Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J., 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., 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. 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., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K., Klopp, N., Wichmann, H., Pankratz, V. S., Sando, S. B., Aasly, J. O., Barcikowska, M., Wszolek, Z. K., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Alzheimer's Disease Neuroimaging Initiative, van Duijn, C. M., Breteler, M. M. B., Ikram, M. A., DeStefano, A. L., Fitzpatrick, A. L., Lopez, O., Launer, L. J., Seshadri, S., CHARGE consortium, Berr, C., Campion, D., Epelbaum, J., Dartigues, J., Tzourio, C., Alpérovitch, A., Lathrop, M., EADI1 consortium, 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., Björnsson, 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., 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. A., Jonsson, T., Riemenschneider, M., Morgan, K., Younkin, S. G., Owen, M. J., O'Donovan, M., Amouyel, P., & Williams, J. Nature Genetics, 43(5):429–435, May, 2011.
doi  abstract   bibtex   
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 ≤ 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)).
@article{hollingworth_common_2011,
	title = {Common variants at {ABCA7}, {MS4A6A}/{MS4A4E}, {EPHA1}, {CD33} and {CD2AP} are associated with {Alzheimer}'s disease},
	volume = {43},
	issn = {1546-1718},
	doi = {10.1038/ng.803},
	abstract = {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 ≤ 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)).},
	language = {eng},
	number = {5},
	journal = {Nature Genetics},
	author = {Hollingworth, Paul and Harold, Denise and Sims, Rebecca and Gerrish, Amy and Lambert, Jean-Charles and Carrasquillo, Minerva M. and Abraham, Richard and Hamshere, Marian L. and Pahwa, Jaspreet Singh and Moskvina, Valentina and Dowzell, Kimberley and Jones, Nicola and Stretton, Alexandra and Thomas, Charlene and Richards, Alex and Ivanov, Dobril and Widdowson, Caroline and Chapman, Jade and Lovestone, Simon and Powell, John and Proitsi, Petroula and Lupton, Michelle K. and Brayne, Carol and Rubinsztein, David C. and Gill, Michael and Lawlor, Brian and Lynch, Aoibhinn and Brown, Kristelle S. and Passmore, Peter A. and Craig, David and McGuinness, Bernadette and Todd, Stephen and Holmes, Clive and Mann, David and Smith, A. David and Beaumont, Helen and Warden, Donald and Wilcock, Gordon and Love, Seth and Kehoe, Patrick G. and Hooper, Nigel M. and Vardy, Emma R. L. C. and Hardy, John and Mead, Simon and Fox, Nick C. and Rossor, Martin and Collinge, John and Maier, Wolfgang and Jessen, Frank and Rüther, Eckart and Schürmann, Britta and Heun, Reiner and Kölsch, Heike and van den Bussche, Hendrik and Heuser, Isabella and Kornhuber, Johannes and Wiltfang, Jens and Dichgans, Martin and Frölich, Lutz and Hampel, Harald and Gallacher, John and Hüll, Michael and Rujescu, Dan and Giegling, Ina and Goate, Alison M. and Kauwe, John S. K. and Cruchaga, Carlos and Nowotny, Petra and Morris, John C. and Mayo, Kevin and Sleegers, Kristel and Bettens, Karolien and Engelborghs, Sebastiaan and De Deyn, Peter P. and Van Broeckhoven, Christine and Livingston, Gill and Bass, Nicholas J. and Gurling, Hugh and McQuillin, Andrew and Gwilliam, Rhian and Deloukas, Panagiotis and Al-Chalabi, Ammar and Shaw, Christopher E. and Tsolaki, Magda and Singleton, Andrew B. and Guerreiro, Rita and Mühleisen, Thomas W. and Nöthen, Markus M. and Moebus, Susanne and Jöckel, Karl-Heinz and Klopp, Norman and Wichmann, H.-Erich and Pankratz, V. Shane and Sando, Sigrid B. and Aasly, Jan O. and Barcikowska, Maria and Wszolek, Zbigniew K. and Dickson, Dennis W. and Graff-Radford, Neill R. and Petersen, Ronald C. and {Alzheimer's Disease Neuroimaging Initiative} and van Duijn, Cornelia M. and Breteler, Monique M. B. and Ikram, M. Arfan and DeStefano, Anita L. and Fitzpatrick, Annette L. and Lopez, Oscar and Launer, Lenore J. and Seshadri, Sudha and {CHARGE consortium} and Berr, Claudine and Campion, Dominique and Epelbaum, Jacques and Dartigues, Jean-François and Tzourio, Christophe and Alpérovitch, Annick and Lathrop, Mark and {EADI1 consortium} and Feulner, Thomas M. and Friedrich, Patricia and Riehle, Caterina and Krawczak, Michael and Schreiber, Stefan and Mayhaus, Manuel and Nicolhaus, S. and Wagenpfeil, Stefan and Steinberg, Stacy and Stefansson, Hreinn and Stefansson, Kari and Snaedal, Jon and Björnsson, Sigurbjörn and Jonsson, Palmi V. and Chouraki, Vincent and Genier-Boley, Benjamin and Hiltunen, Mikko and Soininen, Hilkka and Combarros, Onofre and Zelenika, Diana and Delepine, Marc and Bullido, Maria J. and Pasquier, Florence and Mateo, Ignacio and Frank-Garcia, Ana and Porcellini, Elisa and Hanon, Olivier and Coto, Eliecer and Alvarez, Victoria and Bosco, Paolo and Siciliano, Gabriele and Mancuso, Michelangelo and Panza, Francesco and Solfrizzi, Vincenzo and Nacmias, Benedetta and Sorbi, Sandro and Bossù, Paola and Piccardi, Paola and Arosio, Beatrice and Annoni, Giorgio and Seripa, Davide and Pilotto, Alberto and Scarpini, Elio and Galimberti, Daniela and Brice, Alexis and Hannequin, Didier and Licastro, Federico and Jones, Lesley and Holmans, Peter A. and Jonsson, Thorlakur and Riemenschneider, Matthias and Morgan, Kevin and Younkin, Steven G. and Owen, Michael J. and O'Donovan, Michael and Amouyel, Philippe and Williams, Julie},
	month = may,
	year = {2011},
	pmid = {21460840},
	pmcid = {PMC3084173},
	keywords = {Aged, Alzheimer Disease, Humans, Female, Male, Aged, 80 and over, Genetic Predisposition to Disease, Case-Control Studies, Genome-Wide Association Study, Adaptor Proteins, Signal Transducing, Polymorphism, Single Nucleotide, Antigens, CD, Antigens, Differentiation, Myelomonocytic, ATP-Binding Cassette Transporters, Cytoskeletal Proteins, Databases, Genetic, Genetic Variation, Membrane Proteins, Multigene Family, Receptor, EphA1, Sialic Acid Binding Ig-like Lectin 3},
	pages = {429--435}
}
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