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ABCA7 rare variants and Alzheimer disease risk

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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 | Godefroy, Olivier

Edité par CCSD ; American Academy of Neurology -

International audience. 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 variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). CONCLUSIONS: These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants.

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