Article
Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease.
Neurocase - 1 Feb 2017
Bonham Luke W, Sirkis Daniel W, Fan Jia, Aparicio Renan E, Tse Marian, Ramos Eliana Marisa, Wang Qing, Coppola Giovanni, Rosen Howard J, Miller Bruce L, Yokoyama Jennifer S
Abstract excerpt
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...
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