Sheng Chih Jin, Bruno A Benitez, Celeste M Karch, Breanna Cooper, Tara Skorupa, David Carrell, Joanne B Norton, Simon Hsu, Oscar Harari, Yefei Cai, Sarah Bertelsen, Alison M Goate, Carlos Cruchaga
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 truly an AD risk gene, there would be additional rare variants in TREM2 that substantially affect AD risk...
November 1, 2014: Human Molecular Genetics