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ABCA7 rare variants and Alzheimer disease risk

Abstract : 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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Submitted on : Friday, July 6, 2018 - 11:00:27 AM
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Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, et al.. ABCA7 rare variants and Alzheimer disease risk. Neurology, 2016, Equipe 4, 86 (23), pp.2134--2137. ⟨10.1212/WNL.0000000000002627⟩. ⟨hal-01831744⟩



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