Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

doi:10.1016/j.neurobiolaging.2017.07.001

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Article

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

Neurobiology of aging - 1 Nov 2017

Bellenguez Céline, Charbonnier Camille, Grenier-Boley Benjamin, Quenez Olivier, Le Guennec Kilan, Nicolas Gaël, Chauhan Ganesh, Wallon David, Rousseau Stéphane, Richard Anne Claire, Boland Anne, Bourque Guillaume, Munter Hans Markus, Olaso Robert, Meyer Vincent, Rollin-Sillaire Adeline, Pasquier Florence, Letenneur Luc, Redon Richard, Dartigues Jean-François, Tzourio Christophe, Frebourg Thierry, Lathrop Mark, Deleuze Jean-François, Hannequin Didier, Genin Emmanuelle, Amouyel Philippe, Debette Stéphanie, Lambert Jean-Charles, Campion Dominique

Abstract excerpt

We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found...

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Identifiers

PMID: 28789839
DOI: 10.1016/j.neurobiolaging.2017.07.001

Genes

TREM2
ABCA7
SORL1
APOE

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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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