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000278787 1001_ $$00000-0003-4043-5060$$aWang, Hui$$b0
000278787 245__ $$aCopy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.
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000278787 520__ $$aThe 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with additional copies of γ displayed a higher risk for PSP. The frequency of the risk sub-haplotype H1c rises from 1% in individuals with two γ copies to 88% in those with eight copies. Additionally, γ duplication up-regulates expression of ARL17B, LRRC37A/LRRC37A2, and NSFP1, while down-regulating KANSL1. Single-nucleus RNA-seq of the dorsolateral prefrontal cortex analysis reveals γ duplication primarily up-regulates LRRC37A/LRRC37A2 in neuronal cells.The copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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000278787 650_7 $$2Other$$a17q21.31
000278787 650_7 $$2Other$$aH1 and H2 haplotypes
000278787 650_7 $$2Other$$acopy number variations
000278787 650_7 $$2Other$$aprogressive supranuclear palsy
000278787 650_7 $$2Other$$asingle‐cell gene expression
000278787 650_2 $$2MeSH$$aHumans
000278787 650_2 $$2MeSH$$aSupranuclear Palsy, Progressive: genetics
000278787 650_2 $$2MeSH$$aDNA Copy Number Variations: genetics
000278787 650_2 $$2MeSH$$aFemale
000278787 650_2 $$2MeSH$$aMale
000278787 650_2 $$2MeSH$$aChromosomes, Human, Pair 17: genetics
000278787 650_2 $$2MeSH$$aAged
000278787 650_2 $$2MeSH$$aHaplotypes: genetics
000278787 650_2 $$2MeSH$$aNeurons: metabolism
000278787 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000278787 650_2 $$2MeSH$$aMiddle Aged
000278787 650_2 $$2MeSH$$aGene Expression
000278787 7001_ $$00000-0002-9225-9874$$aChang, Timothy S$$b1
000278787 7001_ $$00000-0002-5334-1306$$aDombroski, Beth A$$b2
000278787 7001_ $$00009-0007-0046-0313$$aCheng, Po-Liang$$b3
000278787 7001_ $$00000-0002-9968-9754$$aSi, Ya-Qin$$b4
000278787 7001_ $$00000-0001-5703-7208$$aTucci, Albert$$b5
000278787 7001_ $$aPatil, Vishakha$$b6
000278787 7001_ $$aValiente-Banuet, Leopoldo$$b7
000278787 7001_ $$00000-0003-1949-4074$$aLi, Chong$$b8
000278787 7001_ $$00000-0001-6955-7278$$aFarrell, Kurt$$b9
000278787 7001_ $$00000-0002-0302-5727$$aMclean, Catriona$$b10
000278787 7001_ $$00000-0003-4068-8578$$aMolina-Porcel, Laura$$b11
000278787 7001_ $$00000-0001-9656-318X$$aRajput, Alex$$b12
000278787 7001_ $$00000-0002-2228-2964$$aDe Deyn, Peter Paul$$b13
000278787 7001_ $$00000-0002-7981-2866$$aLe Bastard, Nathalie$$b14
000278787 7001_ $$00000-0002-1959-7412$$aGearing, Marla$$b15
000278787 7001_ $$00009-0007-2436-0931$$aDonker Kaat, Laura$$b16
000278787 7001_ $$00000-0001-6278-6844$$aVan Swieten, John C$$b17
000278787 7001_ $$aDopper, Elise$$b18
000278787 7001_ $$00000-0002-1842-8019$$aGhetti, Bernardino F$$b19
000278787 7001_ $$aNewell, Kathy L$$b20
000278787 7001_ $$00000-0002-1790-7376$$aTroakes, Claire$$b21
000278787 7001_ $$00000-0003-0452-3223$$ade Yébenes, Justo G$$b22
000278787 7001_ $$aRábano-Gutierrez, Alberto$$b23
000278787 7001_ $$00000-0002-0239-6585$$aMeller, Tina$$b24
000278787 7001_ $$0P:(DE-2719)9000908$$aOertel, Wolfgang H$$b25
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000278787 7001_ $$aRoeber, Sigrun$$b29
000278787 7001_ $$aMüller, Ulrich$$b30
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000278787 7001_ $$00000-0002-7493-8777$$aPastor, Pau$$b32
000278787 7001_ $$00000-0002-0941-3990$$aBrice, Alexis$$b33
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000278787 7001_ $$aLe Ber, Isabelle$$b35
000278787 7001_ $$00000-0003-3296-6128$$aBeach, Thomas G$$b36
000278787 7001_ $$00000-0002-9527-2011$$aSerrano, Geidy E$$b37
000278787 7001_ $$00000-0003-2715-1485$$aHazrati, Lili-Naz$$b38
000278787 7001_ $$00000-0002-3485-3445$$aLitvan, Irene$$b39
000278787 7001_ $$aRademakers, Rosa$$b40
000278787 7001_ $$00000-0003-4813-756X$$aRoss, Owen A$$b41
000278787 7001_ $$00000-0001-6195-3241$$aGalasko, Douglas$$b42
000278787 7001_ $$00000-0002-1215-5064$$aBoxer, Adam L$$b43
000278787 7001_ $$00000-0002-2152-4220$$aMiller, Bruce L$$b44
000278787 7001_ $$aSeeley, Willian W$$b45
000278787 7001_ $$00000-0002-7400-9097$$aVan Deerlin, Vivianna M$$b46
000278787 7001_ $$00000-0002-4589-1180$$aLee, Edward B$$b47
000278787 7001_ $$00000-0002-3870-2804$$aWhite, Charles L$$b48
000278787 7001_ $$00000-0002-5473-3774$$aMorris, Huw R$$b49
000278787 7001_ $$ade Silva, Rohan$$b50
000278787 7001_ $$00000-0002-0556-293X$$aCrary, John F$$b51
000278787 7001_ $$00000-0002-0576-2472$$aGoate, Alison M$$b52
000278787 7001_ $$aFriedman, Jeffrey S$$b53
000278787 7001_ $$aCompta, Yaroslau$$b54
000278787 7001_ $$00000-0002-3047-5440$$aLeung, Yuk Yee$$b55
000278787 7001_ $$aCoppola, Giovanni$$b56
000278787 7001_ $$aNaj, Adam C$$b57
000278787 7001_ $$00000-0002-3684-0031$$aWang, Li-San$$b58
000278787 7001_ $$aGroup, PSP Genetics Study$$b59$$eCollaboration Author
000278787 7001_ $$aDalgard, Clifton$$b60
000278787 7001_ $$00000-0001-7189-7917$$aDickson, Dennis W$$b61
000278787 7001_ $$0P:(DE-2719)2811373$$aHöglinger, Günter U$$b62
000278787 7001_ $$00000-0002-5505-1775$$aTzeng, Jung-Ying$$b63
000278787 7001_ $$aGeschwind, Daniel H$$b64
000278787 7001_ $$00000-0003-1115-2475$$aSchellenberg, Gerard D$$b65
000278787 7001_ $$00000-0002-5305-1181$$aLee, Wan-Ping$$b66
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000278787 7001_ $$aGrossman, Murray$$b68$$eContributor
000278787 7001_ $$aKnopman, David S$$b69$$eContributor
000278787 7001_ $$aSchneider, Lon S$$b70$$eContributor
000278787 7001_ $$aDoody, Rachelle S$$b71$$eContributor
000278787 7001_ $$aLees, Andrew$$b72$$eContributor
000278787 7001_ $$aGolbe, Lawrence I$$b73$$eContributor
000278787 7001_ $$aWilliams, David R$$b74$$eContributor
000278787 7001_ $$aCorvol, Jean-Cristophe$$b75$$eContributor
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000278787 773__ $$0PERI:(DE-600)2041249-6$$a10.1002/mds.30150$$gVol. 40, no. 5, p. 950 - 961$$n5$$p950 - 961$$tMovement disorders$$v40$$x0885-3185$$y2025
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