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
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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