., Diehl-Schmid, J., Van Dongen, J., Vidal, J-S, Lehtisalo, J., Wiltfang, J., Thomassen, J.Q., Kornhuber, J., Haines, J.L., Vogelgsang, J., Pineda, J.A., Fortea, J., Popp, J., Deckert, J., Buerger, K., Morgan, K., Fließbach, K., Sleegers, K., Molina-Porcel, L., Kilander, L., Weinhold, L., Farrer, L.A., Wang, L-S, Kleineidam, L., Farotti, L., Parnetti, L., Tremolizzo, L., Hausner, L., Benussi, L., Froelich, L., Ikram, M.A., Deniz-Naranjo, M.C., Tsolaki, M., Rosende-Roca, M., Löwenmark, M., Hulsman, M., Spallazzi, M., Pericak-Vance, M.A., Esiri, M., Bernal Sánchez-Arjona, M., Dalmasso, M.C., Martínez-Larrad, M.T., Arcaro, M., Nöthen, M.M., Fernández-Fuertes, M., Dichgans, M., Ingelsson, M., Herrmann, M.J., Scherer, M., Vyhnalek, M., Kosmidis, M.H., Yannakoulia, M., Schmid, M., Ewers, M., Heneka, M.T., Wagner, M., Scamosci, M., Kivipelto, M., Hiltunen, M., Zulaica, M., Alegret, M., Fornage, M., Roberto, N., van Schoor, N.M., Seidu, N.M., Banaj, N., Armstrong, N.J., Scarmeas, N., Scherbaum, N., Goldhardt, O., Hanon, O., Peters, O., Skrobot, O.A., Quenez, O., Lerch, O., Bossù, P., Caffarra, P., Dionigi Rossi, P., Sakka, P., Hoffmann, P., Holmans, P.A., Fischer, P., Riederer, P., Yang, Q., Marshall, R., Kalaria, R.N., Mayeux, R., Vandenberghe, R., Cecchetti, R., Ghidoni, R., Frikke-Schmidt, R., Sorbi, S., Hägg, S., Engelborghs, S., Helisalmi, S., Botne Sando, S., Kern, S., Archetti, S., Boschi, S., Fostinelli, S., Gil, S., Mendoza, S., Mead, S., Ciccone, S., Djurovic, S., Heilmann-Heimbach, S., Riedel-Heller, S., Kuulasmaa, T., del Ser, T., Lebouvier, T., Polak, T., Ngandu, T., Grimmer, T., Bessi, V., Escott-Price, V., Giedraitis, V., Deramecourt, V., Maier, W., Jian, X., Pijnenburg, Y.A.L., Smith, A.D., Saenz, A., Bizzarro, A., Lauria, A., Vacca, A., Solomon, A., Anastasiou, A., Richardson, A., Boland, A., Koivisto, A., Daniele, A., Greco, A., Marianthi, A., McGuinness, B., Fin, B., Ferrari, Ca., Custodero, C., Ferrarese, C., Ingino, C., Mangone, C., Reyes Toso, C., Martinez, C., Cuesta, C., Muchnik, C., Joachim, C., Ortiz, C., Besse, C., Johansson, C., Zoia, C.P., Laske, C., Anastasiou, C., Palacio, D.L., Politis, D.G., Janowitz, D., Craig, D., Mann, D.M., Neary, D., Jürgen, D., Daian, D., Belezhanska, D., Kohler, E., Castaño, E.M., Koutsouraki, E., Chipi, E., De Roeck, E., Costantini, E., Vardy, E.R.L.C., Piras, F., Roveta, F., Prestia, F.A., Assogna, F., Salani, F., Sala, G., Lacidogna, G., Novack, G., Wilcock, G., Thonberg, H., Kölsch, H., Weber, H., Boecker, H., Etchepareborda, I., Piaceri, I., Tuomilehto, J., Lindström, J., Laczo, J., Johnston, J., Deleuze, J-F, Harris, J., Schott, J.M., Priller, J., Bacha, J.I., Snowden, J., Lisso, J., Mihova, K.Y., Traykov, L., Morelli, L., Brusco, L.I., Rainer, M., Takalo, M., Bjerke, M., Del Zompo, M., Serpente, M., Sanchez Abalos, M., Rios, M., Peltonen, M., Herrman, M.J., Kohler, M., Rojo, M., Jones, M., Orsini, M., Medel, N., Olivar, N., Fox, N.C., Salvadori, N., Hooper, N.M., Galeano, P., Solis, P., Bastiani, P., Mecocci, P., Passmore, P., Heun, R., Antikainen, R., Olaso, R., Perneczky, R., Germani, S., López-García, S., Love, S., Mehrabian, S., Bagnoli, S., Kochen, S., Andreoni, S., Teipel, S., Todd, S., Pickering-Brown, S., Natunen, T., Tegos, T., Laatikainen, T., Strandberg, T., Polvikoski, T.M., Matoska, V., Ciullo, V., Cores, V., Solfrizzi, V., Lisetti, V., Sevillano, Z., Aguilera, N., Alarcon, E., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Diego, S., Gailhajenet, A., Guitart, M., González-Pérez, A., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M. T., Marquié, M., Mauleón, A., Moreno, M., Orellana, A., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J. A., Preckler, S., Real, L. M., Ruiz, A., Sáez, M. E., Sanabria, A., Serrano-Rios, M., Tárraga, L., Vargas, L., Adarmes-Gómez, A. D., Alonso, M. D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Bernal, M., Bullido, M.J., Burguera, J.A., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., Escuela, R., Garrote-Espina, L., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M.A., Legaz, A., Lleó, A., Lopez de Munain, A., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Mir, P., Molinuevo, J.L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, C., Bresner, C., Grozeva, D., Bellou, E., Sommerville, E.W., Matthews, F., Leonenko, G., Menzies, G., Windle, G., Harwood, J., Phillips, J., Bennett, K., Luckuck, L., Clare, L., Woods, R., Saad, S., Burholt, V., Kehoe, P.G., Pérez-Tur, J., Real, L.M., Scheltens, P., Holstege, H., Sáez, M.E., Carracedo, Á., Amouyel, P., Schellenberg, G.D., Williams, J., Seshadri, S., van Duijn, C.M., Mather, K.A., Sánchez-Valle, R., Serrano-Ríos, M., Blennow, K., Huisman, M., Andreassen, O.A., Posthuma, D., van der Flier, W.M., Ramirez, A., Lambert, J-C, and van der Lee, S.J.
- Abstract
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease.
- Published
- 2021
20. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
- Author
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de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernández, I, Montrreal, L, Antúnez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, González-Perez, A, Calero, M, Franco-Macías, E, Macías, J, Blesa, R, Cervera-Carles, L, Menéndez-González, M, Frank-García, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, García-Madrona, S, García-González, P, Alarcón-Martín, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Pérez-Cordón, A, Benussi, A, Rábano, A, Padovani, A, Squassina, A, de Mendonça, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gómez, A, Martín Montes, A, Sanabria, Á, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Ståhlbom, A, Tybjærg-Hansen, A, Hartmann, A, Spottke, A, Corbatón-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martínez Rodríguez, C, Muñoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grünblatt, E, Dardiotis, E, Düzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Küçükali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbæk, G, Ortega, G, Chêne, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fließbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Löwenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sánchez-Arjona, M, Dalmasso, M, Martínez-Larrad, M, Arcaro, M, Nöthen, M, Fernández-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossù, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hägg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, Del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Kehoe, P, Garcia-Ribas, G, Sánchez-Juan, P, Pastor, P, Pérez-Tur, J, Piñol-Ripoll, G, Lopez de Munain, A, García-Alberca, J, Bullido, M, Álvarez, V, Lleó, A, Real, L, Mir, P, Medina, M, Scheltens, P, Holstege, H, Marquié, M, Sáez, M, Carracedo, Á, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sánchez-Valle, R, Serrano-Ríos, M, Orellana, A, Tárraga, L, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, Clarimón, J, Boada, M, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, Ruiz, A, de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E, Pedersen, Nancy L, Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M, Bis, Joshua C, Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A L, Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anas, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L, Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M, Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Kunkle, Brian W, Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B, Chillotti, Caterina, Reynolds, Chandra A, Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K, Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L, Vogelgsang, Jonathan, Pineda, Juan A, Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M Arfan, Deniz-Naranjo, M Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A, Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M, Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J, Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H, Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T, Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M, Seidu, Nazib M, Banaj, Nerisa, Armstrong, Nicola J, Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Hoffmann, Per, Holmans, Peter A, Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N, Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, Del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A L, Andreoni, Simona, Ferrarese, Carlo, Sala Gessica, Zoia, Chiara Paola, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J, Álvarez, Victoria, Lleó, Alberto, Real, Luis M, Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D, Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M, Mather, Karen A, Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A, Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M, Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J, Ruiz, Agustín, de Rojas, I, Moreno-Grau, S, Tesi, N, Grenier-Boley, B, Andrade, V, Jansen, I, Pedersen, N, Stringa, N, Zettergren, A, Hernández, I, Montrreal, L, Antúnez, C, Antonell, A, Tankard, R, Bis, J, Sims, R, Bellenguez, C, Quintela, I, González-Perez, A, Calero, M, Franco-Macías, E, Macías, J, Blesa, R, Cervera-Carles, L, Menéndez-González, M, Frank-García, A, Royo, J, Moreno, F, Huerto Vilas, R, Baquero, M, Diez-Fairen, M, Lage, C, García-Madrona, S, García-González, P, Alarcón-Martín, E, Valero, S, Sotolongo-Grau, O, Ullgren, A, Naj, A, Lemstra, A, Benaque, A, Pérez-Cordón, A, Benussi, A, Rábano, A, Padovani, A, Squassina, A, de Mendonça, A, Arias Pastor, A, Kok, A, Meggy, A, Pastor, A, Espinosa, A, Corma-Gómez, A, Martín Montes, A, Sanabria, Á, Destefano, A, Schneider, A, Haapasalo, A, Kinhult Ståhlbom, A, Tybjærg-Hansen, A, Hartmann, A, Spottke, A, Corbatón-Anchuelo, A, Rongve, A, Borroni, B, Arosio, B, Nacmias, B, Nordestgaard, B, Kunkle, B, Charbonnier, C, Abdelnour, C, Masullo, C, Martínez Rodríguez, C, Muñoz-Fernandez, C, Dufouil, C, Graff, C, Ferreira, C, Chillotti, C, Reynolds, C, Fenoglio, C, Van Broeckhoven, C, Clark, C, Pisanu, C, Satizabal, C, Holmes, C, Buiza-Rueda, D, Aarsland, D, Rujescu, D, Alcolea, D, Galimberti, D, Wallon, D, Seripa, D, Grünblatt, E, Dardiotis, E, Düzel, E, Scarpini, E, Conti, E, Rubino, E, Gelpi, E, Rodriguez-Rodriguez, E, Duron, E, Boerwinkle, E, Ferri, E, Tagliavini, F, Küçükali, F, Pasquier, F, Sanchez-Garcia, F, Mangialasche, F, Jessen, F, Nicolas, G, Selbæk, G, Ortega, G, Chêne, G, Hadjigeorgiou, G, Rossi, G, Spalletta, G, Giaccone, G, Grande, G, Binetti, G, Papenberg, G, Hampel, H, Bailly, H, Zetterberg, H, Soininen, H, Karlsson, I, Alvarez, I, Appollonio, I, Giegling, I, Skoog, I, Saltvedt, I, Rainero, I, Rosas Allende, I, Hort, J, Diehl-Schmid, J, Van Dongen, J, Vidal, J, Lehtisalo, J, Wiltfang, J, Thomassen, J, Kornhuber, J, Haines, J, Vogelgsang, J, Pineda, J, Fortea, J, Popp, J, Deckert, J, Buerger, K, Morgan, K, Fließbach, K, Sleegers, K, Molina-Porcel, L, Kilander, L, Weinhold, L, Farrer, L, Wang, L, Kleineidam, L, Farotti, L, Parnetti, L, Tremolizzo, L, Hausner, L, Benussi, L, Froelich, L, Ikram, M, Deniz-Naranjo, M, Tsolaki, M, Rosende-Roca, M, Löwenmark, M, Hulsman, M, Spallazzi, M, Pericak-Vance, M, Esiri, M, Bernal Sánchez-Arjona, M, Dalmasso, M, Martínez-Larrad, M, Arcaro, M, Nöthen, M, Fernández-Fuertes, M, Dichgans, M, Ingelsson, M, Herrmann, M, Scherer, M, Vyhnalek, M, Kosmidis, M, Yannakoulia, M, Schmid, M, Ewers, M, Heneka, M, Wagner, M, Scamosci, M, Kivipelto, M, Hiltunen, M, Zulaica, M, Alegret, M, Fornage, M, Roberto, N, van Schoor, N, Seidu, N, Banaj, N, Armstrong, N, Scarmeas, N, Scherbaum, N, Goldhardt, O, Hanon, O, Peters, O, Skrobot, O, Quenez, O, Lerch, O, Bossù, P, Caffarra, P, Dionigi Rossi, P, Sakka, P, Hoffmann, P, Holmans, P, Fischer, P, Riederer, P, Yang, Q, Marshall, R, Kalaria, R, Mayeux, R, Vandenberghe, R, Cecchetti, R, Ghidoni, R, Frikke-Schmidt, R, Sorbi, S, Hägg, S, Engelborghs, S, Helisalmi, S, Botne Sando, S, Kern, S, Archetti, S, Boschi, S, Fostinelli, S, Gil, S, Mendoza, S, Mead, S, Ciccone, S, Djurovic, S, Heilmann-Heimbach, S, Riedel-Heller, S, Kuulasmaa, T, Del Ser, T, Lebouvier, T, Polak, T, Ngandu, T, Grimmer, T, Bessi, V, Escott-Price, V, Giedraitis, V, Deramecourt, V, Maier, W, Jian, X, Pijnenburg, Y, Andreoni, S, Ferrarese, C, Sala, G, Zoia, C, Kehoe, P, Garcia-Ribas, G, Sánchez-Juan, P, Pastor, P, Pérez-Tur, J, Piñol-Ripoll, G, Lopez de Munain, A, García-Alberca, J, Bullido, M, Álvarez, V, Lleó, A, Real, L, Mir, P, Medina, M, Scheltens, P, Holstege, H, Marquié, M, Sáez, M, Carracedo, Á, Amouyel, P, Schellenberg, G, Williams, J, Seshadri, S, van Duijn, C, Mather, K, Sánchez-Valle, R, Serrano-Ríos, M, Orellana, A, Tárraga, L, Blennow, K, Huisman, M, Andreassen, O, Posthuma, D, Clarimón, J, Boada, M, van der Flier, W, Ramirez, A, Lambert, J, van der Lee, S, Ruiz, A, de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E, Pedersen, Nancy L, Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M, Bis, Joshua C, Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C, Lemstra, Afina W, Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A L, Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anas, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L, Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M, Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G, Kunkle, Brian W, Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B, Chillotti, Caterina, Reynolds, Chandra A, Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K, Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L, Vogelgsang, Jonathan, Pineda, Juan A, Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A, Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M Arfan, Deniz-Naranjo, M Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A, Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M, Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J, Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H, Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T, Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M, Seidu, Nazib M, Banaj, Nerisa, Armstrong, Nicola J, Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Hoffmann, Per, Holmans, Peter A, Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N, Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, Del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A L, Andreoni, Simona, Ferrarese, Carlo, Sala Gessica, Zoia, Chiara Paola, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J, Álvarez, Victoria, Lleó, Alberto, Real, Luis M, Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D, Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M, Mather, Karen A, Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A, Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M, Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J, and Ruiz, Agustín
- Abstract
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease.
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- 2021
21. A novel Alzheimer disease locus located near the gene encoding tau protein
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Jun, G, Ibrahim-Verbaas, CA, Vronskaya, M, Lambert, J-C, Chung, J, Naj, AC, Kunkle, BW, Wang, L-S, Bis, JC, Bellenguez, C, Harold, D, Lunetta, KL, Destefano, AL, Grenier-Boley, B, Sims, R, Beecham, GW, Smith, AV, Chouraki, V, Hamilton-Nelson, KL, Ikram, MA, Fievet, N, Denning, N, Martin, ER, Schmidt, H, Kamatani, Y, Dunstan, ML, Valladares, O, Laza, AR, Zelenika, D, Ramirez, A, Foroud, TM, Choi, S-H, Boland, A, Becker, T, Kukull, WA, Van Der Lee, SJ, Pasquier, F, Cruchaga, C, Beekly, D, Fitzpatrick, AL, Hanon, O, Gill, M, Barber, R, Gudnason, V, Campion, D, Love, S, Bennett, DA, Amin, N, Berr, C, Tsolaki, Magda, Buxbaum, JD, Lopez, OL, Deramecourt, V, Fox, NC, Cantwell, LB, Tárraga, L, Dufouil, C, Hardy, J, Crane, PK, Eiriksdottir, G, Hannequin, D, Clarke, R, Evans, D, Mosley, TH, Letenneur, L, Brayne, C, Maier, W, De Jager, P, Emilsson, V, Dartigues, J-F, Hampel, H, Kamboh, MI, De Bruijn, RFAG, Tzourio, C, Pastor, P, Larson, EB, Rotter, JI, O'Donovan, MC, Montine, TJ, Nalls, MA, Mead, S, Reiman, EM, Jonsson, PV, Holmes, C, St George-Hyslop, PH, Boada, M, Passmore, P, Wendland, Schmidt, R, Morgan, K, Winslow, AR, Powell, JF, Carasquillo, M, Younkin, SG, Jakobsdóttir, J, Kauwe, JSK, Wilhelmsen, KC, Rujescu, D, Nöthen, MM, Hofman, A, Jones, L, IGAP Consortium, Haines, JL, Psaty, BM, Van Broeckhoven, C, Holmans, P, Launer, LJ, Mayeux, R, Lathrop, M, Goate, AM, Escott-Price, V, Seshadri, S, Pericak-Vance, MA, Amouyel, P, Williams, J, Van Duijn, CM, Schellenberg, GD, Farrer, LA, Chouraki, V [0000-0002-4698-1794], Amouyel, P [0000-0001-9088-234X], and Apollo - University of Cambridge Repository
- Subjects
Alzheimer Disease ,Apolipoprotein E4 ,Humans ,tau Proteins ,Polymorphism, Single Nucleotide ,Chromosomes, Human, Pair 17 ,Genome-Wide Association Study - Abstract
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ɛ4+ (10 352 cases and 9207 controls) and APOE ɛ4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ɛ4 status. Suggestive associations (P
- Published
- 2019
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22. A randomised pilot study to assess the efficacy of an interactive, multimedia tool of cognitive stimulation in Alzheimer’s disease
- Author
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Tárraga, L, Boada, M, Modinos, G, Espinosa, A, Diego, S, Morera, A, Guitart, M, Balcells, J, López, O L, and Becker, J T
- Published
- 2006
23. Risk factors for non-vancomycin-resistant enterococcus faecium infection
- Author
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Jiménez, R, Ortín, A, Rebollo, S, Herrera, L, Fernández, A, Galindo, M, Moreno, S, Ojados, A, Tárraga, L, Bonilla, Y, Sánchez-Argente, S, Ortíz, MM, Del Amor, MJ, and Allegue, JM
- Published
- 2015
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24. Outcome of patients with initial non-mechanical ventilation management in severe pneumonia
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Ortín, A, Jiménez, R, Rebollo, S, Herrera, L, Moreno, S, Fernández, A, Galindo, M, Murcia, J, Tárraga, L, Ojados, A, Téllez, OM, Contreras, M, Rodríguez, MD, and Allegue, JM
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- 2015
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25. Plasma Aß42/40 ratio alone or combined with FDG-PET can accurately predict amyloid-PET positivity: a cross-sectional analysis from the AB255 Study
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Pérez-Grijalba V, Arbizu J, Romero J, Prieto E, Pesini P, Sarasa L, Guillen F, Monleón I, San-José I, Martínez-Lage P, Munuera J, Hernández I, Buendía M, Sotolongo-Grau O, Alegret M, Ruiz-Llobet A, Tárraga L, Boada M, and Sarasa M
- Subjects
Amyloid-PET ,FDG-PET ,Amyloid-beta ,Mild cognitive impairment ,Plasma ,Biomarker ,Preclinical Alzheimer’s disease - Abstract
BACKGROUND: To facilitate population screening and clinical trials of disease-modifying therapies for Alzheimer's disease, supportive biomarker information is necessary. This study was aimed to investigate the association of plasma amyloid-beta (Aß) levels with the presence of pathological accumulation of Aß in the brain measured by amyloid-PET. Both plasma Aß42/40 ratio alone or combined with an FDG-PET-based biomarker of neurodegeneration were assessed as potential AD biomarkers. METHODS: We included 39 cognitively normal subjects and 20 patients with mild cognitive impairment from the AB255 Study who had undergone PiB-PET scans. Total Aß40 and Aß42 levels in plasma (TP42/40) were quantified using ABtest kits. Subjects were dichotomized as Aß-PET positive or negative, and the ability of TP42/40 to detect Aß-PET positivity was assessed by logistic regression and receiver operating characteristic analyses. Combination of plasma Aß biomarkers and FDG-PET was further assessed as an improvement for brain amyloidosis detection and diagnosis classification. RESULTS: Eighteen (30.5%) subjects were Aß-PET positive. TP42/40 ratio alone identified Aß-PET status with an area under the curve (AUC) of 0.881 (95% confidence interval [CI] = 0.779-0.982). Discriminating performance of TP42/40 to detect Aß-PET-positive subjects yielded sensitivity and specificity values at Youden's cutoff of 77.8% and 87.5%, respectively, with a positive predictive value of 0.732 and negative predictive value of 0.900. All these parameters improved after adjusting the model for significant covariates. Applying TP42/40 as the first screening tool in a sequential diagnostic work-up would reduce the number of Aß-PET scans by 64%. Combination of both FDG-PET scores and plasma Aß biomarkers was found to be the most accurate Aß-PET predictor, with an AUC of 0.965 (95% CI = 0.913-0.100). CONCLUSIONS: Plasma TP42/40 ratio showed a relevant and significant potential as a screening tool to identify brain Aß positivity in preclinical and prodromal stages of Alzheimer's disease.
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- 2019
26. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease
- Author
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Sims, R., van der Lee, S.J., Naj, A.C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B.W., Boland, A., Raybould, R., Bis, J.C., Martin, E.R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A.B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R.R., Olaso, R., Hoffmann, P., Grove, M.L., Vardarajan, B.N., Hiltunen, M., Nöthen, M.M., White, C.C., Hamilton-Nelson, K.L., Epelbaum, J., Maier, W., Choi, S.H., Beecham, G.W., Dulary, C., Herms, S., Smith, A.V., Funk, C.C., Derbois, Forstner, A.J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C.L., Valladares, O., Squassina, A., Thomas, R., Brody, J.A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F.J., Zhao, Y., Garcia, F.S., Denning, N., Fornage, M., Malamon, J., Naranjo, M.C.D., Majounie, E., Mosley, T.H., Dombroski, B., Wallon, D., Lupton, M.K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L.B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J.D., Solfrizzi, V., Proitsi, P., Adams, H.H., Allen, M., Seripa, D., Pastor, P., Cupples, L.A., Price, N.D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A.S., Giedraitis, V., Hampel, H., Garcia, M.E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P.K., Pasquier, F., Boccardi, V., Henández, I., Barber, R.C., Scherer, M., Tarraga, L., Adams, P.M., Leber, M., Chen, Y., Albert, M.S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R.S., Spalletta, G., Longstreth, W.T., Jr., Fairchild, T.J., Bossù, P., Lopez, O.L., Frosch, M.P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R.M., Jessen, F., Li, S., Kamboh, M.I., Morris, J., Sotolongo-Grau, O., Katz, M.J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M.D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J.T., Lord, J., Turton, J., Hartmann, A.M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M.D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I.S., Brookes, K., Cupidi, C., Maletta, R.G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N.C., Hardy, J., Albin, R.L., Apostolova, L.G., Arnold, S.E., Asthana, S., Atwood, C.S., Baldwin, C.T., Barnes, L.L., Barral, S., Beach, T.G., Becker, J.T., Bigio, E.H., Bird, T.D., Boeve, B.F., Bowen, J.D., Boxer, A., Burke, J.R., Burns, J.M., Buxbaum, J.D., Cairns, N.J., Cao, C., Carlson, C.S., Carlsson, C.M., Carney, R.M., Carrasquillo, M.M., Carroll, S.L., Diaz, C.C., Chui, H.C., Clark, D.G., Cribbs, D.H., Crocco, E.A., DeCarli, C., Dick, M., Duara, R., Evans, D.A., Faber, K.M., Fallon, K.B., Fardo, D.W., Farlow, M.R., Ferris, S., Foroud, T.M., Galasko, D.R., Gearing, M., Geschwind, D.H., Gilbert, J.R., Graff-Radford, N.R., Green, R.C., Growdon, J.H., Hamilton, R.L., Harrell, L.E., Honig, L.S., Huentelman, M.J., Hulette, C.M., Hyman, B.T., Jarvik, G.P., Abner, E., Jin, L.W., Jun, G., Karydas, A., Kaye, J.A., Kim, R., Kowall, N.W., Kramer, J.H., LaFerla, F.M., Lah, J.J., Leverenz, J.B., Levey, A.I., Li, G., Lieberman, A.P., Lunetta, K.L., Lyketsos, C.G., Marson, D.C., Martiniuk, F., Mash, D.C., Masliah, E., McCormick, W.C., McCurry, S.M., McDavid, A.N., McKee, A.C., Mesulam, M., Miller, B.L., Miller, C.A., Miller, J.W., Morris, J.C., Murrell, J.R., Myers, A.J., O'Bryant, S., Olichney, J.M., Pankratz, V.S., Parisi, J.E., Paulson, H.L., Perry, W., Peskind, E., Pierce, A., Poon, W.W., Potter, H., Quinn, J.F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J.M., Roberson, E.D., Rogaeva, E., Rosen, H.J., Rosenberg, R.N., Sager, M.A., Saykin, A.J., Schneider, J.A., Schneider, L.S., Seeley, W.W., Smith, A.G., Sonnen, J.A., Spina, S., Stern, R.A., Swerdlow, R.H., Tanzi, R.E., Thornton-Wells, T.A., Trojanowski, J.Q., Troncoso, J.C., Van Deerlin, V.M., Van Eldik, L.J., Vinters, H.V., Vonsattel, J.P., Weintraub, S., Welsh-Bohmer, K.A., Wilhelmsen, K.C., Williamson, J., Wingo, T.S., Woltjer, R.L., Wright, C.B., Yu, C.E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P.P., Fernadez, C.M., Benito, Y.A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A.M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J.J., Keene, C.D., Tschanz, J., Fitzpatrick, A.L., Kukull, W.A., Norton, M., Aspelund, T., Larson, E.B., Munger, R., Rotter, J.I., Lipton, R.B., Bullido, M.J., Hofman, A., Montine, T.J., Coto, E., Boerwinkle, E., Petersen, R.C., Alvarez, V., Rivadeneira, F., Reiman, E.M., Gallo, M., O'Donnell, C.J., Reisch, J.S., Bruni, A.C., Royall, D.R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D.W., Mancuso, M., Bonuccelli, U., Winslow, A.R., Daniele, A., Wu, C.K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D.C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C.E., Collinge, J., Mann, D., Tsolaki, M., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M.C., Owen, M.J., Behrens, T.W., Mead, S., Goate, A.M., Uitterlinden, A.G., Holmes, C., Cruchaga, C., Ingelsson, M., Bennett, D.A., Powell, J., Golde, T.E., Graff, C., De Jager, P.L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B.M., Passmore, P., Younkin, S.G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D.W., Dartigues, J.F., DeStefano, A.L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J.K., Farrer, L.A., Van Broeckhoven, C., Ikram, M.A., Jones, L., Haines, J.L., Tzourio, C., Launer, L.J., Escott-Price, V., Mayeux, R., Deleuze, J.F., Amin, N., Holmans, P.A., Pericak-Vance, M.A., Amouyel, P., van Duijn, C.M., Ramirez, A., Wang, L.S., Lambert, J.C., Seshadri, S., Williams, J., Schellenberg, G.D., Peloso, Gina M., van der Lee, Sven J., Destefano, Anita L., and Seshardi, Sudha
- Published
- 2018
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27. Exploring APOE genotype effects on Alzheimer's disease risk and amyloid beta burden in individuals with subjective cognitive decline: The FundacioACE Healthy Brain Initiative (FACEHBI) study baseline results
- Author
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Moreno-Grau S, Rodríguez-Gómez O, Sanabria Á, Pérez-Cordón A, Sánchez-Ruiz D, Abdelnour C, Valero S, Hernández I, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Gil S, Santos-Santos MÁ, Alegret M, Espinosa A, Ortega G, Guitart M, Gailhajanet A, de Rojas I, Sotolongo-Grau Ó, Ruiz S, Aguilera N, Papasey J, Martín E, Peleja E, Alzheimer's Disease Neuroimaging Initiative, Lomeña F, Campos F, Vivas A, Marta Gómez Chiari, Tejero MÁ, Giménez J, Serrano-Ríos M, Orellana A, Tárraga L, Ruiz A, Boada M, and FACEHBI study group
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,hemic and lymphatic diseases ,APOE alleles, Alzheimer's disease, Amyloid burden, PET, Subjective cognitive decline ,cardiovascular diseases - Abstract
Subjective cognitive decline (SCD) has been proposed as a potential preclinical stage of Alzheimer's disease (AD). Nevertheless, the genetic and biomarker profiles of SCD individuals remain mostly unexplored.
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- 2018
28. Correction: Genetic risk for schizophrenia and psychosis in Alzheimer disease
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DeMichele-Sweet, M. A. A., primary, Weamer, E. A., additional, Klei, L., additional, Vrana, D. T., additional, Hollingshead, D. J., additional, Seltman, H. J., additional, Sims, R., additional, Foroud, T., additional, Hernandez, I., additional, Moreno-Grau, S., additional, Tárraga, L., additional, Boada, M., additional, Ruiz, A., additional, Williams, J., additional, Mayeux, R., additional, Lopez, O. L., additional, Sibille, E. L., additional, Kamboh, M. I., additional, Devlin, B., additional, and Sweet, R. A., additional
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- 2019
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29. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease
- Author
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Peloso, G.M. (Gina M.), Lee, S.J. (Sven) van der, Sims, R. (Rebecca), van der Lee, S.J. (S. J.), Naj, A.C. (A. C.), Bellenguez, C. (Céline), Badarinarayan, N. (Nandini), Jakobsdottir, M. (Margret), Kunkle, B.W. (B. W.), Boland, A. (A.), Raybould, R. (R.), Bis, J.C. (Joshua), Martin, E.R. (E. R.), Grenier-Boley, B. (Benjamin), Heilmann-Heimbach, S. (S.), Chouraki, V. (V.), Kuzma, A.B. (A. B.), Sleegers, K. (K.), Vronskaya, M., Ruiz, A. (A.), Graham, R.R. (Robert), Olaso, R. (Robert), Hoffmann, P. (Per), Grove, M.L. (Megan), Vardarajan, B.N. (Badri), Hiltunen, M. (Mikko), Nöthen, M.M. (Markus), White, C.C. (Charles), Hamilton-Nelson, K.L. (K. L.), Epelbaum, J. (Jacques), Maier, W. (Wolfgang), Choi, S.H. (S. H.), Beecham, G.W., Dulary, C. (C.), Herms, S. (Stefan), Smith, A.V. (Albert), Funk, C.C. (C. C.), Derbois, (), Forstner, A.J. (Andreas), Ahmad, S. (S.), Li, H. (Huaixing), Bacq, D. (D.), Harold, D. (D.), Satizabal, C.L. (Claudia), Valladares, O. (Otto), Squassini, A. (Alessio), Thomas, R. (R.), Brody, J.A. (Jennifer A.), Qu, L. (Liming), Sanchez-Juan, P. (Pascual), Morgan, T. (Thomas), Wolters, F.J. (Frank), Zhao, Y. (Y.), Garcia, F.S. (F. S.), Denning, N. (Nicola), Fornage, M. (Myriam), Malamon, J. (J.), Naranjo, M.C.D. (M. C.D.), Majounie, E. (Elisa), Mosley, T.H. (Thomas H.), Dombroski, B. (B.), Wallon, D. (David), Lupton, M.K. (Michelle), Dupuis, J. (Josée), Whitehead, P. (P.), Fratiglioni, L. (L.), Medway, C. (Christopher), Jian, X. (X.), Mukherjee, S. (S.), Keller, L. (L.), Brown, K. (Kristelle), Lin, H. (Honghuang), Cantwell, L.B. (Laura B.), Panza, F. (F.), McGuinness, B. (B.), Moreno-Grau, S. (S.), Burgess, J.D. (J. D.), Solfrizzi, V. (Vincenzo), Proitsi, P. (P.), Adams, H.H.H. (Hieab), Allen, M. (M.), Seripa, D. (Davide), Pastor, P. (P.), Cupples, L.A. (L. A.), Price, N.D. (N. D.), Hannequin, D. (Didier), Frank-Garcia, A. (Ana), Levy, D. (D.), Chakrabarty, P. (P.), Caffarra, P. (Paolo), Giegling, I. (Ina), Beiser, A. (Alexa), Giedraitis, V. (Vilmantas), Hampel, H. (Heather), Garcia, M.E. (M.), Wang, X. (X.), Lannfelt, L. (Lars), Mecocci, P. (Patrizia), Eiriksdottir, G. (Gudny), Crane, L.M.A., Pasquier, F. (Florence), Boccardi, V. (V.), Henández, I. (I.), Barber, R.C. (R. C.), Scherer, M. (M.), Tárraga, L. (L.), Adams, P.M. (P. M.), Leber, I. (Isabelle), Chen, Y.D.I. (Yii-Der Ida), Albert, M. (Michael), Riedel-Heller, S. (Steffi), Emilsson, V. (Valur), Beekly, D. (D.), Braae, A. (A.), Schmidt, R. (R.), Blacker, D. (D.), Masullo, C., Schmidt, H. (Helena), Doody, R.S. (R. S.), Spalletta, G. (Gianfranco), Longstreth Jr, W.T., Fairchild, T.J. (T. J.), Bossù, P. (P.), Lopez, O.L. (Oscar), Frosch, M.P. (Matthew), Sacchinelli, E. (E.), Ghetti, B. (Bernardino), Yang, Q. (Qiong Fang), Huebinger, R.M. (R. M.), Jessen, F., Li, S. (S.), Kamboh, M.I. (M. I.), Morris, J. (J.), Sotolongo-Grau, O. (O.), Katz, M.J. (M. J.), Corcoran, C. (C.), Dunstan, M.L., Braddel, A. (A.), Thomas, C. (C.), Meggy, A. (A.), Marshall, R. (R.), Gerrish, A. (Amy), Chapman, J. (Jade), Aguilar, M. (M.), Taylor, S. (S.), Hill, M. (M.), Fairén, M.D. (M. D.), Hodges, A. (A.), Vellas, B. (B.), Soininen, H. (H.), Kloszewska, I. (Iwona), Daniilidou, M. (M.), Uphill, J. (James), Patel, Y. (Y.), Hughes, J.T. (J. T.), Lord, J. (J.), Turton, J.C. (James), Hartmann, A.M. (A. M.), Cecchetti, R. (R.), Fenoglio, C. (Chiara), Serpente, M. (Maria), Arcaro, M. (M.), Caltagirone, C. (C.), Orfei, M.D. (M. D.), Ciaramella, A. (A.), Pichler, I. (Irene), Mayhaus, M. (Manuel), Gu, W. (W.), Lleo, A. (Alberto), Fortea, J. (J.), Blesa, R. (Rafael), Barber, I.S. (I. S.), Brookes, K. (K.), Cupidi, C. (Chiara), Maletta, R. (Raffaele), Carrell, D. (D.), Sorbi, S. (Sandro), Moebus, S. (Susanne), Urbano, M. (M.), Pilotto, A. (Alberto), Kornhuber, J. (Johannes), Bosco, P. (Paolo), Todd, S. (S.), Craig, D. (D.), Johnston, J. (J.), Gill, M. (M.), Lawlor, B.A. (B.), Lynch, A. (Aoibhinn), Fox, N.C. (Nick), Hardy, J. (J.), Albin, R.L. (R. L.), Apostolova, L.G. (L. G.), Arnold, S.E. (Steven), Asthana, S. (S.), Atwood, C.S. (Craig), Baldwin, C. (Clinton), Barnes, L.L. (L. L.), Barral, S. (Sandra), Beach, T.G. (Thomas), Becker, J.T. (James), Bigio, E.H. (Eileen), Bird, T.D. (T. D.), Boeve, B.F. (Bradley), Bowen, J.D. (J. D.), Boxer, A.L. (Adam), Burke, J.R. (J. R.), Burns, J.M. (J. M.), Buxbaum, J.D. (J. D.), Cairns, N.J. (N. J.), Cao, C. (C.), Carlson, C. (Chris), Carlsson, C.M. (C. M.), Carney, R.M. (R. M.), Carrasquillo, M.M. (M. M.), Carroll, S.L. (Steven), Diaz, C.C. (C. C.), Chui, H.C. (H. C.), Clark, D.G. (D. G.), Cribbs, D.H. (D. H.), Crocco, E.A. (E. A.), DeCarli, C. (Charles), Dick, M. (M.), Duara, R. (R.), Evans, D.A. (D. A.), Faber, K.M. (Kelley), Fallon, K.B. (K. B.), Fardo, D.W. (D. W.), Farlow, M.R. (M. R.), Ferris, S. (S.), Foroud, T.M. (T. M.), Galasko, D.R. (D. R.), Gearing, M. (Marla), Geschwind, H., Gilbert, J.R. (John R.), Graff-Radford, N.R. (Neill), Green, R.C. (Robert), Growdon, J.H. (J. H.), Hamilton, R.L. (Ronald L.), Harrell, L.E. (L. E.), Honig, L.S. (L. S.), Huentelman, M.J. (M. J.), Hulette, C. (Christine), Hyman, B.T. (Bradley), Jarvik, G.P. (Gail), Abner, E. (E.), Jin, L.W. (L. W.), Jun, G. (G.), Karydas, A. (A.), Kaye, J.A. (Jeffrey), Kim, R. (R.), Kowall, N.W. (N. W.), Kramer, J.H. (Joel), LaFerla, F.M. (F. M.), Lah, J.J. (J. J.), Leverenz, J.B. (J. B.), Levey, A.I. (Allan), Li, G. (Guo), Lieberman, A.P. (A. P.), Lunetta, K.L. (Kathryn), Lyketsos, C.G. (C. G.), Marson, D.C. (D. C.), Martiniuk, F. (F.), Mash, D.C. (Deborah C.), Masliah, E. (Eliezer), McCormick, W.C. (W. C.), McCurry, S.M. (S. M.), McDavid, A.N. (A. N.), McKee, A.C. (A. C.), Mesulam, M. (Marsel), Miller, B.L. (Bruce Lars), Miller, C.A. (C. A.), Miller, J.W. (J. W.), Morris, H. (Huw), Myers, A.J. (Amanda J.), O'Bryant, S. (S.), Olichney, J.M. (J. M.), Pankratz, V.S. (Shane), Parisi, J.E. (Joseph), Paulson, H.L. (Henry), Perry, W. (W.), Peskind, E. (E.), Pierce, A. (A.), Poon, W.W. (W. W.), Potter, H. (H.), Quinn, J.F. (J. F.), Raj, A. (A.), Raskind, M. (M.), Reisberg, B. (B.), Reitz, C. (C.), Ringman, J.M. (J. M.), Roberson, E.D. (E. D.), Rogaeva, E. (Ekaterina), Rosen, H.J. (H. J.), Rosenberg, R.N. (Roger), Sager, M.A. (M. A.), Saykin, A.J. (Andrew), Schneider, J.A. (Julie), Schneider, L.S. (L. S.), Seeley, W.W. (W. W.), Smith, A.G. (A. G.), Sonnen, J.A. (J. A.), Spina, S. (S.), Stern, R.A. (R. A.), Swerdlow, R.H. (R. H.), Tanzi, R.E. (R. E.), Thornton-Wells, T.A. (Tricia), Trojanowski, J.Q. (J. Q.), Troncoso, J.C. (J. C.), Deerlin, V.M. (Vivianna), Van Eldik, L.J. (L. J.), Vinters, H.V. (Harry), Vonsattel, J.P. (Jean Paul), Weintraub, S. (Sandra), Welsh-Bohmer, K.A. (Kathleen), Wilhelmsen, K.C., Williamson, J. (J.), Wingo, T.S. (T. S.), Woltjer, R.L. (Randall), Wright, C.B. (Clinton B.), Yu, C.E. (C. E.), Yu, L. (L.), Garzia, F. (F.), Golamaully, F. (F.), Septier, G. (G.), Engelborghs, S. (Sebastiaan), Vandenberghe, R. (Rik), Deyn, P.P. (Peter) de, Fernadez, C.M. (C. M.), Benito, Y.A. (Y. A.), Thonberg, H. (Håkan), Forsell, C. (C.), Lilius, L. (Lena), Kinhult-Stählbom, A. (A.), Kilander, L. (L.), Brundin, R. (R.), Concari, L. (L.), Helisalmi, S. (S.), Koivisto, A.M. (A. M.), Haapasalo, A. (Annakaisa), Dermecourt, V. (V.), Fievet, N. (N.), Hanon, O. (Olivier), Dufouil, C. (Carole), Brice, A., Ritchie, K. (Karen), Dubois, B. (B.), Himali, J.J. (Jayandra), Keene, C.D. (C. D.), Tschanz, J. (J.), Fitzpatrick, A.L. (Annette), Kukull, W.A., Norton, M. (M.), Aspelund, T. (Thor), Larson, E.B. (Eric B.), Munger, R. (R.), Rotter, J.I. (Jerome I.), Lipton, R.B. (R. B.), Bullido, M.J. (Maria), Hofman, A. (A.), Montine, T.J. (T. J.), Coto, E. (Eliecer), Boerwinkle, E. (E.), Petersen, R.C. (R. C.), Alvarez, V. (V.), Rivadeneira Ramirez, F. (Fernando), Reiman, E.M. (Eric), Gallo, V. (Valentina), O'Donnell, C.J. (Christopher), Reisch, J.S. (J. S.), Bruni, A.C. (Amalia), Royall, D.R. (D. R.), Kubisch, C. (Christian), Sano, M. (M.), Galimberti, D. (Daniela), St. George-Hyslop, P. (Peter), Scarpini, E. (Elio), Tsuang, D.W. (Debby W.), Mancuso, M. (M.), Bonuccelli, U. (Ubaldo), Winslow, A.R. (A. R.), Daniele, A. (A.), Wu, C.K. (C. K.), Peters, O. (Oscar), Nacmias, B. (Benedetta), Riemenschneider, M. (M.), Heun, R. (Reinhard), Brayne, C. (Carol), Rubinsztein, D.C. (David), Bras, J. (J.), Guerreiro, R. (R.), Al-Chalabi, A. (Ammar), Shaw, C.E. (C. E.), Collinge, J. (J.), Mann, D. (D.), Tsolaki, M. (Magda), Clarimón, J. (J.), Sussams, R. (R.), Lovestone, S. (Simon), O'donovan, M.C. (Michael), Owen, M.J. (Michael), Behrens, T.W. (Timothy), Mead, S. (S.), Goate, A.M. (Alison), Uitterlinden, A.G. (A. G.), Holmes, C. (C.), Cruchaga, C. (Carlos), Ingelsson, M. (Martin), Bennett, D.A. (David), Powell, J. (J.), Golde, T.E. (T. E.), Graff, C. (C.), De Jager, P., Morgan, K. (Kevin), Ertekin-Taner, N. (N.), Combarros, O. (Onofre), Psaty, B.M. (Bruce), Passmore, P. (P.), Younkin, S.G. (S. G.), Berr, C. (Claudine), Gudnason, V. (Vilmundur), Rujescu, D. (D.), Dickson, D. (Dennis), Dartigues, J.-F., DeStefano, A.L. (Anita), Ortega-Cubero, S. (S.), Hakonarson, H. (Hakon), Campion, D. (Dominique), Boada, M. (M.), Kauwe, J.K. (J. K.), Farrer, L.A. (Lindsay), Broeckhoven, C. (Christine) van, Ikram, M.A. (Arfan), Jones, L. (L.), Haines, J.L. (Jonathan), Tzourio, C. (Christophe), Launer, L.J. (Lenore), Escott-Price, V. (V.), Mayeux, R. (R.), Deleuze, J.-F. (Jean-François), Amin, N. (Najaf), Holmans, P.A. (Peter A.), Kunkle, B. (Brian), Amouyel, P. (Philippe), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Wang, L.S. (L. S.), Lambert, J.-C. (J.), Seshadri, S. (Sudha), Williams, J. (J.), Schellenberg, G.D. (Gerard), Destefano, A.L. (Anita L.), Seshardi, S. (Sudha), Peloso, G.M. (Gina M.), Lee, S.J. (Sven) van der, Sims, R. (Rebecca), van der Lee, S.J. (S. J.), Naj, A.C. (A. C.), Bellenguez, C. (Céline), Badarinarayan, N. (Nandini), Jakobsdottir, M. (Margret), Kunkle, B.W. (B. W.), Boland, A. (A.), Raybould, R. (R.), Bis, J.C. (Joshua), Martin, E.R. (E. R.), Grenier-Boley, B. (Benjamin), Heilmann-Heimbach, S. (S.), Chouraki, V. (V.), Kuzma, A.B. (A. B.), Sleegers, K. (K.), Vronskaya, M., Ruiz, A. (A.), Graham, R.R. (Robert), Olaso, R. (Robert), Hoffmann, P. (Per), Grove, M.L. (Megan), Vardarajan, B.N. (Badri), Hiltunen, M. (Mikko), Nöthen, M.M. (Markus), White, C.C. (Charles), Hamilton-Nelson, K.L. (K. L.), Epelbaum, J. (Jacques), Maier, W. (Wolfgang), Choi, S.H. (S. H.), Beecham, G.W., Dulary, C. (C.), Herms, S. (Stefan), Smith, A.V. (Albert), Funk, C.C. (C. C.), Derbois, (), Forstner, A.J. (Andreas), Ahmad, S. (S.), Li, H. (Huaixing), Bacq, D. (D.), Harold, D. (D.), Satizabal, C.L. (Claudia), Valladares, O. (Otto), Squassini, A. (Alessio), Thomas, R. (R.), Brody, J.A. (Jennifer A.), Qu, L. (Liming), Sanchez-Juan, P. (Pascual), Morgan, T. (Thomas), Wolters, F.J. (Frank), Zhao, Y. (Y.), Garcia, F.S. (F. S.), Denning, N. (Nicola), Fornage, M. (Myriam), Malamon, J. (J.), Naranjo, M.C.D. (M. C.D.), Majounie, E. (Elisa), Mosley, T.H. (Thomas H.), Dombroski, B. (B.), Wallon, D. (David), Lupton, M.K. (Michelle), Dupuis, J. (Josée), Whitehead, P. (P.), Fratiglioni, L. (L.), Medway, C. (Christopher), Jian, X. (X.), Mukherjee, S. (S.), Keller, L. (L.), Brown, K. (Kristelle), Lin, H. (Honghuang), Cantwell, L.B. (Laura B.), Panza, F. (F.), McGuinness, B. (B.), Moreno-Grau, S. (S.), Burgess, J.D. (J. D.), Solfrizzi, V. (Vincenzo), Proitsi, P. (P.), Adams, H.H.H. (Hieab), Allen, M. (M.), Seripa, D. (Davide), Pastor, P. (P.), Cupples, L.A. (L. A.), Price, N.D. (N. D.), Hannequin, D. (Didier), Frank-Garcia, A. (Ana), Levy, D. (D.), Chakrabarty, P. (P.), Caffarra, P. (Paolo), Giegling, I. (Ina), Beiser, A. (Alexa), Giedraitis, V. (Vilmantas), Hampel, H. (Heather), Garcia, M.E. (M.), Wang, X. (X.), Lannfelt, L. (Lars), Mecocci, P. (Patrizia), Eiriksdottir, G. (Gudny), Crane, L.M.A., Pasquier, F. (Florence), Boccardi, V. (V.), Henández, I. (I.), Barber, R.C. (R. C.), Scherer, M. (M.), Tárraga, L. (L.), Adams, P.M. (P. M.), Leber, I. (Isabelle), Chen, Y.D.I. (Yii-Der Ida), Albert, M. (Michael), Riedel-Heller, S. (Steffi), Emilsson, V. (Valur), Beekly, D. (D.), Braae, A. (A.), Schmidt, R. (R.), Blacker, D. (D.), Masullo, C., Schmidt, H. (Helena), Doody, R.S. (R. S.), Spalletta, G. (Gianfranco), Longstreth Jr, W.T., Fairchild, T.J. (T. J.), Bossù, P. (P.), Lopez, O.L. (Oscar), Frosch, M.P. (Matthew), Sacchinelli, E. (E.), Ghetti, B. (Bernardino), Yang, Q. (Qiong Fang), Huebinger, R.M. (R. M.), Jessen, F., Li, S. (S.), Kamboh, M.I. (M. I.), Morris, J. (J.), Sotolongo-Grau, O. (O.), Katz, M.J. (M. J.), Corcoran, C. (C.), Dunstan, M.L., Braddel, A. (A.), Thomas, C. (C.), Meggy, A. (A.), Marshall, R. (R.), Gerrish, A. (Amy), Chapman, J. (Jade), Aguilar, M. (M.), Taylor, S. (S.), Hill, M. (M.), Fairén, M.D. (M. D.), Hodges, A. (A.), Vellas, B. (B.), Soininen, H. (H.), Kloszewska, I. (Iwona), Daniilidou, M. (M.), Uphill, J. (James), Patel, Y. (Y.), Hughes, J.T. (J. T.), Lord, J. (J.), Turton, J.C. (James), Hartmann, A.M. (A. M.), Cecchetti, R. (R.), Fenoglio, C. (Chiara), Serpente, M. (Maria), Arcaro, M. (M.), Caltagirone, C. (C.), Orfei, M.D. (M. D.), Ciaramella, A. (A.), Pichler, I. (Irene), Mayhaus, M. (Manuel), Gu, W. (W.), Lleo, A. (Alberto), Fortea, J. (J.), Blesa, R. (Rafael), Barber, I.S. (I. S.), Brookes, K. (K.), Cupidi, C. (Chiara), Maletta, R. (Raffaele), Carrell, D. (D.), Sorbi, S. (Sandro), Moebus, S. (Susanne), Urbano, M. (M.), Pilotto, A. (Alberto), Kornhuber, J. (Johannes), Bosco, P. (Paolo), Todd, S. (S.), Craig, D. (D.), Johnston, J. (J.), Gill, M. (M.), Lawlor, B.A. (B.), Lynch, A. (Aoibhinn), Fox, N.C. (Nick), Hardy, J. (J.), Albin, R.L. (R. L.), Apostolova, L.G. (L. G.), Arnold, S.E. (Steven), Asthana, S. (S.), Atwood, C.S. (Craig), Baldwin, C. (Clinton), Barnes, L.L. (L. L.), Barral, S. (Sandra), Beach, T.G. (Thomas), Becker, J.T. (James), Bigio, E.H. (Eileen), Bird, T.D. (T. D.), Boeve, B.F. (Bradley), Bowen, J.D. (J. D.), Boxer, A.L. (Adam), Burke, J.R. (J. R.), Burns, J.M. (J. M.), Buxbaum, J.D. (J. D.), Cairns, N.J. (N. J.), Cao, C. (C.), Carlson, C. (Chris), Carlsson, C.M. (C. M.), Carney, R.M. (R. M.), Carrasquillo, M.M. (M. M.), Carroll, S.L. (Steven), Diaz, C.C. (C. C.), Chui, H.C. (H. C.), Clark, D.G. (D. G.), Cribbs, D.H. (D. H.), Crocco, E.A. (E. A.), DeCarli, C. (Charles), Dick, M. (M.), Duara, R. (R.), Evans, D.A. (D. A.), Faber, K.M. (Kelley), Fallon, K.B. (K. B.), Fardo, D.W. (D. W.), Farlow, M.R. (M. R.), Ferris, S. (S.), Foroud, T.M. (T. M.), Galasko, D.R. (D. R.), Gearing, M. (Marla), Geschwind, H., Gilbert, J.R. (John R.), Graff-Radford, N.R. (Neill), Green, R.C. (Robert), Growdon, J.H. (J. H.), Hamilton, R.L. (Ronald L.), Harrell, L.E. (L. E.), Honig, L.S. (L. S.), Huentelman, M.J. (M. J.), Hulette, C. (Christine), Hyman, B.T. (Bradley), Jarvik, G.P. (Gail), Abner, E. (E.), Jin, L.W. (L. W.), Jun, G. (G.), Karydas, A. (A.), Kaye, J.A. (Jeffrey), Kim, R. (R.), Kowall, N.W. (N. W.), Kramer, J.H. (Joel), LaFerla, F.M. (F. M.), Lah, J.J. (J. J.), Leverenz, J.B. (J. B.), Levey, A.I. (Allan), Li, G. (Guo), Lieberman, A.P. (A. P.), Lunetta, K.L. (Kathryn), Lyketsos, C.G. (C. G.), Marson, D.C. (D. C.), Martiniuk, F. (F.), Mash, D.C. (Deborah C.), Masliah, E. (Eliezer), McCormick, W.C. (W. C.), McCurry, S.M. (S. M.), McDavid, A.N. (A. N.), McKee, A.C. (A. C.), Mesulam, M. (Marsel), Miller, B.L. (Bruce Lars), Miller, C.A. (C. A.), Miller, J.W. (J. W.), Morris, H. (Huw), Myers, A.J. (Amanda J.), O'Bryant, S. (S.), Olichney, J.M. (J. M.), Pankratz, V.S. (Shane), Parisi, J.E. (Joseph), Paulson, H.L. (Henry), Perry, W. (W.), Peskind, E. (E.), Pierce, A. (A.), Poon, W.W. (W. W.), Potter, H. (H.), Quinn, J.F. (J. F.), Raj, A. (A.), Raskind, M. (M.), Reisberg, B. (B.), Reitz, C. (C.), Ringman, J.M. (J. M.), Roberson, E.D. (E. D.), Rogaeva, E. (Ekaterina), Rosen, H.J. (H. J.), Rosenberg, R.N. (Roger), Sager, M.A. (M. A.), Saykin, A.J. (Andrew), Schneider, J.A. (Julie), Schneider, L.S. (L. S.), Seeley, W.W. (W. W.), Smith, A.G. (A. G.), Sonnen, J.A. (J. A.), Spina, S. (S.), Stern, R.A. (R. A.), Swerdlow, R.H. (R. H.), Tanzi, R.E. (R. E.), Thornton-Wells, T.A. (Tricia), Trojanowski, J.Q. (J. Q.), Troncoso, J.C. (J. C.), Deerlin, V.M. (Vivianna), Van Eldik, L.J. (L. J.), Vinters, H.V. (Harry), Vonsattel, J.P. (Jean Paul), Weintraub, S. (Sandra), Welsh-Bohmer, K.A. (Kathleen), Wilhelmsen, K.C., Williamson, J. (J.), Wingo, T.S. (T. S.), Woltjer, R.L. (Randall), Wright, C.B. (Clinton B.), Yu, C.E. (C. E.), Yu, L. (L.), Garzia, F. (F.), Golamaully, F. (F.), Septier, G. (G.), Engelborghs, S. (Sebastiaan), Vandenberghe, R. (Rik), Deyn, P.P. (Peter) de, Fernadez, C.M. (C. M.), Benito, Y.A. (Y. A.), Thonberg, H. (Håkan), Forsell, C. (C.), Lilius, L. (Lena), Kinhult-Stählbom, A. (A.), Kilander, L. (L.), Brundin, R. (R.), Concari, L. (L.), Helisalmi, S. (S.), Koivisto, A.M. (A. M.), Haapasalo, A. (Annakaisa), Dermecourt, V. (V.), Fievet, N. (N.), Hanon, O. (Olivier), Dufouil, C. (Carole), Brice, A., Ritchie, K. (Karen), Dubois, B. (B.), Himali, J.J. (Jayandra), Keene, C.D. (C. D.), Tschanz, J. (J.), Fitzpatrick, A.L. (Annette), Kukull, W.A., Norton, M. (M.), Aspelund, T. (Thor), Larson, E.B. (Eric B.), Munger, R. (R.), Rotter, J.I. (Jerome I.), Lipton, R.B. (R. B.), Bullido, M.J. (Maria), Hofman, A. (A.), Montine, T.J. (T. J.), Coto, E. (Eliecer), Boerwinkle, E. (E.), Petersen, R.C. (R. C.), Alvarez, V. (V.), Rivadeneira Ramirez, F. (Fernando), Reiman, E.M. (Eric), Gallo, V. (Valentina), O'Donnell, C.J. (Christopher), Reisch, J.S. (J. S.), Bruni, A.C. (Amalia), Royall, D.R. (D. R.), Kubisch, C. (Christian), Sano, M. (M.), Galimberti, D. (Daniela), St. George-Hyslop, P. (Peter), Scarpini, E. (Elio), Tsuang, D.W. (Debby W.), Mancuso, M. (M.), Bonuccelli, U. (Ubaldo), Winslow, A.R. (A. R.), Daniele, A. (A.), Wu, C.K. (C. K.), Peters, O. (Oscar), Nacmias, B. (Benedetta), Riemenschneider, M. (M.), Heun, R. (Reinhard), Brayne, C. (Carol), Rubinsztein, D.C. (David), Bras, J. (J.), Guerreiro, R. (R.), Al-Chalabi, A. (Ammar), Shaw, C.E. (C. E.), Collinge, J. (J.), Mann, D. (D.), Tsolaki, M. (Magda), Clarimón, J. (J.), Sussams, R. (R.), Lovestone, S. (Simon), O'donovan, M.C. (Michael), Owen, M.J. (Michael), Behrens, T.W. (Timothy), Mead, S. (S.), Goate, A.M. (Alison), Uitterlinden, A.G. (A. G.), Holmes, C. (C.), Cruchaga, C. (Carlos), Ingelsson, M. (Martin), Bennett, D.A. (David), Powell, J. (J.), Golde, T.E. (T. E.), Graff, C. (C.), De Jager, P., Morgan, K. (Kevin), Ertekin-Taner, N. (N.), Combarros, O. (Onofre), Psaty, B.M. (Bruce), Passmore, P. (P.), Younkin, S.G. (S. G.), Berr, C. (Claudine), Gudnason, V. (Vilmundur), Rujescu, D. (D.), Dickson, D. (Dennis), Dartigues, J.-F., DeStefano, A.L. (Anita), Ortega-Cubero, S. (S.), Hakonarson, H. (Hakon), Campion, D. (Dominique), Boada, M. (M.), Kauwe, J.K. (J. K.), Farrer, L.A. (Lindsay), Broeckhoven, C. (Christine) van, Ikram, M.A. (Arfan), Jones, L. (L.), Haines, J.L. (Jonathan), Tzourio, C. (Christophe), Launer, L.J. (Lenore), Escott-Price, V. (V.), Mayeux, R. (R.), Deleuze, J.-F. (Jean-François), Amin, N. (Najaf), Holmans, P.A. (Peter A.), Kunkle, B. (Brian), Amouyel, P. (Philippe), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Wang, L.S. (L. S.), Lambert, J.-C. (J.), Seshadri, S. (Sudha), Williams, J. (J.), Schellenberg, G.D. (Gerard), Destefano, A.L. (Anita L.), and Seshardi, S. (Sudha)
- Abstract
Introduction: There is conflicting evidence whether high-density lipoprotein cholesterol (HDL-C) is a risk factor for Alzheimer's disease (AD) and dementia. Genetic variation in the cholesteryl ester transfer protein (CETP) locus is associated with altered HDL-C. We aimed to assess AD risk by genetically predicted HDL-C. Methods: Ten single nucleotide polymorphisms within the CETP locus predicting HDL-C were applied to the International Genomics of Alzheimer's Project (IGAP) exome chip stage 1 results in up 16,097 late onset AD cases and 18,077 cognitively normal elderly controls. We performed instrumental variables analysis using inverse variance weighting, weighted median, and MR-Egger. Results: Based on 10 single nucleotide polymorphisms distinctly predicting HDL-C in the CETP locus, we found that HDL-C was not associated with risk of AD (P >.7). Discussion: Our study does not support the role of HDL-C on risk of AD through HDL-C altered b
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- 2018
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30. PLASMA A?42/40 RATIO DETECTS EARLY STAGES OF ALZHEIMER’S DISEASE AND CORRELATES WITH CSF AND NEUROIMAGING BIOMARKERS IN THE AB255 STUDY
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Pérez-Grijalba, V., primary, Romero, J., additional, Pesini, P., additional, Sarasa, L., additional, Monleón, I., additional, San-José, I., additional, Arbizu, J., additional, Martínez-Lage, P., additional, Munuera, J., additional, Ruiz, A., additional, Tárraga, L., additional, Boada, M., additional, and Sarasa, M., additional
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- 2018
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31. Genetic risk for schizophrenia and psychosis in Alzheimer disease
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DeMichele-Sweet, M A A, primary, Weamer, E A, additional, Klei, L, additional, Vrana, D T, additional, Hollingshead, D J, additional, Seltman, H J, additional, Sims, R, additional, Foroud, T, additional, Hernandez, I, additional, Moreno-Grau, S, additional, Tárraga, L, additional, Boada, M, additional, Ruiz, A, additional, Williams, J, additional, Mayeux, R, additional, Lopez, O L, additional, Sibille, E L, additional, Kamboh, M I, additional, Devlin, B, additional, and Sweet, R A, additional
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- 2017
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32. Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene
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Ruiz, A., Heilmann, S., Harold, D., Gerrish, A., Sims, R., Sotolongo-Grau, O., Espinosa, A., Alegret, M., Arrieta, J. L., Lacour, A., Leber, M., Becker, J., Becker, T., Lafuente, A., Ruiz, S., Vargas, L., Rodríguez, O., Ortega, G., Dominguez, M-A, IGAP, Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Hernández, I., Farrer, L. A., Schellenberg, G. D., Chouraki, V., Launer, L. J., van Duijn, C., Seshadri, S., Antúnez, C., Breteler, Monique, Serrano-Ríos, M., Jessen, F., Wagner, H., Tárraga, L., Nöthen, M. M., Maier, W., Boada, M., Ramírez, A., Thelen, M., Mauleón, A., Rosende-Roca, M., Bellenguez, C., Bis, J. C., Breteler, M. M., and Epidemiology
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SNP ,thyroid receptor ,Genomics ,Locus (genetics) ,Single-nucleotide polymorphism ,Genome-wide association study ,genetics [Alzheimer Disease] ,TRIP4 protein, human ,genetics [Genetic Loci] ,Biology ,Polymorphism, Single Nucleotide ,molecular epidemiology ,Cellular and Molecular Neuroscience ,Alzheimer Disease ,dementia risk ,medicine ,GWAS ,Humans ,Genetic Predisposition to Disease ,ddc:610 ,Biological Psychiatry ,Genetics ,Odds ratio ,DNA ,genetics [Transcription Factors] ,medicine.disease ,R1 ,Psychiatry and Mental health ,Genetic Loci ,Spain ,Multiple comparisons problem ,genetics [Polymorphism, Single Nucleotide] ,Original Article ,Alzheimer's disease ,Follow-Up Studies ,Genome-Wide Association Study ,Transcription Factors - Abstract
To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundacio ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located in the genes INPP5D, MEF2C, ZCWPW1 and FERMT2, respectively. Of these, ZCWPW1 was the only SNP to withstand correction for multiple testing (P = 0.000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio = 1.31; confidence interval 95% (1.19-1.44); P = 9.74 x 10(-9)).
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- 2014
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33. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia
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Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodríguez-Rodríguez E, López de Munain A, de Pancorbo MM, Pérez-Tur J, Alvarez V, Antonell A, López-Arrieta J, Hernández I, Tárraga L, Boada M, Lleó A, Blesa R, Frank-García A, Sastre I, Razquin C, Ortega-Cubero S, Lorenzo E, Sánchez-Juan P, Combarros O, Moreno F, Gorostidi A, Elcoroaristizabal X, Baquero M, Coto E, Sánchez-Valle R, Clarimón J, and dementia genetic Spanish consortium (DEGESCO)
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mental disorders ,Alzheimer's disease, Frontotemporal dementia, Genetic association, Rare variant, TREM2, p.R47H - Abstract
A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3172 AD and 682 FTD patients and 2169 healthy controls from Spain. We found that 0.6% of AD patients carried this variant compared to 0.1% of controls (odds ratio [OR] = 4.12, 95% confidence interval [CI] = 1.21-14.00, p = 0.014). A meta-analysis comprising 32,598 subjects from 4 previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR = 4.11, 95% CI = 2.99-5.68, p = 5.27×10(-18)). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk, and suggest that this rare genetic variant is not related to FTD.
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- 2014
34. Genome-wide significant risk factors for Alzheimer’s disease: role in progression to dementia due to Alzheimer's disease among subjects with mild cognitive impairment
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Lacour, A, primary, Espinosa, A, additional, Louwersheimer, E, additional, Heilmann, S, additional, Hernández, I, additional, Wolfsgruber, S, additional, Fernández, V, additional, Wagner, H, additional, Rosende-Roca, M, additional, Mauleón, A, additional, Moreno-Grau, S, additional, Vargas, L, additional, Pijnenburg, Y A L, additional, Koene, T, additional, Rodríguez-Gómez, O, additional, Ortega, G, additional, Ruiz, S, additional, Holstege, H, additional, Sotolongo-Grau, O, additional, Kornhuber, J, additional, Peters, O, additional, Frölich, L, additional, Hüll, M, additional, Rüther, E, additional, Wiltfang, J, additional, Scherer, M, additional, Riedel-Heller, S, additional, Alegret, M, additional, Nöthen, M M, additional, Scheltens, P, additional, Wagner, M, additional, Tárraga, L, additional, Jessen, F, additional, Boada, M, additional, Maier, W, additional, van der Flier, W M, additional, Becker, T, additional, Ramirez, A, additional, and Ruiz, A, additional
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- 2016
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35. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk
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Boada, M. (Mercè), Antúnez, C. (C.), Ramírez-Lorca, R. (R.), DeStefano, A.L. (Anita), González-Pérez, A. (A.), Gayán, J. (J.), López-Arrieta, J. (J.), Ikram, M.A. (Arfan), Hernández, I. (Isabel), Marín, J. (J.), Galán, J.J. (J.), Bis, J.C. (Joshua), Mauleón, A. (A.), Rosende-Roca, M. (M.), Moreno-Rey, C. (C.), Gudnasson, V. (V.), Morón, F.J. (F.), Velasco, J. (J.), Carrasco, B. (Begoña), Alegret, M. (M.), Espinosa, L. (Lluis), Vinyes, G. (G.), Lafuente, A. (A.), Vargas, L. (L.), Fitzpatrick, A.L. (Annette), Launer, L.J. (Lenore), Sáez, M.E. (M.), Becker, J.T. (James), Lopez, O.L. (Oscar), Serrano-Ríos, M. (Manuel), Tárraga, L. (L.), Duijn, C.M. (Cornelia) van, Real, L.M. (L.), Seshadri, S. (Sudha), Ruiz, A. (A.), E. Vazquez, Boada, M. (Mercè), Antúnez, C. (C.), Ramírez-Lorca, R. (R.), DeStefano, A.L. (Anita), González-Pérez, A. (A.), Gayán, J. (J.), López-Arrieta, J. (J.), Ikram, M.A. (Arfan), Hernández, I. (Isabel), Marín, J. (J.), Galán, J.J. (J.), Bis, J.C. (Joshua), Mauleón, A. (A.), Rosende-Roca, M. (M.), Moreno-Rey, C. (C.), Gudnasson, V. (V.), Morón, F.J. (F.), Velasco, J. (J.), Carrasco, B. (Begoña), Alegret, M. (M.), Espinosa, L. (Lluis), Vinyes, G. (G.), Lafuente, A. (A.), Vargas, L. (L.), Fitzpatrick, A.L. (Annette), Launer, L.J. (Lenore), Sáez, M.E. (M.), Becker, J.T. (James), Lopez, O.L. (Oscar), Serrano-Ríos, M. (Manuel), Tárraga, L. (L.), Duijn, C.M. (Cornelia) van, Real, L.M. (L.), Seshadri, S. (Sudha), Ruiz, A. (A.), and E. Vazquez
- Abstract
To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P<5 × 10-6 were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P=2.6 × 10 -7 in discovery and OR=1.43, P=0.004 in Fundació ACE data set; combined OR=1.53, P=4.7 × 10 -9). This ATP5H/KCTD2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation.
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- 2014
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36. Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene
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Ruiz, A. (A.), Heilmann, S. (Sarah), Becker, T. (Tim), Hernández, I. (Isabel), Wagner, H. (Hermann), Thelen, K.M. (Karin ), Mauleón, A. (A.), Rosende-Roca, M. (M.), Bellenguez, C. (Céline), Bis, J.C. (Joshua), Harold, D. (Denise), Gerrish, A. (Amy), Sims, R. (Rebecca), Sotolongo-Grau, O. (O.), Espinosa, L. (Lluis), Alegret, M. (M.), Arrieta, J.L. (J.), Lacour, A. (A.), Leber, I. (Isabelle), Becker, J. (Jessica), Lafuente, A. (A.), Ruiz, S. (S.), Vargas, L. (L.), Rodríguez, P.M., Ortega, G. (G.), Dominguez, M.A., Mayeux, R. (Richard), Haines, J.L. (Jonathan), Pericak-Vance, M.A. (Margaret), Farrer, L.A. (Lindsay), Schellenberg, G.D. (Gerard), Chouraki, V. (Vincent), Launer, L.J. (Lenore), Duijn, C.M. (Cornelia) van, Seshadri, S. (Sudha), Antúnez, C. (C.), Breteler, M.M.B. (Monique), Serrano-Ríos, M. (Manuel), Jessen, F., Tárraga, L. (L.), Nöthen, M.M. (Markus), Maier, W. (Wolfgang), Boada, M. (Mercè), Ramírez, M.J. (María), Ruiz, A. (A.), Heilmann, S. (Sarah), Becker, T. (Tim), Hernández, I. (Isabel), Wagner, H. (Hermann), Thelen, K.M. (Karin ), Mauleón, A. (A.), Rosende-Roca, M. (M.), Bellenguez, C. (Céline), Bis, J.C. (Joshua), Harold, D. (Denise), Gerrish, A. (Amy), Sims, R. (Rebecca), Sotolongo-Grau, O. (O.), Espinosa, L. (Lluis), Alegret, M. (M.), Arrieta, J.L. (J.), Lacour, A. (A.), Leber, I. (Isabelle), Becker, J. (Jessica), Lafuente, A. (A.), Ruiz, S. (S.), Vargas, L. (L.), Rodríguez, P.M., Ortega, G. (G.), Dominguez, M.A., Mayeux, R. (Richard), Haines, J.L. (Jonathan), Pericak-Vance, M.A. (Margaret), Farrer, L.A. (Lindsay), Schellenberg, G.D. (Gerard), Chouraki, V. (Vincent), Launer, L.J. (Lenore), Duijn, C.M. (Cornelia) van, Seshadri, S. (Sudha), Antúnez, C. (C.), Breteler, M.M.B. (Monique), Serrano-Ríos, M. (Manuel), Jessen, F., Tárraga, L. (L.), Nöthen, M.M. (Markus), Maier, W. (Wolfgang), Boada, M. (Mercè), and Ramírez, M.J. (María)
- Abstract
To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located in the genes INPP5D, MEF2C, ZCWPW1 and FERMT2, respectively. Of these, ZCWPW1 was the only SNP to withstand correction for multiple testing (P=0.000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio=1.31; confidence interval 95% (1.19-1.44); P=9.74 × 10 - 9).
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- 2014
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37. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease
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Antúnez, C, Boada, M, González-Pérez, A, Gayán, J, Ramírez-Lorca, R, Marín, J, Hernández, I, Moreno-Rey, C, Morón, FJ, López-Arrieta, J, Mauleón, A, Rosende-Roca, M, Noguera-Perea, F, Legaz-García, A, Vivancos-Moreau, L, Velasco, J, Carrasco, JM, Alegret, M, Antequera-Torres, M, Manzanares, S, Romo, A, Blanca, I, Ruiz, S, Espinosa, A, Castaño, S, García, B, Martínez-Herrada, B, Vinyes, G, Lafuente, A, Becker, JT, Galán, JJ, Serrano-Ríos, M, Ruiz, Vázquez, E, Tárraga, L, Sáez, ME, López, OL, Real, LM, Ruiz, A, Antúnez, C, Boada, M, González-Pérez, A, Gayán, J, Ramírez-Lorca, R, Marín, J, Hernández, I, Moreno-Rey, C, Morón, FJ, López-Arrieta, J, Mauleón, A, Rosende-Roca, M, Noguera-Perea, F, Legaz-García, A, Vivancos-Moreau, L, Velasco, J, Carrasco, JM, Alegret, M, Antequera-Torres, M, Manzanares, S, Romo, A, Blanca, I, Ruiz, S, Espinosa, A, Castaño, S, García, B, Martínez-Herrada, B, Vinyes, G, Lafuente, A, Becker, JT, Galán, JJ, Serrano-Ríos, M, Ruiz, Vázquez, E, Tárraga, L, Sáez, ME, López, OL, Real, LM, and Ruiz, A
- Abstract
Background: In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.Methods: We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.Results: Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).Conclusions: Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases. © 2011 Antúnez et al.; licensee BioMed Central Ltd.
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- 2011
38. A two-year follow-up of cognitive deficits and brain perfusion in mild cognitive impairment and mild Alzheimer's disease.
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Alegret M, Cuberas-Borrós G, Vinyes-Junqué G, Espinosa A, Valero S, Hernández I, Roca I, Ruíz A, Rosende-Roca M, Mauleón A, Becker JT, Castell-Conesa J, Tárraga L, Boada M, Alegret, Montserrat, Cuberas-Borrós, Gemma, Vinyes-Junqué, Georgina, Espinosa, Ana, Valero, Sergi, and Hernández, Isabel
- Abstract
The 15-Objects Test (15-OT) provides useful gradation of visuoperceptual impairment from normal aging through Alzheimer's disease (AD) and correlates with temporo-parietal perfusion. The objectives of this study were to analyze progression of 15-OT performance in mild cognitive impairment (MCI) and AD, and its correlates with cognition and single photon emission computerized tomography (SPECT), as well as to examine neuropsychological and SPECT differences between the MCI patients who developed AD and those who did not. From the initial 126 participants (42/group), 38 AD, 39 MCI, and 38 elderly controls (EC) were reassessed (SPECT: 35 AD, 33 MCI, 35 EC) after two years. The progression of cognitive and SPECT scores during this period was compared between groups, and baseline data between converters and non-converters. The 15-OT was the only measure of progression that differed between the three groups; worsening scores on 15-OT were associated with worsening in verbal and visual retention, and decreased perfusion on left postsubicular area. In the MCI patients, cerebral perfusion fell over the two years in medial-posterior cingulate and fronto-temporo-parietal regions; AD showed extensive changes involving almost all cerebral regions. No SPECT changes were detected in controls. At baseline, the MCI patients who developed AD differed from non-converters in verbal recognition memory, but not in SPECT perfusion. In conclusion, SPECT and 15-OT appear to provide a potential measure to differentiate between normal aging, MCI, and AD. Worsening on 15-OT was related to decreased perfusion in postsubicular area; but further longitudinal studies are needed to determine the contribution of 15-OT as a predictor of AD from MCI. [ABSTRACT FROM AUTHOR]
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- 2012
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39. The MTHFD1L Gene rs11754661 Marker is Not Associated with Alzheimer's Disease in a Sample of the Spanish Population.
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Ramírez-Lorca R, Boada M, Antúnez C, López-Arrieta J, Moreno-Rey C, Hernández I, Marín J, Gayán J, González-Pérez A, Alegret M, Tárraga L, Real LM, and Ruiz A
- Published
- 2011
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40. Learning potential: a new method for assessing cognitive impairment.
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Fernández-Ballesteros R, Zamarrón MD, Tárraga L, Fernández-Ballesteros, Rocío, Zamarrón, María Dolores, and Tàrraga, Lluís
- Abstract
Background: In recent years, it has been claimed that learning potential (also called cognitive plasticity or rehabilitation potential) may be a good predictor of the course of cognitive impairment and the process of dementia. The basic objective of this research program is to test the extent to which the "Battery of Learning Potential for Assessing Dementia" (BEPAD) discriminates healthy people from those diagnosed with Mild Cognitive Impairment (MCI) and with Alzheimer's Disease (AD).Methods: Two hundred people: 100 healthy elders (51 women, 49 men, mean age: 73.13), 50 diagnosed with MCI (30 women, 20 men, mean age: 74.89), and 50 diagnosed with mild AD (36 women, 14 men, mean age: 75.07). Learning potential was assessed through dynamic assessment (or testing-the-limits), using experimental test-training-post-test, a form of evaluation closely related to functional or stress testing in medicine. In several previous studies the BEPAD was developed, with four tasks: visuo-spatial, verbal recall (including delayed verbal recall), executive control and verbal fluency. For all of these tasks, training procedures were developed, converting them into learning potential tests.Results and Conclusions: All "dynamic" or learning scores (post-test) discriminate better healthy, MCI and AD subjects than all static or pre-test scores. A total of 89% of cases are correctly classified by the BEPAD: 95.7% of the healthy subjects, 90.6% of AD patients, and 71.1% of the MCI individuals were correctly classified. [ABSTRACT FROM AUTHOR]- Published
- 2005
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41. Behavioral Pathology in Alzheimer's Disease Rating Scale (BEHAVE-AD): validación española.
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Boada, M., Tárraga, L., Modinos, G., Diego, S., and Reisberg, B.
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ALZHEIMER'S disease ,PRESENILE dementia ,PATHOLOGICAL psychology ,DEMENTIA ,NEUROBEHAVIORAL disorders ,NURSING home patients - Abstract
Copyright of Neurologia (Grupo ARS XXI de Comunicacion, S.A.) is the property of Grupo ARS XXI de Comunicacion, S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2006
42. Neuropsychiatric Inventory-Nursing Home version (NPI-NH): validación española.
- Author
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Boada, M., Tárraga, L., Modinos, G., López, O. L., and Cummings, J. L.
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NURSING care facilities ,NEUROPSYCHIATRY ,MEDICAL screening ,LONG-term care facilities ,HEALTH facilities - Abstract
Copyright of Neurologia (Grupo ARS XXI de Comunicacion, S.A.) is the property of Grupo ARS XXI de Comunicacion, S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2005
43. Efficacy of oaictiral in secondary hyperaphism in hemyasis
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Galleoo, E., Olivas, E., Serano, A., Calvo, M., Andrés, E., Roldán, C.Gómez, and Sánchez-Tárraga, L.
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- 1993
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44. A neuropsychological and global study of cognitive impairment and dementia (CID) in the catalonian geriatric institutionalized subjects
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Boada, Mercè, Tàrraga, L., Monteserín, R., Hernández, I., Juncà, S., and Patricio, F.
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- 1998
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45. Quantitative EEG biomarkers of cognitive performance in drug-resistant temporal lobe epilepsy.
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Lallana S, López-Maza S, Ortega G, Fonseca E, Quintana M, Abraira L, Bellido E, Campos-Fernández D, Santamarina E, Ruiz A, Tárraga L, Boada M, and Toledo M
- Abstract
Background: This study aimed to explore quantitative electroencephalography (qEEG) biomarkers of cognitive performance in drug-resistant temporal lobe epilepsy (TLE) and analyze their relationship with clinical characteristics., Methods: Cross-sectional study including adult patients with drug-resistant TLE and a control group. Resting-state, eyes-closed qEEG samples were analyzed using the fast Fourier transform approach. Power spectral density was calculated for four frequency bands: delta (1-3.9 Hz), theta (4-7.9 Hz), alpha (8-12.9 Hz), and beta (13-18 Hz). Neuropsychological tests were administered to TLE patients., Results: Twenty-nine TLE patients (mean age 42 ± 8.2 years; 44.8 % women) and 23 age- and sex-matched controls were enrolled. Clinically significant cognitive impairment was found in 86.2 % of patients (58.6 % amnestic). Compared to controls, TLE patients showed increased ipsilateral power spectral density for the theta (p = 0.045), alpha (p = 0.023) and beta bands in the anterior region (p = 0.029) and for the delta band in the posterior region (p = 0.03). Alpha/theta ratio (ATR) was lower in the posterior quadrant of the epileptogenic hemisphere (p = 0.013), and higher seizure frequency correlated with a lower ATR in the ipsilateral temporal region (r: -0.425; p = 0.021). Patients with amnestic cognitive impairment exhibited higher power spectral density across most frequency bands (p < 0.005). Impaired verbal memory and executive function were associated with increased power density., Conclusion: Increased power spectral density was evident in all frequency bands in the epileptogenic hemisphere, particularly in those patients with amnestic cognitive impairment. Moreover, higher seizure frequency correlated with a lower ATR in the temporal region. Power spectral analysis can provide useful information in drug-resistant TLE patients., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2025 Elsevier Inc. All rights reserved.)
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- 2025
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46. Exploring sex differences in Alzheimer's disease: a comprehensive analysis of a large patient cohort from a memory unit.
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Rosende-Roca M, García-Gutiérrez F, Cantero-Fortiz Y, Alegret M, Pytel V, Cañabate P, González-Pérez A, de Rojas I, Vargas L, Tartari JP, Espinosa A, Ortega G, Pérez-Cordón A, Moreno M, Preckler S, Seguer S, Gurruchaga MJ, Tárraga L, Ruiz A, Valero S, Boada M, and Marquié M
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- Humans, Male, Female, Aged, Cohort Studies, Aged, 80 and over, Spain epidemiology, Mental Status and Dementia Tests, Disease Progression, Sex Factors, Risk Factors, Alzheimer Disease epidemiology, Alzheimer Disease genetics, Sex Characteristics, Neuropsychological Tests
- Abstract
Background: Alzheimer's disease (AD) stands as the leading cause of dementia worldwide, and projections estimate over 150 million patients by 2050. AD prevalence is notably higher in women, nearly twice that of men, with discernible sex differences in certain risk factors. To enhance our understanding of how sex influences the characteristics of AD patients and its potential impact on the disease trajectory, we conducted a comprehensive analysis of demographic, clinical, cognitive, and genetic data from a sizable and well-characterized cohort of AD dementia patients at a memory clinic in Barcelona, Spain., Methods: The study cohort comprised individuals with probable and possible AD dementia with a Clinical Dementia Rating (CDR) score between 1 and 3 diagnosed at the Memory Unit from Ace Alzheimer Center Barcelona, Spain, between 2008 and 2018. We obtained cognitive baseline data and follow up scores for the Mini-Mental State Examination (MMSE), the CDR scale, and the neuropsychological battery used in our center (NBACE). We employed various statistical techniques to assess the impact of sex on cognitive evolution in these dementia patients, accounting for other sex-related risk factors identified through Machine Learning methods., Results: The study cohort comprised a total of 6108 individuals diagnosed with AD dementia during the study period (28.4% males and 71.6% females). MMSE scores exhibited an average decline of approximately two units per year, unaffected by sex. Similarly, the decline in most neuropsychological functions assessed by NBACE did not exhibit significant differences between males and females. However, we observed that women diagnosed with mild AD dementia progressed more rapidly based on their CDR score (HR = 2.57, 95%CI:2.33-2.84) than men (HR = 2.03, 95%CI: 1.71-2.41) (p-interaction = 0.01)., Conclusions: Our findings do not strongly support the notion that sex significantly modifies the clinical progression of AD dementia based on cognitive data. Further research is essential to validate whether women with mild AD dementia indeed progress more rapidly than men at a similar stage and to delve into the potential underlying reasons for this finding., Competing Interests: Declarations. Ethics approval and consent to participate: This study was performed with dissociated data, therefore Ethics approval and consent were not applicable. Consent for publication: Not applicable. Competing interests: IdR has received funding support from the Instituto de Salud Carlos III (ISCIII) grant FI20/00215. MA has received funding support from the Instituto de Salud Carlos III (ISCIII) Acción Estratégica en Salud, integrated in the Spanish National RCDCI Plan and financed by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER - Una manera de hacer Europa) grant PI22/01403. AR has received funding support from the Instituto de Salud Carlos III (ISCIII) Acción Estratégica en Salud, integrated in the Spanish National RCDCI Plan and financed by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER - Una manera de hacer Europa) grants AC17/00100, PI19/01301, PI22/01403 and PMP22/00022, and from the European Union Joint Programme – Neurodegenerative Disease Research (JPND) Multinational research projects on Personalized Medicine for Neurodegenerative Diseases/Instituto de Salud Carlos III grant AC19/00097. AR is member of scientific advisory board of Landsteiner Genmed and Grifols SA and has stocks of Landsteiner Genmed. MB has received funding support from Instituto de Salud Carlos III (ISCIII) Acción Estratégica en Salud, integrated in the Spanish National RCDCI Plan and financed by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER - Una manera de hacer Europa) grant grant PI17/01474; has received consulting fees from Grifols, Araclon Biotech, Roche, Biogen, Lilly, Merck, Zambon and Novo-Nordisk; and has participated on Advisory Boards from Grifols, Roche, Lilly, Araclon Biotech, Merck, Zambon, Biogen, Novo-Nordisk, Bioiberica, Eisai, Servier, Schwabe Pharma, Lighthouse Pharma. MM has received funding support from Instituto de Salud Carlos III (ISCIII) Acción Estratégica en Salud, integrated in the Spanish National RCDCI Plan and financed by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER - Una manera de hacer Europa) grant PI19/00335; has received travel support to attend scientific meeting from F. Hoffmann-La Roche Ltd, and has participated in the Spanish Scientific Advisory Board of Biomarkers of Araclon Biotech-Grífols.All other authors declare no potential competing interests., (© 2024. The Author(s).)
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- 2025
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47. Head-to-Head Comparison of Aptamer- and Antibody-Based Proteomic Platforms in Human Cerebrospinal Fluid Samples from a Real-World Memory Clinic Cohort.
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Puerta R, Cano A, García-González P, García-Gutiérrez F, Capdevila M, de Rojas I, Olivé C, Blázquez-Folch J, Sotolongo-Grau O, Miguel A, Montrreal L, Martino-Adami P, Khan A, Orellana A, Sung YJ, Frikke-Schmidt R, Marchant N, Lambert JC, Rosende-Roca M, Alegret M, Fernández MV, Marquié M, Valero S, Tárraga L, Cruchaga C, Ramírez A, Boada M, Smets B, Cabrera-Socorro A, and Ruiz A
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- Humans, Male, Female, Aged, Reproducibility of Results, Cohort Studies, Antibodies immunology, Middle Aged, Aged, 80 and over, Aptamers, Nucleotide, Proteomics methods, Alzheimer Disease cerebrospinal fluid, Alzheimer Disease metabolism, Biomarkers cerebrospinal fluid
- Abstract
High-throughput proteomic platforms are crucial to identify novel Alzheimer's disease (AD) biomarkers and pathways. In this study, we evaluated the reproducibility and reliability of aptamer-based (SomaScan
® 7k) and antibody-based (Olink® Explore 3k) proteomic platforms in cerebrospinal fluid (CSF) samples from the Ace Alzheimer Center Barcelona real-world cohort. Intra- and inter-platform reproducibility were evaluated through correlations between two independent SomaScan® assays analyzing the same samples, and between SomaScan® and Olink® results. Association analyses were performed between proteomic measures, CSF biological traits, sample demographics, and AD endophenotypes. Our 12-category metric of reproducibility combining correlation analyses identified 2428 highly reproducible SomaScan CSF measures, with over 600 proteins well reproduced on another proteomic platform. The association analyses among AD clinical phenotypes revealed that the significant associations mainly involved reproducible proteins. The validation of reproducibility in these novel proteomics platforms, measured using this scarce biomaterial, is essential for accurate analysis and proper interpretation of innovative results. This classification metric could enhance confidence in multiplexed proteomic platforms and improve the design of future panels.- Published
- 2024
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48. Amyloid deposition in adults with drug-resistant temporal lobe epilepsy.
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Fonseca E, Lallana S, Ortega G, Cano A, Sarria-Estrada S, Pareto D, Quintana M, Lorenzo-Bosquet C, López-Maza S, Gifreu A, Campos-Fernández D, Abraira L, Santamarina E, Orellana A, Montrreal L, Puerta R, Aguilera N, Ramis M, de Rojas I, Ruiz A, Tárraga L, Rovira À, Marquié M, Boada M, and Toledo M
- Subjects
- Humans, Male, Female, Adult, Middle Aged, Cross-Sectional Studies, Neuropsychological Tests, Aniline Compounds, Benzothiazoles, Epilepsy, Temporal Lobe diagnostic imaging, Epilepsy, Temporal Lobe metabolism, Epilepsy, Temporal Lobe surgery, Epilepsy, Temporal Lobe cerebrospinal fluid, Amyloid beta-Peptides cerebrospinal fluid, Amyloid beta-Peptides metabolism, Positron-Emission Tomography, Drug Resistant Epilepsy diagnostic imaging, Drug Resistant Epilepsy surgery, Drug Resistant Epilepsy metabolism, Drug Resistant Epilepsy cerebrospinal fluid, tau Proteins cerebrospinal fluid, tau Proteins metabolism, Peptide Fragments cerebrospinal fluid
- Abstract
Objective: Pathological amyloid-β (Aβ) accumulation and hyperphosphorylated tau proteins have been described in resected temporal lobe specimens of epilepsy patients. We aimed to determine cerebrospinal fluid (CSF) Aβ1-42 and p181-tau levels and cerebral Aβ deposits on positron emission tomography (Aβ PET) and correlate these findings with cognitive performance in adults with drug-resistant temporal lobe epilepsy (TLE)., Methods: In this cross-sectional study, we enrolled individuals with drug-resistant TLE who were 25-55 years old. Each participant underwent
18 F-flutemetamol PET, determination of CSF Aβ1-42, p181-tau, and total tau, and a comprehensive neuropsychological assessment. We evaluated normalized standard uptake value ratios (SUVRs) for different brain regions on Aβ PET., Results: Thirty patients (mean age = 41.9 ± SD 8.1 years, 57% men) were included. The median disease duration was 9.5 (interquartile range = 4-24) years. Twenty-six patients (87%) had a clinically significant cognitive impairment on neuropsychological evaluation, 18 (69%) of the amnesic type. On Aβ PET, high uptake was observed in both mesial temporal regions (ipsilateral: SUVR z-score = .90, 95% confidence interval [CI] = .60-1.20; contralateral: SUVR z-score = .92, 95% CI = .57-1.27; p < .001), which was higher when compared to SUVR z-scores in all the remaining regions (p < .001) and in the ipsilateral anterior cingulate (SUVR z-score = .27, 95% CI = .04-.49, p = .020). No significant deposition was observed in other regions. Seven patients (23%) had low Aβ1-42 levels, and two (7%) had elevated p181-tau levels in CSF. Higher p181-tau levels correlated with poorer verbal fluency (R = -.427, p = .044)., Significance: Our findings reveal a considerable Aβ deposition in mesial temporal regions and ipsilateral anterior cingulate among adults with drug-resistant TLE. Additionally, abnormal CSF Aβ1-42 levels were observed in a significant proportion of patients, and p181-tau levels were associated with verbal fluency. These results suggest that markers of neuronal damage can be observed in adults with TLE, warranting further investigation., (© 2024 International League Against Epilepsy.)- Published
- 2024
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49. Head-to-head comparison of tau PET tracers [ 18 F]PI-2620 and [ 18 F]RO948 in non-demented individuals with brain amyloid deposition: the TAU-PET FACEHBI cohort.
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Tonietto M, Sotolongo-Grau O, Roé-Vellvé N, Bullich S, Tartari JP, Sanabria Á, García-Sánchez A, Borroni E, Galli C, Pérez-Martínez E, Castell-Conesa J, Roca I, Tárraga L, Ruiz A, Stephens AW, Boada M, Klein G, and Marquié M
- Subjects
- Humans, Male, Female, Aged, Cohort Studies, Alzheimer Disease diagnostic imaging, Alzheimer Disease metabolism, Middle Aged, Fluorine Radioisotopes pharmacokinetics, Radiopharmaceuticals pharmacokinetics, Aniline Compounds, Pyridines, Stilbenes, Positron-Emission Tomography methods, tau Proteins metabolism, Brain diagnostic imaging, Brain metabolism
- Abstract
Background: Second-generation tau tracers for positron emission tomography (PET) show high affinity for paired helical filaments tau deposits characteristic of Alzheimer´s disease and low off-target binding. Differences in their chemical structure though may lead to variations in their regional tau uptake and off-target signal. In this work, we aimed to compare the in-vivo uptake of tau tracers [
18 F]PI-2620 and [18 F]RO948 in the early stages of the AD continuum., Methods: Data from the TAU-PET FACEHBI clinical trial (EUDRA-CT 2021-000473-83) were analyzed. All participants were non-demented and underwent tau imaging with [18 F]PI-2620 and [18 F]RO948 PET within 3 months, amyloid imaging with [18 F]Florbetaben and brain magnetic resonance imaging. Tau PET standardized uptake values ratios (SUVR) were calculated in Braak and typical off-target regions using the inferior cerebellar cortex as a reference region., Results: The cohort consisted of 18 individuals with subjective cognitive decline (n = 13) and mild cognitive impairment (n = 5), with centiloid values ranging from 17 to 159. Both tau tracers showed similar tau pathology distribution but presented a distinct off-target signal pattern on visual read. SUVR measurements for [18 F]PI-2620 and [18 F]RO948 were highly correlated in all Braak regions (R2 range [0.65-0.80]). Regarding off-target signal, [18 F]PI-2620 had higher SUVRs in vascular structures, and [18 F]RO948 had higher SUVRs in the skull/meninges., Conclusions: In a cohort of individuals at early stages of the AD continuum, tau PET tracers [18 F]PI-2620 and [18 F]RO948 showed similar in-vivo uptake in all Braak regions and distinct off-target signal. These preliminary results support the development of standardized quantification scales for tau deposition that are tracer-independent., Trial Registration: AEMPS EudraCT 2021-000473-83. Registered 30 December 2021., Competing Interests: Declarations. Ethics approval and consent to participate: The study was conducted in accordance with the Declaration of Helsinki. The TAU-PET FACEHBI protocol received the approval from the Spanish Drug Agency (AEMPS for its initials in Spanish) and was registered as phase II clinical trial (CT) (EudraCT: 2021-000473-83, approval date December 15th 2021) and by the Ethics Committee of Hospital Universitari de Bellvitge in Hospitalet de Llobregat, Spain. The FACEHBI-2 protocol (which includes study v5) was approved by the Ethics Committee of Hospital Clínic i Provincial in Barcelona, Spain. Informed consent was obtained from all participants involved in the study. Consent for publication: The authors affirm that human research participants provided informed consent for publication of the images in Fig. 2. Competing interests: MB has consulted for Araclon, Avid, Grifols, Lilly, Nutricia, Roche, Eisai and Servier. She received fees from lectures and funds for research from Araclon, Biogen, Grifols, Nutricia, Roche and Servier. She reports grants/research funding from Abbvie, Araclon, Biogen Research Limited, Bioiberica, Grifols, Lilly, S.A, Merck Sharp & Dohme, Kyowa Hakko Kirin, Laboratorios Servier, Nutricia SRL, Oryzon Genomics, Piramal Imaging Limited, Roche Pharma SA, and Schwabe Farma Iberica SLU, all outside the submitted work. She has not received personal compensations from these organizations. AR is member of scientific advisory board of Landsteiner Genmed and Grifols SA. AR has stocks of Landsteiner Genmed. MM has consulted for F. Hoffmann-La Roche Ltd and is a member of the Scientific Advisory Board of Biomarkers of Araclon. MT, EB, CG, GK are full-time employees, and owns stock or stock options, of F. Hoffmann-La Roche Ltd. NRV, SB, EPM, ES are full-time employees of Life Molecular Imaging GmbH. The rest of authors declare that they have no competing interests., (© 2024. The Author(s).)- Published
- 2024
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50. Changes in choroidal thickness quantified by Optical Coherence Tomography across cognitive impairment: data from the NORFACE cohort.
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Castilla-Martí L, García-Sánchez A, Martínez J, Rosende-Roca M, Vargas L, Tartari JP, Casales F, Rodríguez JN, Bein N, Alegret M, Ortega G, Espinosa A, Sanabria Á, Pérez-Cordón A, Muñoz N, García-Gutiérrez F, Blazquez-Folch J, Miguel A, de Rojas I, García-González P, Puerta R, Olivé C, Capdevila M, Muñoz-Morales Á, Bayón-Buján P, Cano A, Fernández V, Valero S, Tárraga L, Ruiz A, Boada M, Castilla-Martí M, and Marquié M
- Subjects
- Humans, Male, Female, Aged, Cohort Studies, Middle Aged, Aged, 80 and over, Alzheimer Disease diagnostic imaging, Alzheimer Disease pathology, Cerebrovascular Disorders diagnostic imaging, Cerebrovascular Disorders pathology, Tomography, Optical Coherence methods, Cognitive Dysfunction diagnostic imaging, Cognitive Dysfunction pathology, Choroid diagnostic imaging, Choroid pathology
- Abstract
Background: Optical coherence tomography (OCT) enables high-resolution imaging of ocular structures in health and disease. Choroid thickness (CT) is a key vascular retinal parameter that can be assessed by OCT and might be relevant in the evaluation of the vascular component of cognitive decline. We aimed to investigate CT changes in a large cohort of individuals cognitive unimpaired (CU), with mild cognitive impairment due to Alzheimer's (MCI-AD), mild cognitive impairment due to cerebrovascular disease (MCI-Va), Alzheimer's disease dementia (ADD), and vascular dementia (VaD)., Methods: Clinical, demographical, ophthalmological and OCT data from the Neuro-ophthalmological Research at Fundació ACE (NORFACE) project were analyzed. CT was assessed in the macula across nine Early Treatment Diabetic Retinopathy Study (ETDRS) quadrants, average thickness, total volume, and subfoveal choroidal thickness. Differences of CT among the five diagnostic groups were assessed in a multivariate regression model, adjusting for demographic and cardiovascular risk factors and OCT image quality. A comparison between manual and automatic CT measurements in a subset of participants was also performed., Results: The study cohort comprised 1,280 participants: 301 CU, 196 MCI-AD, 112 MCI-Va, 578 ADD, and 93 VaD. CT was significantly increased in individuals with cognitive impairment compared to those CU, particularly in the VaD and MCI-Va groups and in the peripheral ETDRS regions. No significant differences were found in inner superior, center and subfoveal choroidal thickness. The interaction of sex and diagnosis had no effect in differentiating CT. Mini-Mental State Examination (MMSE) scores were not correlated to CT. Manual and automated CT measurements showed good reliability., Discussion: Our findings indicated that peripheral choroidal thickening, especially in patients with cerebrovascular disease, may serve as a potential choroidal biomarker for cognitive decline and suggest different pathogenic pathways in AD and VaD. Further research is required to explore CT as a reliable ocular biomarker for cognitive impairment., Competing Interests: Declarations Ethics approval and consent to participate This study and its informed consent were approved by the Ethics Committee of the Hospital Clínic i Provincial de Barcelona in accordance with Spanish biomedical laws (Law 14/2007, of July 3, on biomedical research; Royal Decree 1716/2011, of November 18) and followed the recommendations of the declaration of Helsinki. All participants signed an informed consent form (in the case of individuals with moderate stages of dementia, informed consent was signed by their legal representative or family member). Consent for publication Not applicable. Competing interests MB has consulted for Araclon, Avid, Grifols, Lilly, Nutricia, Roche, Eisai and Servier. She received fees from lectures and funds for research from Araclon, Biogen, Grifols, Nutricia, Roche and Servier. She reports grants/research funding from Abbvie, Araclon, Biogen Research Limited, Bioiberica, Grifols, Lilly, S.A, Merck Sharp & Dohme, Kyowa Hakko Kirin, Laboratorios Servier, Nutricia SRL, Oryzon Genomics, Piramal Imaging Limited, Roche Pharma SA, and Schwabe Farma Iberica SLU, all outside the submitted work. She has not received personal compensations from these organizations. AR is member of scientific advisory board of Landsteiner Genmed and Grifols SA. AR has stocks of Landsteiner Genmed. MM has consulted for F. Hoffmann-La Roche Ltd. The rest of authors declare that they have no competing interests., (© 2024. The Author(s).)
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- 2024
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