%0 Journal Article
%A Le Borgne, Julie
%A Gomez, Lissette
%A Heikkinen, Sami
%A Amin, Najaf
%A Ahmad, Shahzad
%A Choi, Seung Hoan
%A Bis, Joshua
%A Grenier-Boley, Benjamin
%A Rodriguez, Omar Garcia
%A Kleineidam, Luca
%A Young, Juan
%A Tripathi, Kumar Parijat
%A Wang, Lily
%A Varma, Achintya
%A Campos-Martin, Rafael
%A van der Lee, Sven
%A Damotte, Vincent
%A de Rojas, Itziar
%A Palmal, Sagnik
%A Lipton, Richard
%A Reiman, Eric
%A McKee, Ann
%A De Jager, Philip
%A Bush, William
%A Small, Scott
%A Levey, Allan
%A Saykin, Andrew
%A Foroud, Tatiana
%A Albert, Marilyn
%A Hyman, Bradley
%A Petersen, Ronald
%A Younkin, Steven
%A Sano, Mary
%A Wisniewski, Thomas
%A Vassar, Robert
%A Schneider, Julie
%A Henderson, Victor
%A Roberson, Erik
%A DeCarli, Charles
%A LaFerla, Frank
%A Brewer, James
%A Swerdlow, Russell
%A Van Eldik, Linda
%A Hamilton-Nelson, Kara
%A Paulson, Henry
%A Naj, Adam
%A Lopez, Oscar
%A Chui, Helena
%A Crane, Paul
%A Grabowski, Thomas
%A Kukull, Walter
%A Asthana, Sanjay
%A Craft, Suzanne
%A Strittmatter, Stephen
%A Cruchaga, Carlos
%A Leverenz, James
%A Goate, Alison
%A Kamboh, M Ilyas
%A George-Hyslop, Peter St
%A Valladares, Otto
%A Kuzma, Amanda
%A Cantwell, Laura
%A Riemenschneider, Matthias
%A Morris, John
%A Slifer, Susan
%A Dalmasso, Carolina
%A Castillo, Atahualpa
%A Küçükali, Fahri
%A Peters, Oliver
%A Schneider, Anja
%A Dichgans, Martin
%A Rujescu, Dan
%A Scherbaum, Norbert
%A Deckert, Jürgen
%A Riedel-Heller, Steffi
%A Hausner, Lucrezia
%A Molina-Porcel, Laura
%A Düzel, Emrah
%A Grimmer, Timo
%A Wiltfang, Jens
%A Heilmann-Heimbach, Stefanie
%A Moebus, Susanne
%A Tegos, Thomas
%A Scarmeas, Nikolaos
%A Dols-Icardo, Oriol
%A Moreno, Fermin
%A Pérez-Tur, Jordi
%A Bullido, María J
%A Pastor, Pau
%A Sánchez-Valle, Raquel
%A Álvarez, Victoria
%A Boada, Mercè
%A García-González, Pablo
%A Puerta, Raquel
%A Mir, Pablo
%A Real, Luis M
%A Piñol-Ripoll, Gerard
%A García-Alberca, Jose María
%A Royo, Jose Luís
%A Rodriguez-Rodriguez, Eloy
%A Soininen, Hilkka
%A de Mendonça, Alexandre
%A Mehrabian, Shima
%A Traykov, Latchezar
%A Hort, Jakub
%A Vyhnalek, Martin
%A Thomassen, Jesper Qvist
%A Pijnenburg, Yolande A L
%A Holstege, Henne
%A van Swieten, John
%A Ramakers, Inez
%A Verhey, Frans
%A Scheltens, Philip
%A Graff, Caroline
%A Papenberg, Goran
%A Giedraitis, Vilmantas
%A Boland, Anne
%A Deleuze, Jean-François
%A Nicolas, Gael
%A Dufouil, Carole
%A Pasquier, Florence
%A Hanon, Olivier
%A Debette, Stéphanie
%A Grünblatt, Edna
%A Popp, Julius
%A Ghidoni, Roberta
%A Galimberti, Daniela
%A Arosio, Beatrice
%A Mecocci, Patrizia
%A Solfrizzi, Vincenzo
%A Parnetti, Lucilla
%A Squassina, Alessio
%A Tremolizzo, Lucio
%A Borroni, Barbara
%A Nacmias, Benedetta
%A Spallazzi, Marco
%A Seripa, Davide
%A Rainero, Innocenzo
%A Daniele, Antonio
%A Bossù, Paola
%A Masullo, Carlo
%A Rossi, Giacomina
%A Jessen, Frank
%A Fernandez, Victoria
%A Kehoe, Patrick Gavin
%A Frikke-Schmidt, Ruth
%A Tsolaki, Magda
%A Sánchez-Juan, Pascual
%A Sleegers, Kristel
%A Ingelsson, Martin
%A Haines, Jonathan
%A Farrer, Lindsay
%A Mayeux, Richard
%A Wang, Li-San
%A Sims, Rebecca
%A DeStefano, Anita
%A Schellenberg, Gerard D
%A Seshadri, Sudha
%A Amouyel, Philippe
%A Williams, Julie
%A van der Flier, Wiesje
%A Ramirez, Alfredo
%A Pericak-Vance, Margaret
%A Andreassen, Ole A
%A Van Duijn, Cornelia
%A Hiltunen, Mikko
%A Ruiz, Agustín
%A Dupuis, Josée
%A Martin, Eden
%A Lambert, Jean-Charles
%A Kunkle, Brian
%A Bellenguez, Céline
%T X-chromosome-wide association study for Alzheimer's disease.
%J Molecular psychiatry
%V 30
%N 6
%@ 1359-4184
%C [London]
%I Springer Nature
%M DZNE-2025-00631
%P 2335 - 2346
%D 2025
%X Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10-8) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10-6). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.
%K Humans
%K Alzheimer Disease: genetics
%K Genome-Wide Association Study: methods
%K Female
%K Chromosomes, Human, X: genetics
%K Male
%K Genetic Predisposition to Disease: genetics
%K Polymorphism, Single Nucleotide: genetics
%K Aged
%K X Chromosome Inactivation: genetics
%K Aged, 80 and over
%K Case-Control Studies
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39633006
%2 pmc:PMC12092188
%R 10.1038/s41380-024-02838-5
%U https://pub.dzne.de/record/278795