Pulse Brain · Growing Health Evidence Index
Peer-reviewed

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

Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam, Sonia Moreno–Grau, Najaf Amin, Adam C. Naj, Rafael Campos-Martín, Benjamin Grenier‐Boley, Víctor Andrade, Peter Holmans, Anne Boland, Vincent Damotte, Sven J. van der Lee, Marcos R. Costa, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua C. Bis, Amber Yaqub, Ivana Nedeljković, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo García‐González, Carla Abdelnour, Emilio Alarcón‐Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Álvarez, Victoria Álvarez, Nicola J. Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E. Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Merçé Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Luis Ignacio Brusco, Dolores Buiza‐Rueda, Katharina Bürger, Vanessa Burholt, William S. Bush, Miguel Calero, Laura B. Cantwell, Geneviève Chêne, Jaeyoon Chung, Michael L. Cuccaro, Ángel Carracedo, Roberta Cecchetti, Laura Cervera‐Carles, Camille Charbonnier, Hung‐Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A.H.R. Claassen, Christopher Clark, Elisa Conti, Anaïs Corma‐Gómez, Emanuele Maria Costantini, Carlo Custodero, Delphine Daian, Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean‐François Dartigues, Peter Paul De Deyn, Kátia de Paiva Lopes, Lot D. de Witte, Stéphanie Debette, Jürgen Deckert, Teodoro del Ser

Nature Genetics · 2022

Read source ↗ All evidence

Summary

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

Source type
Peer-reviewed study
DOI
10.1038/s41588-022-01024-z
Catalogue ID
SNmohi6g1u-0kfk51
Pulse AI · ask about this record

Dig deeper with Pulse AI.

Pulse AI has read the whole catalogue. Ask about this record, its theme, or how the findings apply to UK farming and policy — every answer cites the underlying studies.