Scientists studying Alzheimer's disease (AD) have identified thousands of genetic variants in the genome in the development of this progressive neurodegenerative disease.
Now, researchers at the University of North Carolina at Chapel Hill and The University of California, San Francisco, have identified the connections of risk variants with functions in microglia and then how they may contribute to AD.
Li and Yin Shen, Ph.D., associate professor at the Institute of Human Genetics and the Department of Neurology at UC-San Francisco, and their teams performed a detailed analysis in microglia of potential functional regions harboring genetic variants associated with AD. They discovered 181 new regions of interest containing 308 prioritized variants, which were previously not considered to play a role in Alzheimer's disease.
Using this epigenomic editing technology, the researchers can"perturb" candidate regions to see whether any tested genomic regions can impact downstream gene expression. They found that turning off one region can often impact a"whole neighborhood" of genes, much like a blackout on a power grid.
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