ABCA7 loss-of-function variants, expression, and neurologic disease risk.

ABSTRACT:

Objective

To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk.

Methods

We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis groups. We measured brain ABCA7 protein and messenger RNA (mRNA) levels using Western blot and quantitative PCR, respectively, in 11 carriers of the 3 most common variants, and sequenced all 47 ABCA7 exons in these participants to screen for other coding variants.

Results

At least one of the

SUBMITTER: Allen M 

PROVIDER: S-EPMC5217615 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature