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1. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Author

Wang, Hui, Chang, Timothy S, Dombroski, Beth A, Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Kaat, Laura Donker, Van Swieten, John C, Dopper, Elise, Ghetti, Bernardino F, Newell, Kathy L, Troakes, Claire, de Yébenes, Justo G, Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H, Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G, Serrano, Geidy E, Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A, Galasko, Douglas, Boxer, Adam L, Miller, Bruce L, Seeley, Willian W, Van Deerlin, Vivanna M, Lee, Edward B, White, Charles L, Morris, Huw, de Silva, Rohan, Crary, John F, Goate, Alison M, Friedman, Jeffrey S, Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C, Wang, Li-San, Dalgard, Clifton, Dickson, Dennis W, Höglinger, Günter U, Schellenberg, Gerard D, Geschwind, Daniel H, and Lee, Wan-Ping

Subjects
Biological Sciences, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Acquired Cognitive Impairment, Frontotemporal Dementia (FTD), Rare Diseases, Neurosciences, Dementia, Human Genome, Brain Disorders, Biotechnology, Aging, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease, 2.1 Biological and endogenous factors, Neurological, Progressive Supranuclear Palsy, Whole-Genome Sequencing, Genome-Wide Association Study, Structural Variants, Apolipoprotein E, P. S. P. genetics study group, Humans, Supranuclear Palsy, Progressive, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Aged, Aged, 80 and over, Middle Aged, Female, Male, Whole Genome Sequencing, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology
Abstract

BackgroundProgressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and structural variants (SVs).MethodIn this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were clinically diagnosed.ResultsOur analysis of common SNVs and indels confirmed known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and SP1, and further uncovered novel signals in APOE, FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1. Notably, in contrast to Alzheimer's disease (AD), we observed the APOE ε2 allele to be the risk allele in PSP. Analysis of rare SNVs and indels identified significant association in ZNF592 and further gene network analysis identified a module of neuronal genes dysregulated in PSP. Moreover, seven common SVs associated with PSP were observed in the H1/H2 haplotype region (17q21.31) and other loci, including IGH, PCMT1, CYP2A13, and SMCP. In the H1/H2 haplotype region, there is a burden of rare deletions and duplications (P = 6.73 × 10-3) in PSP.ConclusionsThrough WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions.

Published
2024

2. Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

Author

Farrell, Kurt, Humphrey, Jack, Chang, Timothy, Zhao, Yi, Leung, Yuk Yee, Kuksa, Pavel P., Patil, Vishakha, Lee, Wan-Ping, Kuzma, Amanda B., Valladares, Otto, Cantwell, Laura B., Wang, Hui, Ravi, Ashvin, De Sanctis, Claudia, Han, Natalia, Christie, Thomas D., Afzal, Robina, Kandoi, Shrishtee, Whitney, Kristen, Krassner, Margaret M., Ressler, Hadley, Kim, SoongHo, Dangoor, Diana, Iida, Megan A., Casella, Alicia, Walker, Ruth H., Nirenberg, Melissa J., Renton, Alan E., Babrowicz, Bergan, Coppola, Giovanni, Raj, Towfique, Höglinger, Günter U., Müller, Ulrich, Golbe, Lawrence I., Morris, Huw R., Hardy, John, Revesz, Tamas, Warner, Tom T., Jaunmuktane, Zane, Mok, Kin Y., Rademakers, Rosa, Dickson, Dennis W., Ross, Owen A., Wang, Li-San, Goate, Alison, Schellenberg, Gerard, Geschwind, Daniel H., Crary, John F., and Naj, Adam

Published
2024
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3. Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Author

Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Kaat, Laura Donker, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivanna M., Lee, Edward B., White, III, Charles L., Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., and Lee, Wan-Ping

Published
2024
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4. Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

Author

Farrell, Kurt, Humphrey, Jack, Chang, Timothy, Zhao, Yi, Leung, Yuk Yee, Kuksa, Pavel P., Patil, Vishakha, Lee, Wan-Ping, Kuzma, Amanda B., Valladares, Otto, Cantwell, Laura B., Wang, Hui, Ravi, Ashvin, De Sanctis, Claudia, Han, Natalia, Christie, Thomas D., Afzal, Robina, Kandoi, Shrishtee, Whitney, Kristen, Krassner, Margaret M., Ressler, Hadley, Kim, SoongHo, Dangoor, Diana, Iida, Megan A., Casella, Alicia, Walker, Ruth H., Nirenberg, Melissa J., Renton, Alan E., Babrowicz, Bergan, Coppola, Giovanni, Raj, Towfique, Höglinger, Günter U., Müller, Ulrich, Golbe, Lawrence I., Morris, Huw R., Hardy, John, Revesz, Tamas, Warner, Tom T., Jaunmuktane, Zane, Mok, Kin Y., Rademakers, Rosa, Dickson, Dennis W., Ross, Owen A., Wang, Li-San, Goate, Alison, Schellenberg, Gerard, Geschwind, Daniel H., Crary, John F., and Naj, Adam

Published
2024
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6. Human whole-exome genotype data for Alzheimer’s disease

Author

Leung, Yuk Yee, Naj, Adam C., Chou, Yi-Fan, Valladares, Otto, Schmidt, Michael, Hamilton-Nelson, Kara, Wheeler, Nicholas, Lin, Honghuang, Gangadharan, Prabhakaran, Qu, Liming, Clark, Kaylyn, Kuzma, Amanda B., Lee, Wan-Ping, Cantwell, Laura, Nicaretta, Heather, Haines, Jonathan, Farrer, Lindsay, Seshadri, Sudha, Brkanac, Zoran, Cruchaga, Carlos, Pericak-Vance, Margaret, Mayeux, Richard P., Bush, William S., Destefano, Anita, Martin, Eden, Schellenberg, Gerard D., and Wang, Li-San

Published
2024
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7. Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project.

Author

Lee, Wan‐Ping, Choi, Seung Hoan, Shea, Margaret G., Cheng, Po‐Liang, Dombroski, Beth A., Pitsillides, Achilleas N., Heard‐Costa, Nancy L., Wang, Hui, Bulekova, Katia, Kuzma, Amanda B., Leung, Yuk Yee, Farrell, John J., Lin, Honghuang, Kunkle, Brian W., Naj, Adam, Blue, Elizabeth E., Nusetor, Frederick, Wang, Dongyu, Boerwinkle, Eric, and Bush, William S.

Published
2024
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10. A comparative study of structural variant calling in WGS from Alzheimer’s disease families

Author

Malamon, John S, primary, Farrell, John J, additional, Xia, Li Charlie, additional, Dombroski, Beth A, additional, Das, Rueben G, additional, Way, Jessica, additional, Kuzma, Amanda B, additional, Valladares, Otto, additional, Leung, Yuk Yee, additional, Scanlon, Allison J, additional, Lopez, Irving Antonio Barrera, additional, Brehony, Jack, additional, Worley, Kim C, additional, Zhang, Nancy R, additional, Wang, Li-San, additional, Farrer, Lindsay A, additional, Schellenberg, Gerard D, additional, Lee, Wan-Ping, additional, and Vardarajan, Badri N, additional

Published
2024
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12. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Author

Bellair, Michelle, Dinh, Huyen, Doddapeneni, Harsha, Dugan-Perez, Shannon, English, Adam, Gibbs, Richard A., Han, Yi, Hu, Jianhong, Jayaseelan, Joy, Kalra, Divya, Khan, Ziad, Korchina, Viktoriya, Lee, Sandra, Liu, Yue, Liu, Xiuping, Muzny, Donna, Nasser, Waleed, Salerno, William, Santibanez, Jireh, Skinner, Evette, White, Simon, Worley, Kim, Zhu, Yiming, Beiser, Alexa, Chen, Yuning, Chung, Jaeyoon, Cupples, L. Adrienne, DeStefano, Anita, Dupuis, Josee, Farrell, John, Farrer, Lindsay, Lancour, Daniel, Lin, Honghuang, Liu, Ching Ti, Lunetta, Kathy, Ma, Yiyi, Patel, Devanshi, Sarnowski, Chloe, Satizabal, Claudia, Seshadri, Sudha, Sun, Fangui Jenny, Zhang, Xiaoling, Choi, Seung Hoan, Banks, Eric, Gabriel, Stacey, Gupta, Namrata, Bush, William, Butkiewicz, Mariusz, Haines, Jonathan, Smieszek, Sandra, Song, Yeunjoo, Barral, Sandra, De Jager, Phillip L., Mayeux, Richard, Reitz, Christiane, Reyes, Dolly, Tosto, Giuseppe, Vardarajan, Badri, Amad, Shahzad, Amin, Najaf, Ikram, M. Afran, van der Lee, Sven, van Duijn, Cornelia, Vanderspek, Ashley, Schmidt, Helena, Schmidt, Reinhold, Goate, Alison, Kapoor, Manav, Marcora, Edoardo, Renton, Alan, Faber, Kelley, Foroud, Tatiana, Feolo, Michael, Stine, Adam, Launer, Lenore J., Bennett, David A., Xia, Li Charlie, Beecham, Gary, Hamilton-Nelson, Kara, Jaworski, James, Kunkle, Brian, Martin, Eden, Pericak-Vance, Margaret, Rajabli, Farid, Schmidt, Michael, Mosley, Thomas H., Cantwell, Laura, Childress, Micah, Chou, Yi-Fan, Cweibel, Rebecca, Gangadharan, Prabhakaran, Kuzma, Amanda, Leung, Yuk Yee, Lin, Han-Jen, Malamon, John, Mlynarski, Elisabeth, Naj, Adam, Qu, Liming, Schellenberg, Gerard, Valladares, Otto, Wang, Li-San, Wang, Weixin, Zhang, Nancy, Below, Jennifer E., Boerwinkle, Eric, Bressler, Jan, Fornage, Myriam, Jian, Xueqiu, Liu, Xiaoming, Bis, Joshua C., Blue, Elizabeth, Brown, Lisa, Day, Tyler, Dorschner, Michael, Horimoto, Andrea R., Nafikov, Rafael, Nato, Alejandro Q., Jr., Navas, Pat, Nguyen, Hiep, Psaty, Bruce, Rice, Kenneth, Saad, Mohamad, Sohi, Harkirat, Thornton, Timothy, Tsuang, Debby, Wang, Bowen, Wijsman, Ellen, Witten, Daniela, Antonacci-Fulton, Lucinda, Appelbaum, Elizabeth, Cruchaga, Carlos, Fulton, Robert S., Koboldt, Daniel C., Larson, David E., Waligorski, Jason, Wilson, Richard K., Zhu, Congcong, Vardarajan, Badri N., Farrell, John J., Haines, Jonathan L., Schellenberg, Gerard D., Pericak-Vance, Margaret A., Lunetta, Kathryn L., and Farrer, Lindsay A.

Published
2019
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13. NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2023 Update

Author

Nicaretta, Heather Issen, primary, Kuzma, Amanda B, additional, Valladares, Otto, additional, Manuel, Joseph, additional, Greenfest‐Allen, Emily, additional, Gangadharan, Prabhakaran, additional, Katanic, Zivadin, additional, Kirsch, Maureen, additional, Armus, Lauren, additional, Saravanan, Naveensri, additional, Wilk, Andrew, additional, Zhao, Yi, additional, Qu, Liming, additional, Moon, Michelle K, additional, Rose, Alexis Lerro, additional, Keskinen, Peter, additional, Cifello, Jeffrey, additional, Chou, Shin‐Yi, additional, Lee, Wan‐Ping, additional, Leung, Yuk Yee, additional, Naj, Adam C., additional, Schellenberg, Gerald D., additional, and Wang, Li‐San, additional

Published
2023
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15. Identification of rare coding variants associated with Alzheimer’s disease.

Author

Khurshid, Zainab, primary, Farrer, Lindsay A., additional, Zhang, Xiaoling, additional, Martin, Eden R., additional, Kuzma, Amanda B, additional, Farrell, John, additional, Tong, Tong, additional, Zhu, Congcong, additional, Naj, Adam C., additional, Cantwell, Laura B, additional, Valladares, Otto, additional, Wang, Li‐San, additional, Lunetta, Kathryn L., additional, Schellenberg, Gerald D., additional, Haines, Jonathan L., additional, Leung, Yuk Yee, additional, and Pericak‐Vance, Margaret A., additional

Published
2023
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17. NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge

Author

Greenfest‐Allen, Emily, primary, Valladares, Otto, additional, Kuksa, Pavel P., additional, Gangadharan, Prabhakaran, additional, Lee, Wan‐Ping, additional, Cifello, Jeffrey, additional, Katanic, Zivadin, additional, Kuzma, Amanda B., additional, Wheeler, Nicholas, additional, Bush, William S., additional, Leung, Yuk Yee, additional, Schellenberg, Gerard, additional, Stoeckert, Christian J., additional, and Wang, Li‐San, additional

Published
2023
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18. Transferability of a European-derived Alzheimer’s Disease Genetic Risk Score across Multi-Ancestry Populations

Author

Nicolas, Aude, primary, Grenier-Boley, Benjamin, additional, Sherva, Richard, additional, Kim, Yoontae, additional, Kikuchi, Masataka, additional, de Rojas, Itziar, additional, Dalmasso, Carolina, additional, Zhou, Xiaopu, additional, Guen, Yann Le, additional, Arboleda-Bustos, Carlos E, additional, Camargos Bicalho, Maria Aparecida, additional, Guerchet, Maëlenn, additional, van der Lee, Sven, additional, Goss, Monica, additional, Castillo, Atahualpa, additional, Bellenguez, Céline, additional, Küçükali, Fahri, additional, Satizabal Barrera, Claudia, additional, Fongang, Bernard, additional, yang, Qiong, additional, Peters, Oliver, additional, Schneider, Anja, additional, Dichgans, Martin, additional, Rujescu, Dan, additional, Scherbaum, Norbert, additional, Deckert, Jürgen, additional, Riedel-Heller, Steffi, additional, Hausner, Lucrezia, additional, Molina Porcel, Laura, additional, Düzel, Emrah, additional, Grimmer, Timo, additional, Wiltfang, Jens, additional, Heilmann-Heimbach, Stefanie, additional, Moebus, Susanne, additional, Tegos, Thomas, additional, Scarmeas, Nikolaos, additional, Dols-Icardo, Oriol, additional, Moreno, Fermin, additional, Pérez-Tur, Jordi, additional, Bullido, María J., additional, Pastor, Pau, additional, Sánchez-Valle, Raquel, additional, Álvarez, Victoria, additional, Cao, Han, additional, Ip, Nancy Y., additional, Fu, Amy K. Y., additional, Ip, Fanny C. F., additional, Olivar, Natividad, additional, Muchnik, Carolina, additional, Cuesta, Carolina, additional, Campanelli, Lorenzo, additional, Solis, Patricia, additional, Politis, Daniel Gustavo, additional, Kochen, Silvia, additional, Brusco, Luis Ignacio, additional, Boada, Mercè, additional, García-González, Pablo, additional, Puerta, Raquel, additional, Mir, Pablo, additional, Real, Luis M, additional, Piñol-Ripoll, Gerard, additional, María García-Alberca, Jose, additional, Luís Royo, Jose, additional, Rodriguez-Rodriguez, Eloy, additional, Soininen, Hilkka, additional, Heikkinen, Sami, additional, de Mendonça, Alexandre, additional, Mehrabian, Shima, additional, Traykov, Latchezar, additional, Hort, Jakub, additional, Vyhnalek, Martin, additional, Rasmussen, Katrine Laura, additional, Qvist Thomassen, Jesper, additional, Pijnenburg, Yolande A.L., additional, Holstege, Henne, additional, van Swieten, John, additional, Ramakers, Inez, additional, Verhey, Frans, additional, van der Lugt, Aad, additional, Scheltens, Philip, additional, Ortega-Rojas, Jenny, additional, Concha Mera, Ana Gabriela, additional, Mahecha, Maria F., additional, Pardo, Rodrogo, additional, Arboleda, Gonzalo, additional, Graff, Caroline, additional, Papenberg, Goran, additional, Giedraitis, Vilmantas, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Armando de Marco, Luiz, additional, Nunes de Moraes, Edgar, additional, de Viana, Bernardo, additional, Túlio Gualberto Cintra, Marco, additional, Grsiwold, Anthony, additional, Forund, Tatiana, additional, Cruchaga, Carlos, additional, Haines, Jonathan, additional, Farrer, Lindsay, additional, DeStefano, Anita, additional, Wijsman, Ellen, additional, Mayeux, Richard, additional, Pericak-Vance, Margaret, additional, Kunkle, Brian, additional, Goate, Alison, additional, Schellenberg, Gerard D., additional, Vardarajan, Badri, additional, Wang, Li-San, additional, Leung, Yuk Yee, additional, Dalgard, Clifton, additional, Nicolas, Gael, additional, Wallon, David, additional, Dufouil, Carole, additional, Pasquier, Florence, additional, Hanon, Olivier, additional, Debette, Stéphanie, additional, Grünblatt, Edna, additional, Popp, Julius, additional, Angel, Bárbara, additional, Golger, Sergio, additional, Victoria Chacon, Maria, additional, Aranguiz, Rafael, additional, Orellana, Paulina, additional, Slachevsky, Andrea, additional, Gonzalez-Billault, Christian, additional, Albala, Cecilia, additional, Fuentes, Patricio, additional, Porter, Tenielle, additional, Laws, Simon M, additional, Sachdev, Perminder, additional, Mather, Karen, additional, Hauger, Richard L., additional, Merritt, Victoria, additional, Panizzon, Matthew, additional, Zhang, Rui, additional, Gaziano, Michael, additional, Ghidoni, Roberta, additional, Galimberti, Daniela, additional, Arosio, Beatrice, additional, Mecocci, Patrizia, additional, Solfrizzi, Vincenzo, additional, Parnetti, Lucilla, additional, Squassina, Alessio, additional, Tremolizzo, Lucio, additional, Borroni, Barbara, additional, Nacmias, Benedetta, additional, Caffarra, Paolo, additional, Seripa, Davide, additional, Rainero, Innocenzo, additional, Daniele, Antonio, additional, Piras, Fabrizio, additional, Miyashita, Akinori, additional, Hara, Norikazu, additional, Ozaki, Kouichi, additional, Niida, Shumpei, additional, Williams, Julie, additional, Masullo, Carlo, additional, Amouyel, Philippe, additional, Preux, Pierre-Marie, additional, Mbelesso, Pascal, additional, Bandzouzi, Bébène, additional, Saykin, Andy, additional, Jessen, Frank, additional, Kehoe, Patrick, additional, Van Duijn, Cornelia, additional, Gim, Jungsoo, additional, Ben Salem, Nesrine, additional, Frikke-Schmidt, Ruth, additional, Cherni, Lofti, additional, Greicius, Michael D., additional, Tsolaki, Magda, additional, Sánchez-Juan, Pascual, additional, Romano Silva, Marco Aurélio, additional, Sleegers, Kristel, additional, Ingelsson, Martin, additional, Dartigues, Jean-François, additional, Seshadri, Sudha, additional, Rossi, Giacomina, additional, Morelli, Laura, additional, Hiltunen, Mikko, additional, Sims, Rebecca, additional, van der Flier, Wiesje, additional, Andreassen, Ole, additional, Arboleda, Humberto, additional, Escott-Price, Valentina, additional, Ruiz, Agustín, additional, Lee, Kun Ho, additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Logue, Mark, additional, and Lambert, Jean-Charles, additional

Published
2023
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19. Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer’s Diseases Sequencing Project Subjects

Author

Lee, Wan-Ping, primary, Wang, Hui, additional, Dombroski, Beth, additional, Cheng, Po-Liang, additional, Tucci, Albert, additional, Si, Ya-qin, additional, Farrell, John, additional, Tzeng, Jung-Ying, additional, Leung, Yuk Yee, additional, Malamon, John, additional, Wang, Li-San, additional, Vardarajan, Badri, additional, Farrer, Lindsay, additional, Schellenberg, Gerard, additional, and Project, The Alzheimer’s Disease Sequencing Project The Alzheimer’s D, additional

Published
2023
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20. Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project

Author

Lee, Wan-Ping, primary, Choi, Seung Hoan, additional, Shea, Margaret G, additional, Cheng, Po-Liang, additional, Dombroski, Beth A, additional, Pitsillides, Achilleas N, additional, Heard-Costa, Nancy L, additional, Wang, Hui, additional, Bulekova, Katia, additional, Kuzma, Amanda B, additional, Leung, Yuk Yee, additional, Farrell, John J, additional, Lin, Honghuang, additional, Naj, Adam, additional, Blue, Elizabeth E, additional, Nusetor, Frederick, additional, Wang, Dongyu, additional, Boerwinkle, Eric, additional, Bush, William S, additional, Zhang, Xiaoling, additional, De Jager, Philip L, additional, Dupuis, Josee, additional, Farrer, Lindsay A, additional, Fornage, Myriam, additional, Martin, Eden, additional, Pericak-Vance, Margaret, additional, Seshadri, Sudha, additional, Wijsman, Ellen M, additional, Wang, Li-San, additional, Schellenberg, Gerard D, additional, Destefano, Anita L, additional, Haines, Jonathan L, additional, and Peloso, Gina M, additional

Published
2023
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21. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifiesLRRC4C, LHX5-AS1and nominates ancestry-specific lociPTPRK,GRB14, andKIAA0825as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

Author

Rajabli, Farid, primary, Benchek, Penelope, additional, Tosto, Giuseppe, additional, Kushch, Nicholas, additional, Sha, Jin, additional, Bazemore, Katrina, additional, Zhu, Congcong, additional, Lee, Wan-Ping, additional, Haut, Jacob, additional, Hamilton-Nelson, Kara L., additional, Wheeler, Nicholas R., additional, Zhao, Yi, additional, Farrell, John J., additional, Grunin, Michelle A., additional, Leung, Yuk Yee, additional, Kuksa, Pavel P., additional, Li, Donghe, additional, Lucio da Fonseca, Eder, additional, Mez, Jesse B., additional, Palmer, Ellen L., additional, Pillai, Jagan, additional, Sherva, Richard M., additional, Song, Yeunjoo E., additional, Zhang, Xiaoling, additional, Iqbal, Taha, additional, Pathak, Omkar, additional, Valladares, Otto, additional, Kuzma, Amanda B., additional, Abner, Erin, additional, Adams, Perrie M., additional, Aguirre, Alyssa, additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Allen, Mariet, additional, Alvarez, Lisa, additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Ayres, Gayle, additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Benitez, Bruno A., additional, Bennett, David, additional, Bertelson, John, additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Brewer, James, 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, Christopher S., additional, Carlsson, Cynthia M., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Chasse, Scott, additional, Chesselet, Marie-Francoise, additional, Chin, Nathaniel A., additional, Chui, Helena C., additional, Chung, Jaeyoon, additional, Craft, Suzanne, additional, Crane, Paul K., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, Cruchaga, Carlos, additional, Cuccaro, Michael L., additional, Cullum, Munro, additional, Darby, Eveleen, additional, Davis, Barbara, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, DeToledo, John, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Dombroski, Beth A., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, NIlüfer, 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, Fernandez-Hernandez, Victoria, additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Fulton-Howard, Brian, additional, Galasko, Douglas R., additional, Gamboa, Adriana, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Grabowski, Thomas J., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hall, James, additional, Hamilton, Ronald L., additional, Harari, Oscar, additional, Hardy, John, additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Henderson, Victor W., additional, Hernandez, Michelle, additional, Hohman, Timothy, additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Hynan, Linda S., additional, Ibanez, Laura, additional, Jarvik, Gail P., additional, Jayadev, Suman, additional, Jin, Lee-Way, additional, Johnson, Kim, additional, Johnson, Leigh, additional, Kamboh, M. Ilyas, additional, Karydas, Anna M., additional, Katz, Mindy J., additional, Kauwe, John S., additional, Kaye, Jeffrey A., additional, Keene, C. Dirk, additional, Khaleeq, Aisha, additional, Kim, Ronald, additional, Knebl, Janice, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Lerner, Alan, additional, Leverenz, James B., additional, Levey, Allan I., additional, Lieberman, Andrew P., additional, Lipton, Richard B., additional, Logue, Mark, additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mains, Douglas, additional, Margaret, Flanagan E., additional, Marson, Daniel C., additional, Martin, Eden R R., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, Massman, Paul, additional, Masurkar, Arjun, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McDonough, Stefan, additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Monuki, Edwin S., additional, Morris, John C., additional, Mukherjee, Shubhabrata, additional, Myers, Amanda J., additional, Nguyen, Trung, additional, O’Bryant, Sid, additional, Olichney, John M., additional, Ory, Marcia, additional, Palmer, Raymond, additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Pavlik, Valory, additional, Paydarfar, David, additional, Perez, Victoria, additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Polk, Marsha, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Qu, Liming, additional, Quiceno, Mary, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Ringman, John M., additional, Roberson, Erik D., additional, Rodriguear, Monica, 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, Slifer, Susan H., additional, Small, Scott, additional, Smith, Amanda G., additional, Smith, Janet P., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Stevens, Alan B., additional, Strittmatter, Stephen M., additional, Sultzer, David, additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Tilson, Jeffrey L., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., additional, Van Deerlin, Vivianna M., additional, van Eldik, Linda J., additional, Vance, Jeffery M., additional, Vardarajan, Badri N., additional, Vassar, Robert, additional, Vinters, Harry V., additional, Vonsattel, Jean-Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Whitehead, Patrice L., additional, Wijsman, Ellen M., additional, Wilhelmsen, Kirk C., additional, Williams, Benjamin, additional, Williamson, Jennifer, additional, Wilms, Henrik, additional, Wingo, Thomas S., additional, Wisniewski, Thomas, additional, Woltjer, Randall L., additional, Woon, Martin, additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, Yu, Lei, additional, Zhu, Xiongwei, additional, Kunkle, Brian W., additional, Bush, William S., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Jun, Gyungah R., additional, Reitz, Christiane, additional, and Naj, Adam C., additional

Published
2023
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22. NIAGADS Alzheimer's GenomicsDB: A resource for exploring Alzheimer's disease genetic and genomic knowledge.

Author

Greenfest‐Allen, Emily, Valladares, Otto, Kuksa, Pavel P., Gangadharan, Prabhakaran, Lee, Wan‐Ping, Cifello, Jeffrey, Katanic, Zivadin, Kuzma, Amanda B., Wheeler, Nicholas, Bush, William S., Leung, Yuk Yee, Schellenberg, Gerard, Stoeckert, Christian J., and Wang, Li‐San

Abstract

INTRODUCTION: The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site Alzheimer's Genomics Database (GenomicsDB) is a public knowledge base of Alzheimer's disease (AD) genetic datasets and genomic annotations. METHODS: GenomicsDB uses a custom systems architecture to adopt and enforce rigorous standards that facilitate harmonization of AD‐relevant genome‐wide association study summary statistics datasets with functional annotations, including over 230 million annotated variants from the AD Sequencing Project. RESULTS: GenomicsDB generates interactive reports compiled from the harmonized datasets and annotations. These reports contextualize AD‐risk associations in a broader functional genomic setting and summarize them in the context of functionally annotated genes and variants. DISCUSSION: Created to make AD‐genetics knowledge more accessible to AD researchers, the GenomicsDB is designed to guide users unfamiliar with genetic data in not only exploring but also interpreting this ever‐growing volume of data. Scalable and interoperable with other genomics resources using data technology standards, the GenomicsDB can serve as a central hub for research and data analysis on AD and related dementias. Highlights: The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) offers to the public a unique, disease‐centric collection of AD‐relevant GWAS summary statistics datasets.Interpreting these data is challenging and requires significant bioinformatics expertise to standardize datasets and harmonize them with functional annotations on genome‐wide scales.The NIAGADS Alzheimer's GenomicsDB helps overcome these challenges by providing a user‐friendly public knowledge base for AD‐relevant genetics that shares harmonized, annotated summary statistics datasets from the NIAGADS repository in an interpretable, easily searchable format. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Author

Beecham, Gary W., Vardarajan, Badri, Blue, Elizabeth, Bush, William, Jaworski, James, Barral, Sandra, DeStefano, Anita, Hamilton-Nelson, Kara, Kunkle, Brian, Martin, Eden R., Naj, Adam, Rajabli, Farid, Reitz, Christiane, Thornton, Timothy, van Duijn, Cornelia, Goate, Allison, Seshadri, Sudha, Farrer, Lindsay A., Boerwinkle, Eric, Schellenberg, Gerard, Haines, Jonathan L., Wijsman, Ellen, Mayeux, Richard, Pericak-Vance, Margaret A., English, Adam, Kalra, Divya, Muzny, Donna, Skinner, Evette, Doddapeneni, Harsha, Dinh, Huyen, Hu, Jianhong, Santibanez, Jireh, Jayaseelan, Joy, Worley, Kim, Bellair, Michelle, Gibbs, Richard A., Lee, Sandra, Dugan-Perez, Shannon, White, Simon, Korchina, Viktoriya, Nasser, Waleed, Salerno, William, Liu, Xiuping, Han, Yi, Zhu, Yiming, Liu, Yue, Khan, Ziad, Cupples, Adrienne, Beiser, Alexa, DeStefanos, Anita, Liu, Ching Ti, Sarnowski, Chloe, Satizabal, Claudia, Lancour, Dan, Patel, Devanshi, Sun, Fangui Jenny, Lin, Honghuang, Chung, Jaeyoon, Farrell, John, Dupuis, Josee, Lunetta, Kathy, Farrer, Lindsay, Seshadri, Sudha, Zhang, Xiaoling, Ma, Yiyi, Chen, Yuning, Banks, Eric, Gupta, Namrata, Choi, Seung Hoan, Gabriel, Stacey, Haines, Jonathan, Butkiewicz, Mariusz, Smieszek, Sandra, Bush, Will, Song, Yeunjoo, Vardarajan, Badri, Reitz, Christiane, Reyes, Dolly, Tosto, Giuseppe, De Jager, Phillip L, Mayeux, Richard, Barral, Sandra, Vanderspek, Ashley, van Duijn, Cornelia, Ikram, M Afran, Amin, Najaf, Amad, Shahzad, van der Lee, Sven, Faber, Kelley, Foroud, Tatiana, Schmidt, Helena, Schmidt, Reinhold, Renton, Alan, Goate, Alison, Marcora, Edoardo, Kapoor, Manav, Stine, Adam, Feolo, Michael, Launer, Lenore J., Bennett, David A, Xia, Li Charlie, Kunkle, Brian, Martin, Eden, Rajabli, Farid, Beecham, Gary, Jaworski, James, Hamilton-Nelson, Kara, Pericak-Vance, Margaret, Schmidt, Michael, Mosley, Thomas H., Kuzma, Amanda, Lin, Han-Jen, Qu, Liming, Wang, Micah Childress, Li-San, Valladares, Otto, Gangadharan, Prabhakaran, Cweibel, Rebecca, Zhao, Yi, Chou, Yi-Fan, Naj, Adam, Mlynarski, Elisabeth, Schellenberg, Gerard, Malamon, John, Cantwell, Laura, Zhang, Nancy, Wang, Weixin, Leung, Yuk Yee, Boerwinkle, Eric, Bressler, Jan, Below, Jennifer E., Fornage, Myriam, Liu, Xiaoming, Jian, Xueqiu, Nato, Alejandro Q, Jr., Horimoto, Andrea R, Wang, Bowen, Psaty, Bruce, Witten, Daniela, Tsuang, Debby, Blue, Elizabeth, Wijsman, Ellen, Sohi, Harkirat, Nguyen, Hiep, Bis, Joshua C., Rice, Kenneth, Brown, Lisa, Dorschner, Michael, Saad, Mohamad, Navas, Pat, Nafikov, Rafael, Thornton, Timothy, Day, Tyler, Cruchaga, Carlos, Koboldt, Daniel C., Larson, David E., Appelbaum, Elizabeth, Waligorski, Jason, Antonacci-Fulton, Lucinda, Wilson, Richard K., and Fulton, Robert S.

Published
2018
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24. Identifying amyloid pathology–related cerebrospinal fluid biomarkers for Alzheimer's disease in a multicohort study

Author

Leung, Yuk Yee, Toledo, Jon B., Nefedov, Alexey, Polikar, Robi, Raghavan, Nandini, Xie, Sharon X., Farnum, Michael, Schultz, Tim, Baek, Young, Van Deerlin, Vivianna M., Hu, William T., Holtzman, David M., Fagan, Anne M., Perrin, Richard J., Grossman, Murray, Soares, Holly D., Kling, Mitchel A., Mailman, Matthew, Arnold, Steven E., Narayan, Vaibhav A., Lee, Virginia M-Y., Shaw, Leslie M., Baker, David, Wittenberg, Gayle M., Trojanowski, John Q., and Wang, Li-San

Published
2015
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25. NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2022 Update

Author

Issen, Heather, primary, Kuzma, Amanda B, additional, Valladares, Otto, additional, Greenfest‐Allen, Emily, additional, Klamann, Conor, additional, Gangadharan, Prabhakaran, additional, Katanic, Zivadin, additional, Wilk, Andrew, additional, Zhao, Yi, additional, Qu, Liming, additional, Moon, Michelle K, additional, Rose, Alexis Lerro, additional, Manuel, Joseph, additional, Keskinen, Peter, additional, Thomas, Carlos, additional, Chou, Shin‐Yi, additional, Lee, Wan‐Ping, additional, Leung, Yuk Yee, additional, Naj, Adam C., additional, Stoeckert, Christian J, additional, Schellenberg, Gerard D., additional, and Wang, Li‐San, additional

Published
2022
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26. A Haptoglobin (HP) Exon Deletion Polymorphism Alters the Effect of APOE Alleles on Alzheimer’s Disease in European‐Descent People with APOEε4

Author

Bai, Haimeng, primary, Naj, Adam C., additional, Leung, Yuk Yee, additional, Wang, Li‐San, additional, Schellenberg, Gerard D., additional, Mayeux, Richard, additional, Pericak‐Vance, Margaret A., additional, Farrer, Lindsay A., additional, Dumitrescu, Logan, additional, Hohman, Timothy J., additional, Kunkle, Brian W., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, and Bush, William S., additional

Published
2022
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27. NIAGADS Alzheimer’s Genomics Database: version GRCh38

Author

Greenfest‐Allen, Emily, primary, Kuksa, Pavel P., additional, Kuzma, Amanda B, additional, Valladares, Otto, additional, Lee, Wan‐Ping, additional, Wheeler, Nicholas R., additional, Bush, William S., additional, Leung, Yuk Yee, additional, Stoeckert, Christian J, additional, and Wang, Li‐San, additional

Published
2022
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28. Rare Genetic Risk in Progressive Supranuclear Palsy

Author

Chang, Timothy, primary, Wang, Hui, additional, Lee, Wan‐Ping, additional, Kumar, Urvashi, additional, Leung, Yuk Yee, additional, Dickson, Dennis W., additional, Dalgard, Clifton L., additional, Wang, Li‐San, additional, Schellenberg, Gerard D., additional, and Geschwind, Daniel H., additional

Published
2022
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29. Spatial Distribution of Rare Missense Variants Within Protein Structures is Associated with AD Risk

Author

Jin, Bowen, primary, Capra, John A, additional, Benchek, Penelope, additional, Wheeler, Nicholas R., additional, Naj, Adam C., additional, Hamilton‐Nelson, Kara L., additional, Farrell, John, additional, Leung, Yuk Yee, additional, Kunkle, Brian W., additional, Vardarajan, Badri N, additional, Schellenberg, Gerard D., additional, Mayeux, Richard, additional, Wang, Li‐San, additional, Farrer, Lindsay A., additional, Pericak‐Vance, Margaret A., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, Crawford, Dana, additional, and Bush, William S., additional

Published
2022
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30. The Alzheimer’s Disease Sequencing Project Follow Up Study (ADSP‐FUS): increasing ethnic diversity in Alzheimer’s disease (AD) genetics research.

Author

Mena, Pedro Ramon, primary, Kunkle, Brian W., additional, Faber, Kelley M., additional, Adams, Larry D., additional, Inciute, Jovita D., additional, Whitehead, Patrice L., additional, Foroud, Tatiana M., additional, Reyes‐Dumeyer, Dolly, additional, Kuzma, Amanda B, additional, Leung, Yuk Yee, additional, Naj, Adam C., additional, Martin, Eden R., additional, Dalgard, Clifton L., additional, Schellenberg, Gerard D., additional, Wang, Li‐San, additional, Mayeux, Richard, additional, Vardarajan, Badri N., additional, Vance, Jeffery M., additional, Cuccaro, Michael L., additional, and Pericak‐Vance, Margaret A., additional

Published
2022
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37. Genome‐wide association and multi‐omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women

Author

Chung, Jaeyoon, primary, Das, Anjali, additional, Sun, Xinyu, additional, Sobreira, Débora R., additional, Leung, Yuk Yee, additional, Igartua, Catherine, additional, Mozaffari, Sahar, additional, Chou, Yi‐Fan, additional, Thiagalingam, Sam, additional, Mez, Jesse, additional, Zhang, Xiaoling, additional, Jun, Gyungah R., additional, Stein, Thor D., additional, Kunkle, Brian W., additional, Martin, Eden R., additional, Pericak‐Vance, Margaret A., additional, Mayeux, Richard, additional, Haines, Jonathan L., additional, Schellenberg, Gerard D., additional, Nobrega, Marcelo A., additional, Lunetta, Kathryn L., additional, Pinto, Jayant M., additional, Wang, Li‐San, additional, Ober, Carole, additional, and Farrer, Lindsay A., additional

Published
2022
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38. Corrigendum: An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns

Author

Jin, Bowen, primary, Capra, John A., additional, Benchek, Penelope, additional, Wheeler, Nicholas, additional, Naj, Adam C., additional, Hamilton-Nelson, Kara L., additional, Farrell, John J., additional, Leung, Yuk Yee, additional, Kunkle, Brian, additional, Vadarajan, Badri, additional, Schellenberg, Gerard D., additional, Mayeux, Richard, additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Pericak-Vance, Margaret A., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, Crawford, Dana C., additional, and Bush, William S., additional

Published
2022
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39. A comparative study of structural variant calling strategies using the Alzheimer’s Disease Sequencing Project’s whole genome family data

Author

Malamon, John S., primary, Farrell, John J., additional, Xia, Li Charlie, additional, Dombroski, Beth A., additional, Lee, Wan-Ping, additional, Das, Rueben G., additional, Vardarajan, Badri N., additional, Way, Jessica, additional, Kuzma, Amanda B., additional, Valladares, Otto, additional, Leung, Yuk Yee, additional, Scanlon, Allison J., additional, Barrera Lopez, Irving Antonio, additional, Brehony, Jack, additional, Worley, Kim C., additional, Zhang, Nancy R., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, and Schellenberg, Gerard D., additional

Published
2022
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40. Alzheimer’s Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer’s Disease

Author

Kuksa, Pavel P., primary, Liu, Chia-Lun, additional, Fu, Wei, additional, Qu, Liming, additional, Zhao, Yi, additional, Katanic, Zivadin, additional, Clark, Kaylyn, additional, Kuzma, Amanda B., additional, Ho, Pei-Chuan, additional, Tzeng, Kai-Teh, additional, Valladares, Otto, additional, Chou, Shin-Yi, additional, Naj, Adam C., additional, Schellenberg, Gerard D., additional, Wang, Li-San, additional, and Leung, Yuk Yee, additional

Published
2022
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41. An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns

Author

Jin, Bowen, primary, Capra, John A., additional, Benchek, Penelope, additional, Wheeler, Nicholas, additional, Naj, Adam C., additional, Hamilton-Nelson, Kara L., additional, Farrell, John J., additional, Leung, Yuk Yee, additional, Kunkle, Brian, additional, Vadarajan, Badri, additional, Schellenberg, Gerard D., additional, Mayeux, Richard, additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Pericak-Vance, Margaret A., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, Crawford, Dana C., additional, and Bush, William S., additional

Published
2022
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43. Genome‐wide association and multi‐omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women.

Author

Chung, Jaeyoon, Das, Anjali, Sun, Xinyu, Sobreira, Débora R., Leung, Yuk Yee, Igartua, Catherine, Mozaffari, Sahar, Chou, Yi‐Fan, Thiagalingam, Sam, Mez, Jesse, Zhang, Xiaoling, Jun, Gyungah R., Stein, Thor D., Kunkle, Brian W., Martin, Eden R., Pericak‐Vance, Margaret A., Mayeux, Richard, Haines, Jonathan L., Schellenberg, Gerard D., and Nobrega, Marcelo A.

Abstract

Introduction: Variants in the tau gene (MAPT) region are associated with breast cancer in women and Alzheimer's disease (AD) among persons lacking apolipoprotein E ε4 (ε4–). Methods: To identify novel genes associated with tau‐related pathology, we conducted two genome‐wide association studies (GWAS) for AD, one among 10,340 ε4– women in the Alzheimer's Disease Genetics Consortium (ADGC) and another in 31 members (22 women) of a consanguineous Hutterite kindred. Results: We identified novel associations of AD with MGMT variants in the ADGC (rs12775171, odds ratio [OR] = 1.4, P = 4.9 × 10–8) and Hutterite (rs12256016 and rs2803456, OR = 2.0, P = 1.9 × 10–14) datasets. Multi‐omics analyses showed that the most significant and largest number of associations among the single nucleotide polymorphisms (SNPs), DNA‐methylated CpGs, MGMT expression, and AD‐related neuropathological traits were observed among women. Furthermore, promoter capture Hi‐C analyses revealed long‐range interactions of the MGMT promoter with MGMT SNPs and CpG sites. Discussion: These findings suggest that epigenetically regulated MGMT expression is involved in AD pathogenesis, especially in women. [ABSTRACT FROM AUTHOR]

Published
2023
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44. Copy Number Variation Identification on 3,800 Alzheimer’s Disease Whole Genome Sequencing Data from the Alzheimer’s Disease Sequencing Project

Author

Lee, Wan-Ping, primary, Tucci, Albert A., additional, Conery, Mitchell, additional, Leung, Yuk Yee, additional, Kuzma, Amanda B., additional, Valladares, Otto, additional, Chou, Yi-Fan, additional, Lu, Wenbin, additional, Wang, Li-San, additional, Schellenberg, Gerard D., additional, and Tzeng, Jung-Ying, additional

Published
2021
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45. Progranulin mutations in clinical and neuropathological Alzheimer's disease.

Author

Vardarajan, Badri N., Reyes‐Dumeyer, Dolly, Piriz, Angel L., Lantigua, Rafael A., Medrano, Martin, Rivera, Diones, Jiménez‐Velázquez, Ivonne Z., Martin, Eden, Pericak‐Vance, Margaret A., Bush, William, Farrer, Lindsay, Haines, Jonathan L., Wang, Li‐San, Leung, Yuk Yee, Schellenberg, Gerard, Kukull, Walter, De Jager, Philip, Bennett, David A., Schneider, Julie A., and Mayeux, Richard

Abstract

Introduction: Progranulin (GRN) mutations occur in frontotemporal lobar degeneration (FTLD) and in Alzheimer's disease (AD), often with TDP‐43 pathology. Methods: We determined the frequency of rs5848 and rare, pathogenic GRN mutations in two autopsy and one family cohort. We compared Braak stage, β‐amyloid load, hyperphosphorylated tau (PHFtau) tangle density and TDP‐43 pathology in GRN carriers and non‐carriers. Results: Pathogenic GRN mutations were more frequent in all cohorts compared to the Genome Aggregation Database (gnomAD), but there was no evidence for association with AD. Pathogenic GRN carriers had significantly higher PHFtau tangle density adjusting for age, sex and APOE ε4 genotype. AD patients with rs5848 had higher frequencies of hippocampal sclerosis and TDP‐43 deposits. Twenty‐two rare, pathogenic GRN variants were observed in the family cohort. Discussion: GRN mutations in clinical and neuropathological AD increase the burden of tau‐related brain pathology but show no specific association with β‐amyloid load or AD. [ABSTRACT FROM AUTHOR]

Published
2022
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46. An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing Studies

Author

Jin, Bowen, primary, Capra, John A., additional, Benchek, Penelope, additional, Wheeler, Nicholas, additional, Naj, Adam C., additional, Hamilton-Nelson, Kara L., additional, Farrell, John J., additional, Leung, Yuk Yee, additional, Kunkle, Brian, additional, Vadarajan, Badri, additional, Schellenberg, Gerard D., additional, Mayeux, Richard, additional, Wang, Li-san, additional, Farrer, Lindsay A., additional, Pericak-Vance, Margaret A., additional, Martin, Eden R., additional, Haines, Jonathan L., additional, Crawford, Dana C., additional, and Bush, William S., additional

Published
2021
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47. Genome-Wide Meta-Analysis of Late-Onset Alzheimer’s Disease Using Rare Variant Imputation in 65,602 Subjects Identifies Novel Rare Variant Locus NCK2: The International Genomics of Alzheimer’s Project (IGAP)

Author

Naj, Adam C., primary, Leonenko, Ganna, additional, Jian, Xueqiu, additional, Grenier-Boley, Benjamin, additional, Dalmasso, Maria Carolina, additional, Bellenguez, Celine, additional, Sha, Jin, additional, Zhao, Yi, additional, van der Lee, Sven J., additional, Sims, Rebecca, additional, Chouraki, Vincent, additional, Bis, Joshua C., additional, Kunkle, Brian W., additional, Holmans, Peter, additional, Leung, Yuk Yee, additional, Farrell, John J., additional, Chesi, Alessandra, additional, Chen, Hung-Hsin, additional, Vardarajan, Badri, additional, Benchek, Penelope, additional, Barral, Sandral, additional, Lee, Chien-Yueh, additional, Kuksa, Pavel, additional, Haut, Jacob, additional, Lee, Edward B., additional, Li, Mingyao, additional, Zhang, Yuanchao, additional, Grant, Struan, additional, Phillips-Cremins, Jennifer E., additional, Comic, Hata, additional, Pitsillides, Achilleas, additional, Xia, Rui, additional, Hamilton-Nelson, Kara L., additional, Kuzma, Amanda, additional, Valladares, Otto, additional, Fulton-Howard, Brian, additional, Dupuis, Josee, additional, Bush, Will S., additional, Wang, Li-San, additional, Below, Jennifer E., additional, Farrer, Lindsay A., additional, van Duijn, Cornelia, additional, Mayeux, Richard, additional, Haines, Jonathan L., additional, DeStefano, Anita L., additional, Pericak-Vance, Margaret A., additional, Ramirez, Alfredo, additional, Seshadri, Sudha, additional, Amouyel, Philippe, additional, Williams, Julie, additional, Lambert, Jean-Charles, additional, and Schellenberg, Gerard D., additional

Published
2021
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48. FILER: large-scale, harmonized FunctIonaL gEnomics Repository

Author

Kuksa, Pavel P., primary, Gangadharan, Prabhakaran, additional, Katanic, Zivadin, additional, Kleidermacher, Lauren, additional, Amlie-Wolf, Alexandre, additional, Lee, Chien-Yueh, additional, Qu, Liming, additional, Greenfest-Allen, Emily, additional, Valladares, Otto, additional, Leung, Yuk Yee, additional, and Wang, Li-San, additional

Published
2021
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