ABCA7 rare variants and Alzheimer disease risk.
Ontology highlight
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.
SUBMITTER: Le Guennec K
PROVIDER: S-EPMC4898320 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
ABCA7 rare variants and Alzheimer disease risk.
Le Guennec Kilan K Nicolas Gaël G Quenez Olivier O Charbonnier Camille C Wallon David D Bellenguez Céline C Grenier-Boley Benjamin B Rousseau Stéphane S Richard Anne-Claire AC Rovelet-Lecrux Anne A Bacq Delphine D Garnier Jean-Guillaume JG Olaso Robert R Boland Anne A Meyer Vincent V Deleuze Jean-François JF Amouyel Philippe P Munter Hans Markus HM Bourque Guillaume G Lathrop Mark M Frebourg Thierry T Redon Richard R Letenneur Luc L Dartigues Jean-François JF Pasquier Florence F Rollin-Sillaire Adeline A Génin Emmanuelle E Lambert Jean-Charles JC Hannequin Didier D Campion Dominique D
Neurology 20160401 23
<h4>Objective</h4>To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting.<h4>Methods</h4>We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls.<h4>Results</h4>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 ...[more]
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