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@ARTICLE{vanderLee:140840,
      author       = {van der Lee, Sven J and Conway, Olivia J and Jansen, Iris
                      and Carrasquillo, Minerva M and Kleineidam, Luca and van den
                      Akker, Erik and Hernández, Isabel and van Eijk, Kristel R
                      and Stringa, Najada and Chen, Jason A and Zettergren, Anna
                      and Andlauer, Till F M and Diez-Fairen, Monica and Simon
                      Sanchez, Javier and Lleó, Alberto and Zetterberg, Henrik
                      and Nygaard, Marianne and Blauwendraat, Cornelis and Savage,
                      Jeanne E and Mengel-From, Jonas and Moreno-Grau, Sonia and
                      Wagner, Michael and Fortea, Juan and Keogh, Michael J and
                      Blennow, Kaj and Skoog, Ingmar and Friese, Manuel A and
                      Pletnikova, Olga and Zulaica, Miren and Lage, Carmen and de
                      Rojas, Itziar and Riedel-Heller, Steffi and Illán-Gala,
                      Ignacio and Wei, Wei and Jeune, Bernard and Orellana,
                      Adelina and Then Bergh, Florian and Wang, Xue and Hulsman,
                      Marc and Beker, Nina and Tesi, Niccolo and Morris,
                      Christopher M and Indakoetxea, Begoña and Collij, Lyduine E
                      and Scherer, Martin and Morenas-Rodríguez, Estrella and
                      Ironside, James W and van Berckel, Bart N M and Alcolea,
                      Daniel and Wiendl, Heinz and Strickland, Samantha L and
                      Pastor, Pau and Rodríguez Rodríguez, Eloy and DESGESCO and
                      EADB and IFGC and IPDGC and RiMod-FTD and Bank, Netherlands
                      Brain and Boeve, Bradley F and Petersen, Ronald C and
                      Ferman, Tanis J and van Gerpen, Jay A and Reinders, Marcel J
                      T and Uitti, Ryan J and Tárraga, Lluís and Maier, Wolfgang
                      and Dols-Icardo, Oriol and Kawalia, Amit and Dalmasso, Maria
                      Carolina and Boada, Mercè and Zettl, Uwe K and van Schoor,
                      Natasja M and Beekman, Marian and Allen, Mariet and Masliah,
                      Eliezer and de Munain, Adolfo López and Pantelyat,
                      Alexander and Wszolek, Zbigniew K and Ross, Owen A and
                      Dickson, Dennis W and Graff-Radford, Neill R and Knopman,
                      David and Rademakers, Rosa and Lemstra, Afina W and
                      Pijnenburg, Yolande A L and Scheltens, Philip and Gasser,
                      Thomas and Chinnery, Patrick F and Hemmer, Bernhard and
                      Huisman, Martijn A and Troncoso, Juan and Moreno, Fermin and
                      Nohr, Ellen A and Sørensen, Thorkild I A and Heutink, Peter
                      and Sánchez-Juan, Pascual and Posthuma, Danielle and GIFT
                      and Clarimón, Jordi and Christensen, Kaare and
                      Ertekin-Taner, Nilüfer and Scholz, Sonja W and Ramirez,
                      Alfredo and Ruiz, Agustín and Slagboom, Eline and van der
                      Flier, Wiesje M and Holstege, Henne and Coppola, G. and
                      Karydas, A. M. and Varpetian, A. and Foroud, T. M. and
                      Levey, A. I. and Kukull, W. A. and Mendez, M. F. and
                      Ringman, J. and Chui, H. and Cotman, C. and DeCarli, C. and
                      Miller, B. L. and Geschwind, D. H.},
      title        = {{A} nonsynonymous mutation in {PLCG}2 reduces the risk of
                      {A}lzheimer's disease, dementia with {L}ewy bodies and
                      frontotemporal dementia, and increases the likelihood of
                      longevity.},
      journal      = {Acta neuropathologica},
      volume       = {138},
      number       = {2},
      issn         = {0001-6322},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2020-07162},
      pages        = {237-250},
      year         = {2019},
      abstract     = {The genetic variant rs72824905-G (minor allele) in the
                      PLCG2 gene was previously associated with a reduced
                      Alzheimer's disease risk (AD). The role of PLCG2 in immune
                      system signaling suggests it may also protect against other
                      neurodegenerative diseases and possibly associates with
                      longevity. We studied the effect of the rs72824905-G on
                      seven neurodegenerative diseases and longevity, using 53,627
                      patients, 3,516 long-lived individuals and 149,290
                      study-matched controls. We replicated the association of
                      rs72824905-G with reduced AD risk and we found an
                      association with reduced risk of dementia with Lewy bodies
                      (DLB) and frontotemporal dementia (FTD). We did not find
                      evidence for an effect on Parkinson's disease (PD),
                      amyotrophic lateral sclerosis (ALS) and multiple sclerosis
                      (MS) risks, despite adequate sample sizes. Conversely, the
                      rs72824905-G allele was associated with increased likelihood
                      of longevity. By-proxy analyses in the UK Biobank supported
                      the associations with both dementia and longevity.
                      Concluding, rs72824905-G has a protective effect against
                      multiple neurodegenerative diseases indicating shared
                      aspects of disease etiology. Our findings merit studying the
                      PLCγ2 pathway as drug-target.},
      keywords     = {Alleles / Alzheimer Disease: genetics / Amyotrophic Lateral
                      Sclerosis: genetics / Brain: immunology / Brain: metabolism
                      / Brain: pathology / Dementia: genetics / Frontotemporal
                      Dementia: genetics / Genetic Predisposition to Disease /
                      Genome-Wide Association Study / Humans / Lewy Body Disease:
                      genetics / Longevity: genetics / Microglia: metabolism /
                      Multiple Sclerosis: genetics / Mutation / Neuroimaging /
                      Parkinson Disease: genetics / Phospholipase C gamma:
                      genetics / Risk},
      cin          = {AG Wagner / AG Heutink 1 / U Clinical Researchers - Bonn},
      ddc          = {610},
      cid          = {I:(DE-2719)1011201 / I:(DE-2719)1210002 /
                      I:(DE-2719)7000001},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 345 -
                      Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31131421},
      pmc          = {pmc:PMC6660501},
      doi          = {10.1007/s00401-019-02026-8},
      url          = {https://pub.dzne.de/record/140840},
}