A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

Autor: Hartl, Daniela, May, Patrick, Gu, Wei, Mayhaus, Manuel, Pichler, Sabrina, Spaniol, Christian, Glaab, Enrico, Bobbili, Dheeraj Reddy, Antony, Paul, Koegelsberger, Sandra, Kurz, Alexander, Grimmer, Timo, Morgan, Kevin, Vardarajan, Badri N., Reitz, Christiane, Hardy, John, Bras, Jose, Guerreiro, Rita, Balling, Rudi, Schneider, Jochen G., Riemenschneider, Matthias

Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally importan

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A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Autor: Hartl D; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany. daniela.hartl@uks.eu., May P; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Institute for Systems Biology, Seattle, WA, USA., Gu W; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany.; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Mayhaus M; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany., Pichler S; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany., Spaniol C; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany., Glaab E; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Bobbili DR; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Antony P; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Koegelsberger S; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Kurz A; Department of Psychiatry and Psychotherapy, Klinikum Rechts der Isar, TU-Muenchen, Munich, Germany., Grimmer T; Department of Psychiatry and Psychotherapy, Klinikum Rechts der Isar, TU-Muenchen, Munich, Germany., Morgan K; School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK., Vardarajan BN; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York City, NY, USA.; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York City, NY, USA.; Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York City, NY, USA., Reitz C; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York City, NY, USA.; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York City, NY, USA.; Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York City, NY, USA.; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York City, NY, USA., Hardy J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK., Bras J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.; UK Dementia Research Institute at UCL (UK DRI), London, UK.; Department of Medical Sciences, Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal., Guerreiro R; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.; UK Dementia Research Institute at UCL (UK DRI), London, UK.; Department of Medical Sciences, Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal., Balling R; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Schneider JG; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany.; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg., Riemenschneider M; Department of Psychiatry and Psychotherapy, Saarland University Hospital, Saarland University, Homburg, Germany.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2020 Mar; Vol. 25 (3), pp. 629-639. Date of Electronic Publication: 2018 Jul 09.