ABCA7 rare variants and Alzheimer disease risk.

doi:10.1212/WNL.0000000000002627

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Article

ABCA7 rare variants and Alzheimer disease risk.

Neurology - 7 Jun 2016

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

Abstract excerpt

OBJECTIVE: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. METHODS: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. RESULTS: After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense...

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Identifiers

PMID: 27037229
DOI: 10.1212/WNL.0000000000002627
PMCID: PMC4898320

Genes

ABCA7

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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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