Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits.

doi:10.1002/alz.12842

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Article

Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Jun 2023

Küçükali Fahri, Neumann Alexander, Van Dongen Jasper, De Pooter Tim, Joris Geert, De Rijk Peter, Ohlei Olena, Dobricic Valerija, Bos Isabelle, Vos Stephanie J B, Engelborghs Sebastiaan, De Roeck Ellen, Vandenberghe Rik, Gabel Silvy, Meersmans Karen, Tsolaki Magda, Verhey Frans, Martinez-Lage Pablo, Tainta Mikel, Frisoni Giovanni, Blin Oliver, Richardson Jill C, Bordet Régis, Scheltens Philip, Popp Julius, Peyratout Gwendoline, Johannsen Peter, Frölich Lutz, Freund-Levi Yvonne, Streffer Johannes, Lovestone Simon, Legido-Quigley Cristina, Kate Mara Ten, Barkhof Frederik, Zetterberg Henrik, Bertram Lars, Strazisar Mojca, Visser Pieter Jelle, Van Broeckhoven Christine, Sleegers Kristel

Abstract excerpt

INTRODUCTION: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes. METHODS: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated...

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Identifiers

PMID: 36464806
DOI: 10.1002/alz.12842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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