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Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.

ABCA7 rare variants and Alzheimer disease risk.

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From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.



To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting.


We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls.


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)).


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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