P2‐049: Functional characterization of a novel TREM2 coding variant linked to familial Alzheimer's disease

The triggering receptor expressed on myeloid cells-2 (TREM2) is an immune-modulatory receptor involved in the regulation of inflammatory processes. Recently, rare coding variants in TREM2, in particular p.R47H, were associated with increased risk of sporadic Alzheimer's disease (AD). However, contribution of rare TREM2 variants to the etiology of familial AD is less clear. In whole exome sequencing data (WES) from AD families without mutation in...