Ontology highlight
ABSTRACT:
SUBMITTER: Raj T
PROVIDER: S-EPMC3990171 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Raj Towfique T Ryan Katie J KJ Replogle Joseph M JM Chibnik Lori B LB Rosenkrantz Laura L Tang Anna A Rothamel Katie K Stranger Barbara E BE Bennett David A DA Evans Denis A DA De Jager Philip L PL Bradshaw Elizabeth M EM
Human molecular genetics 20131230 10
We previously demonstrated that the Alzheimer's disease (AD) associated risk allele, rs3865444(C), results in a higher surface density of CD33 on monocytes. Here, we find alternative splicing of exon 2 to be the primary mechanism of the genetically driven differential expression of CD33 protein. We report that the risk allele, rs3865444(C), is associated with greater cell surface expression of CD33 in both subjects of European and African-American ancestry and that there is a single haplotype in ...[more]