Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease.

ABSTRACT: Rare variation in the TREM2 gene is associated with a broad spectrum of neurodegenerative disorders including Alzheimer's disease (AD). TREM2 encodes a receptor expressed in microglia which is thought to influence neurodegeneration by sensing damage signals and regulating neuroinflammation. Many of the variants reported to be associated with AD, including the rare R47H variant, were discovered in populations of European ancestry and have not replicated in diverse populations from other genetic backgrounds. We utilized a cohort of elderly Chinese individuals diagnosed as cognitively normal, or with mild cognitive impairment or AD to identify a rare variant, A192T, present in a single patient diagnosed with AD. We characterized this variant using biochemical cell surface expression assays an

SUBMITTER: Bonham LW 

PROVIDER: S-EPMC5639900 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature