Article
Coding variants in TREM2 increase risk for Alzheimer's disease.
Human molecular genetics - 1 Nov 2014
Jin Sheng Chih, Benitez Bruno A, Karch Celeste M, Cooper Breanna, Skorupa Tara, Carrell David, Norton Joanne B, Hsu Simon, Harari Oscar, Cai Yefei, Bertelsen Sarah, Goate Alison M, Cruchaga Carlos
Abstract excerpt
The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory response. Homozygous mutations in TREM2 cause Nasu-Hakola disease, a rare recessive form of dementia. A heterozygous TREM2 variant, p.R47H, was recently shown to increase Alzheimer''s disease (AD) risk. We hypothesized that if TREM2 is...
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