Search: (WFRF:(Blin Olivier)) srt2:(2020) pers:(Tainta Mikel) >
Genome-wide associa...
Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset.
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Hong, Shengjun (author)
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Prokopenko, Dmitry (author)
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Dobricic, Valerija (author)
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Kilpert, Fabian (author)
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Bos, Isabelle (author)
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Vos, Stephanie J B (author)
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Tijms, Betty M (author)
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- Andreasson, Ulf, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Blennow, Kaj, 1958 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Vandenberghe, Rik (author)
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Cleynen, Isabelle (author)
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Gabel, Silvy (author)
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Schaeverbeke, Jolien (author)
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Scheltens, Philip (author)
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Teunissen, Charlotte E (author)
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Niemantsverdriet, Ellis (author)
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Engelborghs, Sebastiaan (author)
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Frisoni, Giovanni (author)
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Blin, Olivier (author)
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Richardson, Jill C (author)
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Bordet, Regis (author)
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Molinuevo, José Luis (author)
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Rami, Lorena (author)
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- Kettunen, Petronella (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Wallin, Anders, 1950 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Lleó, Alberto (author)
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Sala, Isabel (author)
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- Popp, Julius (author)
- Karolinska Institutet
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Peyratout, Gwendoline (author)
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Martinez-Lage, Pablo (author)
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Tainta, Mikel (author)
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Dobson, Richard J B (author)
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Legido-Quigley, Cristina (author)
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Sleegers, Kristel (author)
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Van Broeckhoven, Christine (author)
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Ten Kate, Mara (author)
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Barkhof, Frederik (author)
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Lovestone, Simon (author)
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Streffer, Johannes (author)
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Wittig, Michael (author)
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Franke, Andre (author)
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Tanzi, Rudolph E (author)
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Visser, Pieter Jelle (author)
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Bertram, Lars (author)
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(creator_code:org_t)
- 2020-11-22
- 2020
- English.
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In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 10:1
- Related links:
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https://www.nature.c...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Susceptibility to AD is considerably determined by genetic factors which hitherto were primarily identified using case-control designs. Elucidating the genetic architecture of additional AD-related phenotypic traits, ideally those linked to the underlying disease process, holds great promise in gaining deeper insights into the genetic basis of AD and in developing better clinical prediction models. To this end, we generated genome-wide single-nucleotide polymorphism (SNP) genotyping data in 931 participants of the European Medical Information Framework Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) sample to search for novel genetic determinants of AD biomarker variability. Specifically, we performed genome-wide association study (GWAS) analyses on 16 traits, including 14 measures derived from quantifications of five separate amyloid-beta (Aβ) and tau-protein species in the cerebrospinal fluid (CSF). In addition to confirming the well-established effects of apolipoprotein E (APOE) on diagnostic outcome and phenotypes related to Aβ42, we detected novel potential signals in the zinc finger homeobox 3 (ZFHX3) for CSF-Aβ38 and CSF-Aβ40 levels, and confirmed the previously described sex-specific association between SNPs in geminin coiled-coil domain containing (GMNC) and CSF-tau. Utilizing the results from independent case-control AD GWAS to construct polygenic risk scores (PRS) revealed that AD risk variants only explain a small fraction of CSF biomarker variability. In conclusion, our study represents a detailed first account of GWAS analyses on CSF-Aβ and -tau-related traits in the EMIF-AD MBD dataset. In subsequent work, we will utilize the genomics data generated here in GWAS of other AD-relevant clinical outcomes ascertained in this unique dataset.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Hong, Shengjun
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Prokopenko, Dmit ...
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Dobricic, Valeri ...
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Kilpert, Fabian
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Bos, Isabelle
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Vos, Stephanie J ...
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show more...
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Tijms, Betty M
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Andreasson, Ulf, ...
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Blennow, Kaj, 19 ...
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Vandenberghe, Ri ...
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Cleynen, Isabell ...
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Gabel, Silvy
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Schaeverbeke, Jo ...
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Scheltens, Phili ...
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Teunissen, Charl ...
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Niemantsverdriet ...
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Engelborghs, Seb ...
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Frisoni, Giovann ...
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Blin, Olivier
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Richardson, Jill ...
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Bordet, Regis
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Molinuevo, José ...
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Rami, Lorena
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Kettunen, Petron ...
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Wallin, Anders, ...
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Lleó, Alberto
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Sala, Isabel
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Popp, Julius
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Peyratout, Gwend ...
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Martinez-Lage, P ...
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Tainta, Mikel
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Dobson, Richard ...
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Legido-Quigley, ...
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Sleegers, Kriste ...
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Van Broeckhoven, ...
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Ten Kate, Mara
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Barkhof, Frederi ...
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Zetterberg, Henr ...
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Lovestone, Simon
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Streffer, Johann ...
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Wittig, Michael
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Franke, Andre
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Tanzi, Rudolph E
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Visser, Pieter J ...
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Bertram, Lars
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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Translational ps ...
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University of Gothenburg
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Karolinska Institutet