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@ARTICLE{LeBorgne:278795,
author = {Le Borgne, Julie and Gomez, Lissette and Heikkinen, Sami
and Amin, Najaf and Ahmad, Shahzad and Choi, Seung Hoan and
Bis, Joshua and Grenier-Boley, Benjamin and Rodriguez, Omar
Garcia and Kleineidam, Luca and Young, Juan and Tripathi,
Kumar Parijat and Wang, Lily and Varma, Achintya and
Campos-Martin, Rafael and van der Lee, Sven and Damotte,
Vincent and de Rojas, Itziar and Palmal, Sagnik and Lipton,
Richard and Reiman, Eric and McKee, Ann and De Jager, Philip
and Bush, William and Small, Scott and Levey, Allan and
Saykin, Andrew and Foroud, Tatiana and Albert, Marilyn and
Hyman, Bradley and Petersen, Ronald and Younkin, Steven and
Sano, Mary and Wisniewski, Thomas and Vassar, Robert and
Schneider, Julie and Henderson, Victor and Roberson, Erik
and DeCarli, Charles and LaFerla, Frank and Brewer, James
and Swerdlow, Russell and Van Eldik, Linda and
Hamilton-Nelson, Kara and Paulson, Henry and Naj, Adam and
Lopez, Oscar and Chui, Helena and Crane, Paul and Grabowski,
Thomas and Kukull, Walter and Asthana, Sanjay and Craft,
Suzanne and Strittmatter, Stephen and Cruchaga, Carlos and
Leverenz, James and Goate, Alison and Kamboh, M Ilyas and
George-Hyslop, Peter St and Valladares, Otto and Kuzma,
Amanda and Cantwell, Laura and Riemenschneider, Matthias and
Morris, John and Slifer, Susan and Dalmasso, Carolina and
Castillo, Atahualpa and Küçükali, Fahri and Peters,
Oliver and Schneider, Anja and Dichgans, Martin and Rujescu,
Dan and Scherbaum, Norbert and Deckert, Jürgen and
Riedel-Heller, Steffi and Hausner, Lucrezia and
Molina-Porcel, Laura and Düzel, Emrah and Grimmer, Timo and
Wiltfang, Jens and Heilmann-Heimbach, Stefanie and Moebus,
Susanne and Tegos, Thomas and Scarmeas, Nikolaos and
Dols-Icardo, Oriol and Moreno, Fermin and Pérez-Tur, Jordi
and Bullido, María J and Pastor, Pau and Sánchez-Valle,
Raquel and Álvarez, Victoria and Boada, Mercè and
García-González, Pablo and Puerta, Raquel and Mir, Pablo
and Real, Luis M and Piñol-Ripoll, Gerard and
García-Alberca, Jose María and Royo, Jose Luís and
Rodriguez-Rodriguez, Eloy and Soininen, Hilkka and de
Mendonça, Alexandre and Mehrabian, Shima and Traykov,
Latchezar and Hort, Jakub and Vyhnalek, Martin and
Thomassen, Jesper Qvist and Pijnenburg, Yolande A L and
Holstege, Henne and van Swieten, John and Ramakers, Inez and
Verhey, Frans and Scheltens, Philip and Graff, Caroline and
Papenberg, Goran and Giedraitis, Vilmantas and Boland, Anne
and Deleuze, Jean-François and Nicolas, Gael and Dufouil,
Carole and Pasquier, Florence and Hanon, Olivier and
Debette, Stéphanie and Grünblatt, Edna and Popp, Julius
and Ghidoni, Roberta and Galimberti, Daniela and Arosio,
Beatrice and Mecocci, Patrizia and Solfrizzi, Vincenzo and
Parnetti, Lucilla and Squassina, Alessio and Tremolizzo,
Lucio and Borroni, Barbara and Nacmias, Benedetta and
Spallazzi, Marco and Seripa, Davide and Rainero, Innocenzo
and Daniele, Antonio and Bossù, Paola and Masullo, Carlo
and Rossi, Giacomina and Jessen, Frank and Fernandez,
Victoria and Kehoe, Patrick Gavin and Frikke-Schmidt, Ruth
and Tsolaki, Magda and Sánchez-Juan, Pascual and Sleegers,
Kristel and Ingelsson, Martin and Haines, Jonathan and
Farrer, Lindsay and Mayeux, Richard and Wang, Li-San and
Sims, Rebecca and DeStefano, Anita and Schellenberg, Gerard
D and Seshadri, Sudha and Amouyel, Philippe and Williams,
Julie and van der Flier, Wiesje and Ramirez, Alfredo and
Pericak-Vance, Margaret and Andreassen, Ole A and Van Duijn,
Cornelia and Hiltunen, Mikko and Ruiz, Agustín and Dupuis,
Josée and Martin, Eden and Lambert, Jean-Charles and
Kunkle, Brian and Bellenguez, Céline},
collaboration = {EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC,
CHARGE},
title = {{X}-chromosome-wide association study for {A}lzheimer's
disease.},
journal = {Molecular psychiatry},
volume = {30},
number = {6},
issn = {1359-4184},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-00631},
pages = {2335 - 2346},
year = {2025},
abstract = {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.},
keywords = {Humans / Alzheimer Disease: genetics / Genome-Wide
Association Study: methods / Female / Chromosomes, Human, X:
genetics / Male / Genetic Predisposition to Disease:
genetics / Polymorphism, Single Nucleotide: genetics / Aged
/ X Chromosome Inactivation: genetics / Aged, 80 and over /
Case-Control Studies},
cin = {AG Wagner / AG Peters / AG Schneider / AG Dichgans / AG
Düzel / AG Wiltfang / AG Jessen / Patient Studies (Bonn)},
ddc = {610},
cid = {I:(DE-2719)1011201 / I:(DE-2719)5000000 /
I:(DE-2719)1011305 / I:(DE-2719)5000022 / I:(DE-2719)5000006
/ I:(DE-2719)1410006 / I:(DE-2719)1011102 /
I:(DE-2719)1011101},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39633006},
pmc = {pmc:PMC12092188},
doi = {10.1038/s41380-024-02838-5},
url = {https://pub.dzne.de/record/278795},
}
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