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155. GENOME-WIDE ASSOCIATION STUDY OF CEREBRAL MICROBLEEDS AND INFARCTION IDENTIFIES CANDIDATE GENES FOR VASCULAR RISK IN DEMENTIA

Author

Carrasquillo, Minerva M., Reddy, Joseph S., Allen, Mariet, Reyes, Denise A., McDonnell, Shannon K., Graff-Radford, Jonathan, Kosel, Matthew L., Gregory, Jenkins D., Nguyen, Thuy, Lincoln, Sarah J., Malphrus, Kimberly G., Crook, Julia E., Jack, Clifford R., Jr., Lowe, Val J., Knopman, David S., Petersen, Ronald C., Kantarci, Kejal, Bu, Guojun, and Ertekin-Taner, Nilufer

Published
2018
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158. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009)

Author

Harold, Denise, Abraham, Richard, Hollingworth, Paul, Sims, Rebecca, Gerrish, Amy, Hamshere, Marian L., Pahwa, Jaspreet Singh, Moskvina, Valentina, Dowzell, Kimberley, Williams, A., Jones, Nicola, Thomas, Charlene, Stretton, Alexandra, Morgan, Angharad R., Lovestone, Simon, Powell, John, Proitsi, Petroula, Lupton, Michelle K., Brayne, Carol, Rubinsztein, David C., Gill, Michael, Lawlor, Brian, Lynch, Aoibhinn, Morgan, Kevin, Brown, Kristelle S., Passmore, Peter A., Craig, David, McGuinness, Bernadette, Todd, Stephen, Holmes, Clive, Mann, David, Smith, A. David, Love, Seth, Kehoe, Patrick G., Hardy, John, Mead, Simon, Fox, Nick, Rossor, Martin, Collinge, John, Maier, Wolfgang, Jessen, Frank, Schürmann, Britta, van den Bussche, Hendrik, Heuser, Isabella, Kornhuber, Johannes, Wiltfang, Jens, Dichgans, Martin, Frölich, Lutz, Hampel, Harald, Hüll, Michael, Rujescu, Dan, Goate, Alison M., Kauwe, John S. K., Cruchaga, Carlos, Nowotny, Petra, Morris, John C., Mayo, Kevin, Sleegers, Kristel, Bettens, Karolien, Engelborghs, Sebastiaan, De Deyn, Peter P., Van Broeckhoven, Christine, Livingston, Gill, Bass, Nicholas J., Gurling, Hugh, McQuillin, Andrew, Gwilliam, Rhian, Deloukas, Panagiotis, Al-Chalabi, Ammar, Shaw, Christopher E., Tsolaki, Magda, Singleton, Andrew B., Guerreiro, Rita, Muehleisen, Thomas W., Noethen, Markus M., Moebus, Susanne, Jöckel, Karl-Heinz, Klopp, Norman, Wichmann, H-Erich, Carrasquillo, Minerva M., Pankratz, V. Shane, Younkin, Steven G., Holmans, Peter A., O'Donovan, Michael, Owen, Michael J., Williams, Julie, Clinical sciences, Neuroprotection & Neuromodulation, and Neurology

Subjects
Medicine(all), Alzheimer's disease
Published
2013

159. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W., Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Andre Uitterlinden, A. G., Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, C. O’Donovan, Michael, DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, and Pericak-Vance, Margaret A.

Abstract

Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1,and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer’s or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer’s disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P= 1.32 × 10−7), indicating that additional rare variants remain to be identified. We also identify important genetic correlations between LOAD and traits such as family history of dementia and education.

Published
2019
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160. Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer's Disease Pathology

Author

Zou, Fanggeng, Belbin, Olivia, Petersen, Ronald C, disease, Genetic and Environmental Risk for Alzheimer’s, Morgan, Kevin, Younkin, Steven G, Harold, Denise, Sims, Rebecca, Gerrish, Amy, Chapman, Jade, Moskvina, Valentina, Abraham, Richard, Carrasquillo, Minerva M, Hollingworth, Paul, Hamshere, Marian, Pahwa, Jaspreet Singh, Dowzell, Kimberley, Williams, Amy, Jones, Nicola, Thomas, Charlene, Stretton, Alexandra, Morgan, Angharad, Williams, Kate, Culley, Oliver J, Lovestone, Simon, Powell, John, Proitsi, Petroula, Lupton, Michelle K, Brayne, Carol, Rubinsztein, David C, Gill, Michael, Lawlor, Brian, Lynch, Aoibhinn, Hunter, Talisha A, Brown, Kristelle, Passmore, Peter, Craig, David, McGuinness, Bernadette, Johnston, Janet A, Todd, Stephen, Holmes, Clive, Mann, David, Smith, A David, Love, Seth, Ma, Li, Kehoe, Patrick G, Hardy, John, Guerreiro, Rita, Singleton, Andrew, Mead, Simon, Fox, Nick, Rossor, Martin, Collinge, John, Maier, Wolfgang, Jessen, Frank, Bisceglio, Gina D, Heun, Reiner, Schürmann, Britta, Ramirez, Alfredo, Herold, Christine, Lacour, André, Drichel, Dmitriy, van den Bussche, Hendrik, Heuser, Isabella, Kornhuber, Johannes, Wiltfang, Jens, Allen, Mariet, Dichgans, Martin, Frölich, Lutz, Hampel, Harald, Hüll, Michael, Rujescu, Dan, Goate, Alison, Kauwe, John S K, Cruchaga, Carlos, Nowotny, Petra, Morris, John C, Dickson, Dennis W, Mayo, Kevin, Livingston, Gill, Bass, Nicholas J, Gurling, Hugh, McQuillin, Andrew, Gwilliam, Rhian, Deloukas, Panagiotis, Nöthen, Markus M, Holmans, Peter, O'Donovan, Michael, Graff-Radford, Neill R, Owen, Michael J, Williams, Julie, and Wiltfang, Jens (Beitragende*r)

Subjects
Male, Pathology, Heredity, Medizin, lcsh:Medicine, Gene Expression, genetics [Alzheimer Disease], pathology [Alzheimer Disease], 0302 clinical medicine, Polymorphism (computer science), Risk Factors, genetics [Adaptor Proteins, Signal Transducing], Senile plaques, lcsh:Science, 0303 health sciences, Multidisciplinary, Temporal Lobe, Neurology, genetics [Polymorphism, Single Nucleotide], Medicine, Female, Alzheimer's disease, Research Article, medicine.medical_specialty, Genotypes, genetics [Genetic Loci], Biology, metabolism [RNA, Messenger], Polymorphism, Single Nucleotide, metabolism [Temporal Lobe], Cell Line, Molecular Genetics, 03 medical and health sciences, metabolism [Adaptor Proteins, Signal Transducing], genetics [RNA, Messenger], Genetic Heterogeneity, Apolipoproteins E, Meta-Analysis as Topic, Alzheimer Disease, genetics [Haplotypes], medicine, GAB2 protein, human, Genetics, Humans, Genetic Predisposition to Disease, ddc:610, RNA, Messenger, Allele, Genetic Association Studies, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aged, Evolutionary Biology, Population Biology, Genetic heterogeneity, lcsh:R, Case-control study, Computational Biology, Neurofibrillary tangle, pathology [Temporal Lobe], Human Genetics, Epistasis, Genetic, Odds ratio, medicine.disease, R1, Haplotypes, Genetic Loci, Case-Control Studies, Postmortem Changes, Genetics of Disease, North America, Genetic Polymorphism, Epistasis, genetics [Apolipoproteins E], lcsh:Q, Dementia, 030217 neurology & neurosurgery, Population Genetics
Abstract

GRB-associated binding protein 2 (GAB2) represents a compelling genome-wide association signal for late-onset Alzheimer's disease (LOAD) with reported odds ratios (ORs) ranging from 0.75-0.85. We tested eight GAB2 variants in four North American Caucasian case-control series (2,316 LOAD, 2,538 controls) for association with LOAD. Meta-analyses revealed ORs ranging from (0.61-1.20) with no significant association (all p>0.32). Four variants were hetergeneous across the populations (all p

Published
2013
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161. Corrigendum to “Genome-wide association interaction analysis for Alzheimer's disease.” [Neurobiol. Aging 35 (2014) 2436–2443]

Author

Gusareva, Elena S., primary, Carrasquillo, Minerva M., additional, Bellenguez, Céline, additional, Cuyvers, Elise, additional, Colon, Samuel, additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Dickson, Dennis W., additional, Mahachie John, Jestinah M., additional, Bessonov, Kyrylo, additional, Van Broeckhoven, Christine, additional, Ramirez, Alfredo, additional, Harold, Denise, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Sleegers, Kristel, additional, Ertekin-Taner, Nilüfer, additional, Lambert, Jean-Charles, additional, and Van Steen, Kristel, additional

Published
2016
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162. Convergent genetic and expression data implicate immunity in Alzheimer's disease

Author

Jones, Lesley, Lambert, Jean-Charles, Wang, Li-San, Choi, Seung-Hoan, Harold, Denise, Vedernikov, Alexey, Escott-Price, Valentina, Stone, Timothy, Richards, Alexander, Bellenguez, Celine, Ibrahim-Verbaas, Carla A., Naj, Adam C., Sims, Rebecca, Gerrish, Amy, Jun, Gyungah, DeStefano, Anita L., Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Jones, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Schmidt, Helena, Kunkle, Brian W., Dunstan, Melanie L., Ruiz, Agustin, Bihoreau, Marie-Therese, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letteneur, Luc, Kornhuber, Johanes, Tarraga, Lluis, Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Emilsson, Valur, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Kehoe, Pat, Rogaeva, Ekaterina, Gallacher, John, St George-Hyslop, Peter, Clarimon, Jordi, Lleo, Alberti, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petra, Collinge, John, Sorbi, Sandro, Garcia, Fiorentino Sanchez, Fox, Nick, Hardy, John, Deniz Naranjo, Maria Candida, Razquin, Cristina, Bosco, Paola, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Mancuso, Michelangelo, Moebus, Susanne, Mecocci, Patrizia, del Zompo, Maria, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Bullido, Maria, Panza, Francesco, Caffarra, Paolo, Nacmias, Benedetta, Gilbert, John R., Mayhaus, Manuel, Jessen, Frank, Dichgans, Martin, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alavarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H., Jr., Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nails, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Pastor, Pau, Schmidt, Reinhold, Rujescu, Dan, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Noethen, Markus M., Graff, Caroline, Psaty, Bruce M., Haines, Jonathan L., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Farrer, Lindsay A., van Duijn, Cornelia M., Van Broeckhoven, Christine, Ramirez, Alfredo, Schellenberg, Gerard D., Seshadri, Sudha, Amouyel, Philippe, Williams, Julie, Holmans, Peter A., Jones, Lesley, Lambert, Jean-Charles, Wang, Li-San, Choi, Seung-Hoan, Harold, Denise, Vedernikov, Alexey, Escott-Price, Valentina, Stone, Timothy, Richards, Alexander, Bellenguez, Celine, Ibrahim-Verbaas, Carla A., Naj, Adam C., Sims, Rebecca, Gerrish, Amy, Jun, Gyungah, DeStefano, Anita L., Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Jones, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Schmidt, Helena, Kunkle, Brian W., Dunstan, Melanie L., Ruiz, Agustin, Bihoreau, Marie-Therese, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letteneur, Luc, Kornhuber, Johanes, Tarraga, Lluis, Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Emilsson, Valur, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Kehoe, Pat, Rogaeva, Ekaterina, Gallacher, John, St George-Hyslop, Peter, Clarimon, Jordi, Lleo, Alberti, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petra, Collinge, John, Sorbi, Sandro, Garcia, Fiorentino Sanchez, Fox, Nick, Hardy, John, Deniz Naranjo, Maria Candida, Razquin, Cristina, Bosco, Paola, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Mancuso, Michelangelo, Moebus, Susanne, Mecocci, Patrizia, del Zompo, Maria, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Bullido, Maria, Panza, Francesco, Caffarra, Paolo, Nacmias, Benedetta, Gilbert, John R., Mayhaus, Manuel, Jessen, Frank, Dichgans, Martin, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alavarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H., Jr., Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nails, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Pastor, Pau, Schmidt, Reinhold, Rujescu, Dan, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Noethen, Markus M., Graff, Caroline, Psaty, Bruce M., Haines, Jonathan L., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Farrer, Lindsay A., van Duijn, Cornelia M., Van Broeckhoven, Christine, Ramirez, Alfredo, Schellenberg, Gerard D., Seshadri, Sudha, Amouyel, Philippe, Williams, Julie, and Holmans, Peter A.

Abstract

Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 X 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 X 10(-11)), cholesterol transport (P = 2.96 X 10(-9)), and proteasome-ubiquitin activity (P = 1.34 X 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). Conclusions: The immime response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.

Published
2015
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163. Erratum to : Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility

Author

Sevlever, Daniel, Zou, Fanggeng, Ma, Li, Carrasquillo, Sebastian, Crump, Michael G., Culley, Oliver J., Hunter, Talisha A., Bisceglio, Gina D., Younkin, Linda, Allen, Mariet, Carrasquillo, Minerva M., Sando, Sigrid B., Aasly, Jan O., Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Deák, Ferenc, Belbin, Olivia, Universitat Autònoma de Barcelona, Sevlever, Daniel, Zou, Fanggeng, Ma, Li, Carrasquillo, Sebastian, Crump, Michael G., Culley, Oliver J., Hunter, Talisha A., Bisceglio, Gina D., Younkin, Linda, Allen, Mariet, Carrasquillo, Minerva M., Sando, Sigrid B., Aasly, Jan O., Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Deák, Ferenc, Belbin, Olivia, and Universitat Autònoma de Barcelona

Published
2015

164. Late-onset Alzheimer disease risk variants mark brain regulatory loci

Author

Allen, Mariet, primary, Kachadoorian, Michaela, additional, Carrasquillo, Minerva M., additional, Karhade, Aditya, additional, Manly, Lester, additional, Burgess, Jeremy D., additional, Wang, Chen, additional, Serie, Daniel, additional, Wang, Xue, additional, Siuda, Joanna, additional, Zou, Fanggeng, additional, Chai, High Seng, additional, Younkin, Curtis, additional, Crook, Julia, additional, Medway, Christopher, additional, Nguyen, Thuy, additional, Ma, Li, additional, Malphrus, Kimberly, additional, Lincoln, Sarah, additional, Petersen, Ronald C., additional, Graff-Radford, Neill R., additional, Asmann, Yan W., additional, Dickson, Dennis W., additional, Younkin, Steven G., additional, and Ertekin-Taner, Nilüfer, additional

Published
2015
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165. P2-025: Genetic and epigenetic influences on brain gene expression in psp

Author

Allen, Mariet, primary, Wang, Xue, additional, Younkin, Curtis S., additional, Burgess, Jeremy D., additional, Ballard, Travis, additional, Serie, Daniel, additional, Wang, Chen, additional, Sun, Zhifu, additional, Baheti, Saurabh, additional, Carrasquillo, Minerva M., additional, Nguyen, Thuy, additional, Malphrus, Kimberly G., additional, Lincoln, Sarah, additional, Zou, Fanggeng, additional, Chai, High-Seng, additional, Schellenberg, Gerard D., additional, Younkin, Steven G., additional, Crook, Julia, additional, Ordog, Tamas, additional, Asmann, Yan W., additional, Dickson, Dennis W., additional, and Taner, Nilufer, additional

Published
2015
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167. F2-03-04: Genetic risk factors for posterior cortical atrophy

Author

Schott, Jonathan M., primary, Crutch, Sebastian J., additional, Carrasquillo, Minerva M., additional, Uphill, James, additional, Shakespeare, Tim J., additional, Ryan, Natalie S., additional, Lehmann, Manja, additional, Taner, Nilufer, additional, Graff-Radford, Neil, additional, Boeve, Bradley, additional, Murray, Melissa E., additional, Qurat ul Ain, Khan, additional, Petersen, Ronald C., additional, Dickson, Dennis W., additional, Knopman, David S., additional, Rabinovici, Gil D., additional, Gonzalez, Aida Suarez, additional, Gil-Néciga, Eulogio, additional, Snowden, Julie S., additional, Harris, Jenny, additional, Pickering-Brown, Stuart, additional, Louwersheimer, Eva, additional, van der Flier, Wiesje M., additional, Scheltens, Philip, additional, Pijnenburg, Yolande A.L., additional, Galasko, Douglas, additional, Sarazin, Marie, additional, Dubois, Bruno, additional, Magnin, Eloi, additional, Galimberti, Daniela, additional, Scarpini, Elio, additional, Cappa, Stefano F., additional, Hodges, John R., additional, Halliday, Glenda M., additional, Bartley, Lauren, additional, Bras, Jose T., additional, Hardy, John, additional, Rossor, Martin N., additional, Collinge, John, additional, Fox, Nick C., additional, and Mead, Simon, additional

Published
2015
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168. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson’s Disease Locus

Author

Labbé, Catherine, primary, Ogaki, Kotaro, additional, Lorenzo-Betancor, Oswaldo, additional, Carrasquillo, Minerva M., additional, Heckman, Michael G., additional, McCarthy, Allan, additional, Soto-Ortolaza, Alexandra I., additional, Walton, Ronald L., additional, Lynch, Timothy, additional, Siuda, Joanna, additional, Opala, Grzegorz, additional, Krygowska-Wajs, Anna, additional, Barcikowska, Maria, additional, Czyzewski, Krzysztof, additional, Dickson, Dennis W., additional, Uitti, Ryan J., additional, Wszolek, Zbigniew K., additional, and Ross, Owen A., additional

Published
2015
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169. TREM2 is associated with increased risk for Alzheimer’s disease in African Americans

Author

Jin, Sheng Chih, primary, Carrasquillo, Minerva M, additional, Benitez, Bruno A, additional, Skorupa, Tara, additional, Carrell, David, additional, Patel, Dwani, additional, Lincoln, Sarah, additional, Krishnan, Siddharth, additional, Kachadoorian, Michaela, additional, Reitz, Christiane, additional, Mayeux, Richard, additional, Wingo, Thomas S, additional, Lah, James J, additional, Levey, Allan I, additional, Murrell, Jill, additional, Hendrie, Hugh, additional, Foroud, Tatiana, additional, Graff-Radford, Neill R, additional, Goate, Alison M, additional, Cruchaga, Carlos, additional, and Ertekin-Taner, Nilüfer, additional

Published
2015
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172. Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

Author

Jun, Gyungah R., Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W., Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Carrasquillo, Minerva M., Crane, Paul K., Cruchaga, Carlos, De Jager, Philip, Ertekin-Taner, Nilufer, Evans, Denis, Fallin, M. Danielle, Foroud, Tatiana M., Friedland, Robert P., Goate, Alison M., Graff-Radford, Neill R., and Hendrie, Hugh

Abstract

Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome-wide association study (GWAS) for late-onset AD in Stage 1 sample including whites of European Ancestry, African-Americans, Japanese, and Israeli-Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1-AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene-based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci. [ABSTRACT FROM AUTHOR]

Published
2017
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173. A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression.

Author

Carrasquillo, Minerva M., Allen, Mariet, Burgess, Jeremy D., Wang, Xue, Strickland, Samantha L., Aryal, Shivani, Siuda, Joanna, Kachadoorian, Michaela L., Medway, Christopher, Younkin, Curtis S., Nair, Asha, Wang, Chen, Chanana, Pritha, Serie, Daniel, Nguyen, Thuy, Lincoln, Sarah, Malphrus, Kimberly G., Morgan, Kevin, Golde, Todd E., and Price, Nathan D.

Abstract

Introduction We hypothesized that common Alzheimer's disease (AD)-associated variants within the triggering receptor expressed on myeloid ( TREM ) gene cluster influence disease through gene expression. Methods Expression microarrays on temporal cortex and cerebellum from ∼400 neuropathologically diagnosed subjects and two independent RNAseq replication cohorts were used for expression quantitative trait locus analysis. Results A variant within a DNase hypersensitive site 5′ of TREM2 , rs9357347-C, associates with reduced AD risk and increased TREML1 and TREM2 levels (uncorrected P = 6.3 × 10 −3 and 4.6 × 10 −2 , respectively). Meta-analysis on expression quantitative trait locus results from three independent data sets ( n = 1006) confirmed these associations (uncorrected P = 3.4 × 10 −2 and 3.5 × 10 −3 , Bonferroni-corrected P = 6.7 × 10 −2 and 7.1 × 10 −3 , respectively). Discussion Our findings point to rs9357347 as a functional regulatory variant that contributes to a protective effect observed at the TREM locus in the International Genomics of Alzheimer's Project genome-wide association study meta-analysis and suggest concomitant increase in TREML1 and TREM2 brain levels as a potential mechanism for protection from AD. [ABSTRACT FROM AUTHOR]

Published
2017
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174. Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Author

N'Songo, Aurelie, Carrasquillo, Minerva M., Xue Wang, Nguyen, Thuy, Asmann, Yan, Younkin, Steven G., Allena, Mariet, Duara, Ranjan, Greig Custo, Maria T., Graff-Radford, Neill, Ertekin-Tanera, Nilüfer, Wang, Xue, Allen, Mariet, Custo, Maria T Greig, and Ertekin-Taner, Nilüfer

Subjects
*ALZHEIMER'S disease diagnosis, *PYRAMIDAL neurons, *DNA, *GENOMES, *MOLECULAR genetics
Abstract

We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects in which PSEN2:NM_000447:exon5:c.T331C:p.Phe111Leu and PSEN1-minilin rs777923890 variants were again not observed, indicating that these novel rare variants, may contribute to AD risk in this population. [ABSTRACT FROM AUTHOR]

Published
2017
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175. The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.

Author

Matchett, Billie J., Lincoln, Sarah J., Baker, Matt, Tamvaka, Nikoleta, Labuzan, Sydney A., Hicks Sirmans, Tiffany N., Moloney, Christina M., Helminger, Jacqueline, Hinkle, Kelly M., Cabrera-Rodriguez, Janisse, Wickland, Daniel P., Johnson, Patrick W., Heckman, Michael G., Reddy, Joseph S., Younkin, Steven G., Carrasquillo, Minerva M., Duara, Ranjan, Graff-Radford, Neill R., Pottier, Cyril, and Ertekin-Taner, Nilüfer

Published
2023
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176. Late-onset Alzheimer’s risk variants in memory decline, incident mild cognitive impairment, and Alzheimer’s disease

Author

Carrasquillo, Minerva M., primary, Crook, Julia E., additional, Pedraza, Otto, additional, Thomas, Colleen S., additional, Pankratz, V. Shane, additional, Allen, Mariet, additional, Nguyen, Thuy, additional, Malphrus, Kimberly G., additional, Ma, Li, additional, Bisceglio, Gina D., additional, Roberts, Rosebud O., additional, Lucas, John A., additional, Smith, Glenn E., additional, Ivnik, Robert J., additional, Machulda, Mary M., additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Younkin, Steven G., additional, and Ertekin-Taner, Nilüfer, additional

Published
2015
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177. Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma

Author

Carrasquillo, Minerva M., Nicholson, Alexandra M., Finch, NiCole, Gibbs, J. Raphael, Baker, Matt, Rutherford, Nicola J., Hunter, Talisha A., DeJesus-Hernandez, Mariely, Bisceglio, Gina D., Mackenzie, Ian R., Singleton, Andrew, Cookson, Mark R., Crook, Julia E., Dillman, Allissa, Hernandez, Dena, Petersen, Ronald C., Graff-Radford, Neill R., Younkin, Steven G., and Rademakers, Rosa

Published
2010
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178. Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease

Author

Naj, Adam C, Naj, Adam C, Jun, Gyungah, Reitz, Christiane, Kunkle, Brian W, Perry, William, Park, Yo Son, Beecham, Gary W, Rajbhandary, Ruchita A, Hamilton-Nelson, Kara L, Wang, Li-San, Kauwe, John S. K, Huentelman, Matthew J, Myers, Amanda J, Bird, Thomas D, Boeve, Bradley F, Baldwin, Clinton T, Jarvik, Gail P, Crane, Paul K, Rogaeva, Ekaterina, Barmada, M. Michael, Demirci, F. Yesim, Cruchaga, Carlos, Kramer, Patricia L, Ertekin-Taner, Nilufer, Hardy, John, Graff-Radford, Neill R, Green, Robert C, Larson, Eric B, St. George-Hyslop, Peter H, Buxbaum, Joseph D, Evans, Denis A, Schneider, Julie A, Lunetta, Kathryn L, Kamboh, M. Ilyas, Saykin, Andrew J, Reiman, Eric M, De Jager, Philip L, Bennett, David A, Morris, John C, Montine, Thomas J, Goate, Alison M, Blacker, Deborah, Tsuang, Debby W, Hakonarson, Hakon, Kukull, Walter A, Foroud, Tatiana M, Martin, Eden R, Haines, Jonathan L, Mayeux, Richard P, Farrer, Lindsay A, Schellenberg, Gerard D, Pericak-Vance, Margaret A, Albert, Marilyn S, Albin, Roger L, Apostolova, Liana G, Arnold, Steven E, Barber, Robert, Barnes, Lisa L, Beach, Thomas G, Becker, James T, Beekly, Duane, Bigio, Eileen H, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Cantwell, Laura B, Cao, Chuanhai, Carlson, Chris S, Carney, Regina M, Carrasquillo, Minerva M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cribbs, David H, Crocco, Elizabeth A, DeCarli, Charles, DeKosky, Steven T, Dick, Malcolm, Dickson, Dennis W, Duara, Ranjan, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Glass, Jonathan D, Growdon, John H, Hamilton, Ronald L, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, Hulette, Christine M, Naj, Adam C, Naj, Adam C, Jun, Gyungah, Reitz, Christiane, Kunkle, Brian W, Perry, William, Park, Yo Son, Beecham, Gary W, Rajbhandary, Ruchita A, Hamilton-Nelson, Kara L, Wang, Li-San, Kauwe, John S. K, Huentelman, Matthew J, Myers, Amanda J, Bird, Thomas D, Boeve, Bradley F, Baldwin, Clinton T, Jarvik, Gail P, Crane, Paul K, Rogaeva, Ekaterina, Barmada, M. Michael, Demirci, F. Yesim, Cruchaga, Carlos, Kramer, Patricia L, Ertekin-Taner, Nilufer, Hardy, John, Graff-Radford, Neill R, Green, Robert C, Larson, Eric B, St. George-Hyslop, Peter H, Buxbaum, Joseph D, Evans, Denis A, Schneider, Julie A, Lunetta, Kathryn L, Kamboh, M. Ilyas, Saykin, Andrew J, Reiman, Eric M, De Jager, Philip L, Bennett, David A, Morris, John C, Montine, Thomas J, Goate, Alison M, Blacker, Deborah, Tsuang, Debby W, Hakonarson, Hakon, Kukull, Walter A, Foroud, Tatiana M, Martin, Eden R, Haines, Jonathan L, Mayeux, Richard P, Farrer, Lindsay A, Schellenberg, Gerard D, Pericak-Vance, Margaret A, Albert, Marilyn S, Albin, Roger L, Apostolova, Liana G, Arnold, Steven E, Barber, Robert, Barnes, Lisa L, Beach, Thomas G, Becker, James T, Beekly, Duane, Bigio, Eileen H, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Cantwell, Laura B, Cao, Chuanhai, Carlson, Chris S, Carney, Regina M, Carrasquillo, Minerva M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cribbs, David H, Crocco, Elizabeth A, DeCarli, Charles, DeKosky, Steven T, Dick, Malcolm, Dickson, Dennis W, Duara, Ranjan, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Glass, Jonathan D, Growdon, John H, Hamilton, Ronald L, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, and Hulette, Christine M

Published
2014

179. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Escott-Price, Valentina, Bellenguez, Celine, Wang, Li-San, Choi, Seung-Hoan, Harold, Denise, Jones, Lesley, Holmans, Peter, Gerrish, Amy, Vedernikov, Alexey, Richards, Alexander, DeStefano, Anita L., Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A., Naj, Adam C., Sims, Rebecca, Jun, Gyungah, Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Denning, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Schmidt, Helena, Kunkle, Brian, Dunstan, Melanie L., Vronskaya, Maria, Johnson, Andrew D., Ruiz, Agustin, Bihoreau, Marie-Therese, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Baldwin, Clinton, Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letenneur, Luc, Hernandez, Isabel, Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Rogaeva, Ekaterina, Gallacher, John, George-Hyslop, Peter St, Clarimon, Jordi, Lleo, Alberto, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petra, Collinge, John, Sorbi, Sandro, Garcia, Florentino Sanchez, Fox, Nick C., Hardy, John, Naranjo, Maria Candida Deniz, Bosco, Paolo, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Scarpini, Elio, Bonuccelli, Ubaldo, Mancuso, Michelangelo, Siciliano, Gabriele, Moebus, Susanne, Mecocci, Patrizia, Zompo, Maria Del, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Frank-Garcia, Ana, Panza, Francesco, Solfrizzi, Vincenzo, Caffarra, Paolo, Nacmias, Benedetta, Perry, William, Mayhaus, Manuel, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alvarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Gu, Wei, Razquin, Cristina, Pastor, Pau, Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H. Jr, Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nalls, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Schmidt, Reinhold, Rujescu, Dan, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Nothen, Markus M., Graff, Caroline, Psaty, Bruce M., Haines, Jonathan L., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Van Broeckhoven, Christine, Farrer, Lindsay A., van Duijn, Cornelia M., Ramirez, Alfredo, Seshadri, Sudha, Schellenberg, Gerard D., Amouyel, Philippe, Williams, Julie, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Escott-Price, Valentina, Bellenguez, Celine, Wang, Li-San, Choi, Seung-Hoan, Harold, Denise, Jones, Lesley, Holmans, Peter, Gerrish, Amy, Vedernikov, Alexey, Richards, Alexander, DeStefano, Anita L., Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A., Naj, Adam C., Sims, Rebecca, Jun, Gyungah, Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Denning, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Schmidt, Helena, Kunkle, Brian, Dunstan, Melanie L., Vronskaya, Maria, Johnson, Andrew D., Ruiz, Agustin, Bihoreau, Marie-Therese, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Baldwin, Clinton, Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letenneur, Luc, Hernandez, Isabel, Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Rogaeva, Ekaterina, Gallacher, John, George-Hyslop, Peter St, Clarimon, Jordi, Lleo, Alberto, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petra, Collinge, John, Sorbi, Sandro, Garcia, Florentino Sanchez, Fox, Nick C., Hardy, John, Naranjo, Maria Candida Deniz, Bosco, Paolo, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Scarpini, Elio, Bonuccelli, Ubaldo, Mancuso, Michelangelo, Siciliano, Gabriele, Moebus, Susanne, Mecocci, Patrizia, Zompo, Maria Del, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Frank-Garcia, Ana, Panza, Francesco, Solfrizzi, Vincenzo, Caffarra, Paolo, Nacmias, Benedetta, Perry, William, Mayhaus, Manuel, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alvarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Gu, Wei, Razquin, Cristina, Pastor, Pau, Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H. Jr, Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nalls, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Schmidt, Reinhold, Rujescu, Dan, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Nothen, Markus M., Graff, Caroline, Psaty, Bruce M., Haines, Jonathan L., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Van Broeckhoven, Christine, Farrer, Lindsay A., van Duijn, Cornelia M., Ramirez, Alfredo, Seshadri, Sudha, Schellenberg, Gerard D., Amouyel, Philippe, and Williams, Julie

Abstract

BACKGROUND: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. PRINCIPAL FINDINGS: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10-6) and 14 (IGHV1-67 p = 7.9x10-8) which indexed novel susceptibility loci. SIGNIFICANCE: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.

Published
2014

180. Genome-wide association interaction analysis for Alzheimer's disease

Author

Gusareva, Elena S., primary, Carrasquillo, Minerva M., additional, Bellenguez, Céline, additional, Cuyvers, Elise, additional, Colon, Samuel, additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Dickson, Dennis W., additional, Mahachie John, Jestinah M., additional, Bessonov, Kyrylo, additional, Van Broeckhoven, Christine, additional, Harold, Denise, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Sleegers, Kristel, additional, Ertekin-Taner, Nilüfer, additional, Lambert, Jean-Charles, additional, and Van Steen, Kristel, additional

Published
2014
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181. Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease

Author

Naj, Adam C., primary, Jun, Gyungah, additional, Reitz, Christiane, additional, Kunkle, Brian W., additional, Perry, William, additional, Park, Yo Son, additional, Beecham, Gary W., additional, Rajbhandary, Ruchita A., additional, Hamilton-Nelson, Kara L., additional, Wang, Li-San, additional, Kauwe, John S. K., additional, Huentelman, Matthew J., additional, Myers, Amanda J., additional, Bird, Thomas D., additional, Boeve, Bradley F., additional, Baldwin, Clinton T., additional, Jarvik, Gail P., additional, Crane, Paul K., additional, Rogaeva, Ekaterina, additional, Barmada, M. Michael, additional, Demirci, F. Yesim, additional, Cruchaga, Carlos, additional, Kramer, Patricia L., additional, Ertekin-Taner, Nilufer, additional, Hardy, John, additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Larson, Eric B., additional, St. George-Hyslop, Peter H., additional, Buxbaum, Joseph D., additional, Evans, Denis A., additional, Schneider, Julie A., additional, Lunetta, Kathryn L., additional, Kamboh, M. Ilyas, additional, Saykin, Andrew J., additional, Reiman, Eric M., additional, De Jager, Philip L., additional, Bennett, David A., additional, Morris, John C., additional, Montine, Thomas J., additional, Goate, Alison M., additional, Blacker, Deborah, additional, Tsuang, Debby W., additional, Hakonarson, Hakon, additional, Kukull, Walter A., additional, Foroud, Tatiana M., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, Mayeux, Richard P., additional, Farrer, Lindsay A., additional, Schellenberg, Gerard D., additional, Pericak-Vance, Margaret A., additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Barber, Robert, additional, Barnes, Lisa L., additional, Beach, Thomas G., additional, Becker, James T., additional, Beekly, Duane, additional, Bigio, Eileen H., additional, Bowen, James D., additional, Boxer, Adam, additional, Burke, James R., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Chris S., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Carroll, Steven L., additional, Chui, Helena C., additional, Clark, David G., additional, Corneveaux, Jason, additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, DeCarli, Charles, additional, DeKosky, Steven T., additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Duara, Ranjan, additional, Faber, Kelley M., additional, Fallon, Kenneth B., additional, Farlow, Martin R., additional, Ferris, Steven, additional, Frosch, Matthew P., additional, Galasko, Douglas R., additional, Ganguli, Mary, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Glass, Jonathan D., additional, Growdon, John H., additional, Hamilton, Ronald L., additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Honig, Lawrence S., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Jicha, Gregory A., additional, Jin, Lee-Way, additional, Karydas, Anna, additional, Kaye, Jeffrey A., additional, Kim, Ronald, additional, Koo, Edward H., additional, Kowall, Neil W., additional, Kramer, Joel H., additional, LaFerla, Frank M., additional, Lah, James J., additional, Leverenz, James B., additional, Levey, Allan I., additional, Li, Ge, additional, Lieberman, Andrew P., additional, Lin, Chiao-Feng, additional, Lopez, Oscar L., additional, Lyketsos, Constantine G., additional, Mack, Wendy J., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Murrell, Jill R., additional, Olichney, John M., additional, Pankratz, Vernon S., additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reisberg, Barry, additional, Ringman, John M., additional, Roberson, Erik D., additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Sano, Mary, additional, Schneider, Lon S., additional, Seeley, William W., additional, Smith, Amanda G., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, Stern, Robert A., additional, Tanzi, Rudolph E., additional, Thornton-Wells, Tricia A., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Valladares, Otto, additional, Van Deerlin, Vivianna M., additional, Van Eldik, Linda J., additional, Vardarajan, Badri N., additional, Vinters, Harry V., additional, Vonsattel, Jean Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Williamson, Jennifer, additional, Wishnek, Sarah, additional, Woltjer, Randall L., additional, Wright, Clinton B., additional, Younkin, Steven G., additional, Yu, Chang-En, additional, and Yu, Lei, additional

Published
2014
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182. P1-055: MULTIPLE ABCA7 MISSENSE VARIANTS MINED FROM THE EXOME VARIANT SERVER SHOW INDEPENDENT ASSOCIATION WITH INCREASED OR DECREASED RISK OF LATE-ONSET ALZHEIMER'S DISEASE (LOAD)

Author

Medway, Christopher William, primary, Abdul-Hay, Samer, additional, Mims, Tynickwa, additional, Zou, Fanggeng, additional, Ma, Li, additional, Bisceglio, Gina, additional, Pankratz, Shane, additional, Sando, Sigrid, additional, Aasly, Jan, additional, Barcikowska, Maria, additional, Siuda, Joanna, additional, Wszolek, Zbigniew, additional, Ross, Owen, additional, Carrasquillo, Minerva M., additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Petersen, Ronald Carl, additional, Ertekin-Taner, Nilufer, additional, Morgan, Kevin, additional, and Younkin, Steven, additional

Published
2014
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183. O4-04-06: TRANSCRIPTIONAL REGULATION OF GENES AT THE ALZHEIMER'S DISEASE RISK LOCI

Author

Kachadoorian, Michaela, primary, Allen, Mariet, additional, Lincoln, Sarah, additional, Karhade, Aditya, additional, Manly, Lester, additional, Zou, Fanggeng, additional, Chai, High Seng, additional, Younkin, Curtis, additional, Crook, Julia, additional, Pancratz, V. Shane, additional, Carrasquillo, Minerva M., additional, Nair, Asha, additional, Middha, Sumit, additional, Maharjan, Sooraj, additional, Nguyen, Thuy, additional, Ma, Li, additional, Malphrus, Kimberly, additional, Bisceglio, Gina, additional, Petersen, Ronald Carl, additional, Graff-Radford, Neill R., additional, Dickson, Dennis W., additional, Younkin, Steven, additional, and Ertekin-Taner, Nilufer, additional

Published
2014
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184. P3-022: TRANSCRIPTIONAL REGULATION AT THE TREM GENE CLUSTER IN AD BRAINS

Author

Carrasquillo, Minerva M., primary, Allen, Mariet, additional, Zou, Fanggeng, additional, Chai, High Seng, additional, Younkin, Curtis, additional, Crook, Julia, additional, Pancratz, V. Shane, additional, Nair, Asha, additional, Middha, Sumit, additional, Maharjan, Sooraj, additional, Nguyen, Thuy, additional, Ma, Li, additional, Lincoln, Sarah, additional, Malphrus, Kimberly, additional, Bisceglio, Gina, additional, Petersen, Ronald Carl, additional, Graff-Radford, Neill R., additional, Dickson, Dennis W., additional, Younkin, Steven, additional, and Ertekin-Taner, Nilufer, additional

Published
2014
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185. O3-04-01: NEXT-GENERATION RNA SEQUENCING IN ALZHEIMER'S DISEASE AND PROGRESSIVE SUPRANUCLEAR PALSY

Author

Ertekin-Taner, Nilufer, primary, Wang, Chen, additional, Carrasquillo, Minerva M., additional, Allen, Mariet, additional, Younkin, Curtis, additional, Serie, Daniel, additional, Wang, Xue, additional, Pancratz, V. Shane, additional, Nguyen, Thuy, additional, Ma, Li, additional, Malphrus, Kimberly, additional, Lincoln, Sarah, additional, Petersen, Ronald Carl, additional, Graff-Radford, Neill R., additional, Dickson, Dennis W., additional, Younkin, Steven, additional, and Asmann, Yan, additional

Published
2014
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186. O3-04-06: GENE EXPRESSION PROFILING AND DNA METHYLATION IN ALZHEIMER'S DISEASE BRAINS

Author

Allen, Mariet, primary, Serie, Daniel, additional, Sun, Zhifu, additional, Baheti, Saurabh, additional, Walsh, Mike, additional, Zou, Fanggeng, additional, Chai, High Seng, additional, Younkin, Curtis, additional, Siuda, Joanna, additional, Burgess, Jeremy, additional, Crook, Julia, additional, Pancratz, V. Shane, additional, Carrasquillo, Minerva M., additional, Nair, Asha, additional, Middha, Sumit, additional, Maharjan, Sooraj, additional, Nguyen, Thuy, additional, Ma, Li, additional, Malphrus, Kimberly, additional, Lincoln, Sarah, additional, Bisceglio, Gina, additional, Ordog, Tamas, additional, Petersen, Ronald Carl, additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Younkin, Steven, additional, Asmann, Yan, additional, and Ertekin-Taner, Nilufer, additional

Published
2014
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187. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Author

Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A., Harold, Denise, Naj, Adam C., Sims, Rebecca, Bellenguez, Celine, Jun, Gyungah, DeStefano, Anita L., Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Jones, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Gerrish, Amy, Schmidt, Helena, Kunkle, Brian, Dunstan, Melanie L., Ruiz, Agustin, Bihoreau, Marie-Therese, Choi, Seung-Hoan, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Ramirez, Alfredo, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Baldwin, Clinton, Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letenneur, Luc, Moron, Francisco J., Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Green, Robert, Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Rogaeva, Ekaterina, Gallacher, John, St George-Hyslop, Peter, Clarimon, Jordi, Lleo, Alberto, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petroula, Collinge, John, Sorbi, Sandro, Sanchez-Garcia, Florentino, Fox, Nick C., Hardy, John, Naranjo, Maria Candida Deniz, Bosco, Paolo, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Mancuso, Michelangelo, Matthews, Fiona, Moebus, Susanne, Mecocci, Patrizia, Del Zompo, Maria, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Bullido, Maria, Panza, Francesco, Caffarra, Paolo, Nacmias, Benedetta, Gilbert, John R., Mayhaus, Manuel, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alvarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Gu, Wei, Razquin, Cristina, Pastor, Pau, Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H., Jr., Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nalls, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Schmidt, Reinhold, Rujescu, Dan, Wang, Li-San, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Noethen, Markus M., Graff, Caroline, Psaty, Bruce M., Jones, Lesley, Haines, Jonathan L., Holmans, Peter A., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Farrer, Lindsay A., van Duijn, Cornelia M., Van Broeckhoven, Christine, Moskvina, Valentina, Seshadri, Sudha, Williams, Julie, Schellenberg, Gerard D., Amouyel, Philippe, Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A., Harold, Denise, Naj, Adam C., Sims, Rebecca, Bellenguez, Celine, Jun, Gyungah, DeStefano, Anita L., Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Jones, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Gerrish, Amy, Schmidt, Helena, Kunkle, Brian, Dunstan, Melanie L., Ruiz, Agustin, Bihoreau, Marie-Therese, Choi, Seung-Hoan, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Ramirez, Alfredo, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K., Baldwin, Clinton, Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letenneur, Luc, Moron, Francisco J., Rubinsztein, David C., Eiriksdottir, Gudny, Sleegers, Kristel, Goate, Alison M., Fievet, Nathalie, Huentelman, Matthew J., Gill, Michael, Brown, Kristelle, Kamboh, M. Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B., Green, Robert, Myers, Amanda J., Dufouil, Carole, Todd, Stephen, Wallon, David, Love, Seth, Rogaeva, Ekaterina, Gallacher, John, St George-Hyslop, Peter, Clarimon, Jordi, Lleo, Alberto, Bayer, Anthony, Tsuang, Debby W., Yu, Lei, Tsolaki, Magda, Bossu, Paola, Spalletta, Gianfranco, Proitsi, Petroula, Collinge, John, Sorbi, Sandro, Sanchez-Garcia, Florentino, Fox, Nick C., Hardy, John, Naranjo, Maria Candida Deniz, Bosco, Paolo, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Mancuso, Michelangelo, Matthews, Fiona, Moebus, Susanne, Mecocci, Patrizia, Del Zompo, Maria, Maier, Wolfgang, Hampel, Harald, Pilotto, Alberto, Bullido, Maria, Panza, Francesco, Caffarra, Paolo, Nacmias, Benedetta, Gilbert, John R., Mayhaus, Manuel, Lannfelt, Lars, Hakonarson, Hakon, Pichler, Sabrina, Carrasquillo, Minerva M., Ingelsson, Martin, Beekly, Duane, Alvarez, Victoria, Zou, Fanggeng, Valladares, Otto, Younkin, Steven G., Coto, Eliecer, Hamilton-Nelson, Kara L., Gu, Wei, Razquin, Cristina, Pastor, Pau, Mateo, Ignacio, Owen, Michael J., Faber, Kelley M., Jonsson, Palmi V., Combarros, Onofre, O'Donovan, Michael C., Cantwell, Laura B., Soininen, Hilkka, Blacker, Deborah, Mead, Simon, Mosley, Thomas H., Jr., Bennett, David A., Harris, Tamara B., Fratiglioni, Laura, Holmes, Clive, de Bruijn, Renee F. A. G., Passmore, Peter, Montine, Thomas J., Bettens, Karolien, Rotter, Jerome I., Brice, Alexis, Morgan, Kevin, Foroud, Tatiana M., Kukull, Walter A., Hannequin, Didier, Powell, John F., Nalls, Michael A., Ritchie, Karen, Lunetta, Kathryn L., Kauwe, John S. K., Boerwinkle, Eric, Riemenschneider, Matthias, Boada, Merce, Hiltunen, Mikko, Martin, Eden R., Schmidt, Reinhold, Rujescu, Dan, Wang, Li-San, Dartigues, Jean-Francois, Mayeux, Richard, Tzourio, Christophe, Hofman, Albert, Noethen, Markus M., Graff, Caroline, Psaty, Bruce M., Jones, Lesley, Haines, Jonathan L., Holmans, Peter A., Lathrop, Mark, Pericak-Vance, Margaret A., Launer, Lenore J., Farrer, Lindsay A., van Duijn, Cornelia M., Van Broeckhoven, Christine, Moskvina, Valentina, Seshadri, Sudha, Williams, Julie, Schellenberg, Gerard D., and Amouyel, Philippe

Abstract

Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 x 10(-8)) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.

Published
2013
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188. The Future Role of Biomarkers in Alzheimer’s Disease Diagnostics

Author

Morgan, Kevin, Carrasquillo, Minerva M., Richens, Joanna L., Vafadar-Isfahani, Bharak, Vere, Kelly Ann, Ball, Graham, Kalsheker, Noor, Rees, Robert, Bajaj, Nin, O'Shea, Paul, Morgan, Kevin, Carrasquillo, Minerva M., Richens, Joanna L., Vafadar-Isfahani, Bharak, Vere, Kelly Ann, Ball, Graham, Kalsheker, Noor, Rees, Robert, Bajaj, Nin, and O'Shea, Paul

Abstract

Diagnosis of Alzheimer's disease can be confirmed presently only upon post-mortem examination of amyloid plaques and neurofibrillary tangles in brain tissue. Developments in diagnostic imaging tools including MRI, PET and SPECT scans are enabling greater insight into these pathologies but these techniques are insufficient for disease stratification or early diagnosis and ideally would be employed alongside diagnostics tests for biochemical biomarkers of disease. Attempts to identify biomarkers for Alzheimer's disease have centred on the beta amyloid and tau pathologies characteristic of disease, but advances in genomic and proteomic technologies are facilitating a more complete approach to biomarker discovery. Here we discuss the impact such technologies could potentially achieve in Alzheimer's disease diagnostics.

Published
2013

189. Novel late-onset Alzheimer disease loci variants associate with brain gene expression.

Author

Allen, Mariet, Allen, Mariet, Zou, Fanggeng, Chai, High Seng, Younkin, Curtis S, Crook, Julia, Pankratz, V Shane, Carrasquillo, Minerva M, Rowley, Christopher N, Nair, Asha A, Middha, Sumit, Maharjan, Sooraj, Nguyen, Thuy, Ma, Li, Malphrus, Kimberly G, Palusak, Ryan, Lincoln, Sarah, Bisceglio, Gina, Georgescu, Constantin, Schultz, Debra, Rakhshan, Fariborz, Kolbert, Christopher P, Jen, Jin, Haines, Jonathan L, Mayeux, Richard, Pericak-Vance, Margaret A, Farrer, Lindsay A, Schellenberg, Gerard D, Petersen, Ronald C, Graff-Radford, Neill R, Dickson, Dennis W, Younkin, Steven G, Ertekin-Taner, Nilüfer, Alzheimer's Disease Genetics Consortium (ADGC), Apostolova, Liana G, Arnold, Steven E, Baldwin, Clinton T, Barber, Robert, Barmada, Michael M, Beach, Thomas, Beecham, Gary W, Beekly, Duane, Bennett, David A, Bigio, Eileen H, Bird, Thomas D, Blacker, Deborah, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Burke, James R, Buros, Jacqueline, Buxbaum, Joseph D, Cairns, Nigel J, Cantwell, Laura B, Cao, Chuanhai, Carlson, Chris S, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cotman, Carl W, Crane, Paul K, Cruchaga, Carlos, Cummings, Jeffrey L, De Jager, Philip L, DeCarli, Charles, DeKosky, Steven T, Demirci, F Yesim, Diaz-Arrastia, Ramon, Dick, Malcolm, Dombroski, Beth A, Duara, Ranjan, Ellis, William D, Evans, Denis, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Foroud, Tatiana M, Frosch, Matthew, Galasko, Douglas R, Gallins, Paul J, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Gilman, Sid, Giordani, Bruno, Glass, Jonathan D, Goate, Alison M, Green, Robert C, Growdon, John H, Hakonarson, Hakon, Hamilton, Ronald L, Hardy, John, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, Huentelman, Matthew J, Allen, Mariet, Allen, Mariet, Zou, Fanggeng, Chai, High Seng, Younkin, Curtis S, Crook, Julia, Pankratz, V Shane, Carrasquillo, Minerva M, Rowley, Christopher N, Nair, Asha A, Middha, Sumit, Maharjan, Sooraj, Nguyen, Thuy, Ma, Li, Malphrus, Kimberly G, Palusak, Ryan, Lincoln, Sarah, Bisceglio, Gina, Georgescu, Constantin, Schultz, Debra, Rakhshan, Fariborz, Kolbert, Christopher P, Jen, Jin, Haines, Jonathan L, Mayeux, Richard, Pericak-Vance, Margaret A, Farrer, Lindsay A, Schellenberg, Gerard D, Petersen, Ronald C, Graff-Radford, Neill R, Dickson, Dennis W, Younkin, Steven G, Ertekin-Taner, Nilüfer, Alzheimer's Disease Genetics Consortium (ADGC), Apostolova, Liana G, Arnold, Steven E, Baldwin, Clinton T, Barber, Robert, Barmada, Michael M, Beach, Thomas, Beecham, Gary W, Beekly, Duane, Bennett, David A, Bigio, Eileen H, Bird, Thomas D, Blacker, Deborah, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Burke, James R, Buros, Jacqueline, Buxbaum, Joseph D, Cairns, Nigel J, Cantwell, Laura B, Cao, Chuanhai, Carlson, Chris S, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cotman, Carl W, Crane, Paul K, Cruchaga, Carlos, Cummings, Jeffrey L, De Jager, Philip L, DeCarli, Charles, DeKosky, Steven T, Demirci, F Yesim, Diaz-Arrastia, Ramon, Dick, Malcolm, Dombroski, Beth A, Duara, Ranjan, Ellis, William D, Evans, Denis, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Foroud, Tatiana M, Frosch, Matthew, Galasko, Douglas R, Gallins, Paul J, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Gilman, Sid, Giordani, Bruno, Glass, Jonathan D, Goate, Alison M, Green, Robert C, Growdon, John H, Hakonarson, Hakon, Hamilton, Ronald L, Hardy, John, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, and Huentelman, Matthew J

Abstract

ObjectiveRecent genome-wide association studies (GWAS) of late-onset Alzheimer disease (LOAD) identified 9 novel risk loci. Discovery of functional variants within genes at these loci is required to confirm their role in Alzheimer disease (AD). Single nucleotide polymorphisms that influence gene expression (eSNPs) constitute an important class of functional variants. We therefore investigated the influence of the novel LOAD risk loci on human brain gene expression.MethodsWe measured gene expression levels in the cerebellum and temporal cortex of autopsied AD subjects and those with other brain pathologies (∼400 total subjects). To determine whether any of the novel LOAD risk variants are eSNPs, we tested their cis-association with expression of 6 nearby LOAD candidate genes detectable in human brain (ABCA7, BIN1, CLU, MS4A4A, MS4A6A, PICALM) and an additional 13 genes ±100 kb of these SNPs. To identify additional eSNPs that influence brain gene expression levels of the novel candidate LOAD genes, we identified SNPs ±100 kb of their location and tested for cis-associations.ResultsCLU rs11136000 (p = 7.81 × 10(-4)) and MS4A4A rs2304933/rs2304935 (p = 1.48 × 10(-4)-1.86 × 10(-4)) significantly influence temporal cortex expression levels of these genes. The LOAD-protective CLU and risky MS4A4A locus alleles associate with higher brain levels of these genes. There are other cis-variants that significantly influence brain expression of CLU and ABCA7 (p = 4.01 × 10(-5)-9.09 × 10(-9)), some of which also associate with AD risk (p = 2.64 × 10(-2)-6.25 × 10(-5)).ConclusionsCLU and MS4A4A eSNPs may at least partly explain the LOAD risk association at these loci. CLU and ABCA7 may harbor additional strong eSNPs. These results have implications in the search for functional variants at the novel LOAD risk loci.

Published
2012

190. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Author

Naj, Adam C, Naj, Adam C, Jun, Gyungah, Beecham, Gary W, Wang, Li-San, Vardarajan, Badri Narayan, Buros, Jacqueline, Gallins, Paul J, Buxbaum, Joseph D, Jarvik, Gail P, Crane, Paul K, Larson, Eric B, Bird, Thomas D, Boeve, Bradley F, Graff-Radford, Neill R, De Jager, Philip L, Evans, Denis, Schneider, Julie A, Carrasquillo, Minerva M, Ertekin-Taner, Nilufer, Younkin, Steven G, Cruchaga, Carlos, Kauwe, John SK, Nowotny, Petra, Kramer, Patricia, Hardy, John, Huentelman, Matthew J, Myers, Amanda J, Barmada, Michael M, Demirci, F Yesim, Baldwin, Clinton T, Green, Robert C, Rogaeva, Ekaterina, St George-Hyslop, Peter, Arnold, Steven E, Barber, Robert, Beach, Thomas, Bigio, Eileen H, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Carlson, Chris S, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cotman, Carl W, Cummings, Jeffrey L, DeCarli, Charles, DeKosky, Steven T, Diaz-Arrastia, Ramon, Dick, Malcolm, Dickson, Dennis W, Ellis, William G, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Gilman, Sid, Giordani, Bruno, Glass, Jonathan D, Growdon, John H, Hamilton, Ronald L, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, Hulette, Christine M, Hyman, Bradley T, Jicha, Gregory A, Jin, Lee-Way, Johnson, Nancy, Karlawish, Jason, Karydas, Anna, Kaye, Jeffrey A, Kim, Ronald, Koo, Edward H, Kowall, Neil W, Lah, James J, Levey, Allan I, Lieberman, Andrew P, Lopez, Oscar L, Mack, Wendy J, Marson, Daniel C, Martiniuk, Frank, Mash, Deborah C, Masliah, Eliezer, McCormick, Wayne C, McCurry, Susan M, McDavid, Andrew N, McKee, Ann C, Mesulam, Marsel, Miller, Bruce L, Naj, Adam C, Naj, Adam C, Jun, Gyungah, Beecham, Gary W, Wang, Li-San, Vardarajan, Badri Narayan, Buros, Jacqueline, Gallins, Paul J, Buxbaum, Joseph D, Jarvik, Gail P, Crane, Paul K, Larson, Eric B, Bird, Thomas D, Boeve, Bradley F, Graff-Radford, Neill R, De Jager, Philip L, Evans, Denis, Schneider, Julie A, Carrasquillo, Minerva M, Ertekin-Taner, Nilufer, Younkin, Steven G, Cruchaga, Carlos, Kauwe, John SK, Nowotny, Petra, Kramer, Patricia, Hardy, John, Huentelman, Matthew J, Myers, Amanda J, Barmada, Michael M, Demirci, F Yesim, Baldwin, Clinton T, Green, Robert C, Rogaeva, Ekaterina, St George-Hyslop, Peter, Arnold, Steven E, Barber, Robert, Beach, Thomas, Bigio, Eileen H, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Carlson, Chris S, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cotman, Carl W, Cummings, Jeffrey L, DeCarli, Charles, DeKosky, Steven T, Diaz-Arrastia, Ramon, Dick, Malcolm, Dickson, Dennis W, Ellis, William G, Faber, Kelley M, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Ganguli, Mary, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Gilman, Sid, Giordani, Bruno, Glass, Jonathan D, Growdon, John H, Hamilton, Ronald L, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, Hulette, Christine M, Hyman, Bradley T, Jicha, Gregory A, Jin, Lee-Way, Johnson, Nancy, Karlawish, Jason, Karydas, Anna, Kaye, Jeffrey A, Kim, Ronald, Koo, Edward H, Kowall, Neil W, Lah, James J, Levey, Allan I, Lieberman, Andrew P, Lopez, Oscar L, Mack, Wendy J, Marson, Daniel C, Martiniuk, Frank, Mash, Deborah C, Masliah, Eliezer, McCormick, Wayne C, McCurry, Susan M, McDavid, Andrew N, McKee, Ann C, Mesulam, Marsel, and Miller, Bruce L

Abstract

The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and 3, P(M) = 6.0 × 10(-10)) and CD33 (rs3865444; stages 1, 2 and 3, P(M) = 1.6 × 10(-9)). We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.

Published
2011

191. CONVERGENT ANALYSIS OF ENDOPHENOTYPES IN PROGRESSIVE SUPRANUCLEAR PALSY

Author

Allen, Mariet, Wang, Xue, Younkin, Curtis S., Serie, Daniel, Sun, Zhifu, Burgess, Jeremy D., Baheti, Saurabh, Kouri, Naomi, Nguyen, Thuy, Lincoln, Sarah, Malphrus, Kimberly G., Carrasquillo, Minerva M., Zou, Fanggeng, Chai, High-Seng, Murray, Melissa E., Schellenberg, Gerard D., Younkin, Steven G., Crook, Julia E., Ordog, Tamas, Asmann, Yan W., Dickson, Dennis W., and Ertekin-Taner, Nilufer

Published
2016
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194. BLOOD GENE EXPRESSION CHANGES IMPLICATED IN ALZHEIMER’S DISEASE

Author

Allen, Mariet, Wang, Xue, Burgess, Jeremy D., Nguyen, Thuy, Malphrus, Kimberly G., Nho, Kwangsik, Serie, Daniel, Strickland, Samantha L., Lincoln, Sarah, Carrasquillo, Minerva M., Crook, Julia E., Schellenberg, Gerard D., Knopman, David S., Saykin, Andrew J., Lowe, Val J., Jack, Clifford R., Jr., Younkin, Steven G., Asmann, Yan W., Petersen, Ronald C., and Ertekin-Taner, Nilufer

Published
2016
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195. A REGULATORY VARIANT AT THE TREM GENE CLUSTER ASSOCIATES WITH DECREASED ALZHEIMER’S DISEASE RISK AND INCREASED TREML1 AND TREM2 BRAIN GENE EXPRESSION

Author

Carrasquillo, Minerva M., Allen, Mariet, Burgess, Jeremy D., Strickland, Samantha L., Aryal, Shivani, Siuda, Joanna, Kachadoorian, Michaela, Medway, Christopher, Younkin, Curtis S., Nair, Asha, Chanana, Pritha, Wang, Xue, Serie, Daniel, Nguyen, Thuy, Lincoln, Sarah, Malphrus, Kimberly G., Morgan, Kevin, Golde, Todd E., Price, Nathan D., White, Charles, de Jager, Philip, Bennett, David A., Asmann, Yan W., Crook, Julia E., Dickson, Dennis W., Younkin, Steven G., and Ertekin-Taner, Nilufer

Published
2016
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196. FROM SYSTEMS LEVEL TRANSCRIPTOMICS TO NEW IMMUNE TARGETS FOR ALZHEIMER’S DISEASE

Author

Golde, Todd E., Ertekin-Taner, Nilufer, Chakrabarty, Paramita, Allen, Mariet, Carrasquillo, Minerva M., Dickson, Dennis W., Younkin, Steven G., Levites, Yona, Price, Nathan D., Funk, Corey, Heavner, Benjamen D., Logsdon, Ben, Mangravite, Lara M., Li, Hong-Dong, Burgess, Jeremy D., Younkin, Curtis S., Petersen, Ronald C., Cruz, Pedro E., Ceballos-Diaz, Carolina, Rosario, Awilda M., Adamson, Jeniffer, Giasson, Benoit I., Graff-Radford, Neill R., Yachnis, Tony, Zou, Fanggeng, Eddy, James, Crook, Julia E., Wang, Xue, Chai, High-Seng, Serie, Daniel, Wang, Chen, Nguyen, Thuy, Lincoln, Sarah, Malphrus, Kimberly G., Bisceglio, Gina, Ma, Li, and Asmann, Yan W.

Published
2016
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197. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Author

Harold, Denise, primary, Abraham, Richard, additional, Hollingworth, Paul, additional, Sims, Rebecca, additional, Gerrish, Amy, additional, Hamshere, Marian L, additional, Pahwa, Jaspreet Singh, additional, Moskvina, Valentina, additional, Dowzell, Kimberley, additional, Williams, Amy, additional, Jones, Nicola, additional, Thomas, Charlene, additional, Stretton, Alexandra, additional, Morgan, Angharad R, additional, Lovestone, Simon, additional, Powell, John, additional, Proitsi, Petroula, additional, Lupton, Michelle K, additional, Brayne, Carol, additional, Rubinsztein, David C, additional, Gill, Michael, additional, Lawlor, Brian, additional, Lynch, Aoibhinn, additional, Morgan, Kevin, additional, Brown, Kristelle S, additional, Passmore, Peter A, additional, Craig, David, additional, McGuinness, Bernadette, additional, Todd, Stephen, additional, Holmes, Clive, additional, Mann, David, additional, Smith, A David, additional, Love, Seth, additional, Kehoe, Patrick G, additional, Hardy, John, additional, Mead, Simon, additional, Fox, Nick, additional, Rossor, Martin, additional, Collinge, John, additional, Maier, Wolfgang, additional, Jessen, Frank, additional, Schürmann, Britta, additional, Heun, Reinhard, additional, van den Bussche, Hendrik, additional, Heuser, Isabella, additional, Kornhuber, Johannes, additional, Wiltfang, Jens, additional, Dichgans, Martin, additional, Frölich, Lutz, additional, Hampel, Harald, additional, Hüll, Michael, additional, Rujescu, Dan, additional, Goate, Alison M, additional, Kauwe, John S K, additional, Cruchaga, Carlos, additional, Nowotny, Petra, additional, Morris, John C, additional, Mayo, Kevin, additional, Sleegers, Kristel, additional, Bettens, Karolien, additional, Engelborghs, Sebastiaan, additional, De Deyn, Peter P, additional, Van Broeckhoven, Christine, additional, Livingston, Gill, additional, Bass, Nicholas J, additional, Gurling, Hugh, additional, McQuillin, Andrew, additional, Gwilliam, Rhian, additional, Deloukas, Panagiotis, additional, Al-Chalabi, Ammar, additional, Shaw, Christopher E, additional, Tsolaki, Magda, additional, Singleton, Andrew B, additional, Guerreiro, Rita, additional, Mühleisen, Thomas W, additional, Nöthen, Markus M, additional, Moebus, Susanne, additional, Jöckel, Karl-Heinz, additional, Klopp, Norman, additional, Wichmann, H-Erich, additional, Carrasquillo, Minerva M, additional, Pankratz, V Shane, additional, Younkin, Steven G, additional, Holmans, Peter A, additional, O'Donovan, Michael, additional, Owen, Michael J, additional, and Williams, Julie, additional

Published
2013
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198. Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

Author

Schott, Jonathan M., Crutch, Sebastian J., Carrasquillo, Minerva M., Uphill, James, Shakespeare, Tim J., Ryan, Natalie S., Yong, Keir X., Lehmann, Manja, Ertekin-Taner, Nilufer, Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Khan, Qurat ul Ain, Petersen, Ronald C., Dickson, Dennis W., Knopman, David S., Rabinovici, Gil D., Miller, Bruce L., González, Aida Suárez, and Gil-Néciga, Eulogio

Abstract

Introduction The genetics underlying posterior cortical atrophy (PCA), typically a rare variant of Alzheimer's disease (AD), remain uncertain. Methods We genotyped 302 PCA patients from 11 centers, calculated risk at 24 loci for AD/DLB and performed an exploratory genome-wide association study. Results We confirm that variation in/near APOE/TOMM40 ( P = 6 × 10 −14 ) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). We found evidence for risk in/near CR1 ( P = 7 × 10 −4 ), ABCA7 ( P = .02) and BIN1 ( P = .04). ORs at variants near INPP5D and NME8 did not overlap between PCA and typical AD. Exploratory genome-wide association studies confirmed APOE and identified three novel loci: rs76854344 near CNTNAP5 ( P = 8 × 10 −10 OR = 1.9 [1.5–2.3]); rs72907046 near FAM46A ( P = 1 × 10 −9 OR = 3.2 [2.1–4.9]); and rs2525776 near SEMA3C ( P = 1 × 10 −8 , OR = 3.3 [2.1–5.1]). Discussion We provide evidence for genetic risk factors specifically related to PCA. We identify three candidate loci that, if replicated, may provide insights into selective vulnerability and phenotypic diversity in AD. [ABSTRACT FROM AUTHOR]

Published
2016
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200. The Role of Variation at AβPP, PSEN1, PSEN2, and MAPT in Late Onset Alzheimer's Disease

Author

Gerrish, Amy, primary, Russo, Giancarlo, additional, Richards, Alexander, additional, Moskvina, Valentina, additional, Ivanov, Dobril, additional, Harold, Denise, additional, Sims, Rebecca, additional, Abraham, Richard, additional, Hollingworth, Paul, additional, Chapman, Jade, additional, Hamshere, Marian, additional, Pahwa, Jaspreet Singh, additional, Dowzell, Kimberley, additional, Williams, Amy, additional, Jones, Nicola, additional, Thomas, Charlene, additional, Stretton, Alexandra, additional, Morgan, Angharad R., additional, Lovestone, Simon, additional, Powell, John, additional, Proitsi, Petroula, additional, Lupton, Michelle K., additional, Brayne, Carol, additional, Rubinsztein, David C., additional, Gill, Michael, additional, Lawlor, Brian, additional, Lynch, Aoibhinn, additional, Morgan, Kevin, additional, Brown, Kristelle S., additional, Passmore, Peter A., additional, Craig, David, additional, McGuinness, Bernadette, additional, Todd, Stephen, additional, Johnston, Janet A., additional, Holmes, Clive, additional, Mann, David, additional, Smith, A. David, additional, Love, Seth, additional, Kehoe, Patrick G., additional, Hardy, John, additional, Mead, Simon, additional, Fox, Nick, additional, Rossor, Martin, additional, Collinge, John, additional, Maier, Wolfgang, additional, Jessen, Frank, additional, Kölsch, Heike, additional, Heun, Reinhard, additional, Schürmann, Britta, additional, Bussche, Hendrik van den, additional, Heuser, Isabella, additional, Kornhuber, Johannes, additional, Wiltfang, Jens, additional, Dichgans, Martin, additional, Frölich, Lutz, additional, Hampel, Harald, additional, Hüll, Michael, additional, Rujescu, Dan, additional, Goate, Alison M., additional, Kauwe, John S. K, additional, Cruchaga, Carlos, additional, Nowotny, Petra, additional, Morris, John C., additional, Mayo, Kevin, additional, Livingston, Gill, additional, Bass, Nicholas J., additional, Gurling, Hugh, additional, McQuillin, Andrew, additional, Gwilliam, Rhian, additional, Deloukas, Panagiotis, additional, Davies, Gail, additional, Harris, Sarah E., additional, Starr, John M., additional, Deary, Ian J., additional, Al-Chalabi, Ammar, additional, Shaw, Christopher E., additional, Tsolaki, Magda, additional, Singleton, Andrew B., additional, Guerreiro, Rita, additional, Mühleisen, Thomas W., additional, Nöthen, Markus M., additional, Moebus, Susanne, additional, Jöckel, Karl-Heinz, additional, Klopp, Norman, additional, Wichmann, H-Erich, additional, Carrasquillo, Minerva M, additional, Pankratz, V Shane, additional, Younkin, Steven G., additional, Jones, Lesley, additional, Holmans, Peter A, additional, O'Donovan, Michael C., additional, Owen, Michael J., additional, and Williams, Julie, additional

Published
2012
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