% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Valentino:269189,
      author       = {Valentino, Rebecca R and Scotton, William J and Roemer,
                      Shanu F and Lashley, Tammaryn and Heckman, Michael G and
                      Shoai, Maryam and Martinez-Carrasco, Alejandro and Tamvaka,
                      Nicole and Walton, Ronald L and Baker, Matthew C and
                      Macpherson, Hannah L and Real, Raquel and Soto-Beasley,
                      Alexandra I and Mok, Kin and Revesz, Tamas and Christopher,
                      Elizabeth A and DeTure, Michael and Seeley, William W and
                      Lee, Edward B and Frosch, Matthew P and Molina-Porcel, Laura
                      and Gefen, Tamar and Redding-Ochoa, Javier and Ghetti,
                      Bernardino and Robinson, Andrew C and Kobylecki, Christopher
                      and Rowe, James B and Beach, Thomas G and Teich, Andrew F
                      and Keith, Julia L and Bodi, Istvan and Halliday, Glenda M
                      and Gearing, Marla and Arzberger, Thomas and Morris,
                      Christopher M and White, Charles L and Mechawar, Naguib and
                      Boluda, Susana and MacKenzie, Ian R and McLean, Catriona and
                      Cykowski, Matthew D and Wang, Shih-Hsiu J and Graff,
                      Caroline and Nagra, Rashed M and Kovacs, Gabor G and
                      Giaccone, Giorgio and Neumann, Manuela and Ang, Lee-Cyn and
                      Carvalho, Agostinho and Morris, Huw R and Rademakers, Rosa
                      and Hardy, John A and Dickson, Dennis W and Rohrer, Jonathan
                      D and Ross, Owen A},
      collaboration = {Consortium, Pick's disease International},
      othercontributors = {Warner, Thomas T and Jaunmuktane, Zane and Boeve, Bradley F
                          and Duara, Ranjan and Graff-Radford, Neill R and Josephs,
                          Keith A and Knopman, David S and Koga, Shunsuke and Murray,
                          Melissa E and Lyons, Kelly E and Pahwa, Rajesh and Petersen,
                          Ronald C and Whitwell, Jennifer L and Grinberg, Lea T and
                          Miller, Bruce and Schlereth, Athena and Spina, Salvatore and
                          Grossman, Murray and Irwin, David J and Suh, EunRan and
                          Trojanowski, John Q and Van Deerlin, Vivianna M and Wolk,
                          David A and Connors, Theresa R and Dooley, Patrick M and
                          Oakley, Derek H and Aldecoa, Iban and Balasa, Mircea and
                          Gelpi, Ellen and Borrego-Écija, Sergi and Gascon-Bayarri,
                          Jordi and Sánchez-Valle, Raquel and Sanz-Cartagena, Pilar
                          and Piñol-Ripoll, Gerard and Bigio, Eileen H and Flanagan,
                          Margaret E and Rogalski, Emily J and Weintraub, Sandra and
                          Schneider, Julie A and Peng, Lihua and Zhu, Xiongwei and
                          Chang, Koping and Troncoso, Juan C and Prokop, Stefan and
                          Newell, Kathy L and Jones, Matthew and Richardson, Anna and
                          Roncaroli, Federico and Snowden, Julie and Allinson, Kieren
                          and Singh, Poonam and Serrano, Geidy E and Flowers, Xena E
                          and Goldman, James E and Heaps, Allison C and Leskinen,
                          Sandra P and Black, Sandra E and Masellis, Mario and King,
                          Andrew and Al-Sarraj, Safa and Troakes, Claire and Hodges,
                          John R and Kril, Jillian J and Kwok, John B and Piguet,
                          Olivier and Roeber, Sigrun and Attems, Johannes and Thomas,
                          Alan J and Evers, Bret M and Bieniek, Kevin F and Sieben,
                          Anne A and Cras, Patrick P and De Vil, Bart B and Bird,
                          Thomas and Castellani, Rudolph J and Chaffee, Ann and
                          Franklin, Erin and Haroutunian, Vahram and Jacobsen, Max and
                          Keene, Dirk and Latimer, Caitlin S and Metcalf, Jeff and
                          Perrin, Richard J and Purohit, Dushyant P and Rissman,
                          Robert A and Schantz, Aimee and Walker, Jamie and De Deyn,
                          Peter P and Duyckaerts, Charles and Le Ber, Isabelle and
                          Seilhean, Danielle and Turbant-Leclere, Sabrina and Ervin,
                          John F and Nennesmo, Inger and Riehl, James and Nacmias,
                          Benedetta and Finger, Elizabeth C and Blauwendraat, Cornelis
                          and Nalls, Mike A and Singleton, Andrew B and Vitale, Dan
                          and Cunha, Cristina and Wszolek, Zbigniew K},
      title        = {{MAPT} {H}2 haplotype and risk of {P}ick's disease in the
                      {P}ick's disease {I}nternational {C}onsortium: a genetic
                      association study.},
      journal      = {The lancet},
      volume       = {23},
      number       = {5},
      issn         = {1474-4422},
      address      = {London},
      publisher    = {Lancet Publ. Group},
      reportid     = {DZNE-2024-00488},
      pages        = {487 - 499},
      year         = {2024},
      abstract     = {Pick's disease is a rare and predominantly sporadic form of
                      frontotemporal dementia that is classified as a primary
                      tauopathy. Pick's disease is pathologically defined by the
                      presence in the frontal and temporal lobes of Pick bodies,
                      composed of hyperphosphorylated, three-repeat tau protein,
                      encoded by the MAPT gene. MAPT has two distinct haplotypes,
                      H1 and H2; the MAPT H1 haplotype is the major genetic risk
                      factor for four-repeat tauopathies (eg, progressive
                      supranuclear palsy and corticobasal degeneration), and the
                      MAPT H2 haplotype is protective for these disorders. The
                      primary aim of this study was to evaluate the association of
                      MAPT H2 with Pick's disease risk, age at onset, and disease
                      duration.In this genetic association study, we used data
                      from the Pick's disease International Consortium, which we
                      established to enable collection of data from individuals
                      with pathologically confirmed Pick's disease worldwide. For
                      this analysis, we collected brain samples from individuals
                      with pathologically confirmed Pick's disease from 35 sites
                      (brainbanks and hospitals) in North America, Europe, and
                      Australia between Jan 1, 2020, and Jan 31, 2023.
                      Neurologically healthy controls were recruited from the Mayo
                      Clinic (FL, USA, or MN, USA between March 1, 1998, and Sept
                      1, 2019). For the primary analysis, individuals were
                      directly genotyped for the MAPT H1-H2 haplotype-defining
                      variant rs8070723. In a secondary analysis, we genotyped and
                      constructed the six-variant-defined
                      (rs1467967-rs242557-rs3785883-rs2471738-rs8070723-rs7521)
                      MAPT H1 subhaplotypes. Associations of MAPT variants and
                      MAPT haplotypes with Pick's disease risk, age at onset, and
                      disease duration were examined using logistic and linear
                      regression models; odds ratios (ORs) and β coefficients
                      were estimated and correspond to each additional minor
                      allele or each additional copy of the given haplotype.We
                      obtained brain samples from 338 people with pathologically
                      confirmed Pick's disease (205 $[61\%]$ male and 133 $[39\%]$
                      female; 338 $[100\%]$ White) and 1312 neurologically healthy
                      controls (611 $[47\%]$ male and 701 $[53\%]$ female; 1312
                      $[100\%]$ White). The MAPT H2 haplotype was associated with
                      increased risk of Pick's disease compared with the H1
                      haplotype (OR 1·35 $[95\%$ CI 1·12 to 1·64], p=0·0021).
                      MAPT H2 was not associated with age at onset (β -0·54
                      $[95\%$ CI -1·94 to 0·87], p=0·45) or disease duration
                      (β 0·05 [-0·06 to 0·16], p=0·35). Although not
                      significant after correcting for multiple testing,
                      associations were observed at p less than 0·05: with risk
                      of Pick's disease for the H1f subhaplotype (OR 0·11 [0·01
                      to 0·99], p=0·049); with age at onset for H1b (β 2·66
                      [0·63 to 4·70], p=0·011), H1i (β -3·66 [-6·83 to
                      -0·48], p=0·025), and H1u (β -5·25 [-10·42 to -0·07],
                      p=0·048); and with disease duration for H1x (β -0·57
                      [-1·07 to -0·07], p=0·026).The Pick's disease
                      International Consortium provides an opportunity to do large
                      studies to enhance our understanding of the pathobiology of
                      Pick's disease. This study shows that, in contrast to the
                      decreased risk of four-repeat tauopathies, the MAPT H2
                      haplotype is associated with an increased risk of Pick's
                      disease in people of European ancestry. This finding could
                      inform development of isoform-related therapeutics for
                      tauopathies.Wellcome Trust, Rotha Abraham Trust, Brain
                      Research UK, the Dolby Fund, Dementia Research Institute
                      (Medical Research Council), US National Institutes of
                      Health, and the Mayo Clinic Foundation.},
      keywords     = {Female / Humans / Male / Genetic Association Studies /
                      Haplotypes / Pick Disease of the Brain: genetics / tau
                      Proteins: genetics / Tauopathies / MAPT protein, human (NLM
                      Chemicals)},
      cin          = {AG Neumann},
      ddc          = {610},
      cid          = {I:(DE-2719)1210003},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38631765},
      doi          = {10.1016/S1474-4422(24)00083-8},
      url          = {https://pub.dzne.de/record/269189},
}