Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

ARUK Consortium, Sims, Rebecca, GERAD/PERADES, CHARGE, ADGC, EADI, van der Lee, Sven J, Naj, Adam C, Bellenguez, Céline, Badarinarayan, Nandini, Jakobsdottir, Johanna, Kunkle, Brian W, Boland, Anne, Raybould, Rachel, Bis, Joshua C, Martin, Eden R, Grenier-Boley, Benjamin, Heilmann-Heimbach, Stefanie, Chouraki, Vincent, Kuzma, Amanda B, Sleegers, Kristel, Vronskaya, Maria, Ruiz, Agustin, Graham, Robert R, Olaso, Robert, Hoffmann, Per, Grove, Megan L, Vardarajan, Badri N, Hiltunen, Mikko, Nöthen, Markus M, White, Charles C, Hamilton-Nelson, Kara L, Epelbaum, Jacques, Maier, Wolfgang, Choi, Seung-Hoan, Beecham, Gary W, Dulary, Cécile, Herms, Stefan, Smith, Albert V, Funk, Cory C, Derbois, Céline, Forstner, Andreas J, Ahmad, Shahzad, Li, Hongdong, Bacq, Delphine, Harold, Denise, Satizabal, Claudia L, Valladares, Otto, Squassina, Alessio, Thomas, Rhodri, Brody, Jennifer A, Qu, Liming, Sánchez-Juan, Pascual, Morgan, Taniesha, Wolters, Frank J, Zhao, Yi, Garcia, Florentino Sanchez, Denning, Nicola, Fornage, Myriam, Malamon, John, Naranjo, Maria Candida Deniz, Majounie, Elisa, Mosley, Thomas H, Dombroski, Beth, Wallon, David, Lupton, Michelle K, Dupuis, Josée, Whitehead, Patrice, Fratiglioni, Laura, Medway, Christopher, Jian, Xueqiu, Mukherjee, Shubhabrata, Keller, Lina, Brown, Kristelle, Lin, Honghuang, Cantwell, Laura B, Panza, Francesco, McGuinness, Bernadette, Moreno-Grau, Sonia, Burgess, Jeremy D, Solfrizzi, Vincenzo, Proitsi, Petra, Adams, Hieab H, Allen, Mariet, Seripa, Davide, Pastor, Pau, Cupples, L Adrienne, Price, Nathan D, Hannequin, Didier, Frank-García, Ana, Levy, Daniel, Chakrabarty, Paramita, Caffarra, Paolo, Giegling, Ina, Beiser, Alexa S, Giedraitis, Vilmantas, Hampel, Harald, Garcia, Melissa E, Wang, Xue, Lannfelt, Lars, Mecocci, Patrizia, Eiriksdottir, Gudny, Crane, Paul K, Pasquier, Florence, Boccardi, Virginia, Henández, Isabel, Barber, Robert C, Scherer, Martin, Tarraga, Lluis, Adams, Perrie M, Leber, Markus, Chen, Yuning, Albert, Marilyn S, Riedel-Heller, Steffi, Emilsson, Valur, Beekly, Duane, Braae, Anne, Schmidt, Reinhold, Blacker, Deborah, Masullo, Carlo, Schmidt, Helena, Doody, Rachelle S, Spalletta, Gianfranco, Jr, W T Longstreth, Fairchild, Thomas J, Bossù, Paola, Lopez, Oscar L, Frosch, Matthew P, Sacchinelli, Eleonora, Ghetti, Bernardino, Yang, Qiong, Huebinger, Ryan M, Jessen, Frank, Li, Shuo, Kamboh, M Ilyas, Morris, John, Sotolongo-Grau, Oscar, Katz, Mindy J, Corcoran, Chris, Dunstan, Melanie, Braddel, Amy, Thomas, Charlene, Meggy, Alun, Marshall, Rachel, Gerrish, Amy, Chapman, Jade, Aguilar, Miquel, Taylor, Sarah, Hill, Matt, Fairén, Mònica Díez, Hodges, Angela, Vellas, Bruno, Soininen, Hilkka, Kloszewska, Iwona, Daniilidou, Makrina, Uphill, James, Patel, Yogen, Hughes, Joseph T, Lord, Jenny, Turton, James, Hartmann, Annette M, Cecchetti, Roberta, Fenoglio, Chiara, Serpente, Maria, Arcaro, Marina, Caltagirone, Carlo, Orfei, Maria Donata, Ciaramella, Antonio, Pichler, Sabrina, Mayhaus, Manuel, Gu, Wei, Lleó, Alberto, Fortea, Juan, Blesa, Rafael, Barber, Imelda S, Brookes, Keeley, Cupidi, Chiara, Maletta, Raffaele Giovanni, Carrell, David, Sorbi, Sandro, Moebus, Susanne, Urbano, Maria, Pilotto, Alberto, Kornhuber, Johannes, Bosco, Paolo, Todd, Stephen, Craig, David, Johnston, Janet, Gill, Michael, Lawlor, Brian, Lynch, Aoibhinn, Fox, Nick C, Hardy, John, Albin, Roger L, Apostolova, Liana G, Arnold, Steven E, Asthana, Sanjay, Atwood, Craig S, Baldwin, Clinton T, Barnes, Lisa L, Barral, Sandra, Beach, Thomas G, Becker, James T, Bigio, Eileen H, Bird, Thomas D, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Burke, James R, Burns, Jeffrey M, Buxbaum, Joseph D, Cairns, Nigel J, Cao, Chuanhai, Carlson, Chris S, Carlsson, Cynthia M, Carney, Regina M, Carrasquillo, Minerva M, Carroll, Steven L, Diaz, Carolina Ceballos, Chui, Helena C, Clark, David G, Cribbs, David H, Crocco, Elizabeth A, DeCarli, Charles, Dick, Malcolm, Duara, Ranjan, Evans, Denis A, Faber, Kelley M, Fallon, Kenneth B, Fardo, David W, Farlow, Martin R, Ferris, Steven, Foroud, Tatiana M, Galasko, Douglas R, Gearing, Marla, Geschwind, Daniel H, Gilbert, John R, Graff-Radford, Neill R, Green, Robert C, Growdon, John H, Hamilton, Ronald L, Harrell, Lindy E, Honig, Lawrence S, Huentelman, Matthew J, Hulette, Christine M, Hyman, Bradley T, Jarvik, Gail P, Abner, Erin, Jin, Lee-Way, Jun, Gyungah, Karydas, Anna, Kaye, Jeffrey A, Kim, Ronald, Kowall, Neil W, Kramer, Joel H, LaFerla, Frank M, Lah, James J, Leverenz, James B, Levey, Allan I, Li, Ge, Lieberman, Andrew P, Lunetta, Kathryn L, Lyketsos, Constantine G, 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, Paulson, Henry L, Perry, William, Peskind, Elaine, Pierce, Aimee, Poon, Wayne W, Potter, Huntington, Quinn, Joseph F, Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reitz, Christiane, Ringman, John M, Roberson, Erik D, Rogaeva, Ekaterina, Rosen, Howard J, Rosenberg, Roger N, Sager, Mark A, Saykin, Andrew J, 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, 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, Garzia, Fabienne, Golamaully, Feroze, Septier, Gislain, Engelborghs, Sebastien, Vandenberghe, Rik, De Deyn, Peter P, Fernadez, Carmen Muñoz, Benito, Yoland Aladro, Thonberg, Hakan, Forsell, Charlotte, Lilius, Lena, Kinhult-Stählbom, Anne, Kilander, Lena, Brundin, RoseMarie, Concari, Letizia, Helisalmi, Seppo, Koivisto, Anne Maria, Haapasalo, Annakaisa, Dermecourt, Vincent, Fievet, Nathalie, Hanon, Olivier, Dufouil, Carole, Brice, Alexis, Ritchie, Karen, Dubois, Bruno, Himali, Jayanadra J, Keene, C Dirk, Tschanz, JoAnn, Fitzpatrick, Annette L, Kukull, Walter A, Norton, Maria, Aspelund, Thor, Larson, Eric B, Munger, Ron, Rotter, Jerome I, Lipton, Richard B, Bullido, María J, Hofman, Albert, Montine, Thomas J, Coto, Eliecer, Boerwinkle, Eric, Petersen, Ronald C, Alvarez, Victoria, Rivadeneira, Fernando, Reiman, Eric M, Gallo, Maura, O'Donnell, Christopher J, Reisch, Joan S, Bruni, Amalia Cecilia, Royall, Donald R, Dichgans, Martin, Sano, Mary, Galimberti, Daniela, St George-Hyslop, Peter, Scarpini, Elio, Tsuang, Debby W, Mancuso, Michelangelo, Bonuccelli, Ubaldo, Winslow, Ashley R, Daniele, Antonio, Wu, Chuang-Kuo, Peters, Oliver, Nacmias, Benedetta, Riemenschneider, Matthias, Heun, Reinhard, Brayne, Carol, Rubinsztein, David C, Bras, Jose, Guerreiro, Rita, Al-Chalabi, Ammar, Shaw, Christopher E, Collinge, John, Mann, David, Tsolaki, Magda, Clarimón, Jordi, Sussams, Rebecca, Lovestone, Simon, O'Donovan, Michael C, Owen, Michael J, Behrens, Timothy W, Mead, Simon, Goate, Alison M, Uitterlinden, Andre G, Holmes, Clive, Cruchaga, Carlos, Ingelsson, Martin, Bennett, David A, Powell, John, Golde, Todd E, Graff, Caroline, De Jager, Philip L, Morgan, Kevin, Ertekin-Taner, Nilufer, Combarros, Onofre, Psaty, Bruce M, Passmore, Peter, Younkin, Steven G, Berr, Claudine, Gudnason, Vilmundur, Rujescu, Dan, Dickson, Dennis W, Dartigues, Jean-François, DeStefano, Anita L, Ortega-Cubero, Sara, Hakonarson, Hakon, Campion, Dominique, Boada, Merce, Kauwe, John Keoni, Farrer, Lindsay A, Van Broeckhoven, Christine, Ikram, M Arfan, Jones, Lesley, Haines, Jonathan L, Tzourio, Christophe, Launer, Lenore J, Escott-Price, Valentina, Mayeux, Richard, Deleuze, Jean-François, Amin, Najaf, Holmans, Peter A, Pericak-Vance, Margaret A, Amouyel, Philippe, van Duijn, Cornelia M, Ramirez, Alfredo, Wang, Li-San, Lambert, Jean-Charles, Seshadri, Sudha, Williams, Julie, Schellenberg, Gerard D·2017·Nature Genetics
DOI 10.1038/ng.3916

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  72. A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer’s disease
    Maria Celeste Gaurón, Dmitry Prokopenko, Sanghun Lee, Sarah A. Wolfe, Julian Hecker, Julian Willett, Mohammad Waqas, Gema Lordén, Yimin Yang, Joshua E. Mayfield et al. · 2025 · Science Signaling
  73. Genetics Information with Functional Brain Networks for Dementia Classification
    Uttam Khatri, Ji‐In Kim, Goo‐Rak Kwon · 2023 · Mathematics
  74. MOSTWAS: Multi-Omic Strategies for Transcriptome-Wide Association Studies
    2020
  75. Large-Scale Population-Based Studies of Blood Metabolome and Brain Health
    Zdenka Pausová, Eeva Sliz · 2024 · Current topics in behavioral neurosciences
  76. Navigating the blurred boundary: Neuropathologic changes versus clinical symptoms in Alzheimer’s disease, and its consequences for research in genetics
    Catarina Xavier, Nádia Pinto · 2025 · Journal of Alzheimer s Disease
  77. The Radiogenomics of Late-onset Alzheimer Disease
    Luke W. Bonham, Daniel W. Sirkis, Christopher Paul Hess, Leo P. Sugrue, Jennifer S. Yokoyama · 2019 · Topics in Magnetic Resonance Imaging
  78. The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function – Insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation
    Bull, Daniel, Matte, Julie C., Navarron, Carmen M., McIntyre, Rebecca, Whiting, Paul, Katan, Matilda, Ducotterd, Fiona, Magno, Lorenza · 2024 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  79. Estimating cell-type-specific gene co-expression networks from bulk gene expression data with an application to Alzheimer’s disease
    2021
  80. Purinergic exposure induces epigenomic and transcriptomic-mediated preconditioning resembling epilepsy-associated microglial states
    Ricardo Martins-Ferreira, Josep Calafell-Segura, João Chaves, Laura Ciudad, António Martins da Silva, Paulo Costa, Bárbara Leal, Esteban Ballestar · 2024 · iScience
  81. The Alzheimer’s disease-associated protective Plcγ2 -P522R variant promotes beneficial microglial functions
    Mari Takalo, Rebekka Wittrahm, Benedikt Wefers, Samira Parhizkar, Kimmo T. Jokivarsi, Teemu Kuulasmaa, Petra M. Mäkinen, Henna Martiskainen, Wolfgang Wurst, Xianyuan Xiang et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  82. Deep learning assisted quantitative analysis of Aβ and microglia in patients with idiopathic normal pressure hydrocephalus in relation to cognitive outcome
    Antti Johannes Luikku, Ossi Nerg, Anne Maria Koivisto, Tuomo Hänninen, Antti Junkkari, Susanna Kemppainen, Sini-Pauliina Juopperi, Rosa Sinisalo, Alli Pesola, Hilkka Soininen et al. · 2024 · Journal of Neuropathology & Experimental Neurology
  83. Decoding the genomic symphony: unravelling brain disorders through data integration and machine learning
    Matthew Bracher‐Smith, Valentina Escott‐Price · 2025 · Molecular Psychiatry
  84. A Network-based Deep Learning Framework Catalyzes GWAS and Multi-Omics Findings to Biology and Drug Repurposing for Alzheimer’s Disease
    Jielin Xu, Yuan Hou, Yadi Zhou, Ming Hu, Feixiong Cheng · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  85. PLCG2 as a Risk Factor for Alzheimer's Disease
    Andy Po‐Yi Tsai, Chuanpeng Dong, Christoph Preuß, Miguel Moutinho, Peter Bor‐Chian Lin, Nicole Hajicek, John Sondek, Stephanie J. Bissel, Adrian L. Oblak, Gregory W. Carter et al. · 2020
  86. Is APOE ε4 required for Alzheimer's disease to develop in TREM 2 p.R47H variant carriers?
    Rita João Guerreiro, Tatiana Orme, Adam Christian Naj, Amanda B Kuzma, Gerard D. Schellenberg, José Brás · 2018 · Neuropathology and Applied Neurobiology
  87. BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr 348 phosphorylation
    Sartori, Maxime, Mendes, Tiago, Desai, Shruti, Lasorsa, Alessia, Herledan, Adrien, Malmanche, Nicolas, Mäkinen, Petra, Marttinen, Mikael, Malki, Idir, Chapuis, Julien et al. · 2018
  88. CD33 and clusterin interact biophysically and genetically to modulate Alzheimer risk
    Roger B. Dodd, Masahiro Enomoto, Ye Zhou, Kanayo Satoh, Yalun Zhang, Fusheng Chen, Beatrice Acheson, Deniz Ghaffari, Elizabeth Sayn-Wittgenstein, Jamie J. Manning et al. · 2026 · Nature Communications
  89. Variant-to-function mapping of late-onset Alzheimer’s disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus
    Burton, Elizabeth A., Argenziano, Mariana, Cook, Kieona, Ridler, Molly, Lu, Sumei, Su, Chun, Manduchi, Elisabetta, Littleton, Sheridan H., Leonard, Michelle E., Hodge, Kenyaita M. et al. · 2024
  90. ECSIT prevents Alzheimer’s disease pathology by regulating neuronal mitochondrial ROS and mitophagy
    Alice Lepelley, Lauren S. Vaughn, Agnieszka Staniszewski, Hong Zhang, Fang Du, Peter Koppensteiner, Zeljko Tomljanovic, Flávia Raquel Gonçalves Carneiro, Andrew F. Teich, Ipe Ninan et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  91. Alterations in the brain lipidome of Alzheimer's disease donors with rare TREM2 risk variants
    Petroula Proitsi, Amera Ebshiana, Asger Wretlind, Jin Xu, Angela Hodges, Cristina Legido‐Quigley · 2026 · Brain Communications
  92. A novel micellular fluorogenic substrate for quantitating the activity of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma (PLCγ) enzymes
    Ramya Visvanathan, Tadanobu Utsuki, Daniel E. Beck, Brent Clayton, Emma K. Lendy, Kuai-lin Sun, Yinghui Liu, Kirk W. Hering, Andrew D. Mesecar, Zhong‐Yin Zhang et al. · 2024 · PLoS ONE
  93. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer’s disease and three causality networks of AD: the GR@ACE project
    2019
  94. Sex-specific deubiquitylation drives immune-related neurodegeneration in Drosophila
    Jingnu Xia, Adán Pinto-Fernández, Andreas Damianou, J Lee, Benedikt Mathias Kessler, Ilan Davis, P.R. Elliott, Petros Ligoxygakis · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  95. A novel fluorogenic reporter substrate for 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCγ2): Application to high-throughput screening for activators to treat Alzheimer's disease
    Ramya Visvanathan, Tadanobu Utsuki, Daniel E. Beck, Emma K. Lendy, Kuai-lin Sun, Yinghui Liu, Kirk W. Hering, Andrew D. Mesecar, Zhong‐Yin Zhang, Karson S. Putt · 2023 · SLAS DISCOVERY
  96. Microfluidics-free single-cell genomics reveals complex central-peripheral immune crosstalk in the mouse brain during peripheral inflammation
    Jake Sondag Boles, Oihane Uriarte Huarte, Malú G. Tansey · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  97. Tensor Decomposition of Stimulated Monocyte and Macrophage Gene Expression Profiles Identifies Neurodegenerative Disease-specific Trans -eQTLs
    2018
  98. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases
    2022
  99. Porphyromonas gingivalis induces neuroinflammation in a gingipain-dependent manner in zebrafish larvae
    Magdalena Widziołek, Anna Mieszkowska, Magdalena Marcinkowska, Aleksandra Domagalska, Maria Zawisza, Zbigniew Sołtys, Jan Potempa, Magdalena Chadzińska · 2025 · Brain Behavior and Immunity
  100. Integrated genomic analysis and CRISPRi implicates EGFR in Alzheimer’s disease risk
    Yuk Yee Leung, Pavel P. Kuksa, Luke Carter, Jeffrey Cifello, Emily Greenfest‐Allen, Otto Valladares, Louisa Boateng, Shannon Laub, Natalia M. Tulina, Sofia Moura et al. · 2025 · npj Dementia