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1. Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States

Author

Wang, Li-San, Naj, Adam C, Graham, Robert R, Crane, Paul K, Kunkle, Brian W, Cruchaga, Carlos, Murcia, Josue D. Gonzalez, Cannon-Albright, Lisa, Baldwin, Clinton T, Zetterberg, Henrik, Blennow, Kaj, Kukull, Walter A, Faber, Kelley M, Schupf, Nicole, Norton, Maria C, Tschanz, JoAnn T, Munger, Ronald G, Corcoran, Christopher D, Rogaeva, Ekaterina, Lin, Chiao-Feng, Dombroski, Beth A, Cantwell, Laura B, Partch, Amanda, Valladares, Otto, Hakonarson, Hakon, St George-Hyslop, Peter, Green, Robert C, Goate, Alison M, Foroud, Tatiana M, Carney, Regina M, Larson, Eric B, Behrens, Timothy W, Kauwe, John S. K, Haines, Jonathan L, Farrer, Lindsay A, Pericak-Vance, Margaret A, Mayeux, Richard, Schellenberg, Gerard D, Albert, Marilyn S, Albin, Roger L, Apostolova, Liana G, Arnold, Steven E, Barber, Robert, Barmada, M. Michael, Barnes, Lisa L, Beach, Thomas G, Becker, James T, 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, Buxbaum, Joseph D, Cairns, Nigel J, Cao, Chuanhai, Carlson, Chris S, Carroll, Steven L, Chui, Helena C, Clark, David G, Cribbs, David H, Crocco, Elizabeth A, DeCarli, Charles, DeKosky, Steven T, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W, Duara, Ranjan, Ertekin-Taner, Nilufer, 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, Graff-Radford, Neill R, Growdon, John H, Hamilton, Ronald L, Hamilton-Nelson, Kara L, Harrell, Lindy E, Head, Elizabeth, Honig, Lawrence S, Hulette, Christine M, Hyman, Bradley T, Jarvik, Gail P, Jicha, Gregory A, Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, and Kaye, Jeffrey A

Published
2015

2. ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

Author

Nelson, Peter T, Estus, Steven, Abner, Erin L, Parikh, Ishita, Malik, Manasi, Neltner, Janna H, Ighodaro, Eseosa, Wang, Wang-Xia, Wilfred, Bernard R, Wang, Li-San, Kukull, Walter A, Nandakumar, Kannabiran, Farman, Mark L, Poon, Wayne W, Corrada, Maria M, Kawas, Claudia H, Cribbs, David H, Bennett, David A, Schneider, Julie A, Larson, Eric B, Crane, Paul K, Valladares, Otto, Schmitt, Frederick A, Kryscio, Richard J, Jicha, Gregory A, Smith, Charles D, Scheff, Stephen W, Sonnen, Joshua A, Haines, Jonathan L, Pericak-Vance, Margaret A, Mayeux, Richard, Farrer, Lindsay A, Van Eldik, Linda J, Horbinski, Craig, Green, Robert C, Gearing, Marla, Poon, Leonard W, Kramer, Patricia L, Woltjer, Randall L, Montine, Thomas J, Partch, Amanda B, Rajic, Alexander J, Richmire, KatieRose, Monsell, Sarah E, Alzheimer’ Disease Genetic Consortium, Schellenberg, Gerard D, and Fardo, David W

Subjects
Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, Aging, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Genetics, Alzheimer's Disease, Dementia, Human Genome, Prevention, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Neurological, Good Health and Well Being, Aged, 80 and over, Cohort Studies, Databases as Topic, Endophenotypes, Genome-Wide Association Study, Hippocampus, Humans, Polymorphism, Single Nucleotide, Sclerosis, Sulfonylurea Compounds, Sulfonylurea Receptors, Oldest old, Neuropathology, KATP, CTAGE5, ADGC, Potassium channel, Alzheimer’ Disease Genetic Consortium, Clinical Sciences, Neurology & Neurosurgery
Abstract

Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer's Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer's Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer's Disease Center. Altogether, 363 HS-Aging cases and 2,303 controls, all pathologically confirmed, provided statistical power to test for risk alleles with large effect size. A two-tier study design included GWAS from cohorts #1-3 (Stage I) to identify promising SNP candidates, followed by focused evaluation of particular SNPs in cohorts #4-5 (Stage II). Polymorphism in the ATP-binding cassette, sub-family C member 9 (ABCC9) gene, also known as sulfonylurea receptor 2, was associated with HS-Aging pathology. In the meta-analyzed Stage I GWAS, ABCC9 polymorphisms yielded the lowest p values, and factoring in the Stage II results, the meta-analyzed risk SNP (rs704178:G) attained genome-wide statistical significance (p = 1.4 × 10(-9)), with odds ratio (OR) of 2.13 (recessive mode of inheritance). For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described. Sulfonylureas, a widely prescribed drug class used to treat diabetes, also modify human ABCC9 protein function. A subsample of patients from the NACC database (n = 624) were identified who were older than age 85 at death with known drug history. Controlling for important confounders such as diabetes itself, exposure to a sulfonylurea drug was associated with risk for HS-Aging pathology (p = 0.03). Thus, we describe a novel and targetable dementia risk factor.

Published
2014

3. Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Author

Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Barmada, Michjael M., Barnes, Lisa L., Beach, Thomas G., Becker, James T., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, DeKosky, Steven T., Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hardy, John, Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lopez, Oscar L., Lyketsos, Constantine G., 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., Miller, Carol A., Miller, Joshua W., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Yu, Chang-En, Yu, Lei, Zhang, Xiaoling, Jun, Gyungah R., Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W., Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Crane, Paul K., De Jager, Philip, Evans, Denis, Fallin, M. Danielle, Foroud, Tatiana M., Friedland, Robert P., Goate, Alison M., Hendrie, Hugh, Hall, Kathleen S., Hamilton-Nelson, Kara L., Inzelberg, Rivka, Kamboh, M. Ilyas, Kukull, Walter A., Kunkle, Brian W., Kuwano, Ryozo, Larson, Eric B., Logue, Mark W., Manly, Jennifer J., Martin, Eden R., Montine, Thomas J., Naj, Adam, Reiman, Eric M., Sherva, Richard, St. George-Hyslop, Peter H., Thornton, Timothy, Younkin, Steven G., Wang, Li-San, Wendlund, Jens R., Winslow, Ashley R., Haines, Jonathan, Mayeux, Richard, Pericak-Vance, Margaret A., Schellenberg, Gerard, Lunetta, Kathryn L., and Farrer, Lindsay A.

Published
2017
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4. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author

Chauhan, Ganesh, Adams, Hieab H.H., Satizabal, Claudia L., Bis, Joshua C., Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W., Montine, Thomas J., Schellenberg, Gerard D., Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S., Griswold, Michael E., Windham, B. Gwen, Gottesman, Rebecca F., Mosley, Thomas H., Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B., Aggarwal, Neelum T., De Jager, Philip L., Evans, Denis A., Psaty, Bruce M., Rotter, Jerome I., Rice, Kenneth, Lopez, Oscar L., Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y., Ikram, Mohammad K., van der Lee, Sven J., Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L., Aparicio, Hugo J., Romero, Jose R., Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M., Hernández, Maria del C. Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J., Starr, John M., Bastin, Mark E., Muñoz Maniega, Susana, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J., Ames, David, Boncoraglio, Giorgio B., Hopewell, Jemma C., Beecham, Ashley H., Blanton, Susan H., Wright, Clinton B., Sacco, Ralph L., Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J., Chong, Elizabeth, Schofield, Peter R., Kwok, John B., van der Grond, Jeroen, Stott, David J., Ford, Ian, Jukema, J. Wouter, Vernooij, Meike W., Hofman, Albert, Uitterlinden, André G., van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J., Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie L.M., Rosand, Jonathan, Woo, Daniel, Cole, John W., Meschia, James F., Slowik, Agnieszka, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Rundek, Tatjana, Rexrode, Kathy, Rothwell, Peter M., Arnett, Donna K., Jern, Christina, Johnson, Julie A., Benavente, Oscar R., Wasssertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Mitchell, Braxton D., Rich, Stephen S., McArdle, Patrick F., Geerlings, Mirjam I., van der Graaf, Yolanda, de Bakker, Paul I.W., Asselbergs, Folkert W., Srikanth, Velandai, Thomson, Russell, McWhirter, Rebekah, Moran, Chris, Callisaya, Michele, Phan, Thanh, Rutten-Jacobs, Loes C.A., Bevan, Steve, Tzourio, Christophe, Mather, Karen A., Sachdev, Perminder S., van Duijn, Cornelia M., Worrall, Bradford B., Dichgans, Martin, Kittner, Steven J., Markus, Hugh S., Ikram, Mohammad A., Fornage, Myriam, Launer, Lenore J., Seshadri, Sudha, Longstreth, W.T., Jr, Debette, Stéphanie, Almgren, Peter, Anderson, Christopher D., Arnett, Donna K., Attia, John, Ay, Hakan, Benavente, Oscar R., Bevan, Steve, Brown, Robert D., Bustamante, Mariana, Cheng, Yu-Ching, Cole, John W., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul IW., Delavaran, Hossein, Dichgans, Martin, Engström, Gunnar, Fornage, Myriam, Grewal, Raji P., Heitsch, Laura, Holliday, Elizabeth, Ibanez, Laure, Ilinca, Andreea, Irvin, Marguerite R., Jackson, Rebecca D., Jern, Christina, Jimenez-Conde, Jordi, Johnson, Julie A., Jood, Katarina, Kissela, Brett M., Kittner, Steven J., Kleindorfer, Dawn O., Labovitz, Daniel, Laurie, Cathy C., Lee, Jin-Moo, Lemmens, Robin, Levi, Christopher, Li, Linxin, Lindgren, Arne G., Maguire, Jane, Markus, Hugh S., McArdle, Patrick F., Melander, Olle, Meschia, James F., Mitchell, Braxton D., Müller-Nurasyid, Martina, Norrving, Bo, Peddareddygari, Leema Reddy, Pera, Joanna, Pulit, Sara L., Rexrode, Kathryn, Ribasés, Marta, Roquer, Jaume, Rost, Natalia S., Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Soriano-Tárraga, Carolina, Stanne, Tara, Stauch, Konstantin, Stine, O C., Sudlow, Cathie LM., Thijs, Vincent N.S., Wasssertheil-Smoller, Sylvia, Weir, David, Williams, Stephen R., Wong, Quenna, Woo, Daniel, Worrall, Bradford B., Xu, Huichun, Seshadri, Sudha, Hyacinth, Hyacinth I, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Hansen, Bjorn, Norrving, Bo, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Sacco, Ralph, Sharma, Pankaj, Chung, Jong-Won, Kim, Gyeong-Moon, Lubitz, Steven, Bourcier, Romain, Howson, Joanna, Granata, Alessandra, Drazyk, Anna, Markus, Hugh, Wardlaw, Joanna, Mitchell, Braxton, Cole, John, Hopewell, Jemma, Walters, Robin, Turnbull, Iain, Worrall, Bradford, Bis, Josh, Reiner, Alex, Dhar, Raj, Heitsch, Laura, Lee, Jin-Moo, Prasad, Kameshwar, Sarnowski, Chloé, Aparicio, Hugo Javier, Yang, Qiong, Chasman, Daniel, Rexrode, Kathryn, Phuah, Chia-Ling, Liu, Guiyou, Elkind, Mitchell, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Vojinovic, Dina, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Grond-Ginsbach, Caspar, Strbian, Daniel, Tomppo, Liisa, Sallinen, Hanne, Pfeiffer, Dorothea, Torres, Nuria, Barboza, Miguel, Laarman, Melanie, Carriero, Roberta, Holliday, Elizabeth, Jimenez-Conde, Jordi, Soriano, Carolina, Gill, Dipender, Debette, Stephanie, Mishra, Aniket, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Holmegaard, Lukas, Yue, Suo, bersano, Anna, Pera, Joanna, Slowik, Agnieszka, Levi, Christopher, Schlicht, Kristina, Lemmens, Robin, Ninomiya, Toshiharu, Oberstein, Saskia Lesnik, Lee, Tsong-Hai, Malik, Rainer, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Melander, Olle, Stenman, Martin, Ilinca, Andreea, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Cramer, Steve, Golland, Polina, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, Rundek, Tatjana, Gwinn, Katrina, Chen, Christopher, Koenig, Jim, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Kamatani, Yoichiro, Kubo, Michiaki, Okada, Yukinori, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Xu, Huichun, Tan, Eng King, Frid, Petrea, Lee, Chaeyoung, Tregouet, David, Leung, Thomas, Choy, Richard, Jern, Christina, Loo, Keat Wei, Rinkel, Gabriel, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Montaner, Joan, Kim, Helen, Owolabi, Mayowa, Sofat, Reecha, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., van der Laan, Sander W., Irvin, Ryan, Sargurupremraj, Murali, Pezzini, Alessandro, Abd-Allah, Foad, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Rutten-Jacobs, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Sudlow, Cathie, Rannikmae, Kristiina, McDonough, Caitrin Wheeler, van Agtmael, Tom, Walters, Matthew, Söderholm, Martin, Lorentzen, Erik, Olsson, Sandra, Stanne, Tara, Olsson, Martina, Akinyemi, Rufus, Cotlatciuc, Ioana, McArdle, Patrick, Dave, Tushar, Kittner, Steven, Attia, John, Faber, James E, Millwood, Iona, Márquez, Elsa Valdés, Mancuso, Michelangelo, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Majersik, Jennifer, DeHavenon, Adam, Alexander, Matthew, Sale, Michele, Southerland, Andrew, Owens, Debra, Psaty, Bruce, Longstreth, W. T., Jr, Wolfe, Stacey Quintero, Langefeld, Carl, Cruchaga, Carlos, Konrad, Jan, Sheth, Kevin, Falcone, Guido, Donahue, Kathleen, Simpkins, Alexis N, Liang Byorn, Tan Wei, Chan, Bernard, Clatworthy, Phil, Florez, Jose, Harshfield, Eric, Hozawa, Atsushi, Hsu, Chung, Hu, Chaur-Jong, Ibanez, Laure, Ihara, Masafumi, Lange, Marcos, Lee, Soo Ji, Lee, I-Hui, Musolino, Patricia, Nakatomi, Hirofumi, Park, Kwang-Yeol, Rich, Stephen S, Riley, Chris, Sung, Joohon, Suzuki, Hideaki, Vo, Katie, Washida, Kazuo, Ibenez, Laura Garcia, Slowik, Agnieszka, Hofman, Albert, Algra, Ale, Reiner, Alex P, Doney, Alexander S F, Gschwendtner, Andreas, Ilinca, Andreea, Giese, Anne-Katrin, Lindgren, Arne, Vicente, Astrid M, Norrving, Bo, Nordestgaard, Børge G, Mitchell, Braxton D, Worrall, Bradford B, Psaty, Bruce M, Carty, Cara L, Sudlow, Cathie, Anderson, Christopher D, Levi, Christopher, Satizabal, Claudia L, Palmer, Colin N A, Gamble, Dale M, Woo, Daniel, Saleheen, Danish, Ringelstein, E Bernd, Valdimarsson, Einar, Holliday, Elizabeth, Davies, Gail, Chauhan, Ganesh, Pasterkamp, Gerard, Boncoraglio, Giorgio, Kuhlenbäumer, Gregor, Thorleifsson, Gudmar, Falcone, Guido J, Pare, Guillame, Schmidt, Helena, Delavaran, Hossein, Markus, Hugh S, Aparicio, Hugo J, Deary, Ian, Cotlarciuc, Ioana, Fernandez-Cadenas, Israel, Meschia, James, Hopewell, Jemma C, Liu, Jingmin, Montaner, Joan, Pera, Joanna, Cole, John, Attia, John R, Rosand, Jonathan, Ferro, Jose M, Bis, Joshua, Furie, Karen, Stefansson, Kari, Berger, Klaus, Kostulas, Konstantinos, Rannikmae, Kristina, Ikram, M Arfan, Benn, Marianne, Dichgans, Martin, Farrall, Martin, Pandolfo, Massimo, Traylor, Matthew, Walters, Matthew, Sale, Michele, Nalls, Mike, Fornage, Myriam, van Zuydam, Natalie R, Sharma, Pankaj, Abrantes, Patricia, de Bakker, Paul IW, Higgins, Peter, Lichtner, Peter, Rothwell, Peter M, Amouyel, Philippe, Yang, Qiong, Malik, Rainer, Schmidt, Reinhold, Clarke, Robert, Lemmens, Robin, van der Laan, Sander W, Pulit, Sara L, Abboud, Sherine, Oliveira, Sofia A, Gretarsdottir, Solveig, Debette, Stephanie, Williams, Stephen R, Bevan, Steve, Kittner, Steven J, Seshadri, Sudha, Mosley, Thomas, Battey, Thomas WK, Tatlisumak, Turgut, Thorsteinsdottir, Unnur, Thijs, Vincent NS, Longstreth, W T, Zhao, Wei, Chen, Wei-Min, Cheng, Yu-Ching, Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barmada, M. Michael, Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Byrd, Goldie S., Cai, Guiqing, Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fallin, M. Daniele, Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Farrer, Lindsay A., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Go, Rodney C.P., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Griffith, Patrick, Growdon, John H., Haines, Jonathan L., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Haroutunian, Vahram, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Hulette, Christine M., Hyman, Bradley T., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Lang-Walker, Rosalyn, Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Logue, Mark W., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Manly, Jennifer J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, Mayeux, Richard, McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Murrell, Jill R., Naj, Adam C., Obisesan, Thomas O., Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Pericak-Vance, Margaret A., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raj, Towfique, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rosen, Howard J., Rosenberg, Roger N., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schellenberg, Gerard D., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wingo, Thomas S., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Younkin, Steven G., Yu, Chang-En, Yu, Lei, Chauhan, Ganesh, Chu, Audrey Y., Fornage, Myriam, Bis, Joshua C., Havulinna, Aki S., Sargurupremraj, Muralidharan, Smith, Albert Vernon, Adams, Hieab H.H., Choi, Seung Hoan, Trompet, Stella, Garcia, Melissa E., Manichaikul, Ani, Teumer, Alexander, Gustafsson, Stefan, Bartz, Traci M., Bellenguez, Céline, Vidal, Jean Sebastien, Jian, Xueqiu, Kjartansson, Olafur, Wiggins, Kerri L., Satizabal, Claudia L., Xue, Flora, Ripatti, Samuli, Liu, Yongmei, Deelen, Joris, Hoed, Marcel den, Heckbert, Susan R., Rice, Kenneth, Smith, Nicholas L., Wong, Quenna, Aparicio, Hugo J., Buring, Julie E., Ridker, Paul M, Berr, Claudine, Dartigues, Jean-François, Hamsten, Anders, Magnusson, Patrik K., Pedersen, Nancy L., Lannfelt, Lars, Lind, Lars, Lindgren, Cecilia M., Morris, Andrew P., Hofman, Albert, Koudstaal, Peter J., Portegies, Marileen LP., Uitterlinden, André G., de Craen, Anton JM, Ford, Ian, Jukema, J. Wouter, Stott, David J, Allen, Norrina B., Sale, Michele M., Johnson, Andrew D, Bennett, David A., De Jager, Philip L., White, Charles C., Grabe, Hans Jörgen, Paulista Markus, Marcello Ricardo, Lopez, Oscar L, Rotter, Jerome I., Nalls, Michael A., Gottesman, Rebecca F., Griswold, Michael E., Knopman, David S., Windham, B. Gwen, Beiser, Alexa, Vartiainen, Erkki, French, Curtis R., Kurth, Tobias, Psaty, Bruce M., Harris, Tamara B., Rich, Stephen S, deStefano, Anita L., Schmidt, Carsten Oliver, Salomaa, Veikko, Mosley, Thomas H., Ingelsson, Erik, van Duijn, Cornelia M., Tzourio, Christophe, Launer, Lenore J, Ikram, M. Arfan, Chasman, Daniel I., Longstreth, W. T., Jr, Seshadri, Sudha, Debette, Stéphanie, Verhaaren, Benjamin F.J., Debette, Stéphanie, Bis, Joshua C., Smith, Jennifer A., Ikram, M. Kamran, Adams, Hieab H., Beecham, Ashley H., Rajan, Kumar B., Lopez, Lorna M., Barral, Sandra, van Buchem, Mark A., van der Grond, Jeroen, Smith, Albert V., Hegenscheid, Katrin, Aggarwal, Neelum T., de Andrade, Mariza, Atkinson, Elizabeth J., Beekman, Marian, Beiser, Alexa S., Blanton, Susan H., Boerwinkle, Eric, Brickman, Adam M., Bryan, R. Nick, Chauhan, Ganesh, Chen, Christopher P.L.H., Chouraki, Vincent, de Craen, Anton J.M., Crivello, Fabrice, Deary, Ian J., Deelen, Joris, De Jager, Philip L., Dufouil, Carole, Elkind, Mitchell S.V., Evans, Denis A., Freudenberger, Paul, Gottesman, Rebecca F., Guðnason, Vilmundur, Habes, Mohamad, Heckbert, Susan R., Heiss, Gerardo, Hilal, Saima, Hofer, Edith, Hofman, Albert, Ibrahim-Verbaas, Carla A., Knopman, David S., Lewis, Cora E., Liao, Jiemin, Liewald, David C.M., Luciano, Michelle, van der Lugt, Aad, Martinez, Oliver O., Mayeux, Richard, Mazoyer, Bernard, Nalls, Mike, Nauck, Matthias, Niessen, Wiro J., Oostra, Ben A., Psaty, Bruce M., Rice, Kenneth M., Rotter, Jerome I., von Sarnowski, Bettina, Schmidt, Helena, Schreiner, Pamela J., Schuur, Maaike, Sidney, Stephen S., Sigurdsson, Sigurdur, Slagboom, P. Eline, Stott, David J.M., van Swieten, John C., Teumer, Alexander, Töglhofer, Anna Maria, Traylor, Matthew, Trompet, Stella, Turner, Stephen T., Tzourio, Christophe, Uh, Hae-Won, Uitterlinden, André G., Vernooij, Meike W., Wang, Jing J., Wong, Tien Y., Wardlaw, Joanna M., Windham, B. Gwen, Wittfeld, Katharina, Wolf, Christiane, Wright, Clinton B., Yang, Qiong, Zhao, Wei, Zijdenbos, Alex, Jukema, J. Wouter, Sacco, Ralph L., Kardia, Sharon L.R., Amouyel, Philippe, Mosley, Thomas H., Longstreth, W. T., Jr, DeCarli, Charles C., van Duijn, Cornelia M., Schmidt, Reinhold, Launer, Lenore J., Grabe, Hans J., Seshadri, Sudha S., Ikram, M. Arfan, Fornage, Myriam, Bis, Joshua C., Kavousi, Maryam, Franceschini, Nora, Isaacs, Aaron, Abecasis, Gonçalo R, Schminke, Ulf, Post, Wendy, Smith, Albert V., Cupples, L. Adrienne, Markus, Hugh S, Schmidt, Reinhold, Huffman, Jennifer E., Lehtimäki, Terho, Baumert, Jens, Münzel, Thomas, Heckbert, Susan R., Dehghan, Abbas, North, Kari, Oostra, Ben, Bevan, Steve, Stoegerer, Eva-Maria, Hayward, Caroline, Raitakari, Olli, Meisinger, Christa, Schillert, Arne, Sanna, Serena, Völzke, Henry, Cheng, Yu-Ching, Thorsson, Bolli, Fox, Caroline S., Rice, Kenneth, Rivadeneira, Fernando, Nambi, Vijay, Halperin, Eran, Petrovic, Katja E., Peltonen, Leena, Wichmann, H. Erich, Schnabel, Renate B., Dörr, Marcus, Parsa, Afshin, Aspelund, Thor, Demissie, Serkalem, Kathiresan, Sekar, Reilly, Muredach P., Taylor, Kent, Uitterlinden, Andre, Couper, David J., Sitzer, Matthias, Kähönen, Mika, Illig, Thomas, Wild, Philipp S., Orru, Marco, Lüdemann, Jan, Shuldiner, Alan R., Eiriksdottir, Gudny, White, Charles C., Rotter, Jerome I., Hofman, Albert, Seissler, Jochen, Zeller, Tanja, Usala, Gianluca, Ernst, Florian, Launer, Lenore J., DʼAgostino, Ralph B., Sr, OʼLeary, Daniel H., Ballantyne, Christie, Thiery, Joachim, Ziegler, Andreas, Lakatta, Edward G., Chilukoti, Ravi Kumar, Harris, Tamara B., Wolf, Philip A., Psaty, Bruce M., Polak, Joseph F, Li, Xia, Rathmann, Wolfgang, Uda, Manuela, Boerwinkle, Eric, Klopp, Norman, Schmidt, Helena, Wilson, James F, Viikari, Jorma, Koenig, Wolfgang, Blankenberg, Stefan, Newman, Anne B., Witteman, Jacqueline, Heiss, Gerardo, van Duijn, Cornelia, Scuteri, Angelo, Homuth, Georg, Mitchell, Braxton D., Gudnason, Vilmundur, and O’Donnell, Christopher J.

Published
2019
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6. Assessment of the genetic variance of late-onset Alzheimer's disease

Author

Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barber, Robert C., Barmada, Michael M., Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., 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., Burns, Jeffrey M., Buxbaum, Joseph D., Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Crane, Paul K., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Hardy, John, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Katz, Mindy J., Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lipton, Richard B., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., Naj, Adam C., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, St George-Hyslop, Peter, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wendland, Jens R., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Winslow, Ashley R., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Younkin, Steven G., Yu, Chang-En, Yu, Lei, Ridge, Perry G., Hoyt, Kaitlyn B., Boehme, Kevin, Haines, Jonathan L., Mayeux, Richard, Farrer, Lindsay A., Pericak-Vance, Margaret A., and Schellenberg, Gerard D.

Published
2016
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7. 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., Hendrie, Hugh, Hall, Kathleen S., Hamilton-Nelson, Kara L., Inzelberg, Rivka, Kamboh, M. Ilyas, Kauwe, John S.K., Kukull, Walter A., Kunkle, Brian W., Kuwano, Ryozo, Larson, Eric B., Logue, Mark W., Manly, Jennifer J., Martin, Eden R., Montine, Thomas J., Mukherjee, Shubhabrata, Naj, Adam, Reiman, Eric M., Reitz, Christiane, Sherva, Richard, St. George-Hyslop, Peter H., Thornton, Timothy, Younkin, Steven G., Vardarajan, Badri N., Wang, Li-San, Wendlund, Jens R., Winslow, Ashley R., Haines, Jonathan, Mayeux, Richard, Pericak-Vance, Margaret A., Schellenberg, Gerard, Lunetta, Kathryn L., Farrer, Lindsay A., Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Barmada, Michjael M., Barnes, Lisa L., Beach, Thomas G., Becker, James T., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Cribbs, David H., Crocco, Elizabeth A., De Jager, Philip L., DeCarli, Charles, DeKosky, Steven T., Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hardy, John, Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Karydas, Anna, Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lopez, Oscar L., Lyketsos, Constantine G., 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., Miller, Carol A., Miller, Joshua W., Morris, John C., Murrell, Jill R., Myers, Amanda J., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reisch, Joan S., Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Yu, Chang-En, Yu, Lei, and Zhang, Xiaoling

Subjects
0301 basic medicine, Apolipoprotein E, Epidemiology, Apolipoprotein E4, Clinical Neurology, Genomics, Genome-wide association study, Locus (genetics), Single-nucleotide polymorphism, Biology, Peroxisomal Bifunctional Enzyme, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Receptors, GABA, Developmental Neuroscience, Alzheimer Disease, SNP, Humans, Genetic Predisposition to Disease, Allele, Adaptor Proteins, Signal Transducing, Genetics, Membrane Glycoproteins, Health Policy, GTPase-Activating Proteins, Genetic architecture, NFI Transcription Factors, Psychiatry and Mental health, 030104 developmental biology, Neurology (clinical), Geriatrics and Gerontology, Genome-Wide Association Study, Heparin-binding EGF-like Growth Factor, Molecular Chaperones
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 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1-AS1 and for the interaction of the (apolipoprotein E) APOE e4 allele with NFIC SNP. We also obtained GWS evidence ( P −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.

Published
2017
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8. P3-093: NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2016 Update

Author

Gangadharan, Prabhakaran, primary, Partch, Amanda B., additional, Valladares, Otto, additional, Greenfest-Allen, Emily, additional, Childress, Daniel Micah, additional, Cweibel, Rebecca, additional, Malamon, John, additional, Lin, Han-Jen, additional, Zhao, Yi, additional, Khaladkar, Mugdha, additional, Naj, Adam C., additional, Stoeckert, Christian J., additional, Schellenberg, Gerard D., additional, and Wang, Li-San, additional

Published
2016
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9. F1-01-02: Alzheimer's Disease Sequencing Project: Search for Alzheimer's Disease Resilience Genes That May Modify Disease Susceptibility in Specific Apoe Genotype Backgrounds

Author

Marcora, Eduardo, primary, Renton, Alan E., additional, Beecham, Gary W., additional, Boerwinkle, Eric, additional, Cantwell, Laura, additional, Cruchaga, Carlos, additional, Cweibel, Rebecca, additional, Felsenfeld, Adam, additional, Fornage, Myriam, additional, Kapoor, Manav, additional, Kauwe, Keoni, additional, Khaladkar, Mugdha, additional, Kobolt, Dan, additional, Ma, Yiyi, additional, Mayeux, Richard, additional, Miller, Marilyn, additional, Naj, Adam C., additional, Partch, Amanda B., additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Seshadri, Sudha, additional, Vardarajan, Badri N., additional, Wang, Li-San, additional, Bis, Joshua C., additional, Farrer, Lindsay A., additional, and Goate, Alison M., additional

Published
2016
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10. P2-077: Alzheimer's Disease Sequencing Project: Search for Alzheimer's Disease Resilience Genes That May Modify Disease Susceptibility in Specific Apoe Genotype Backgrounds

Author

Marcora, Eduardo, primary, Renton, Alan E., additional, Beecham, Gary W., additional, Boerwinkle, Eric, additional, Cantwell, Laura, additional, Cruchaga, Carlos, additional, Cweibel, Rebecca, additional, Felsenfeld, Adam, additional, Fornage, Myriam, additional, Kapoor, Manav, additional, Kauwe, Keoni, additional, Khaladkar, Mugdha, additional, Kobolt, Dan, additional, Ma, Yiyi, additional, Mayeux, Richard, additional, Miller, Marilyn, additional, Naj, Adam C., additional, Partch, Amanda B., additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Seshadri, Sudha, additional, Vardarajan, Badri N., additional, Wang, Li-San, additional, Bis, Joshua C., additional, Farrer, Lindsay A., additional, and Goate, Alison M., additional

Published
2016
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11. Assessment of the genetic variance of late-onset Alzheimer's disease

Author

Ridge, Perry G., primary, Hoyt, Kaitlyn B., additional, Boehme, Kevin, additional, Mukherjee, Shubhabrata, additional, Crane, Paul K., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Farrer, Lindsay A., additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Kauwe, John S.K., additional, Adams, Perrie M., additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barmada, Michael M., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Bennett, David A., additional, Bigio, Eileen H., additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Burke, James R., additional, Burns, Jeffrey M., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Chris S., additional, Carlsson, Cynthia M., 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, Cruchaga, Carlos, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, Demirci, F. Yesim, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, Nilufer, additional, Evans, Denis A., additional, Faber, Kelley M., additional, Fairchild, Thomas J., additional, Fallon, Kenneth B., additional, Fardo, David W., additional, Farlow, Martin R., additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Galasko, Douglas R., additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hamilton, Ronald L., additional, Hamilton-Nelson, Kara L., additional, Hardy, John, additional, Harrell, Lindy E., additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Jarvik, Gail P., additional, Jicha, Gregory A., additional, Jin, Lee-Way, additional, Jun, Gyungah, additional, Kamboh, M. Ilyas, additional, Karydas, Anna, additional, Katz, Mindy J., additional, Kaye, Jeffrey A., additional, Kim, Ronald, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, Kunkle, Brian W., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Leverenz, James B., additional, Levey, Allan I., additional, Li, Ge, additional, Lieberman, Andrew P., additional, Lin, Chiao-Feng, additional, Lipton, Richard B., additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mack, Wendy J., additional, Marson, Daniel C., additional, Martin, Eden R., 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, Montine, Thomas J., additional, Morris, John C., additional, Murrell, Jill R., additional, Myers, Amanda J., additional, Naj, Adam C., additional, O'Bryant, Sid, additional, Olichney, John M., additional, Pankratz, Vernon S., additional, Parisi, Joseph E., additional, Partch, Amanda, additional, Paulson, Henry L., additional, Perry, William, 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, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Reitz, Christiane, additional, Ringman, John M., additional, Roberson, Erik D., additional, Rogaeva, Ekaterina, additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Royall, Donald R., additional, Sager, Mark A., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., additional, Schneider, Lon S., additional, Seeley, William W., additional, Smith, Amanda G., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Thornton-Wells, Tricia A., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., 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, Wang, Li-San, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Wendland, Jens R., additional, Wilhelmsen, Kirk C., additional, Williamson, Jennifer, additional, Wingo, Thomas S., additional, Winslow, Ashley R., additional, Wishnek, Sarah, additional, Woltjer, Randall L., additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, and Yu, Lei, additional

Published
2016
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12. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

Author

Lill, Christina M., Rengmark, Aina, Pihlstrom, Lasse, Fogh, Isabella, Shatunov, Aleksey, Sleiman, Patrick M., Wang, Li-San, Liu, Tian, Lassen, Christina F., Meissner, Esther, Alexopoulos, Panos, Calvo, Andrea, Chio, Adriano, Dizdar, Nil, Faltraco, Frank, Forsgren, Lars, Kirchheiner, Julia, Kurz, Alexander, Larsen, Jan P., Liebsch, Maria, Linder, Jan, Morrison, Karen E., Nissbrandt, Hans, Otto, Markus, Pahnke, Jens, Partch, Amanda, Restagno, Gabriella, Rujescu, Dan, Schnack, Cathrin, Shaw, Christopher E., Shaw, Pamela J., Tumani, Hayrettin, Tysnes, Ole-Bjorn, Valladares, Otto, Silani, Vincenzo, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Lindenberger, Ulman, Steinhagen-Thiessen, Elisabeth, Teipel, Stefan, Perneczky, Robert, Hakonarson, Hakon, Hampel, Harald, von Arnim, Christine A. F., Olsen, Jorgen H., Van Deerlin, Vivianna M., Al-Chalabi, Ammar, Toft, Mathias, Ritz, Beate, Bertram, Lars, Lill, Christina M., Rengmark, Aina, Pihlstrom, Lasse, Fogh, Isabella, Shatunov, Aleksey, Sleiman, Patrick M., Wang, Li-San, Liu, Tian, Lassen, Christina F., Meissner, Esther, Alexopoulos, Panos, Calvo, Andrea, Chio, Adriano, Dizdar, Nil, Faltraco, Frank, Forsgren, Lars, Kirchheiner, Julia, Kurz, Alexander, Larsen, Jan P., Liebsch, Maria, Linder, Jan, Morrison, Karen E., Nissbrandt, Hans, Otto, Markus, Pahnke, Jens, Partch, Amanda, Restagno, Gabriella, Rujescu, Dan, Schnack, Cathrin, Shaw, Christopher E., Shaw, Pamela J., Tumani, Hayrettin, Tysnes, Ole-Bjorn, Valladares, Otto, Silani, Vincenzo, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Lindenberger, Ulman, Steinhagen-Thiessen, Elisabeth, Teipel, Stefan, Perneczky, Robert, Hakonarson, Hakon, Hampel, Harald, von Arnim, Christine A. F., Olsen, Jorgen H., Van Deerlin, Vivianna M., Al-Chalabi, Ammar, Toft, Mathias, Ritz, Beate, and Bertram, Lars

Abstract

A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Here we comprehensively assessed TREM2 rs75932628 for association with these diseases in a total of 19,940 previously untyped subjects of European descent. These data were combined with those from 28 published data sets by meta-analysis. Furthermore, we tested whether rs75932628 shows association with amyloid beta (Ab42) and total-tau protein levels in the cerebrospinal fluid (CSF) of 828 individuals with AD or mild cognitive impairment. Our data show that rs75932628 is highly significantly associated with the risk of AD across 24,086 AD cases and 148,993 controls of European descent (odds ratio or OR = 2.71, P = 4.67 x 10(-25)). No consistent evidence for association was found between this marker and the risk of FTLD (OR = 2.24, P = .0113 across 2673 cases/9283 controls), PD (OR 5 1.36, P = .0767 across 8311 cases/79,938 controls) and ALS (OR 5 1.41, P = .198 across 5544 cases/7072 controls). Furthermore, carriers of the rs75932628 risk allele showed significantly increased levels of CSF-total-tau (P = .0110) but not Ab42 suggesting that TREM2's role in AD may involve tau dysfunction. (C) 2015 The Alzheimer's Association.

Published
2015
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13. Genome‐wide linkage analyses of non‐Hispanic white families identify novel loci for familial late‐onset Alzheimer's disease

Author

Kunkle, Brian W., primary, Jaworski, James, additional, Barral, Sandra, additional, Vardarajan, Badri, additional, Beecham, Gary W., additional, Martin, Eden R., additional, Cantwell, Laura S., additional, Partch, Amanda, additional, Bird, Thomas D., additional, Raskind, Wendy H., additional, DeStefano, Anita L., additional, Carney, Regina M., additional, Cuccaro, Michael, additional, Vance, Jeffrey M., additional, Farrer, Lindsay A., additional, Goate, Alison M., additional, Foroud, Tatiana, additional, Mayeux, Richard P., additional, Schellenberg, Gerard D., additional, Haines, Jonathan L., additional, and Pericak‐Vance, Margaret A., additional

Published
2015
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14. P1-061: Nia genetics of Alzheimer's disease data storage site (NIAGADS): 2015 update

Author

Partch, Amanda B., primary, Laufer, Daniel, additional, Valladares, Otto, additional, Iodice, John, additional, Greenfest-Allen, Emily, additional, Childress, Daniel Micah, additional, Malamon, John, additional, Gangadharan, Prabhakaran, additional, Arnold, Steven E., additional, Stoeckert, Christian J., additional, Schellenberg, Gerard D., additional, and Wang, Li-San, additional

Published
2015
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15. Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States

Author

Wang, Li-San, primary, Naj, Adam C., additional, Graham, Robert R., additional, Crane, Paul K., additional, Kunkle, Brian W., additional, Cruchaga, Carlos, additional, Murcia, Josue D. Gonzalez, additional, Cannon-Albright, Lisa, additional, Baldwin, Clinton T., additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Kukull, Walter A., additional, Faber, Kelley M., additional, Schupf, Nicole, additional, Norton, Maria C., additional, Tschanz, JoAnn T., additional, Munger, Ronald G., additional, Corcoran, Christopher D., additional, Rogaeva, Ekaterina, additional, Lin, Chiao-Feng, additional, Dombroski, Beth A., additional, Cantwell, Laura B., additional, Partch, Amanda, additional, Valladares, Otto, additional, Hakonarson, Hakon, additional, St George-Hyslop, Peter, additional, Green, Robert C., additional, Goate, Alison M., additional, Foroud, Tatiana M., additional, Carney, Regina M., additional, Larson, Eric B., additional, Behrens, Timothy W., additional, Kauwe, John S. K., additional, Haines, Jonathan L., additional, Farrer, Lindsay A., additional, Pericak-Vance, Margaret A., additional, Mayeux, Richard, additional, Schellenberg, Gerard D., additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Barber, Robert, additional, Barmada, M. Michael, additional, Barnes, Lisa L., additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Bennett, David A., additional, Bigio, Eileen H., additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Burke, James R., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cao, Chuanhai, additional, Carlson, Chris S., additional, Carroll, Steven L., additional, Chui, Helena C., additional, Clark, David G., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, DeCarli, Charles, additional, DeKosky, Steven T., additional, Demirci, F. Yesim, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Duara, Ranjan, additional, Ertekin-Taner, Nilufer, 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, Graff-Radford, Neill R., additional, Growdon, John H., additional, Hamilton, Ronald L., additional, Hamilton-Nelson, Kara L., additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Honig, Lawrence S., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Jarvik, Gail P., additional, Jicha, Gregory A., additional, Jin, Lee-Way, additional, Jun, Gyungah, additional, Kamboh, M. Ilyas, additional, Karydas, Anna, additional, Kaye, Jeffrey A., additional, Kim, Ronald, additional, Koo, Edward H., additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kramer, Patricia, additional, LaFerla, Frank M., additional, Lah, James J., additional, Leverenz, James B., additional, Levey, Allan I., additional, Li, Ge, additional, Lieberman, Andrew P., additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mack, Wendy J., additional, Marson, Daniel C., additional, Martin, Eden R., 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, M. Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Morris, John C., additional, Murrell, Jill R., additional, Olichney, John M., additional, Parisi, Joseph E., additional, Perry, William, 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, Reiman, Eric M., additional, Reisberg, Barry, additional, Reitz, Christiane, additional, Ringman, John M., additional, Roberson, Erik D., additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., 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, Tsuang, Debby W., 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
2015
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16. Reassessment of Risk Genotypes (GRN,TMEM106B, andABCC9Variants) Associated With Hippocampal Sclerosis of Aging Pathology

Author

Nelson, Peter T., primary, Wang, Wang-Xia, additional, Partch, Amanda B., additional, Monsell, Sarah E., additional, Valladares, Otto, additional, Ellingson, Sally R., additional, Wilfred, Bernard R., additional, Naj, Adam C., additional, Wang, Li-San, additional, Kukull, Walter A., additional, and Fardo, David W., additional

Published
2015
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17. P3‐020: NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE (NIAGADS): 2014 UPDATE

Author

Wang, Li‐San, primary, Wang, Li‐San, additional, Valladares, Otto, additional, Childress, Daniel Micah, additional, Partch, Amanda, additional, Laufer, Daniel, additional, Iodice, John, additional, Lawrence, Cris, additional, Hu, Tianyan, additional, Malamon, John, additional, Tang, Mitchell, additional, Lin, Chiao‐Feng, additional, Arnold, Steven E., additional, Stoeckert, Christian J., additional, and Schellenberg, Gerard D., additional

Published
2014
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20. THE ALZHEIMER’S DISEASE SEQUENCING PROJECT (ADSP): DATA PRODUCTION, MANAGEMENT, AND AVAILABILITY

Author

Partch, Amanda B., DeStefano, Anita L., Cantwell, Laura, Faber, Kelley, Feolo, Mike, Stine, Adam, Gupta, Namrata, Salerno, William, Kobolt, Dan, Valladares, Otto, Bis, Joshua C., Childress, Daniel Micah, Cweibel, Rebecca, Dugan-Rocha, Shannon, Gangadharan, Prabhakaran, Choi, Seung Hoan, Stiening, Shannon, Reyes-Dumeyer, Dolly, Boerwinkle, Eric, Schellenberg, Gerard D., Seshadri, Sudha, Foroud, Tatiana M., and Wang, Li-San

Published
2016
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21. ALZHEIMER'S DISEASE SEQUENCING PROJECT: SEARCH FOR ALZHEIMER'S DISEASE RESILIENCE GENES THAT MAY MODIFY DISEASE SUSCEPTIBILITY IN SPECIFIC APOE GENOTYPE BACKGROUNDS

Author

Marcora, Eduardo, Renton, Alan E., Beecham, Gary W., Boerwinkle, Eric, Cantwell, Laura, Cruchaga, Carlos, Cweibel, Rebecca, Felsenfeld, Adam, Fornage, Myriam, Kapoor, Manav, Kauwe, Keoni, Khaladkar, Mugdha, Kobolt, Dan, Ma, Yiyi, Mayeux, Richard, Miller, Marilyn, Naj, Adam C., Partch, Amanda B., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Seshadri, Sudha, Vardarajan, Badri N., Wang, Li-San, Bis, Joshua C., Farrer, Lindsay A., and Goate, Alison M.

Published
2016
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23. Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Author

Kunkle, Brian W., Jaworski, James, Barral, Sandra, Vardarajan, Badri, Beecham, Gary W., Martin, Eden R., Cantwell, Laura S., Partch, Amanda, Bird, Thomas D., Raskind, Wendy H., DeStefano, Anita L., Carney, Regina M., Cuccaro, Michael, Vance, Jeffrey M., Farrer, Lindsay A., Goate, Alison M., Foroud, Tatiana, Mayeux, Richard P., Schellenberg, Gerard D., and Haines, Jonathan L.

Abstract

Introduction Few high penetrance variants that explain risk in late-onset Alzheimer's disease (LOAD) families have been found. Methods We performed genome-wide linkage and identity-by-descent (IBD) analyses on 41 non-Hispanic white families exhibiting likely dominant inheritance of LOAD, and having no mutations at known familial Alzheimer's disease (AD) loci, and a low burden of APOE ε4 alleles. Results Two-point parametric linkage analysis identified 14 significantly linked regions, including three novel linkage regions for LOAD (5q32, 11q12.2–11q14.1, and 14q13.3), one of which replicates a genome-wide association LOAD locus, the MS4A6A-MS4A4E gene cluster at 11q12.2. Five of the 14 regions (3q25.31, 4q34.1, 8q22.3, 11q12.2–14.1, and 19q13.41) are supported by strong multipoint results (logarithm of odds [LOD*] ≥1.5). Nonparametric multipoint analyses produced an additional significant locus at 14q32.2 (LOD* = 4.18). The 1-LOD confidence interval for this region contains one gene, C14orf177 , and the microRNA Mir_320 , whereas IBD analyses implicates an additional gene BCL11B , a regulator of brain-derived neurotrophic signaling, a pathway associated with pathogenesis of several neurodegenerative diseases. Discussion Examination of these regions after whole-genome sequencing may identify highly penetrant variants for familial LOAD. [ABSTRACT FROM AUTHOR]

Published
2016
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24. LOW-FREQUENCY VARIANT IMPUTATION IDENTIFIES NOVEL DISEASE-ASSOCIATED LOCI IN A GENOME-WIDE ASSOCIATION STUDY OF LATE-ONSET ALZHEIMER'S DISEASE

Author

Kunkle, Brian W., Naj, Adam C., Hamilton-Nelson, Kara, Perry, William R., Partch, Amanda, Valladares, Otto, Chung, Jaeyoon, Jun, Gyungah, Schmidt, Mike, Beecham, Gary, Wang, Li-San, Martin, Eden, Mayeux, Richard, Haines, Jonathan, Farrer, Lindsay A., Schellenberg, Gerard D., and Pericak-Vance, Margaret

Published
2014
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26. A novel Alzheimer disease locus located near the gene encoding tau protein

Author

Herold, Christine, Bird, Thomas D, Destefano, Hanon, Tárraga, Levey, Allan I, Vinters, Harry V, Frölich, Lutz, Rujescu, Reisberg, Barry, Martiniuk, Frank, Raskind, Murray, Clarke, Germanou, Antonia, Mosley, Mead, Miller, Carol A, Kehoe, Patrick G, Apostolova, Liana G, Roberson, Erik D, Hamilton, Ronald L, Welsh-Bohmer, Kathleen A, Reiman, Larson, Baldwin, Clinton T, Schneider, Julie A, Dunstan, Letenneur, Corneveaux, Jason, DeKosky, Steven T, Pickering-Brown, Stuart, Schellenberg, Owen, Michael J, Escott-Price, Rossor, Martin, Farrer, Nalls, Turton, James, Smith, Amanda G, Royall, Donald R, McQuillin, Andrew, Mukherjee, Shubhabrata, Vonsattel, Jean Paul, Dartigues, Wang, Seshadri, Leverenz, James B, Oldham, Harriet, Masliah, Eliezer, Glass, Jonathan D, Dick, Malcolm, Ben-Shlomo, Yoav, Yu, Lei, Kamboh, Faber, Kelley M, Ringman, John M, Russo, Giancarlo, Tanzi, Rudolph E, Schott, Jonathan M, Jöckel, Karl-Heinz, Crocco, Elizabeth A, Vronskaya, Tzourio, Lin, Chiao-Feng, Lord, Jenny, Lynch, Aoibhinn, Powell, Bigio, Eileen H, Buxbaum, Ma, Li, Ortega-Cubero, Sara, Riedel-Heller, Steffi, Emilsson, Barmada, Michjael M, Albin, Roger L, Gill, DeCarli, Charles, Wendland, Partch, Amanda, Collinge, John, Hooper, Nigel M, Cao, Chuanhai, Heuser, Isabella, Koo, Edward H, Adams, Perrie M, Miller, Joshua W, Miller, Bruce L, Murrell, Jill R, Stern, Robert A, Stretton, Alexandra, Wilhelmsen, Galasko, Douglas R, Moebus, Susanne, Kukull, Gkatzima, Olymbia, Hardy, John, Rosenberg, Roger N, Perry, William, McDavid, Andrew N, Schürmann, Britta, Albert, Marilyn S, Gwilliam, Rhian, Chui, Helena C, Tsolaki, Magda, Gilbert, John R, Brown, Kristelle, McCurry, Susan M, Lupton, Michelle, Farlow, Martin R, Mash, Deborah C, Carlson, Chris S, De Jager, Paulson, Henry L, Dichgans, Martin, Petersen, Ronald C, Hulette, Christine M, Head, Elizabeth, Hampel, Chouraki, Asthana, Sanjay, Lawlor, Brian, Schmidt, O'Bryant, Sid, Kauwe, John S. K., Brayne, Raj, Ashok, Kim, Ronald, Burke, James R, Gudnason, Li, Ge, Williamson, Jennifer, Klopp, Norman, Warden, Donald, Gerrish, Amy, Denning, Love, Rotter, Cruchaga, Carlos, Ghetti, Bernardino, Chung, Ryan, Natalie, Parisi, Joseph E, Ferris, Steven, Nöthen, Psaty, Wright, Clinton B, Jin, Lee-Way, Ibrahim-Verbaas, Cairns, Nigel J, Thomas, Charlene, Naj, Barnes, Lisa L, Boada, Shaw, Christopher E, Arnold, Steven E, Blacker, Deborah, Van Broeckhoven, Heun, Reiner, Karydas, Anna, Hofman, Sano, Mary, Vardy, Emma, Pankratz, Vernon S, Graff-Radford, Neill R, Warren, Jason D, Gearing, Marla, Winslow, McKee, Ann C, Choi, Laza, Jonsson, Bisceglio, Gina, Kamatani, Seeley, William W, Al-Chalabi, Ammar, St George-Hyslop, Beekly, Sager, Mark A, Holmes, Reitz, Christiane, Huentelman, Matthew J, Bayer, Anthony, Lyketsos, Constantine G, Doody, Rachelle S, Mayo, Kevin, Eiriksdottir, Lacour, André, Van Eldik, Linda J, Fairchild, Thomas J, Launer, Makrina, Daniilidou, Jun, Tsuang, Debby W, LaFerla, Frank M, Maier, Yesim Demirci, Woltjer, Randall L, Amouyel, Mann, David, Honig, Lawrence S, Gurling, Hugh, De Bruijn, Huebinger, Ryan M, Guerreiro, Rita, Hüll, Michael, Frosch, Matthew P, O'Donovan, Haines, Bellenguez, Pericak-Vance, Boxer, Adam, Mayhaus, Manuel, Lovestone, Simon, Fitzpatrick, Green, Robert C, Lathrop, Becker, Kunkle, McCormick, Wayne C, Kramer, Joel H, Wilcock, Gordon, Pasquier, Jessen, Frank, Weintraub, Sandra, Gu, Wei, Marson, Daniel C, Evans, Younkin, Amin, Troncoso, Juan C, Van Duijn, Gallacher, John, Campion, Proitsi, Petroula, Grenier-Boley, Saykin, Andrew J, Pichler, Sabrina, Lunetta, Fox, Craig, David, Carrasquillo, Minerva M, Boeve, Bradley F, Clark, David G, Poon, Wayne W, Todd, Stephen, Duara, Ranjan, Atwood, Craig S, Dufouil, Lopez, Oscar L, Olichney, John M, Warner, Nick, Wichmann, H.-Erich, Boland, Holmans, Bowen, James D, Singleton, Andrew B, Harrell, Lindy E, Peskind, Elaine, Bennett, Geschwind, Daniel H, Uphill, James, Thornton-Wells, Tricia A, Harold, Foroud, Zelenika, Crane, Trojanowski, John Q, Fisher, Elizabeth, Growdon, John H, Johnston, Janet A, Sims, Jakobsdóttir, Medway, Christopher, van den Bussche, Hendrik, Van Der Lee, Kornhuber, Johannes, Barber, Chapman, Jade, Jones, Ikram, Kölsch, Heike, Morgan, Wiltfang, Jens, Martin, Ramirez, Drichel, Dmitriy, Potter, Huntington, Hyman, Bradley T, Fievet, Smith, Valladares, Pierce, Aimee, Koutroumani, Maria, Deloukas, Panagiotis, Williams, Hamilton-Nelson, Jarvik, Gail P, Schneider, Lon S, Morgan, Angharad, Sonnen, Joshua A, Bass, Nicholas J, Yu, Chang-En, Beach, Thomas G, Jicha, Gregory A, Hakonarson, Hakon, Montine, Kaye, Jeffrey A, Wishnek, Sarah, Cribbs, David H, Pastor, Rosen, Howard J, Hoffmann, Per, Smith, A. David, Van Deerlin, Vivianna M, Hannequin, Carney, Regina M, Beecham, Goate, Spina, Salvatore, Mack, Wendy J, Mesulam, Marsel, Riemenschneider, Matthias, Reisch, Joan S, Berr, Ertekin-Taner, Nilufer, Deramecourt, Hollingworth, Paul, Avramidou, Despoina, Morris, John C, Wu, Chuang-Kuo, Passmore, Quinn, Joseph F, Feulner, Thomas, Carroll, Steven L, Rogaeva, Ekaterina, Cantwell, Bis, Dickson, Dennis W, Myers, Amanda J, Vardarajan, Badri N, Carasquillo, McGuinness, Bernadette, Kowall, Neil W, Rubinsztein, David C, Mayeux, Carlsson, Cynthia M, Livingston, Gill, Lieberman, Andrew P, Fallon, Kenneth B, Lambert, and Lah, James J

Subjects
3. Good health
Abstract

APOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer’s Project (IGAP) Consortium in APOE ε4+ (10,352 cases and 9,207 controls) and APOE ε4− (7,184 cases and 26,968 controls) subgroups as well as in the total sample testing for interaction between a SNP and APOE ε4 status. Suggestive associations (P

30. Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Author

Kunkle BW, Jaworski J, Barral S, Vardarajan B, Beecham GW, Martin ER, Cantwell LS, Partch A, Bird TD, Raskind WH, DeStefano AL, Carney RM, Cuccaro M, Vance JM, Farrer LA, Goate AM, Foroud T, Mayeux RP, Schellenberg GD, Haines JL, and Pericak-Vance MA

Subjects
Aged, Aged, 80 and over, Apolipoproteins E genetics, Genetic Predisposition to Disease, Humans, Middle Aged, Pedigree, Alzheimer Disease genetics, Genetic Linkage, Genome-Wide Association Study, White People genetics
Abstract

Introduction: Few high penetrance variants that explain risk in late-onset Alzheimer's disease (LOAD) families have been found., Methods: We performed genome-wide linkage and identity-by-descent (IBD) analyses on 41 non-Hispanic white families exhibiting likely dominant inheritance of LOAD, and having no mutations at known familial Alzheimer's disease (AD) loci, and a low burden of APOE ε4 alleles., Results: Two-point parametric linkage analysis identified 14 significantly linked regions, including three novel linkage regions for LOAD (5q32, 11q12.2-11q14.1, and 14q13.3), one of which replicates a genome-wide association LOAD locus, the MS4A6A-MS4A4E gene cluster at 11q12.2. Five of the 14 regions (3q25.31, 4q34.1, 8q22.3, 11q12.2-14.1, and 19q13.41) are supported by strong multipoint results (logarithm of odds [LOD*] ≥1.5). Nonparametric multipoint analyses produced an additional significant locus at 14q32.2 (LOD* = 4.18). The 1-LOD confidence interval for this region contains one gene, C14orf177, and the microRNA Mir_320, whereas IBD analyses implicates an additional gene BCL11B, a regulator of brain-derived neurotrophic signaling, a pathway associated with pathogenesis of several neurodegenerative diseases., Discussion: Examination of these regions after whole-genome sequencing may identify highly penetrant variants for familial LOAD., (Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2016
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31. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

Author

Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CE, Shaw PJ, Tumani H, Tysnes OB, Valladares O, Silani V, van den Berg LH, van Rheenen W, Veldink JH, Lindenberger U, Steinhagen-Thiessen E, Teipel S, Perneczky R, Hakonarson H, Hampel H, von Arnim CAF, Olsen JH, Van Deerlin VM, Al-Chalabi A, Toft M, Ritz B, and Bertram L

Subjects
Aged, Alleles, Amyotrophic Lateral Sclerosis genetics, Case-Control Studies, Female, Frontotemporal Lobar Degeneration genetics, Genotype, Humans, Male, Middle Aged, Parkinson Disease genetics, Quantitative Trait Loci, Risk Factors, White People, tau Proteins cerebrospinal fluid, Alzheimer Disease genetics, Genetic Predisposition to Disease, Membrane Glycoproteins genetics, Neurodegenerative Diseases genetics, Receptors, Immunologic genetics
Abstract

A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Here we comprehensively assessed TREM2 rs75932628 for association with these diseases in a total of 19,940 previously untyped subjects of European descent. These data were combined with those from 28 published data sets by meta-analysis. Furthermore, we tested whether rs75932628 shows association with amyloid beta (Aβ42) and total-tau protein levels in the cerebrospinal fluid (CSF) of 828 individuals with AD or mild cognitive impairment. Our data show that rs75932628 is highly significantly associated with the risk of AD across 24,086 AD cases and 148,993 controls of European descent (odds ratio or OR = 2.71, P = 4.67 × 10(-25)). No consistent evidence for association was found between this marker and the risk of FTLD (OR = 2.24, P = .0113 across 2673 cases/9283 controls), PD (OR = 1.36, P = .0767 across 8311 cases/79,938 controls) and ALS (OR = 1.41, P = .198 across 5544 cases/7072 controls). Furthermore, carriers of the rs75932628 risk allele showed significantly increased levels of CSF-total-tau (P = .0110) but not Aβ42 suggesting that TREM2's role in AD may involve tau dysfunction., (Copyright © 2015 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.)

Published
2015
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