“Rare and Common variation implicate microglial function in Alzheimer’s disease risk”

Alison Goate, D.Phil., Willard T.C. Johnson Research Professor of Neurogenetics, Director, Ronald M. Loeb Center for Alzheimer’s Disease, Icahn School of Medicine at Mount Sinai

Alzheimer’s disease is a common neurodegenerative disease that has no effective treatment. We are using genetic approaches to determine the underlying mechanisms of disease with the goal of identifying novel therapeutic targets for treatment. Informatic analyses indicate that AD heritability is enriched within epigenetic annotations for active enhancers in myeloid cells. Specifically, the cistrome for the myeloid transcription factor PU.1 is highly enriched for AD risk loci, including APOE and MS4A4A, implicating a specific functional network in AD risk.