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Article

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

Genome medicine - 28 Jun 2022

Schramm Catherine, Charbonnier Camille, Zaréa Aline, Lacour Morgane, Wallon David, Boland Anne, Deleuze Jean-François, Olaso Robert, Alarcon Flora, Campion Dominique, Nuel Grégory, Nicolas Gaël

Abstract excerpt

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 trials. However, relative rarity and co-occurrence with the main AD risk factor, APOE-ε4, make such estimations difficult....

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Identifiers

PMID: 35761418
DOI: 10.1186/s13073-022-01070-6
PMCID: PMC9238165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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