CD33 Alzheimer's disease locus: Altered monocyte function and amyloid biology

Abstract

In our functional dissection of the CD33 Alzheimer's disease susceptibility locus, we found that the rs3865444C risk allele was associated with greater cell surface expression of CD33 in the monocytes (t 50 = 10.06, P joint = 1.3 × 10 -13) of young and older individuals. It was also associated with diminished internalization of amyloid-β 42 peptide, accumulation of neuritic amyloid pathology and fibrillar amyloid on in vivo imaging, and increased numbers of activated human microglia. © 2013 Nature America, Inc. All rights reserved.