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.