ABCA7 rare variants and Alzheimer disease risk

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


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.

Publication types

  • Meta-Analysis

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Alzheimer Disease / genetics*
  • Belgium
  • Case-Control Studies
  • Exome
  • France
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation*


  • ABCA7 protein, human
  • ATP-Binding Cassette Transporters