Literature DB >> 35379992

New insights into the genetic etiology of Alzheimer's disease and related dementias.

Céline Bellenguez1, Fahri Küçükali2,3,4, Iris E Jansen5,6, Luca Kleineidam7,8,9, Sonia Moreno-Grau10,11, Najaf Amin12,13, Adam C Naj14,15, Rafael Campos-Martin8, Mikko Hiltunen16, Kristel Sleegers2,3,4, Gerard D Schellenberg15, Cornelia M van Duijn12,13, Rebecca Sims17, Wiesje M van der Flier5, Agustín Ruiz10,11, Alfredo Ramirez7,8,9,18,19, Jean-Charles Lambert20, Benjamin Grenier-Boley21, Victor Andrade7,8, Peter A Holmans17, Anne Boland22, Vincent Damotte21, Sven J van der Lee5,23, Marcos R Costa21,16, Teemu Kuulasmaa24, Qiong Yang25,26, Itziar de Rojas10,11, Joshua C Bis27, Amber Yaqub12, Ivana Prokic12, Julien Chapuis21, Shahzad Ahmad12,28, Vilmantas Giedraitis29, Dag Aarsland30,31, Pablo Garcia-Gonzalez10,11, Carla Abdelnour10,11, Emilio Alarcón-Martín10,32, Daniel Alcolea11,33, Montserrat Alegret10,11, Ignacio Alvarez34,35, Victoria Álvarez36,37, Nicola J Armstrong38, Anthoula Tsolaki39,40, Carmen Antúnez41, Ildebrando Appollonio42,43, Marina Arcaro44, Silvana Archetti45, Alfonso Arias Pastor46,47, Beatrice Arosio48,49, Lavinia Athanasiu50, Henri Bailly51, Nerisa Banaj52, Miquel Baquero53, Sandra Barral54,55,56, Alexa Beiser24,57, Ana Belén Pastor58, Jennifer E Below59, Penelope Benchek60,61, Luisa Benussi62, Claudine Berr63, Céline Besse22, Valentina Bessi64,65, Giuliano Binetti62,66, Alessandra Bizarro67, Rafael Blesa11,33, Mercè Boada10,11, Eric Boerwinkle68,69, Barbara Borroni70, Silvia Boschi71, Paola Bossù72, Geir Bråthen73,74, Jan Bressler68,75, Catherine Bresner17, Henry Brodaty38,76, Keeley J Brookes77, Luis Ignacio Brusco78,79,80, Dolores Buiza-Rueda11,81, Katharina Bûrger82,83, Vanessa Burholt84,85, William S Bush86, Miguel Calero10,58,87, Laura B Cantwell88, Geneviève Chene89,90, Jaeyoon Chung91, Michael L Cuccaro92, Ángel Carracedo93,94, Roberta Cecchetti95, Laura Cervera-Carles11,33, Camille Charbonnier96, Hung-Hsin Chen97, Caterina Chillotti98, Simona Ciccone49, Jurgen A H R Claassen99, Christopher Clark100, Elisa Conti42, Anaïs Corma-Gómez101, Emanuele Costantini102, Carlo Custodero103, Delphine Daian22, Maria Carolina Dalmasso8, Antonio Daniele102, Efthimios Dardiotis104, Jean-François Dartigues105, Peter Paul de Deyn106, Katia de Paiva Lopes107,108,109,110, Lot D de Witte110, Stéphanie Debette105, Jürgen Deckert111, Teodoro Del Ser58, Nicola Denning112, Anita DeStefano24,25,113, Martin Dichgans82,114, Janine Diehl-Schmid115, Mónica Diez-Fairen34,35, Paolo Dionigi Rossi49, Srdjan Djurovic50, Emmanuelle Duron51, Emrah Düzel116,117, Carole Dufouil89,90, Gudny Eiriksdottir118, Sebastiaan Engelborghs119,120,121,122, Valentina Escott-Price15,112, Ana Espinosa10,11, Michael Ewers82,83, Kelley M Faber123, Tagliavini Fabrizio124, Sune Fallgaard Nielsen125, David W Fardo126, Lucia Farotti127, Chiara Fenoglio128, Marta Fernández-Fuertes101, Raffaele Ferrari129,130, Catarina B Ferreira131, Evelyn Ferri49, Bertrand Fin22, Peter Fischer132, Tormod Fladby133, Klaus Fließbach8,9, Bernard Fongang18, Myriam Fornage74,75, Juan Fortea11,33, Tatiana M Foroud123, Silvia Fostinelli62, Nick C Fox134, Emlio Franco-Macías135, María J Bullido11,136,137, Ana Frank-García11,136,138, Lutz Froelich139, Brian Fulton-Howard140, Daniela Galimberti44,128, Jose Maria García-Alberca11,141, Pablo García-González10, Sebastian Garcia-Madrona142, Guillermo Garcia-Ribas142, Roberta Ghidoni62, Ina Giegling143, Giaccone Giorgio124, Alison M Goate140, Oliver Goldhardt115, Duber Gomez-Fonseca144, Antonio González-Pérez145, Caroline Graff146,147, Giulia Grande148, Emma Green149, Timo Grimmer115, Edna Grünblatt150,151,152, Michelle Grunin61, Vilmundur Gudnason153, Tamar Guetta-Baranes154, Annakaisa Haapasalo155, Georgios Hadjigeorgiou156, Jonathan L Haines86, Kara L Hamilton-Nelson157, Harald Hampel158, Olivier Hanon51, John Hardy130, Annette M Hartmann143, Lucrezia Hausner139, Janet Harwood17, Stefanie Heilmann-Heimbach159, Seppo Helisalmi160,161, Michael T Heneka7,9, Isabel Hernández10,11, Martin J Herrmann111, Per Hoffmann159, Clive Holmes162, Henne Holstege5,23, Raquel Huerto Vilas46,47, Marc Hulsman5,23, Jack Humphrey107,108,109,163, Geert Jan Biessels164, Xueqiu Jian18, Charlotte Johansson146, Gyungah R Jun91, Yuriko Kastumata165, John Kauwe166, Patrick G Kehoe167, Lena Kilander25, Anne Kinhult Ståhlbom146, Miia Kivipelto168,169,170,171, Anne Koivisto160,172,173, Johannes Kornhuber174, Mary H Kosmidis175, Walter A Kukull176, Pavel P Kuksa15, Brian W Kunkle156, Amanda B Kuzma88, Carmen Lage11,177, Erika J Laukka148,178, Lenore Launer179,180, Alessandra Lauria67, Chien-Yueh Lee15, Jenni Lehtisalo160,181, Ondrej Lerch182,183, Alberto Lleó11,33, William Longstreth184, Oscar Lopez26, Adolfo Lopez de Munain11,185, Seth Love167, Malin Löwemark25, Lauren Luckcuck17, Kathryn L Lunetta24, Yiyi Ma23,186, Juan Macías101, Catherine A MacLeod187, Wolfgang Maier7,9, Francesca Mangialasche168, Marco Spallazzi55, Marta Marquié10,11, Rachel Marshall17, Eden R Martin157, Angel Martín Montes11,136,138, Carmen Martínez Rodríguez37, Carlo Masullo188, Richard Mayeux54,189, Simon Mead190, Patrizia Mecocci95, Miguel Medina11,58, Alun Meggy112, Shima Mehrabian56, Silvia Mendoza141, Manuel Menéndez-González37, Pablo Mir11,191, Susanne Moebus192, Merel Mol81, Laura Molina-Porcel193,194, Laura Montrreal10, Laura Morelli195, Fermin Moreno11,185, Kevin Morgan196, Thomas Mosley197, Markus M Nöthen159, Carolina Muchnik78,198, Shubhabrata Mukherjee199, Benedetta Nacmias64,200, Tiia Ngandu181, Gael Nicolas96, Børge G Nordestgaard125,201, Robert Olaso22, Adelina Orellana10,11, Michela Orsini102, Gemma Ortega10,11, Alessandro Padovani69, Caffarra Paolo202, Goran Papenberg148, Lucilla Parnetti127, Florence Pasquier203, Pau Pastor34,35, Gina Peloso24,57, Alba Pérez-Cordón10, Jordi Pérez-Tur11,204,205, Pierre Pericard206, Oliver Peters207,208, Yolande A L Pijnenburg5, Juan A Pineda101, Gerard Piñol-Ripoll46,47, Claudia Pisanu209, Thomas Polak111, Julius Popp210,211,212, Danielle Posthuma6, Josef Priller208,213, Raquel Puerta10, Olivier Quenez96, Inés Quintela93, Jesper Qvist Thomassen214, Alberto Rábano11,58, Innocenzo Rainero70, Farid Rajabli157, Inez Ramakers215, Luis M Real101,216, Marcel J T Reinders217, Christiane Reitz189,217,218, Dolly Reyes-Dumeyer186,218, Perry Ridge219, Steffi Riedel-Heller220, Peter Riederer221, Natalia Roberto10, Eloy Rodriguez-Rodriguez11,177, Arvid Rongve222,223, Irene Rosas Allende36,37, Maitée Rosende-Roca10,11, Jose Luis Royo224, Elisa Rubino225, Dan Rujescu143, María Eugenia Sáez145, Paraskevi Sakka226, Ingvild Saltvedt73,227, Ángela Sanabria10,11, María Bernal Sánchez-Arjona135, Florentino Sanchez-Garcia228, Pascual Sánchez Juan11,177, Raquel Sánchez-Valle229, Sigrid B Sando72,73, Chloé Sarnowski68, Claudia L Satizabal25,113,18, Michela Scamosci95, Nikolaos Scarmeas54,230, Elio Scarpini44,128, Philip Scheltens5, Norbert Scherbaum231, Martin Scherer232, Matthias Schmid9,233, Anja Schneider7,9, Jonathan M Schott134, Geir Selbæk133,234, Davide Seripa235, Manuel Serrano236, Jin Sha14, Alexey A Shadrin50, Olivia Skrobot167, Susan Slifer157, Gijsje J L Snijders110, Hilkka Soininen160, Vincenzo Solfrizzi103, Alina Solomon160,168, Yeunjoo Song61, Sandro Sorbi64,200, Oscar Sotolongo-Grau10, Gianfranco Spalletta52, Annika Spottke9,237, Alessio Squassina238, Eystein Stordal239, Juan Pablo Tartan10, Lluís Tárraga10,11, Niccolo Tesí5,23, Anbupalam Thalamuthu38, Tegos Thomas39,40, Giuseppe Tosto54,186, Latchezar Traykov56, Lucio Tremolizzo42,43, Anne Tybjærg-Hansen201,214, Andre Uitterlinden240, Abbe Ullgren146, Ingun Ulstein234, Sergi Valero10,11, Otto Valladares15, Christine Van Broeckhoven2,3,241, Jeffery Vance92, Badri N Vardarajan54, Aad van der Lugt242, Jasper Van Dongen2,3,4, Jeroen van Rooij81,242, John van Swieten81, Rik Vandenberghe243,244, Frans Verhey215, Jean-Sébastien Vidal51, Jonathan Vogelgsang245,246, Martin Vyhnalek182,183, Michael Wagner7,9, David Wallon247, Li-San Wang15, Ruiqi Wang24,25, Leonie Weinhold233, Jens Wiltfang245,248,249, Gill Windle187, Bob Woods187, Mary Yannakoulia250, Habil Zare18, Yi Zhao15, Xiaoling Zhang251, Congcong Zhu251, Miren Zulaica11,252, Lindsay A Farrer24,91,113, Bruce M Psaty26,88,253, Mohsen Ghanbari12, Towfique Raj107,108,109,163, Perminder Sachdev38, Karen Mather38, Frank Jessen7,9, M Arfan Ikram12, Alexandre de Mendonça131, Jakub Hort180,182, Magda Tsolaki39,40, Margaret A Pericak-Vance155, Philippe Amouyel21, Julie Williams17,112, Ruth Frikke-Schmidt201,214, Jordi Clarimon11,33, Jean-François Deleuze22, Giacomina Rossi124, Sudha Seshadri25,113,18, Ole A Andreassen50, Martin Ingelsson29.   

Abstract

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
© 2022. The Author(s).

Entities:  

Mesh:

Substances:

Year:  2022        PMID: 35379992      PMCID: PMC9005347          DOI: 10.1038/s41588-022-01024-z

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   41.307


  92 in total

1.  Anti-TNF-α reduces amyloid plaques and tau phosphorylation and induces CD11c-positive dendritic-like cell in the APP/PS1 transgenic mouse brains.

Authors:  Jian-Quan Shi; Wei Shen; Jun Chen; Bian-Rong Wang; Ling-Ling Zhong; Yin-Wei Zhu; Hai-Qing Zhu; Qiao-Quan Zhang; Ying-Dong Zhang; Jun Xu
Journal:  Brain Res       Date:  2010-10-21       Impact factor: 3.252

2.  H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives.

Authors:  Ronald Yurko; Kathryn Roeder; Bernie Devlin; Max G'Sell
Journal:  Ann Hum Genet       Date:  2020-12-29       Impact factor: 1.670

3.  TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.

Authors:  Thomas F Tropea; Jordan Mak; Michael H Guo; Sharon X Xie; Eunran Suh; Jacqueline Rick; Andrew Siderowf; Daniel Weintraub; Murray Grossman; David Irwin; David A Wolk; John Q Trojanowski; Vivianna Van Deerlin; Alice S Chen-Plotkin
Journal:  Ann Neurol       Date:  2019-06       Impact factor: 10.422

4.  NLRP3 inflammasome activation drives tau pathology.

Authors:  Christina Ising; Carmen Venegas; Shuangshuang Zhang; Hannah Scheiblich; Susanne V Schmidt; Ana Vieira-Saecker; Stephanie Schwartz; Shadi Albasset; Róisín M McManus; Dario Tejera; Angelika Griep; Francesco Santarelli; Frederic Brosseron; Sabine Opitz; James Stunden; Maximilian Merten; Rakez Kayed; Douglas T Golenbock; David Blum; Eicke Latz; Luc Buée; Michael T Heneka
Journal:  Nature       Date:  2019-11-20       Impact factor: 49.962

5.  Integrating single-cell transcriptomic data across different conditions, technologies, and species.

Authors:  Andrew Butler; Paul Hoffman; Peter Smibert; Efthymia Papalexi; Rahul Satija
Journal:  Nat Biotechnol       Date:  2018-04-02       Impact factor: 54.908

6.  The linear ubiquitin assembly complex (LUBAC) is essential for NLRP3 inflammasome activation.

Authors:  Mary A Rodgers; James W Bowman; Hiroaki Fujita; Nicole Orazio; Mude Shi; Qiming Liang; Rina Amatya; Thomas J Kelly; Kazuhiro Iwai; Jenny Ting; Jae U Jung
Journal:  J Exp Med       Date:  2014-06-23       Impact factor: 14.307

7.  Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Authors:  Lu Chen; Bing Ge; Francesco Paolo Casale; Louella Vasquez; Tony Kwan; Diego Garrido-Martín; Stephen Watt; Ying Yan; Kousik Kundu; Simone Ecker; Avik Datta; David Richardson; Frances Burden; Daniel Mead; Alice L Mann; Jose Maria Fernandez; Sophia Rowlston; Steven P Wilder; Samantha Farrow; Xiaojian Shao; John J Lambourne; Adriana Redensek; Cornelis A Albers; Vyacheslav Amstislavskiy; Sofie Ashford; Kim Berentsen; Lorenzo Bomba; Guillaume Bourque; David Bujold; Stephan Busche; Maxime Caron; Shu-Huang Chen; Warren Cheung; Oliver Delaneau; Emmanouil T Dermitzakis; Heather Elding; Irina Colgiu; Frederik O Bagger; Paul Flicek; Ehsan Habibi; Valentina Iotchkova; Eva Janssen-Megens; Bowon Kim; Hans Lehrach; Ernesto Lowy; Amit Mandoli; Filomena Matarese; Matthew T Maurano; John A Morris; Vera Pancaldi; Farzin Pourfarzad; Karola Rehnstrom; Augusto Rendon; Thomas Risch; Nilofar Sharifi; Marie-Michelle Simon; Marc Sultan; Alfonso Valencia; Klaudia Walter; Shuang-Yin Wang; Mattia Frontini; Stylianos E Antonarakis; Laura Clarke; Marie-Laure Yaspo; Stephan Beck; Roderic Guigo; Daniel Rico; Joost H A Martens; Willem H Ouwehand; Taco W Kuijpers; Dirk S Paul; Hendrik G Stunnenberg; Oliver Stegle; Kate Downes; Tomi Pastinen; Nicole Soranzo
Journal:  Cell       Date:  2016-11-17       Impact factor: 41.582

8.  Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

Authors:  Alvaro N Barbeira; Scott P Dickinson; Rodrigo Bonazzola; Jiamao Zheng; Heather E Wheeler; Jason M Torres; Eric S Torstenson; Kaanan P Shah; Tzintzuni Garcia; Todd L Edwards; Eli A Stahl; Laura M Huckins; Dan L Nicolae; Nancy J Cox; Hae Kyung Im
Journal:  Nat Commun       Date:  2018-05-08       Impact factor: 14.919

9.  Expressed fusion gene landscape and its impact in multiple myeloma.

Authors:  A Cleynen; R Szalat; M Kemal Samur; S Robiou du Pont; L Buisson; E Boyle; M L Chretien; K Anderson; S Minvielle; P Moreau; M Attal; G Parmigiani; J Corre; N Munshi; H Avet-Loiseau
Journal:  Nat Commun       Date:  2017-12-01       Impact factor: 14.919

View more
  39 in total

1.  Genetics of the human microglia regulome refines Alzheimer's disease risk loci.

Authors:  Roman Kosoy; John F Fullard; Biao Zeng; Jaroslav Bendl; Pengfei Dong; Samir Rahman; Steven P Kleopoulos; Zhiping Shao; Kiran Girdhar; Jack Humphrey; Katia de Paiva Lopes; Alexander W Charney; Brian H Kopell; Towfique Raj; David Bennett; Christopher P Kellner; Vahram Haroutunian; Gabriel E Hoffman; Panos Roussos
Journal:  Nat Genet       Date:  2022-08-05       Impact factor: 41.307

2.  Identifying candidate genes and drug targets for Alzheimer's disease by an integrative network approach using genetic and brain region-specific proteomic data.

Authors:  Andi Liu; Astrid M Manuel; Yulin Dai; Brisa S Fernandes; Nitesh Enduru; Peilin Jia; Zhongming Zhao
Journal:  Hum Mol Genet       Date:  2022-09-29       Impact factor: 5.121

3.  Frequency of LATE neuropathologic change across the spectrum of Alzheimer's disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts.

Authors:  Peter T Nelson; Carol Brayne; Margaret E Flanagan; Erin L Abner; Sonal Agrawal; Johannes Attems; Rudolph J Castellani; Maria M Corrada; Matthew D Cykowski; Jing Di; Dennis W Dickson; Brittany N Dugger; John F Ervin; Jane Fleming; Jonathan Graff-Radford; Lea T Grinberg; Suvi R K Hokkanen; Sally Hunter; Alifiya Kapasi; Claudia H Kawas; Hannah A D Keage; C Dirk Keene; Mia Kero; David S Knopman; Naomi Kouri; Gabor G Kovacs; Sydney A Labuzan; Eric B Larson; Caitlin S Latimer; Renata E P Leite; Billie J Matchett; Fiona E Matthews; Richard Merrick; Thomas J Montine; Melissa E Murray; Liisa Myllykangas; Sukriti Nag; Ruth S Nelson; Janna H Neltner; Aivi T Nguyen; Ronald C Petersen; Tuomo Polvikoski; R Ross Reichard; Roberta D Rodriguez; Claudia K Suemoto; Shih-Hsiu J Wang; Stephen B Wharton; Lon White; Julie A Schneider
Journal:  Acta Neuropathol       Date:  2022-06-13       Impact factor: 15.887

Review 4.  Genome-wide association studies for Alzheimer's disease: bigger is not always better.

Authors:  Valentina Escott-Price; John Hardy
Journal:  Brain Commun       Date:  2022-05-17

5.  Terminal complement pathway activation drives synaptic loss in Alzheimer's disease models.

Authors:  Sarah M Carpanini; Megan Torvell; Ryan J Bevan; Robert A J Byrne; Nikoleta Daskoulidou; Takashi Saito; Takaomi C Saido; Philip R Taylor; Timothy R Hughes; Wioleta M Zelek; B Paul Morgan
Journal:  Acta Neuropathol Commun       Date:  2022-07-06       Impact factor: 7.578

6.  Editorial: Molecular Role of Lipids in Aging.

Authors:  Dorota Skowronska-Krawczyk; Priyanka Narayan; Peter Tessarz
Journal:  Front Aging       Date:  2022-06-20

7.  Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study.

Authors:  Yanbing Wang; Han Chen; Gina M Peloso; James B Meigs; Alexa S Beiser; Sudha Seshadri; Anita L DeStefano; Josée Dupuis
Journal:  Am J Hum Genet       Date:  2022-03-21       Impact factor: 11.043

8.  Single cell transcriptomic profiling of a neuron-astrocyte assembloid tauopathy model.

Authors:  Hannah Drew Rickner; Lulu Jiang; Rui Hong; Nicholas K O'Neill; Chromewell A Mojica; Benjamin J Snyder; Lushuang Zhang; Dipan Shaw; Maria Medalla; Benjamin Wolozin; Christine S Cheng
Journal:  Nat Commun       Date:  2022-10-21       Impact factor: 17.694

9.  Biomarker Candidates for Alzheimer's Disease Unraveled through In Silico Differential Gene Expression Analysis.

Authors:  Maria-Del-Carmen Silva-Lucero; Jared Rivera-Osorio; Laura Gómez-Virgilio; Gustavo Lopez-Toledo; José Luna-Muñoz; Francisco Montiel-Sosa; Luis O Soto-Rojas; Mar Pacheco-Herrero; Maria-Del-Carmen Cardenas-Aguayo
Journal:  Diagnostics (Basel)       Date:  2022-05-07

Review 10.  Genomics and Functional Genomics of Alzheimer's Disease.

Authors:  M Ilyas Kamboh
Journal:  Neurotherapeutics       Date:  2021-12-21       Impact factor: 6.088

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.