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Risk of dementia in APOE ε4 carriers is mitigated by a polygenic risk score.
Ebenau, Jarith L; van der Lee, Sven J; Hulsman, Marc; Tesi, Niccolò; Jansen, Iris E; Verberk, Inge M W; van Leeuwenstijn, Mardou; Teunissen, Charlotte E; Barkhof, Frederik; Prins, Niels D; Scheltens, Philip; Holstege, Henne; van Berckel, Bart N M; van der Flier, Wiesje M.
Afiliación
  • Ebenau JL; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • van der Lee SJ; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • Hulsman M; Department of Clinical Genetics Amsterdam UMC Amsterdam the Netherlands.
  • Tesi N; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • Jansen IE; Department of Clinical Genetics Amsterdam UMC Amsterdam the Netherlands.
  • Verberk IMW; Delft Bioinformatics Lab Delft University of Technology Delft the Netherlands.
  • van Leeuwenstijn M; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • Teunissen CE; Department of Clinical Genetics Amsterdam UMC Amsterdam the Netherlands.
  • Barkhof F; Delft Bioinformatics Lab Delft University of Technology Delft the Netherlands.
  • Prins ND; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • Scheltens P; Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam the Netherlands.
  • Holstege H; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • van Berckel BNM; Neurochemistry Laboratory Department of Clinical Chemistry Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
  • van der Flier WM; Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam the Netherlands.
Alzheimers Dement (Amst) ; 13(1): e12229, 2021.
Article en En | MEDLINE | ID: mdl-34541285
INTRODUCTION: We investigated relationships among genetic determinants of Alzheimer's disease (AD), amyloid/tau/neurodegenaration (ATN) biomarkers, and risk of dementia. METHODS: We studied cognitively normal individuals with subjective cognitive decline (SCD) from the Amsterdam Dementia Cohort and SCIENCe project. We examined associations between genetic variants and ATN biomarkers, and evaluated their predictive value for incident dementia. A polygenic risk score (PRS) was calculated based on 39 genetic variants. The APOE gene was not included in the PRS and was analyzed separately. RESULTS: The PRS and APOE ε4 were associated with amyloid-positive ATN profiles, and APOE ε4 additionally with isolated increased tau (A-T+N-). A high PRS and APOE ε4 separately predicted AD dementia. Combined, a high PRS increased while a low PRS attenuated the risk associated with ε4 carriers. DISCUSSION: Genetic variants beyond APOE are clinically relevant and contribute to the pathophysiology of AD. In the future, a PRS might be used in individualized risk profiling.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Alzheimers Dement (Amst) Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Alzheimers Dement (Amst) Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos