{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Le Borgne J"],"funding":["NIA NIH HHS","NHLBI NIH HHS"],"pagination":["2335-2346"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12092188"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(6)"],"pubmed_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<sup>-</sup><sup>8</sup>) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10<sup>-</sup><sup>6</sup>). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq2"],"journal":["Molecular psychiatry"],"pubmed_title":["X-chromosome-wide association study for Alzheimer's disease."],"pmcid":["PMC12092188"],"funding_grant_id":["U24 AG021886","P30 AG072975","RC2 AG036528","P30 AG072977","U24 AG072122","P30 AG066514","U01 AG032984","R01 AG062634","U24 AG041689","P01 AG060882","R01 HL105756","P30 AG066508"],"pubmed_authors":["Hamilton-Nelson K","Rossi G","Hyman B","de Mendonca A","Scheltens P","Williams J","van der Flier W","Leverenz J","Schellenberg GD","Kucukali F","Brewer J","Valladares O","Pinol-Ripoll G","Paulson H","Martin E","Scherbaum N","DeCarli C","Ghidoni R","Fernandez V","Reiman E","Borroni B","Popp J","Squassina A","Naj A","Traykov L","Seripa D","Roberson E","EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE","Sano M","Cruchaga C","Levey A","Cantwell L","Moebus S","Soininen H","Young J","Riemenschneider M","Grunblatt E","DeStefano A","Kukull W","Amin N","Thomassen JQ","Moreno F","Henderson V","Bullido MJ","Nacmias B","Kleineidam L","Royo JL","Lopez O","Sanchez-Juan P","Boland A","Pasquier F","Sims R","Castillo A","Schneider A","Ramirez A","Asthana S","Kunkle B","Dufouil C","Craft S","Younkin S","Garcia-Gonzalez P","Varma A","de Rojas I","Schneider J","Lambert JC","LaFerla F","Graff C","Verhey F","Kamboh MI","Vyhnalek M","Small S","Bush W","Ruiz A","Daniele A","Galimberti D","Real LM","Pijnenburg YAL","Kehoe PG","Dupuis J","Chui H","Scarmeas N","Ahmad S","Mir P","Dalmasso C","Ramakers I","Wisniewski T","Crane P","Amouyel P","Wang L","George-Hyslop PS","Giedraitis V","Spallazzi M","Andreassen OA","Holstege H","Molina-Porcel L","De Jager P","Bellenguez C","Peters O","Puerta R","Le Borgne J","Grabowski T","Arosio B","Grimmer T","Wang LS","Jessen F","Foroud T","Wiltfang J","van der Lee S","Solfrizzi V","Tremolizzo L","Dichgans M","Heikkinen S","Debette S","Haines J","Campos-Martin R","Vassar R","Rodriguez OG","Deleuze JF","Damotte V","Hausner L","Heilmann-Heimbach S","Boada M","Strittmatter S","Hiltunen M","Papenberg G","Farrer L","Garcia-Alberca JM","Hort J","Tripathi KP","Deckert J","Duzel E","Sleegers K","Bis J","Mehrabian S","Riedel-Heller S","Tegos T","Saykin A","Hanon O","Frikke-Schmidt R","Lipton R","Pericak-Vance M","Swerdlow R","Mecocci P","Morris J","Nicolas G","Perez-Tur J","Parnetti L","Alvarez V","Ingelsson M","Van Duijn C","Kuzma A","Mayeux R","Palmal S","Masullo C","McKee A","Grenier-Boley B","Slifer S","Pastor P","Rujescu D","Van Eldik L","Dols-Icardo O","Seshadri S","Albert M","Rodriguez-Rodriguez E","Gomez L","Rainero I","Choi SH","Tsolaki M","van Swieten J","Bossu P","Goate A","Sanchez-Valle R","Petersen R"],"additional_accession":[]},"is_claimable":false,"name":"X-chromosome-wide association study for Alzheimer's disease.","description":"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<sup>-</sup><sup>8</sup>) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10<sup>-</sup><sup>6</sup>). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq2","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-06-01T10:22:19.337Z","creation":"2026-04-08T11:22:11.941Z"},"accession":"S-EPMC12092188","cross_references":{"pubmed":["39633006"],"doi":["10.1038/s41380-024-02838-5"]}}