TY  - JOUR
AU  - Wang, Hui
AU  - Chang, Timothy S
AU  - Dombroski, Beth A
AU  - Cheng, Po-Liang
AU  - Si, Ya-Qin
AU  - Tucci, Albert
AU  - Patil, Vishakha
AU  - Valiente-Banuet, Leopoldo
AU  - Li, Chong
AU  - Farrell, Kurt
AU  - Mclean, Catriona
AU  - Molina-Porcel, Laura
AU  - Rajput, Alex
AU  - De Deyn, Peter Paul
AU  - Le Bastard, Nathalie
AU  - Gearing, Marla
AU  - Donker Kaat, Laura
AU  - Van Swieten, John C
AU  - Dopper, Elise
AU  - Ghetti, Bernardino F
AU  - Newell, Kathy L
AU  - Troakes, Claire
AU  - de Yébenes, Justo G
AU  - Rábano-Gutierrez, Alberto
AU  - Meller, Tina
AU  - Oertel, Wolfgang H
AU  - Respondek, Gesine
AU  - Stamelou, Maria
AU  - Arzberger, Thomas
AU  - Roeber, Sigrun
AU  - Müller, Ulrich
AU  - Hopfner, Franziska
AU  - Pastor, Pau
AU  - Brice, Alexis
AU  - Durr, Alexandra
AU  - Le Ber, Isabelle
AU  - Beach, Thomas G
AU  - Serrano, Geidy E
AU  - Hazrati, Lili-Naz
AU  - Litvan, Irene
AU  - Rademakers, Rosa
AU  - Ross, Owen A
AU  - Galasko, Douglas
AU  - Boxer, Adam L
AU  - Miller, Bruce L
AU  - Seeley, Willian W
AU  - Van Deerlin, Vivianna M
AU  - Lee, Edward B
AU  - White, Charles L
AU  - Morris, Huw R
AU  - de Silva, Rohan
AU  - Crary, John F
AU  - Goate, Alison M
AU  - Friedman, Jeffrey S
AU  - Compta, Yaroslau
AU  - Leung, Yuk Yee
AU  - Coppola, Giovanni
AU  - Naj, Adam C
AU  - Wang, Li-San
AU  - Dalgard, Clifton
AU  - Dickson, Dennis W
AU  - Höglinger, Günter U
AU  - Tzeng, Jung-Ying
AU  - Geschwind, Daniel H
AU  - Schellenberg, Gerard D
AU  - Lee, Wan-Ping
TI  - Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
JO  - Movement disorders
VL  - 40
IS  - 5
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2025-00623
SP  - 950 - 961
PY  - 2025
AB  - 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
KW  - Humans
KW  - Supranuclear Palsy, Progressive: genetics
KW  - DNA Copy Number Variations: genetics
KW  - Female
KW  - Male
KW  - Chromosomes, Human, Pair 17: genetics
KW  - Aged
KW  - Haplotypes: genetics
KW  - Neurons: metabolism
KW  - Genetic Predisposition to Disease: genetics
KW  - Middle Aged
KW  - Gene Expression
KW  - 17q21.31 (Other)
KW  - H1 and H2 haplotypes (Other)
KW  - copy number variations (Other)
KW  - progressive supranuclear palsy (Other)
KW  - single‐cell gene expression (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC12089919
C6  - pmid:40055946
DO  - DOI:10.1002/mds.30150
UR  - https://pub.dzne.de/record/278787
ER  -