%0 Journal Article
%A Wang, Hui
%A Chang, Timothy S
%A Dombroski, Beth A
%A Cheng, Po-Liang
%A Si, Ya-Qin
%A Tucci, Albert
%A Patil, Vishakha
%A Valiente-Banuet, Leopoldo
%A Li, Chong
%A Farrell, Kurt
%A Mclean, Catriona
%A Molina-Porcel, Laura
%A Rajput, Alex
%A De Deyn, Peter Paul
%A Le Bastard, Nathalie
%A Gearing, Marla
%A Donker Kaat, Laura
%A Van Swieten, John C
%A Dopper, Elise
%A Ghetti, Bernardino F
%A Newell, Kathy L
%A Troakes, Claire
%A de Yébenes, Justo G
%A Rábano-Gutierrez, Alberto
%A Meller, Tina
%A Oertel, Wolfgang H
%A Respondek, Gesine
%A Stamelou, Maria
%A Arzberger, Thomas
%A Roeber, Sigrun
%A Müller, Ulrich
%A Hopfner, Franziska
%A Pastor, Pau
%A Brice, Alexis
%A Durr, Alexandra
%A Le Ber, Isabelle
%A Beach, Thomas G
%A Serrano, Geidy E
%A Hazrati, Lili-Naz
%A Litvan, Irene
%A Rademakers, Rosa
%A Ross, Owen A
%A Galasko, Douglas
%A Boxer, Adam L
%A Miller, Bruce L
%A Seeley, Willian W
%A Van Deerlin, Vivianna M
%A Lee, Edward B
%A White, Charles L
%A Morris, Huw R
%A de Silva, Rohan
%A Crary, John F
%A Goate, Alison M
%A Friedman, Jeffrey S
%A Compta, Yaroslau
%A Leung, Yuk Yee
%A Coppola, Giovanni
%A Naj, Adam C
%A Wang, Li-San
%A Dalgard, Clifton
%A Dickson, Dennis W
%A Höglinger, Günter U
%A Tzeng, Jung-Ying
%A Geschwind, Daniel H
%A Schellenberg, Gerard D
%A Lee, Wan-Ping
%T Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
%J Movement disorders
%V 40
%N 5
%@ 0885-3185
%C New York, NY
%I Wiley
%M DZNE-2025-00623
%P 950 - 961
%D 2025
%X The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with additional copies of γ displayed a higher risk for PSP. The frequency of the risk sub-haplotype H1c rises from 1
%K Humans
%K Supranuclear Palsy, Progressive: genetics
%K DNA Copy Number Variations: genetics
%K Female
%K Male
%K Chromosomes, Human, Pair 17: genetics
%K Aged
%K Haplotypes: genetics
%K Neurons: metabolism
%K Genetic Predisposition to Disease: genetics
%K Middle Aged
%K Gene Expression
%K 17q21.31 (Other)
%K H1 and H2 haplotypes (Other)
%K copy number variations (Other)
%K progressive supranuclear palsy (Other)
%K single‐cell gene expression (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC12089919
%$ pmid:40055946
%R 10.1002/mds.30150
%U https://pub.dzne.de/record/278787