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
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Jansen, Ris E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van der Lee, Sven J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gomez-Fonseca, Duber | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Rojas, Itziar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dalmasso, Maria Carolina | UNSPECIFIED | orcid.org/0000-0002-4901-9955 | UNSPECIFIED | Grenier-Boley, Benjamin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zettergren, Anna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mishra, Aniket | UNSPECIFIED | orcid.org/0000-0002-8141-1543 | UNSPECIFIED | Ali, Muhammad | UNSPECIFIED | orcid.org/0000-0002-1399-6631 | UNSPECIFIED | Andrade, Victor | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bellenguez, Celine | UNSPECIFIED | orcid.org/0000-0002-1240-7874 | UNSPECIFIED | Kleineidam, Luca | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kucukali, Fahri | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sung, Yun Ju | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tesi, Niccolo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vromen, Ellen M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wightman, Douglas P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alcolea, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alegret, Montserrat | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alvarez, Ignacio | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Amouyel, Philippe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Athanasiu, Lavinia | UNSPECIFIED | orcid.org/0000-0002-3321-6997 | UNSPECIFIED | Bahrami, Shahram | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bailly, Henri | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Belbin, Olivia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bergh, Sverre | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bertram, Lars | UNSPECIFIED | orcid.org/0000-0002-0108-124X | UNSPECIFIED | Biessels, Geert Jan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blennow, Kaj | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blesa, Rafael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boada, Merce | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boland, Anne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Buerger, Katharina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carracedo, Angel | UNSPECIFIED | orcid.org/0000-0003-1085-8986 | UNSPECIFIED | Cervera-Carles, Laura | UNSPECIFIED | orcid.org/0000-0003-2286-200X | UNSPECIFIED | Chene, Genevieve | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Claassen, Jurgen A. H. R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Debette, Stephanie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Deleuze, Jean-Francois | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Deyn, Peter Paul | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Diehl-Schmid, Janine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Djurovic, Srdjan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dols-Icardo, Oriol | UNSPECIFIED | orcid.org/0000-0003-2656-8748 | UNSPECIFIED | Dufouil, Carole | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Duron, Emmanuelle | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Duezel, Emrah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fladby, Tormod | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fortea, Juan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Froelich, Lutz | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Gonzalez, Pablo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Martinez, Maria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giegling, Ina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldhardt, Oliver | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gobom, Johan | UNSPECIFIED | orcid.org/0000-0001-6193-6193 | UNSPECIFIED | Grimmer, Timo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haapasalo, Annakaisa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hampel, Harald | UNSPECIFIED | orcid.org/0000-0003-0894-8982 | UNSPECIFIED | Hanon, Olivier | UNSPECIFIED | orcid.org/0000-0002-4697-122X | UNSPECIFIED | Hausner, Lucrezia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Heilmann-Heimbach, Stefanie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Helisalmi, Seppo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Heneka, Michael T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hernandez, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Herukka, Sanna-Kaisa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Holstege, Henne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jarholm, Jonas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kern, Silke | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Knapskog, Anne-Brita | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Koivisto, Anne M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kornhuber, Johannes | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kuulasmaa, Teemu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lage, Carmen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Laske, Christoph | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Leinonen, Ville | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lewczuk, Piotr | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lleo, Alberto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de Munain, Adolfo Lopez | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lopez-Garcia, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Maier, Wolfgang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marquie, Marta | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mol, Merel O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Montrreal, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Moreno, Fermin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Moreno-Grau, Sonia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nicolas, Gael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nothen, Markus M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Orellana, Adelina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Palhaugen, Lene | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Papma, Janne M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pasquier, Florence | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Perneczky, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peters, Oliver | UNSPECIFIED | orcid.org/0000-0003-0568-2998 | UNSPECIFIED | Pijnenburg, Yolande A. L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Popp, Julius | UNSPECIFIED | orcid.org/0000-0002-0068-0312 | UNSPECIFIED | Posthuma, Danielle | UNSPECIFIED | orcid.org/0000-0001-7582-2365 | UNSPECIFIED | Pozueta, Ana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Priller, Josef | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Puerta, Raquel | UNSPECIFIED | orcid.org/0000-0002-1191-5893 | UNSPECIFIED | Quintela, Ines | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ramakers, Inez | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rodriguez-Rodriguez, Eloy | UNSPECIFIED | orcid.org/0000-0001-7742-677X | UNSPECIFIED | Rujescu, Dan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Saltvedt, Ingvild | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sanchez-Juan, Pascual | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scheltens, Philip | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scherbaum, Norbert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmid, Matthias | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schneider, Anja | UNSPECIFIED | orcid.org/0000-0001-9540-8700 | UNSPECIFIED | Selbaek, Geir | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Selnes, Per | UNSPECIFIED | orcid.org/0000-0001-5131-9757 | UNSPECIFIED | Shadrin, Alexey | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Skoog, Ingmar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Soininen, Hilkka | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tarraga, Lluis | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teipel, Stefan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tijms, Betty | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tsolaki, Magda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Van Broeckhoven, Christine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Van Dongen, Jasper | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van Swieten, John C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vandenberghe, Rik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vidal, Jean-Sebastien | UNSPECIFIED | orcid.org/0000-0001-6770-0720 | UNSPECIFIED | Visser, Pieter J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vogelgsang, Jonathan | UNSPECIFIED | orcid.org/0000-0001-9326-8193 | UNSPECIFIED | Waern, Margda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wagner, Michael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wiltfang, Jens | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wittens, Mandy M. J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zetterberg, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zulaica, Miren | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van Duijn, Cornelia M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bjerke, Maria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Engelborghs, Sebastiaan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jessen, Frank | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teunissen, Charlotte E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pastor, Pau | UNSPECIFIED | orcid.org/0000-0002-7493-8777 | UNSPECIFIED | Hiltunen, Mikko | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ingelsson, Martin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andreassen, Ole A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Clarimon, Jordi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sleegers, Kristel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ruiz, Agustin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ramirez, Alfredo | UNSPECIFIED | orcid.org/0000-0003-4991-763X | UNSPECIFIED | Cruchaga, Carlos | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambert, Jean-Charles | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | van der Flier, Wiesje | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
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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: |
Keywords | Language |
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LD SCORE REGRESSION; AMYLOID-BETA; TAU LEVELS; RISK; GENE; DIAGNOSIS; NEURODEGENERATION; ASSOCIATION; EXPRESSION; MUTATIONS | Multiple languages | Clinical Neurology; Neurosciences; Pathology | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/69960 |
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