Home > Publications Database > Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells. > print

001     278787
005     20260105131136.0
024 7 _ |a pmc:PMC12089919
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024 7 _ |a 10.1002/mds.30150
|2 doi
024 7 _ |a pmid:40055946
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024 7 _ |a 0885-3185
|2 ISSN
024 7 _ |a 1531-8257
|2 ISSN
037 _ _ |a DZNE-2025-00623
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Wang, Hui
|0 0000-0003-4043-5060
|b 0
245 _ _ |a Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
260 _ _ |a New York, NY
|c 2025
|b Wiley
336 7 _ |a article
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336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a 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% in individuals with two γ copies to 88% in those with eight copies. Additionally, γ duplication up-regulates expression of ARL17B, LRRC37A/LRRC37A2, and NSFP1, while down-regulating KANSL1. Single-nucleus RNA-seq of the dorsolateral prefrontal cortex analysis reveals γ duplication primarily up-regulates LRRC37A/LRRC37A2 in neuronal cells.The copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a 17q21.31
|2 Other
650 _ 7 |a H1 and H2 haplotypes
|2 Other
650 _ 7 |a copy number variations
|2 Other
650 _ 7 |a progressive supranuclear palsy
|2 Other
650 _ 7 |a single‐cell gene expression
|2 Other
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Supranuclear Palsy, Progressive: genetics
|2 MeSH
650 _ 2 |a DNA Copy Number Variations: genetics
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Chromosomes, Human, Pair 17: genetics
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Haplotypes: genetics
|2 MeSH
650 _ 2 |a Neurons: metabolism
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease: genetics
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Gene Expression
|2 MeSH
700 1 _ |a Chang, Timothy S
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700 1 _ |a Dombroski, Beth A
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700 1 _ |a Cheng, Po-Liang
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700 1 _ |a Van Swieten, John C
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700 1 _ |a Rábano-Gutierrez, Alberto
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700 1 _ |a Seeley, Willian W
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700 1 _ |a Van Deerlin, Vivianna M
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700 1 _ |a Lee, Edward B
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700 1 _ |a White, Charles L
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700 1 _ |a Morris, Huw R
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700 1 _ |a de Silva, Rohan
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700 1 _ |a Crary, John F
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700 1 _ |a Goate, Alison M
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700 1 _ |a Friedman, Jeffrey S
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700 1 _ |a Compta, Yaroslau
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700 1 _ |a Leung, Yuk Yee
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700 1 _ |a Coppola, Giovanni
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700 1 _ |a Naj, Adam C
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700 1 _ |a Wang, Li-San
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700 1 _ |a Group, PSP Genetics Study
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700 1 _ |a Dalgard, Clifton
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700 1 _ |a Dickson, Dennis W
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700 1 _ |a Höglinger, Günter U
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700 1 _ |a Tzeng, Jung-Ying
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700 1 _ |a Geschwind, Daniel H
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700 1 _ |a Schellenberg, Gerard D
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700 1 _ |a Lee, Wan-Ping
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700 1 _ |a Lang, Anthony E
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700 1 _ |a Schneider, Lon S
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700 1 _ |a Doody, Rachelle S
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773 _ _ |a 10.1002/mds.30150
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