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@ARTICLE{Wang:271349,
      author       = {Wang, Hui and Chang, Timothy S and Dombroski, Beth A and
                      Cheng, Po-Liang and Patil, Vishakha and Valiente-Banuet,
                      Leopoldo and Farrell, Kurt and Mclean, Catriona and
                      Molina-Porcel, Laura and Rajput, Alex and De Deyn, Peter
                      Paul and Le Bastard, Nathalie and Gearing, Marla and Kaat,
                      Laura Donker and Van Swieten, John C and Dopper, Elise and
                      Ghetti, Bernardino F and Newell, Kathy L and Troakes, Claire
                      and de Yébenes, Justo G and Rábano-Gutierrez, Alberto and
                      Meller, Tina and Oertel, Wolfgang H and Respondek, Gesine
                      and Stamelou, Maria and Arzberger, Thomas and Roeber, Sigrun
                      and Müller, Ulrich and Hopfner, Franziska and Pastor, Pau
                      and Brice, Alexis and Durr, Alexandra and Le Ber, Isabelle
                      and Beach, Thomas G and Serrano, Geidy E and Hazrati,
                      Lili-Naz and Litvan, Irene and Rademakers, Rosa and Ross,
                      Owen A and Galasko, Douglas and Boxer, Adam L and Miller,
                      Bruce L and Seeley, Willian W and Van Deerlin, Vivanna M and
                      Lee, Edward B and White, Charles L and Morris, Huw and de
                      Silva, Rohan and Crary, John F and Goate, Alison M and
                      Friedman, Jeffrey S and Leung, Yuk Yee and Coppola, Giovanni
                      and Naj, Adam C and Wang, Li-San and Dalgard, Clifton and
                      Dickson, Dennis W and Höglinger, Günter U and
                      Schellenberg, Gerard D and Geschwind, Daniel H and Lee,
                      Wan-Ping},
      collaboration = {genetics study group, P. S. P.},
      title        = {{W}hole-genome sequencing analysis reveals new
                      susceptibility loci and structural variants associated with
                      progressive supranuclear palsy.},
      journal      = {Molecular neurodegeneration},
      volume       = {19},
      number       = {1},
      issn         = {1750-1326},
      address      = {London},
      publisher    = {Biomed Central},
      reportid     = {DZNE-2024-01050},
      pages        = {61},
      year         = {2024},
      abstract     = {Progressive supranuclear palsy (PSP) is a rare
                      neurodegenerative disease characterized by the accumulation
                      of aggregated tau proteins in astrocytes, neurons, and
                      oligodendrocytes. Previous genome-wide association studies
                      for PSP were based on genotype array, therefore, were
                      inadequate for the analysis of rare variants as well as
                      larger mutations, such as small insertions/deletions
                      (indels) and structural variants (SVs).In this study, we
                      performed whole genome sequencing (WGS) and conducted
                      association analysis for single nucleotide variants (SNVs),
                      indels, and SVs, in a cohort of 1,718 cases and 2,944
                      controls of European ancestry. Of the 1,718 PSP individuals,
                      1,441 were autopsy-confirmed and 277 were clinically
                      diagnosed.Our analysis of common SNVs and indels confirmed
                      known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and
                      SP1, and further uncovered novel signals in APOE,
                      FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1. Notably, in
                      contrast to Alzheimer's disease (AD), we observed the APOE
                      ε2 allele to be the risk allele in PSP. Analysis of rare
                      SNVs and indels identified significant association in ZNF592
                      and further gene network analysis identified a module of
                      neuronal genes dysregulated in PSP. Moreover, seven common
                      SVs associated with PSP were observed in the H1/H2 haplotype
                      region (17q21.31) and other loci, including IGH, PCMT1,
                      CYP2A13, and SMCP. In the H1/H2 haplotype region, there is a
                      burden of rare deletions and duplications (P = 6.73 × 10-3)
                      in PSP.Through WGS, we significantly enhanced our
                      understanding of the genetic basis of PSP, providing new
                      targets for exploring disease mechanisms and therapeutic
                      interventions.},
      keywords     = {Humans / Supranuclear Palsy, Progressive: genetics /
                      Genetic Predisposition to Disease: genetics / Whole Genome
                      Sequencing / Male / Genome-Wide Association Study / Female /
                      Aged / Polymorphism, Single Nucleotide: genetics / Middle
                      Aged / Aged, 80 and over / Apolipoprotein E (APOE) (Other) /
                      Genome-Wide Association Study (GWAS) (Other) / Progressive
                      Supranuclear Palsy (PSP) (Other) / Structural Variants (SVs)
                      (Other) / Whole-Genome Sequencing (WGS) (Other)},
      cin          = {AG Höglinger ; AG Höglinger / Clinical Research (Munich)},
      ddc          = {570},
      cid          = {I:(DE-2719)1110002 / I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39152475},
      pmc          = {pmc:PMC11330058},
      doi          = {10.1186/s13024-024-00747-3},
      url          = {https://pub.dzne.de/record/271349},
}