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  1. Article ; Online: A second X chromosome contributes to resilience in a mouse model of Alzheimer's disease.

    Davis, Emily J / Broestl, Lauren / Abdulai-Saiku, Samira / Worden, Kurtresha / Bonham, Luke W / Miñones-Moyano, Elena / Moreno, Arturo J / Wang, Dan / Chang, Kevin / Williams, Gina / Garay, Bayardo I / Lobach, Iryna / Devidze, Nino / Kim, Daniel / Anderson-Bergman, Cliff / Yu, Gui-Qiu / White, Charles C / Harris, Julie A / Miller, Bruce L /
    Bennett, David A / Arnold, Arthur P / De Jager, Phil L / Palop, Jorge J / Panning, Barbara / Yokoyama, Jennifer S / Mucke, Lennart / Dubal, Dena B

    Science translational medicine

    2020  Volume 12, Issue 558

    Abstract: A major sex difference in Alzheimer's disease (AD) is that men with the disease die earlier than do women. In aging and preclinical AD, men also show more cognitive deficits. Here, we show that the X chromosome affects AD-related vulnerability in mice ... ...

    Abstract A major sex difference in Alzheimer's disease (AD) is that men with the disease die earlier than do women. In aging and preclinical AD, men also show more cognitive deficits. Here, we show that the X chromosome affects AD-related vulnerability in mice expressing the human amyloid precursor protein (hAPP), a model of AD. XY-hAPP mice genetically modified to develop testicles or ovaries showed worse mortality and deficits than did XX-hAPP mice with either gonad, indicating a sex chromosome effect. To dissect whether the absence of a second X chromosome or the presence of a Y chromosome conferred a disadvantage on male mice, we varied sex chromosome dosage. With or without a Y chromosome, hAPP mice with one X chromosome showed worse mortality and deficits than did those with two X chromosomes. Thus, adding a second X chromosome conferred resilience to XY males and XO females. In addition, the Y chromosome, its sex-determining region Y gene (
    MeSH term(s) Alzheimer Disease/genetics ; Animals ; Female ; Male ; Mice ; Sex Characteristics ; Testis ; X Chromosome/genetics ; Y Chromosome
    Language English
    Publishing date 2020-08-10
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.aaz5677
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.

    Kunkle, Brian W / Schmidt, Michael / Klein, Hans-Ulrich / Naj, Adam C / Hamilton-Nelson, Kara L / Larson, Eric B / Evans, Denis A / De Jager, Phil L / Crane, Paul K / Buxbaum, Joe D / Ertekin-Taner, Nilufer / Barnes, Lisa L / Fallin, M Daniele / Manly, Jennifer J / Go, Rodney C P / Obisesan, Thomas O / Kamboh, M Ilyas / Bennett, David A / Hall, Kathleen S /
    Goate, Alison M / Foroud, Tatiana M / Martin, Eden R / Wang, Li-Sao / Byrd, Goldie S / Farrer, Lindsay A / Haines, Jonathan L / Schellenberg, Gerard D / Mayeux, Richard / Pericak-Vance, Margaret A / Reitz, Christiane / Graff-Radford, Neill R / Martinez, Izri / Ayodele, Temitope / Logue, Mark W / Cantwell, Laura B / Jean-Francois, Melissa / Kuzma, Amanda B / Adams, L D / Vance, Jeffery M / Cuccaro, Michael L / Chung, Jaeyoon / Mez, Jesse / Lunetta, Kathryn L / Jun, Gyungah R / Lopez, Oscar L / Hendrie, Hugh C / Reiman, Eric M / Kowall, Neil W / Leverenz, James B / Small, Scott A / Levey, Allan I / Golde, Todd E / Saykin, Andrew J / Starks, Takiyah D / Albert, Marilyn S / Hyman, Bradley T / Petersen, Ronald C / Sano, Mary / Wisniewski, Thomas / Vassar, Robert / Kaye, Jeffrey A / Henderson, Victor W / DeCarli, Charles / LaFerla, Frank M / Brewer, James B / Miller, Bruce L / Swerdlow, Russell H / Van Eldik, Linda J / Paulson, Henry L / Trojanowski, John Q / Chui, Helena C / Rosenberg, Roger N / Craft, Suzanne / Grabowski, Thomas J / Asthana, Sanjay / Morris, John C / Strittmatter, Stephen M / Kukull, Walter A

    JAMA neurology

    2020  Volume 78, Issue 1, Page(s) 102–113

    Abstract: Importance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association ... ...

    Abstract Importance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association studies to date have been conducted in non-Hispanic White individuals. In the largest association analyses of Alzheimer disease in African American individuals, ABCA7, TREM2, and an intergenic locus at 5q35 were previously implicated.
    Objective: To identify additional risk loci in African American individuals by increasing the sample size and using the African Genome Resource panel.
    Design, setting, and participants: This genome-wide association meta-analysis used case-control and family-based data sets from the Alzheimer Disease Genetics Consortium. There were multiple recruitment sites throughout the United States that included individuals with Alzheimer disease and controls of African American ancestry. Analysis began October 2018 and ended September 2019.
    Main outcomes and measures: Diagnosis of Alzheimer disease.
    Results: A total of 2784 individuals with Alzheimer disease (1944 female [69.8%]) and 5222 controls (3743 female [71.7%]) were analyzed (mean [SD] age at last evaluation, 74.2 [13.6] years). Associations with 4 novel common loci centered near the intracellular glycoprotein trafficking gene EDEM1 (3p26; P = 8.9 × 10-7), near the immune response gene ALCAM (3q13; P = 9.3 × 10-7), within GPC6 (13q31; P = 4.1 × 10-7), a gene critical for recruitment of glutamatergic receptors to the neuronal membrane, and within VRK3 (19q13.33; P = 3.5 × 10-7), a gene involved in glutamate neurotoxicity, were identified. In addition, several loci associated with rare variants, including a genome-wide significant intergenic locus near IGF1R at 15q26 (P = 1.7 × 10-9) and 6 additional loci with suggestive significance (P ≤ 5 × 10-7) such as API5 at 11p12 (P = 8.8 × 10-8) and RBFOX1 at 16p13 (P = 5.4 × 10-7) were identified. Gene expression data from brain tissue demonstrate association of ALCAM, ARAP1, GPC6, and RBFOX1 with brain β-amyloid load. Of 25 known loci associated with Alzheimer disease in non-Hispanic White individuals, only APOE, ABCA7, TREM2, BIN1, CD2AP, FERMT2, and WWOX were implicated at a nominal significance level or stronger in African American individuals. Pathway analyses strongly support the notion that immunity, lipid processing, and intracellular trafficking pathways underlying Alzheimer disease in African American individuals overlap with those observed in non-Hispanic White individuals. A new pathway emerging from these analyses is the kidney system, suggesting a novel mechanism for Alzheimer disease that needs further exploration.
    Conclusions and relevance: While the major pathways involved in Alzheimer disease etiology in African American individuals are similar to those in non-Hispanic White individuals, the disease-associated loci within these pathways differ.
    MeSH term(s) Black or African American/genetics ; Aged ; Alzheimer Disease/genetics ; Female ; Genetic Loci ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged
    Language English
    Publishing date 2020-10-13
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2020.3536
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Stroke genetics informs drug discovery and risk prediction across ancestries.

    Mishra, Aniket / Malik, Rainer / Hachiya, Tsuyoshi / Jürgenson, Tuuli / Namba, Shinichi / Posner, Daniel C / Kamanu, Frederick K / Koido, Masaru / Le Grand, Quentin / Shi, Mingyang / He, Yunye / Georgakis, Marios K / Caro, Ilana / Krebs, Kristi / Liaw, Yi-Ching / Vaura, Felix C / Lin, Kuang / Winsvold, Bendik Slagsvold / Srinivasasainagendra, Vinodh /
    Parodi, Livia / Bae, Hee-Joon / Chauhan, Ganesh / Chong, Michael R / Tomppo, Liisa / Akinyemi, Rufus / Roshchupkin, Gennady V / Habib, Naomi / Jee, Yon Ho / Thomassen, Jesper Qvist / Abedi, Vida / Cárcel-Márquez, Jara / Nygaard, Marianne / Leonard, Hampton L / Yang, Chaojie / Yonova-Doing, Ekaterina / Knol, Maria J / Lewis, Adam J / Judy, Renae L / Ago, Tetsuro / Amouyel, Philippe / Armstrong, Nicole D / Bakker, Mark K / Bartz, Traci M / Bennett, David A / Bis, Joshua C / Bordes, Constance / Børte, Sigrid / Cain, Anael / Ridker, Paul M / Cho, Kelly / Chen, Zhengming / Cruchaga, Carlos / Cole, John W / de Jager, Phil L / de Cid, Rafael / Endres, Matthias / Ferreira, Leslie E / Geerlings, Mirjam I / Gasca, Natalie C / Gudnason, Vilmundur / Hata, Jun / He, Jing / Heath, Alicia K / Ho, Yuk-Lam / Havulinna, Aki S / Hopewell, Jemma C / Hyacinth, Hyacinth I / Inouye, Michael / Jacob, Mina A / Jeon, Christina E / Jern, Christina / Kamouchi, Masahiro / Keene, Keith L / Kitazono, Takanari / Kittner, Steven J / Konuma, Takahiro / Kumar, Amit / Lacaze, Paul / Launer, Lenore J / Lee, Keon-Joo / Lepik, Kaido / Li, Jiang / Li, Liming / Manichaikul, Ani / Markus, Hugh S / Marston, Nicholas A / Meitinger, Thomas / Mitchell, Braxton D / Montellano, Felipe A / Morisaki, Takayuki / Mosley, Thomas H / Nalls, Mike A / Nordestgaard, Børge G / O'Donnell, Martin J / Okada, Yukinori / Onland-Moret, N Charlotte / Ovbiagele, Bruce / Peters, Annette / Psaty, Bruce M / Rich, Stephen S / Rosand, Jonathan / Sabatine, Marc S / Sacco, Ralph L / Saleheen, Danish / Sandset, Else Charlotte / Salomaa, Veikko / Sargurupremraj, Muralidharan / Sasaki, Makoto / Satizabal, Claudia L / Schmidt, Carsten O / Shimizu, Atsushi / Smith, Nicholas L / Sloane, Kelly L / Sutoh, Yoichi / Sun, Yan V / Tanno, Kozo / Tiedt, Steffen / Tatlisumak, Turgut / Torres-Aguila, Nuria P / Tiwari, Hemant K / Trégouët, David-Alexandre / Trompet, Stella / Tuladhar, Anil Man / Tybjærg-Hansen, Anne / van Vugt, Marion / Vibo, Riina / Verma, Shefali S / Wiggins, Kerri L / Wennberg, Patrik / Woo, Daniel / Wilson, Peter W F / Xu, Huichun / Yang, Qiong / Yoon, Kyungheon / Millwood, Iona Y / Gieger, Christian / Ninomiya, Toshiharu / Grabe, Hans J / Jukema, J Wouter / Rissanen, Ina L / Strbian, Daniel / Kim, Young Jin / Chen, Pei-Hsin / Mayerhofer, Ernst / Howson, Joanna M M / Irvin, Marguerite R / Adams, Hieab / Wassertheil-Smoller, Sylvia / Christensen, Kaare / Ikram, Mohammad A / Rundek, Tatjana / Worrall, Bradford B / Lathrop, G Mark / Riaz, Moeen / Simonsick, Eleanor M / Kõrv, Janika / França, Paulo H C / Zand, Ramin / Prasad, Kameshwar / Frikke-Schmidt, Ruth / de Leeuw, Frank-Erik / Liman, Thomas / Haeusler, Karl Georg / Ruigrok, Ynte M / Heuschmann, Peter Ulrich / Longstreth, W T / Jung, Keum Ji / Bastarache, Lisa / Paré, Guillaume / Damrauer, Scott M / Chasman, Daniel I / Rotter, Jerome I / Anderson, Christopher D / Zwart, John-Anker / Niiranen, Teemu J / Fornage, Myriam / Liaw, Yung-Po / Seshadri, Sudha / Fernández-Cadenas, Israel / Walters, Robin G / Ruff, Christian T / Owolabi, Mayowa O / Huffman, Jennifer E / Milani, Lili / Kamatani, Yoichiro / Dichgans, Martin / Debette, Stephanie

    Nature

    2022  Volume 611, Issue 7934, Page(s) 115–123

    Abstract: Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ... ...

    Abstract Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry
    MeSH term(s) Humans ; Brain Ischemia/genetics ; Drug Discovery ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Ischemic Stroke/genetics ; Molecular Targeted Therapy ; Multifactorial Inheritance ; Europe/ethnology ; Asia, Eastern/ethnology ; Africa/ethnology
    Language English
    Publishing date 2022-09-30
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-022-05165-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries.

    Mishra, Aniket / Malik, Rainer / Hachiya, Tsuyoshi / Jürgenson, Tuuli / Namba, Shinichi / Posner, Daniel C / Kamanu, Frederick K / Koido, Masaru / Le Grand, Quentin / Shi, Mingyang / He, Yunye / Georgakis, Marios K / Caro, Ilana / Krebs, Kristi / Liaw, Yi-Ching / Vaura, Felix C / Lin, Kuang / Winsvold, Bendik Slagsvold / Srinivasasainagendra, Vinodh /
    Parodi, Livia / Bae, Hee-Joon / Chauhan, Ganesh / Chong, Michael R / Tomppo, Liisa / Akinyemi, Rufus / Roshchupkin, Gennady V / Habib, Naomi / Jee, Yon Ho / Thomassen, Jesper Qvist / Abedi, Vida / Cárcel-Márquez, Jara / Nygaard, Marianne / Leonard, Hampton L / Yang, Chaojie / Yonova-Doing, Ekaterina / Knol, Maria J / Lewis, Adam J / Judy, Renae L / Ago, Tetsuro / Amouyel, Philippe / Armstrong, Nicole D / Bakker, Mark K / Bartz, Traci M / Bennett, David A / Bis, Joshua C / Bordes, Constance / Børte, Sigrid / Cain, Anael / Ridker, Paul M / Cho, Kelly / Chen, Zhengming / Cruchaga, Carlos / Cole, John W / de Jager, Phil L / de Cid, Rafael / Endres, Matthias / Ferreira, Leslie E / Geerlings, Mirjam I / Gasca, Natalie C / Gudnason, Vilmundur / Hata, Jun / He, Jing / Heath, Alicia K / Ho, Yuk-Lam / Havulinna, Aki S / Hopewell, Jemma C / Hyacinth, Hyacinth I / Inouye, Michael / Jacob, Mina A / Jeon, Christina E / Jern, Christina / Kamouchi, Masahiro / Keene, Keith L / Kitazono, Takanari / Kittner, Steven J / Konuma, Takahiro / Kumar, Amit / Lacaze, Paul / Launer, Lenore J / Lee, Keon-Joo / Lepik, Kaido / Li, Jiang / Li, Liming / Manichaikul, Ani / Markus, Hugh S / Marston, Nicholas A / Meitinger, Thomas / Mitchell, Braxton D / Montellano, Felipe A / Morisaki, Takayuki / Mosley, Thomas H / Nalls, Mike A / Nordestgaard, Børge G / O'Donnell, Martin J / Okada, Yukinori / Onland-Moret, N Charlotte / Ovbiagele, Bruce / Peters, Annette / Psaty, Bruce M / Rich, Stephen S / Rosand, Jonathan / Sabatine, Marc S / Sacco, Ralph L / Saleheen, Danish / Sandset, Else Charlotte / Salomaa, Veikko / Sargurupremraj, Muralidharan / Sasaki, Makoto / Satizabal, Claudia L / Schmidt, Carsten O / Shimizu, Atsushi / Smith, Nicholas L / Sloane, Kelly L / Sutoh, Yoichi / Sun, Yan V / Tanno, Kozo / Tiedt, Steffen / Tatlisumak, Turgut / Torres-Aguila, Nuria P / Tiwari, Hemant K / Trégouët, David-Alexandre / Trompet, Stella / Tuladhar, Anil Man / Tybjærg-Hansen, Anne / van Vugt, Marion / Vibo, Riina / Verma, Shefali S / Wiggins, Kerri L / Wennberg, Patrik / Woo, Daniel / Wilson, Peter W F / Xu, Huichun / Yang, Qiong / Yoon, Kyungheon / Millwood, Iona Y / Gieger, Christian / Ninomiya, Toshiharu / Grabe, Hans J / Jukema, J Wouter / Rissanen, Ina L / Strbian, Daniel / Kim, Young Jin / Chen, Pei-Hsin / Mayerhofer, Ernst / Howson, Joanna M M / Irvin, Marguerite R / Adams, Hieab / Wassertheil-Smoller, Sylvia / Christensen, Kaare / Ikram, Mohammad A / Rundek, Tatjana / Worrall, Bradford B / Lathrop, G Mark / Riaz, Moeen / Simonsick, Eleanor M / Kõrv, Janika / França, Paulo H C / Zand, Ramin / Prasad, Kameshwar / Frikke-Schmidt, Ruth / de Leeuw, Frank-Erik / Liman, Thomas / Haeusler, Karl Georg / Ruigrok, Ynte M / Heuschmann, Peter Ulrich / Longstreth, W T / Jung, Keum Ji / Bastarache, Lisa / Paré, Guillaume / Damrauer, Scott M / Chasman, Daniel I / Rotter, Jerome I / Anderson, Christopher D / Zwart, John-Anker / Niiranen, Teemu J / Fornage, Myriam / Liaw, Yung-Po / Seshadri, Sudha / Fernández-Cadenas, Israel / Walters, Robin G / Ruff, Christian T / Owolabi, Mayowa O / Huffman, Jennifer E / Milani, Lili / Kamatani, Yoichiro / Dichgans, Martin / Debette, Stephanie

    Nature

    2022  Volume 612, Issue 7938, Page(s) E7

    Language English
    Publishing date 2022-11-14
    Publishing country England
    Document type Published Erratum
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-022-05492-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

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

    Nature genetics

    2019  Volume 51, Issue 3, Page(s) 414–430

    Abstract: Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We ... ...

    Abstract Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer's or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer's disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P = 1.32 × 10
    MeSH term(s) Aged ; Alzheimer Disease/genetics ; Amyloid beta-Peptides/genetics ; Case-Control Studies ; Female ; Genetic Loci/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Genome-Wide Association Study/methods ; Haplotypes/genetics ; Humans ; Immunity/genetics ; Lipid Metabolism/genetics ; Lipids/genetics ; Male ; tau Proteins/genetics
    Chemical Substances Amyloid beta-Peptides ; Lipids ; tau Proteins
    Language English
    Publishing date 2019-02-28
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0358-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

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

    Nature genetics

    2019  Volume 51, Issue 9, Page(s) 1423–1424

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Language English
    Publishing date 2019-10-25
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0495-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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