Jansen, Ris E., van der Lee, Sven J., Gomez-Fonseca, Duber, de Rojas, Itziar, Dalmasso, Maria Carolina ORCID: 0000-0002-4901-9955, Grenier-Boley, Benjamin, Zettergren, Anna, Mishra, Aniket ORCID: 0000-0002-8141-1543, Ali, Muhammad ORCID: 0000-0002-1399-6631, Andrade, Victor, Bellenguez, Celine ORCID: 0000-0002-1240-7874, Kleineidam, Luca, Kucukali, Fahri, Sung, Yun Ju, Tesi, Niccolo, Vromen, Ellen M., Wightman, Douglas P., Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Amouyel, Philippe, Athanasiu, Lavinia ORCID: 0000-0002-3321-6997, Bahrami, Shahram, Bailly, Henri, Belbin, Olivia, Bergh, Sverre, Bertram, Lars ORCID: 0000-0002-0108-124X, Biessels, Geert Jan, Blennow, Kaj, Blesa, Rafael, Boada, Merce, Boland, Anne, Buerger, Katharina, Carracedo, Angel ORCID: 0000-0003-1085-8986, Cervera-Carles, Laura ORCID: 0000-0003-2286-200X, Chene, Genevieve, Claassen, Jurgen A. H. R., Debette, Stephanie, Deleuze, Jean-Francois, de Deyn, Peter Paul, Diehl-Schmid, Janine, Djurovic, Srdjan, Dols-Icardo, Oriol ORCID: 0000-0003-2656-8748, Dufouil, Carole, Duron, Emmanuelle, Duezel, Emrah, Fladby, Tormod, Fortea, Juan, Froelich, Lutz, Garcia-Gonzalez, Pablo, Garcia-Martinez, Maria, Giegling, Ina, Goldhardt, Oliver, Gobom, Johan ORCID: 0000-0001-6193-6193, Grimmer, Timo, Haapasalo, Annakaisa, Hampel, Harald ORCID: 0000-0003-0894-8982, Hanon, Olivier ORCID: 0000-0002-4697-122X, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernandez, Isabel, Herukka, Sanna-Kaisa, Holstege, Henne, Jarholm, Jonas, Kern, Silke, Knapskog, Anne-Brita, Koivisto, Anne M., Kornhuber, Johannes, Kuulasmaa, Teemu, Lage, Carmen, Laske, Christoph, Leinonen, Ville, Lewczuk, Piotr, Lleo, Alberto, de Munain, Adolfo Lopez, Lopez-Garcia, Sara, Maier, Wolfgang, Marquie, Marta, Mol, Merel O., Montrreal, Laura, Moreno, Fermin, Moreno-Grau, Sonia, Nicolas, Gael, Nothen, Markus M., Orellana, Adelina, Palhaugen, Lene, Papma, Janne M., Pasquier, Florence, Perneczky, Robert, Peters, Oliver ORCID: 0000-0003-0568-2998, Pijnenburg, Yolande A. L., Popp, Julius ORCID: 0000-0002-0068-0312, Posthuma, Danielle ORCID: 0000-0001-7582-2365, Pozueta, Ana, Priller, Josef, Puerta, Raquel ORCID: 0000-0002-1191-5893, Quintela, Ines, Ramakers, Inez, Rodriguez-Rodriguez, Eloy ORCID: 0000-0001-7742-677X, Rujescu, Dan, Saltvedt, Ingvild, Sanchez-Juan, Pascual, Scheltens, Philip, Scherbaum, Norbert, Schmid, Matthias, Schneider, Anja ORCID: 0000-0001-9540-8700, Selbaek, Geir, Selnes, Per ORCID: 0000-0001-5131-9757, Shadrin, Alexey, Skoog, Ingmar, Soininen, Hilkka, Tarraga, Lluis, Teipel, Stefan, Tijms, Betty, Tsolaki, Magda, Van Broeckhoven, Christine, Van Dongen, Jasper, van Swieten, John C., Vandenberghe, Rik, Vidal, Jean-Sebastien ORCID: 0000-0001-6770-0720, Visser, Pieter J., Vogelgsang, Jonathan ORCID: 0000-0001-9326-8193, Waern, Margda, Wagner, Michael, Wiltfang, Jens, Wittens, Mandy M. J., Zetterberg, Henrik, Zulaica, Miren, van Duijn, Cornelia M., Bjerke, Maria, Engelborghs, Sebastiaan, Jessen, Frank, Teunissen, Charlotte E., Pastor, Pau ORCID: 0000-0002-7493-8777, Hiltunen, Mikko, Ingelsson, Martin, Andreassen, Ole A., Clarimon, Jordi, Sleegers, Kristel, Ruiz, Agustin, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Cruchaga, Carlos, Lambert, Jean-Charles and van der Flier, Wiesje (2022). Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers. Acta Neuropathol., 144 (5). S. 821 - 843. NEW YORK: SPRINGER. ISSN 1432-0533

Full text not available from this repository.

Abstract

Amyloid-beta 42 (A beta 42) 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 A beta 42 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 A beta 42 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Jansen, Ris E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Lee, Sven J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gomez-Fonseca, DuberUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Rojas, ItziarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dalmasso, Maria CarolinaUNSPECIFIEDorcid.org/0000-0002-4901-9955UNSPECIFIED
Grenier-Boley, BenjaminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zettergren, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mishra, AniketUNSPECIFIEDorcid.org/0000-0002-8141-1543UNSPECIFIED
Ali, MuhammadUNSPECIFIEDorcid.org/0000-0002-1399-6631UNSPECIFIED
Andrade, VictorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellenguez, CelineUNSPECIFIEDorcid.org/0000-0002-1240-7874UNSPECIFIED
Kleineidam, LucaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kucukali, FahriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sung, Yun JuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tesi, NiccoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vromen, Ellen M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wightman, Douglas P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alcolea, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alegret, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alvarez, IgnacioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Amouyel, PhilippeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Athanasiu, LaviniaUNSPECIFIEDorcid.org/0000-0002-3321-6997UNSPECIFIED
Bahrami, ShahramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bailly, HenriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Belbin, OliviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergh, SverreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertram, LarsUNSPECIFIEDorcid.org/0000-0002-0108-124XUNSPECIFIED
Biessels, Geert JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blennow, KajUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blesa, RafaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boada, MerceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boland, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buerger, KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carracedo, AngelUNSPECIFIEDorcid.org/0000-0003-1085-8986UNSPECIFIED
Cervera-Carles, LauraUNSPECIFIEDorcid.org/0000-0003-2286-200XUNSPECIFIED
Chene, GenevieveUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Claassen, Jurgen A. H. R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Debette, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deleuze, Jean-FrancoisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Deyn, Peter PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diehl-Schmid, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Djurovic, SrdjanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dols-Icardo, OriolUNSPECIFIEDorcid.org/0000-0003-2656-8748UNSPECIFIED
Dufouil, CaroleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duron, EmmanuelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duezel, EmrahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fladby, TormodUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fortea, JuanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Froelich, LutzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Gonzalez, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Martinez, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giegling, InaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldhardt, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gobom, JohanUNSPECIFIEDorcid.org/0000-0001-6193-6193UNSPECIFIED
Grimmer, TimoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haapasalo, AnnakaisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampel, HaraldUNSPECIFIEDorcid.org/0000-0003-0894-8982UNSPECIFIED
Hanon, OlivierUNSPECIFIEDorcid.org/0000-0002-4697-122XUNSPECIFIED
Hausner, LucreziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heilmann-Heimbach, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helisalmi, SeppoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heneka, Michael T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez, IsabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herukka, Sanna-KaisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holstege, HenneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jarholm, JonasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kern, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knapskog, Anne-BritaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koivisto, Anne M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kornhuber, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuulasmaa, TeemuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lage, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laske, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leinonen, VilleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lewczuk, PiotrUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lleo, AlbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Munain, Adolfo LopezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Garcia, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maier, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marquie, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mol, Merel O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montrreal, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moreno, FerminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moreno-Grau, SoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nicolas, GaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orellana, AdelinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palhaugen, LeneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Papma, Janne M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pasquier, FlorenceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perneczky, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peters, OliverUNSPECIFIEDorcid.org/0000-0003-0568-2998UNSPECIFIED
Pijnenburg, Yolande A. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Popp, JuliusUNSPECIFIEDorcid.org/0000-0002-0068-0312UNSPECIFIED
Posthuma, DanielleUNSPECIFIEDorcid.org/0000-0001-7582-2365UNSPECIFIED
Pozueta, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Priller, JosefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Puerta, RaquelUNSPECIFIEDorcid.org/0000-0002-1191-5893UNSPECIFIED
Quintela, InesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramakers, InezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez-Rodriguez, EloyUNSPECIFIEDorcid.org/0000-0001-7742-677XUNSPECIFIED
Rujescu, DanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saltvedt, IngvildUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sanchez-Juan, PascualUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scheltens, PhilipUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scherbaum, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmid, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, AnjaUNSPECIFIEDorcid.org/0000-0001-9540-8700UNSPECIFIED
Selbaek, GeirUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Selnes, PerUNSPECIFIEDorcid.org/0000-0001-5131-9757UNSPECIFIED
Shadrin, AlexeyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Skoog, IngmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soininen, HilkkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tarraga, LluisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teipel, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tijms, BettyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tsolaki, MagdaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Broeckhoven, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Dongen, JasperUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Swieten, John C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vandenberghe, RikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vidal, Jean-SebastienUNSPECIFIEDorcid.org/0000-0001-6770-0720UNSPECIFIED
Visser, Pieter J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vogelgsang, JonathanUNSPECIFIEDorcid.org/0000-0001-9326-8193UNSPECIFIED
Waern, MargdaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagner, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wiltfang, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittens, Mandy M. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zetterberg, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zulaica, MirenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Duijn, Cornelia M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bjerke, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engelborghs, SebastiaanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jessen, FrankUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teunissen, Charlotte E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pastor, PauUNSPECIFIEDorcid.org/0000-0002-7493-8777UNSPECIFIED
Hiltunen, MikkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ingelsson, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andreassen, Ole A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clarimon, JordiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sleegers, KristelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruiz, AgustinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramirez, AlfredoUNSPECIFIEDorcid.org/0000-0003-4991-763XUNSPECIFIED
Cruchaga, CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambert, Jean-CharlesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Flier, WiesjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-699607
DOI: 10.1007/s00401-022-02454-z
Journal or Publication Title: Acta Neuropathol.
Volume: 144
Number: 5
Page Range: S. 821 - 843
Date: 2022
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 1432-0533
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
LD SCORE REGRESSION; AMYLOID-BETA; TAU LEVELS; RISK; GENE; DIAGNOSIS; NEURODEGENERATION; ASSOCIATION; EXPRESSION; MUTATIONSMultiple languages
Clinical Neurology; Neurosciences; PathologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69960

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