Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease
Autor: | Neill R. Graff-Radford, Caroline S. Widdowson, John Hardy, Simon Lovestone, Stefan Schreiber, Ana Frank-García, Amy Gerrish, Kevin Mayo, Alexandra Stretton, Michael John Owen, Minerva M. Carrasquillo, Seth Love, Jade Chapman, Vincent Chouraki, Monique M.B. Breteler, Francesco Panza, Emma R L C Vardy, Ronald C. Petersen, Harald Hampel, S. Nicolhaus, Lenore J. Launer, Michelle K. Lupton, Eckart Rüther, A. David Smith, David C. Rubinsztein, Rebecca Sims, Gill Livingston, Diana Zelenika, Simon Mead, Martin N. Rossor, Hilkka Soininen, Christine Van Broeckhoven, Kristel Sleegers, Thorlakur Jonsson, M. Arfan Ikram, Helen Beaumont, Michael Conlon O'Donovan, Federico Licastro, Sudha Seshadri, Alexander Richards, Nick C. Fox, Markus M. Nöthen, Claudine Berr, T. Feulner, Benedetta Nacmias, Carlos Cruchaga, Peter Passmore, Oscar L. Lopez, Julie Williams, Matthias Riemenschneider, Florence Pasquier, John Gallacher, Didier Hannequin, Sigrid Botne Sando, Jens Wiltfang, Charlene Thomas, Gabriele Siciliano, Maria Barcikowska, Mikko Hiltunen, Carol Brayne, Dobril Ivanov, Anita L. DeStefano, Bernadette McGuinness, Norman Klopp, Gordon K. Wilcock, Aoibhinn Lynch, Wolfgang Maier, Peter Holmans, H.-Erich Wichmann, Giorgio Annoni, Beatrice Arosio, Alison Goate, Sigurbjorn Bjornsson, Karl-Heinz Jöckel, Dan Rujescu, Hugh Gurling, Nigel M. Hooper, Clive Holmes, Andrew McQuillin, Patricia Friedrich, John Powell, Rhian Gwilliam, R. Heun, Jacques Epelbaum, Isabella Heuser, Magda Tsolaki, Dennis W. Dickson, Alberto Pilotto, Stephen Todd, Dominique Campion, Michael Krawczak, Jan O. Aasly, Olivier Hanon, Patrick G. Kehoe, Johannes Kornhuber, Marc Delepine, Peter Paul De Deyn, Britta Schürmann, Brian A. Lawlor, Christophe Tzourio, Richard Abraham, Petra Nowotny, Jean-François Dartigues, Heike Kölsch, Michelangelo Mancuso, Marian L. Hamshere, Zbigniew K. Wszolek, Paola Piccardi, Paolo Bosco, Jean-Charles Lambert, Denise Harold, Frank Jessen, Palmi V. Jonsson, Paola Bossù, Paul Hollingworth, Jon Snaedal, Michael Gill, Onofre Combarros, David M. A. Mann, John C. Morris, Annette L. Fitzpatrick, Christopher Shaw, Alexis Brice, Philippe Amouyel, Elio Scarpini, Lesley Jones, Sebastiaan Engelborghs, Daniela Galimberti, Vincenzo Solfrizzi, V. Shane Pankratz, John Collinge, María J. Bullido, Kristelle Brown, Nicholas Bass, Andrew B. Singleton, Jaspreet Singh Pahwa, Kari Stefansson, Lutz Frölich, Steven G. Younkin, Ignacio Mateo, Annick Alpérovitch, Benjamin Genier-Boley, Ina Giegling, Caterina Riehle, Kimberley Dowzell, Mark Lathrop, Hreinn Stefansson, Sandro Sorbi, Rita Guerreiro, Thomas W. Mühleisen, Karolien Bettens, Michael Hüll, Martin Dichgans, Petroula Proitsi, Panagiotis Deloukas, Valentina Moskvina, Cornelia M. van Duijn, Donald Warden, Victoria Alvarez, Eliecer Coto, Kevin Morgan, Susanne Moebus, Ammar Al-Chalabi, Elisa Porcellini, Stefan Wagenpfeil, Hendrik van den Bussche, John S. K. Kauwe, Stacy Steinberg, David Craig, Nicola Jones, Manuel Mayhaus, Davide Seripa |
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Přispěvatelé: | Neurology, NCA - Neurodegeneration, HOLLINGWORTH P, HAROLD D, SIMS R, GERRISH A, LAMBERT JC, CARRASQUILLO MM, ABRAHAM R, HAMSHERE ML, PAHWA JS, MOSKVINA V, DOWZELL K, JONES N, STRETTON A, THOMAS C, RICHARDS A, IVANOV D, WIDDOWSON C, CHAPMAN J, LOVESTONE S, POWELL J, PROITSI P, LUPTON MK, BRAYNE C, RUBINSZTEIN DC, GILL M, LAWLOR B, LYNCH A, BROWN KS, PASSMORE PA, CRAIG D, MCGUINNESS B, TODD S, HOLMES C, MANN D, SMITH AD, BEAUMONT H, WARDEN D, WILCOCK G, LOVE S, KEHOE PG, HOOPER NM, VARDY ER, HARDY J, MEAD S, FOX NC, ROSSOR M, COLLINGE J, MAIER W, JESSEN F, RÜTHER E, SCHÜRMANN B, HEUN R, KÖLSCH H, VAN DEN BUSSCHE H, HEUSER I, KORNHUBER J, WILTFANG J, DICHGANS M, FRÖLICH L, HAMPEL H, GALLACHER J, HÜLL M, RUJESCU D, GIEGLING I, GOATE AM, KAUWE JS, CRUCHAGA C, NOWOTNY P, MORRIS JC, MAYO K, SLEEGERS K, BETTENS K, ENGELBORGHS S, DE DEYN PP, VAN BROECKHOVEN C, LIVINGSTON G, BASS NJ, GURLING H, MCQUILLIN A, GWILLIAM R, DELOUKAS P, AL-CHALABI A, SHAW CE, TSOLAKI M, SINGLETON AB, GUERREIRO R, MÜHLEISEN TW, NÖTHEN MM, MOEBUS S, JÖCKEL KH, KLOPP N, WICHMANN HE, PANKRATZ VS, SANDO SB, AASLY JO, BARCIKOWSKA M, WSZOLEK ZK, DICKSON DW, GRAFF-RADFORD NR, PETERSEN RC, ALZHEIMER'S DISEASE NEUROIMAGING INITIATIVE, VAN DUIJN CM, BRETELER MM, IKRAM MA, DESTEFANO AL, FITZPATRICK AL, LOPEZ O, LAUNER LJ, SESHADRI S, CHARGE CONSORTIUM, BERR C, CAMPION D, EPELBAUM J, DARTIGUES JF, TZOURIO C, ALPÉROVITCH A, LATHROP M, EADI1 CONSORTIUM, FEULNER TM, FRIEDRICH P, RIEHLE C, KRAWCZAK M, SCHREIBER S, MAYHAUS M, NICOLHAUS S, WAGENPFEIL S, STEINBERG S, STEFANSSON H, STEFANSSON K, SNAEDAL J, BJÖRNSSON S, JONSSON PV, CHOURAKI V, GENIER-BOLEY B, HILTUNEN M, SOININEN H, COMBARROS O, ZELENIKA D, DELEPINE M, BULLIDO MJ, PASQUIER F, MATEO I, FRANK-GARCIA A, PORCELLINI E, HANON O, COTO E, ALVAREZ V, BOSCO P, SICILIANO G, MANCUSO M, PANZA F, SOLFRIZZI V, NACMIAS B, SORBI S, BOSSÙ P, PICCARDI P, AROSIO B, ANNONI G, SERIPA D, PILOTTO A, SCARPINI E, GALIMBERTI D, BRICE A, HANNEQUIN D, LICASTRO F, JONES L, HOLMANS PA, JONSSON T, RIEMENSCHNEIDER M, MORGAN K, YOUNKIN SG, OWEN MJ, O'DONOVAN M, AMOUYEL P, WILLIAMS J, Epidemiology, Radiology & Nuclear Medicine, Clinical sciences, Pathologic Biochemistry and Physiology, Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J, Carrasquillo, M, Abraham, R, Hamshere, M, Pahwa, J, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M, Brayne, C, Rubinsztein, D, Gill, M, Lawlor, B, Lynch, A, Brown, K, Passmore, P, Craig, D, Mcguinness, B, Todd, S, Holmes, C, Mann, D, Smith, A, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P, Hooper, N, Vardy, E, Hardy, J, Mead, S, Fox, N, Rossor, M, Collinge, J, Maier, W, Jessen, F, Rüther, E, Schürmann, B, Heun, R, Kölsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frölich, L, Hampel, H, Gallacher, J, Hüll, M, Rujescu, D, Giegling, I, Goate, A, Kauwe, J, Cruchaga, C, Nowotny, P, Morris, J, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P, Van Broeckhoven, C, Livingston, G, Bass, N, Gurling, H, Mcquillin, A, Gwilliam, R, Deloukas, P, Al Chalabi, A, Shaw, C, Tsolaki, M, Singleton, A, Guerreiro, R, Mühleisen, T, Nöthen, M, Moebus, S, Jöckel, K, Klopp, N, Wichmann, H, Pankratz, V, Sando, S, Aasly, J, Barcikowska, M, Wszolek, Z, Dickson, D, Graff Radford, N, Petersen, R, van Duijn, C, Breteler, M, Ikram, M, Destefano, A, Fitzpatrick, A, Lopez, O, Launer, L, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J, Tzourio, C, Alpérovitch, A, Lathrop, M, Feulner, T, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snædal, J, Björnsson, S, Jonsson, P, Chouraki, V, Genier Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M, Pasquier, F, Mateo, I, Frank Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossù, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S, Owen, M, O'Donovan, M, Amouyel, P, Williams, J |
Rok vydání: | 2011 |
Předmět: |
Male
ABCA7 protein human ATP-Binding Cassette Transporters/genetics Sialic Acid Binding Ig-like Lectin 3 CD33 SORL1 Medizin genetics [Alzheimer Disease] Adaptor Proteins Signal Transducing/genetics Disease PICALM ABCA7 Disease susceptibility 0302 clinical medicine genetics [Adaptor Proteins Signal Transducing] Databases Genetic GWAS GENE-EXPRESSION Medicine(all) Aged 80 and over Genetics 0303 health sciences Alzheimer's disease genetic predisposition Receptor EphA1 ALZHEIMER’S DISEASE Antigens CD/genetics genetics [Receptor EphA1] genetics [Membrane Proteins] Multigene Family Female genetics [Antigens Differentiation Myelomonocytic] APOE Antigens Differentiation Myelomonocytic Single-nucleotide polymorphism Case-control studies Cytoskeletal Proteins/genetics Biology Polymorphism Single Nucleotide Article 03 medical and health sciences CD33 protein human Alzheimer Disease Antigens CD ddc:570 Humans Genetic Predisposition to Disease Membrane Proteins/genetics CLUSTERIN Aged genetics [Cytoskeletal Proteins] Adaptor Proteins Signal Transducing 030304 developmental biology Alzheimer Disease/genetics Antigens Differentiation Myelomonocytic/genetics Genetic Variation Membrane Proteins CD2-associated protein genetics [Antigens CD] Cytoskeletal Proteins MS4A4E protein human Case-Control Studies Susceptibility locus biology.protein ATP-Binding Cassette Transporters Human medicine genetics [ATP-Binding Cassette Transporters] aged 80 and over Receptor EphA1/genetics 030217 neurology & neurosurgery Genome-Wide Association Study |
Zdroj: | Nature genetics 43(5), 429-435 (2011). doi:10.1038/ng.803 Nature Genetics, 43(5), 429-435. Nature Publishing Group Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J-C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruether, E, Schuermann, B, Heun, R, Koelsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Froelich, L, Hampel, H, Gallacher, J, Huell, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muehleisen, T W, Noethen, M M, Moebus, S, Joeckel, K-H, Klopp, N, Wichmann, H-E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J-F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803 Nature genetics Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, Van Den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, De Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W, Graff-Radford, N R, Petersen, R C, Van Duijn, C M, Breteler, M M B, Ikram, M A, DeStefano, A L, Fitzpatrick, A L, Lopez, O, Launer, L J, Seshadri, S, Berr, C, Campion, D, Epelbaum, J, Dartigues, J F, Tzourio, C, Alperovitch, A, Lathrop, M, Feulner, T M, Friedrich, P, Riehle, C, Krawczak, M, Schreiber, S, Mayhaus, M, Nicolhaus, S, Wagenpfeil, S, Steinberg, S, Stefansson, H, Stefansson, K, Snaedal, J, Bjornsson, S, Jonsson, P V, Chouraki, V, Genier-Boley, B, Hiltunen, M, Soininen, H, Combarros, O, Zelenika, D, Delepine, M, Bullido, M J, Pasquier, F, Mateo, I, Frank-Garcia, A, Porcellini, E, Hanon, O, Coto, E, Alvarez, V, Bosco, P, Siciliano, G, Mancuso, M, Panza, F, Solfrizzi, V, Nacmias, B, Sorbi, S, Bossu, P, Piccardi, P, Arosio, B, Annoni, G, Seripa, D, Pilotto, A, Scarpini, E, Galimberti, D, Brice, A, Hannequin, D, Licastro, F, Jones, L, Holmans, P A, Jonsson, T, Riemenschneider, M, Morgan, K, Younkin, S G, Owen, M J, O'Donovan, M, Amouyel, P & Williams, J 2011, ' Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease ', Nature Genetics, vol. 43, no. 5, pp. 429-35 . https://doi.org/10.1038/ng.803 Hollingworth, P, Harold, D, Sims, R, Gerrish, A, Lambert, J C, Carrasquillo, M M, Abraham, R, Hamshere, M L, Pahwa, J S, Moskvina, V, Dowzell, K, Jones, N, Stretton, A, Thomas, C, Richards, A, Ivanov, D, Widdowson, C, Chapman, J, Lovestone, S, Powell, J, Proitsi, P, Lupton, M K, Brayne, C, Rubinsztein, D C, Gill, M, Lawlor, B, Lynch, A, Brown, K S, Passmore, P A, Craig, D, McGuinness, B, Todd, S, Holmes, C, Mann, D, Smith, A D, Beaumont, H, Warden, D, Wilcock, G, Love, S, Kehoe, P G, Hooper, N M, Vardy, E R L C, Hardy, J, Mead, S, Fox, N C, Rossor, M, Collinge, J, Maier, W, Jessen, F, Ruther, E, Schurmann, B, Heun, R, Kolsch, H, van den Bussche, H, Heuser, I, Kornhuber, J, Wiltfang, J, Dichgans, M, Frolich, L, Hampel, H, Gallacher, J, Hull, M, Rujescu, D, Giegling, I, Goate, A M, Kauwe, J S K, Cruchaga, C, Nowotny, P, Morris, J C, Mayo, K, Sleegers, K, Bettens, K, Engelborghs, S, de Deyn, P P, Van Broeckhoven, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Gwilliam, R, Deloukas, P, Al-Chalabi, A, Shaw, C E, Tsolaki, M, Singleton, A B, Guerreiro, R, Muhleisen, T W, Nothen, M M, Moebus, S, Jockel, K H, Klopp, N, Wichmann, H E, Pankratz, V S, Sando, S B, Aasly, J O, Barcikowska, M, Wszolek, Z K, Dickson, D W & Graff-Radford, N R A O 2011, ' Common Variants at Abca7, Ms4A6A/Ms4A4E, Epha1, Cd33 and Cd2Ap Are Associated with Alzheimer'S Disease ', Nature Genetics, vol. 43, no. 5, pp. 429-435 . https://doi.org/10.1038/ng.803 |
ISSN: | 1061-4036 |
Popis: | We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ĝ‰Currency sign 1 × 10 -5. We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10 -17; including ADGC data, meta P = 5.0 × 10 -21) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10 -14; including ADGC data, meta P = 1.2 × 10 -16) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10 -4; including ADGC data, meta P = 8.6 × 10 -9), CD33 (GERAD+, P = 2.2 × 10 -4; including ADGC data, meta P = 1.6 × 10 -9) and EPHA1 (GERAD+, P = 3.4 × 10 -4; including ADGC data, meta P = 6.0 × 10 -10). © 2011 Nature America, Inc. All rights reserved. |
Databáze: | OpenAIRE |
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