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@ARTICLE{Jansen:165248,
author = {Jansen, Iris and van der Lee, Sven J and Gomez-Fonseca,
Duber and de Rojas, Itziar and Dalmasso, Maria Carolina and
Grenier-Boley, Benjamin and Zettergren, Anna and Mishra,
Aniket and Ali, Muhammad and Andrade, Victor and Bellenguez,
Céline and Kleineidam, Luca and Küçükali, Fahri and
Sung, Yun Ju and Tesí, Niccolo and Vromen, Ellen M and
Wightman, Douglas P and Alcolea, Daniel and Alegret,
Montserrat and Alvarez, Ignacio and Amouyel, Philippe and
Athanasiu, Lavinia and Bahrami, Shahram and Bailly, Henri
and Belbin, Olivia and Bergh, Sverre and Bertram, Lars and
Biessels, Geert Jan and Blennow, Kaj and Blesa, Rafael and
Boada, Mercè and Boland, Anne and Bürger, Katharina and
Carracedo, Ángel and Cervera-Carles, Laura and Chene,
Geneviève and Claassen, Jurgen A H R and Debette, Stephanie
and Deleuze, Jean-Francois and de Deyn, Peter Paul and
Diehl-Schmid, Janine and Djurovic, Srdjan and Dols-Icardo,
Oriol and Dufouil, Carole and Duron, Emmanuelle and Düzel,
Emrah and Fladby, Tormod and Fortea, Juan and Frölich, Lutz
and García-González, Pablo and Garcia-Martinez, Maria and
Giegling, Ina and Goldhardt, Oliver and Gobom, Johan and
Grimmer, Timo and Haapasalo, Annakaisa and Hampel, Harald
and Hanon, Olivier and Hausner, Lucrezia and
Heilmann-Heimbach, Stefanie and Helisalmi, Seppo and Heneka,
Michael and Hernández, Isabel and Herukka, Sanna-Kaisa and
Holstege, Henne and Jarholm, Jonas and Kern, Silke and
Knapskog, Anne-Brita and Koivisto, Anne M and Kornhuber,
Johannes and Kuulasmaa, Teemu and Lage, Carmen and Laske,
Christoph and Leinonen, Ville and Lewczuk, Piotr and Lleó,
Alberto and de Munain, Adolfo López and Lopez-Garcia, Sara
and Maier, Wolfgang and Marquié, Marta and Mol, Merel O and
Montrreal, Laura and Moreno, Fermin and Moreno-Grau, Sonia
and Nicolas, Gael and Nöthen, Markus M and Orellana,
Adelina and Pålhaugen, Lene and Papma, Janne M and
Pasquier, Florence and Perneczky, Robert and Peters, Oliver
and Pijnenburg, Yolande A L and Popp, Julius and Posthuma,
Danielle and Pozueta, Ana and Priller, Josef and Puerta,
Raquel and Quintela, Inés and Ramakers, Inez and
Rodriguez-Rodriguez, Eloy and Rujescu, Dan and Saltvedt,
Ingvild and Sanchez-Juan, Pascual and Scheltens, Philip and
Scherbaum, Norbert and Schmid, Matthias and Schneider, Anja
and Selbæk, Geir and Selnes, Per and Shadrin, Alexey and
Skoog, Ingmar and Soininen, Hilkka and Tárraga, Lluís and
Teipel, Stefan and Tijms, Betty and Tsolaki, Magda and Van
Broeckhoven, Christine and Van Dongen, Jasper and van
Swieten, John C and Vandenberghe, Rik and Vidal,
Jean-Sébastien and Visser, Pieter J and Vogelgsang,
Jonathan and Waern, Margda and Wagner, Michael and Wiltfang,
Jens and Wittens, Mandy M J and Zetterberg, Henrik and
Zulaica, Miren and van Duijn, Cornelia M and Bjerke, Maria
and Engelborghs, Sebastiaan and Jessen, Frank and Teunissen,
Charlotte E and Pastor, Pau and Hiltunen, Mikko and
Ingelsson, Martin and Andreassen, Ole A and Clarimón, Jordi
and Sleegers, Kristel and Ruiz, Agustín and Ramirez,
Alfredo and Cruchaga, Carlos and Lambert, Jean-Charles and
van der Flier, Wiesje},
collaboration = {consortium, EADB and group, GR@ACE study},
title = {{G}enome-wide meta-analysis for {A}lzheimer's disease
cerebrospinal fluid biomarkers.},
journal = {Acta neuropathologica},
volume = {144},
number = {5},
issn = {0001-6322},
address = {Heidelberg},
publisher = {Springer},
reportid = {DZNE-2022-01541},
pages = {821 - 842},
year = {2022},
note = {CC BY: https://creativecommons.org/licenses/by/4.0/},
abstract = {Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau)
levels in cerebrospinal fluid (CSF) reflect core features of
the pathogenesis of Alzheimer's disease (AD) more directly
than clinical diagnosis. Initiated by the European Alzheimer
$\&$ Dementia Biobank (EADB), the largest collaborative
effort on genetics underlying CSF biomarkers was
established, including 31 cohorts with a total of 13,116
individuals (discovery n = 8074; replication n = 5042
individuals). Besides the APOE locus, novel associations
with two other well-established AD risk loci were observed;
CR1 was shown a locus for Aβ42 and BIN1 for pTau. GMNC and
C16orf95 were further identified as loci for pTau, of which
the latter is novel. Clustering methods exploring the
influence of all known AD risk loci on the CSF protein
levels, revealed 4 biological categories suggesting multiple
Aβ42 and pTau related biological pathways involved in the
etiology of AD. In functional follow-up analyses, GMNC and
C16orf95 both associated with lateral ventricular volume,
implying an overlap in genetic etiology for tau levels and
brain ventricular volume.},
keywords = {Alzheimer Disease: pathology / Amyloid beta-Peptides:
cerebrospinal fluid / Apolipoproteins E: genetics /
Biomarkers: cerebrospinal fluid / Cell Cycle Proteins /
Humans / Peptide Fragments: cerebrospinal fluid / tau
Proteins: cerebrospinal fluid / tau Proteins: genetics /
Alzheimer’s disease (Other) / Amyloid-beta (Other) /
Cerebrospinal fluid (Other) / GWAS (Other) / Tau (Other)},
cin = {AG Wagner / AG Dichgans / AG Düzel / Biomarker / AG Gasser
/ AG Endres / AG Priller / AG Schneider / AG Teipel / AG
Jessen / AG Wiltfang / Patient Studies Bonn},
ddc = {610},
cid = {I:(DE-2719)1011201 / I:(DE-2719)5000022 /
I:(DE-2719)5000006 / I:(DE-2719)1011301 / I:(DE-2719)1210000
/ I:(DE-2719)1811005 / I:(DE-2719)5000007 /
I:(DE-2719)1011305 / I:(DE-2719)1510100 / I:(DE-2719)1011102
/ I:(DE-2719)1410006 / I:(DE-2719)1011101},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC9547780},
pubmed = {pmid:36066633},
doi = {10.1007/s00401-022-02454-z},
url = {https://pub.dzne.de/record/165248},
}
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