Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Abstract Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive...

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Bibliographic Details
Published in:Genome Medicine
Main Authors: Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean-François Deleuze, Robert Olaso, ADES consortium, Flora Alarcon, Dominique Campion, Grégory Nuel, Gaël Nicolas
Format: Article
Language:English
Published: BMC 2022-06-01
Subjects:
Alzheimer
SORL1
APOE
Penetrance
Lifetime risk
Expectation-maximization algorithm
Online Access:https://doi.org/10.1186/s13073-022-01070-6

Internet

https://doi.org/10.1186/s13073-022-01070-6

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