Document detail
ID
oai:HAL:hal-03902957v1
Topic
GWAS Alzheimer’s disease Cerebrospinal fluid Amyloid-beta Tau [SDV.SPEE]Life Sciences [q-bio]/Sa...Author
Jansen, Iris E. van der Lee, Sven J Gomez-Fonseca, Duber de Rojas, Itziar Dalmasso, Maria Carolina Grenier-Boley, Benjamin Zettergren, Anna Mishra, Aniket Ali, Muhammad Andrade, Victor Bellenguez, Celine 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 Bahrami, Shahram Bailly, Henri Belbin, Olivia Bergh, Sverre Bertram, Lars Biessels, Geert Jan Blennow, Kaj Blesa, Rafael Boada, Merce Boland, Anne Buerger, Katharina Carracedo, Angel Cervera-Carles, Laura Chene, Genevieve Claassen, Jurgen A. H. R. Debette, Stephanie Deleuze, Jean-Francois de Deyn, Peter Paul Diehl-Schmid, Janine Djurovic, Srdjan Dols-Icardo, Oriol Dufouil, Carole Duron, Emmanuelle Duzel, Emrah Fladby, Tormod Fortea, Juan Frolich, Lutz Garcia-Gonzalez, Pablo Garcia-Martinez, Maria Giegling, Ina Goldhardt, Oliver Gobom, Johan Grimmer, Timo Haapasalo, Annakaisa Hampel, Harald Hanon, Olivier 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 Pijnenburg, Yolande A. L. Popp, Julius Posthuma, Danielle Pozueta, Ana Priller, Josef Puerta, Raquel Quintela, Ines Ramakers, Inez Rodriguez-Rodriguez, Eloy Rujescu, Dan Saltvedt, Ingvild Sanchez-Juan, Pascual Scheltens, Philip Scherbaum, Norbert Schmid, Matthias Schneider, Anja Selbaek, Geir Selnes, Per 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 Visser, Pieter J. Vogelgsang, Jonathan 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 Hiltunen, Mikko Ingelsson, Martin Andreassen, Ole A. Clarimon, Jordi Sleegers, Kristel Ruiz, Agustin Ramirez, Alfredo Cruchaga, Carlos Lambert, Jean-Charles van der Flier, WiesjeLangue
enEditor
HAL CCSD;Springer Verlag
Category
sciences: life sciences
Year
2022
listing date
12/8/2023
Keywords
fluid cerebrospinal levels loci tau alzheimer diseaseAbstract
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.
Jansen, Iris E.,van der Lee, Sven J,Gomez-Fonseca, Duber,de Rojas, Itziar,Dalmasso, Maria Carolina,Grenier-Boley, Benjamin,Zettergren, Anna,Mishra, Aniket,Ali, Muhammad,Andrade, Victor,Bellenguez, Celine,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,Bahrami, Shahram,Bailly, Henri,Belbin, Olivia,Bergh, Sverre,Bertram, Lars,Biessels, Geert Jan,Blennow, Kaj,Blesa, Rafael,Boada, Merce,Boland, Anne,Buerger, Katharina,Carracedo, Angel,Cervera-Carles, Laura,Chene, Genevieve,Claassen, Jurgen A. H. R.,Debette, Stephanie,Deleuze, Jean-Francois,de Deyn, Peter Paul,Diehl-Schmid, Janine,Djurovic, Srdjan,Dols-Icardo, Oriol,Dufouil, Carole,Duron, Emmanuelle,Duzel, Emrah,Fladby, Tormod,Fortea, Juan,Frolich, Lutz,Garcia-Gonzalez, Pablo,Garcia-Martinez, Maria,Giegling, Ina,Goldhardt, Oliver,Gobom, Johan,Grimmer, Timo,Haapasalo, Annakaisa,Hampel, Harald,Hanon, Olivier,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,Pijnenburg, Yolande A. L.,Popp, Julius,Posthuma, Danielle,Pozueta, Ana,Priller, Josef,Puerta, Raquel,Quintela, Ines,Ramakers, Inez,Rodriguez-Rodriguez, Eloy,Rujescu, Dan,Saltvedt, Ingvild,Sanchez-Juan, Pascual,Scheltens, Philip,Scherbaum, Norbert,Schmid, Matthias,Schneider, Anja,Selbaek, Geir,Selnes, Per,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,Visser, Pieter J.,Vogelgsang, Jonathan,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,Hiltunen, Mikko,Ingelsson, Martin,Andreassen, Ole A.,Clarimon, Jordi,Sleegers, Kristel,Ruiz, Agustin,Ramirez, Alfredo,Cruchaga, Carlos,Lambert, Jean-Charles,van der Flier, Wiesje, 2022, Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers, HAL CCSD;Springer Verlag
