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Genetic variants of phospholipase C-γ2 alter the phenotype and function of microglia and confer differential risk for Alzheimer’s disease
Genetic differences in a key enzyme change brain immune cells and may affect Alzheimer's disease risk
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Abstract
A loss-of-function variant of PLCG2 is associated with increased Alzheimer's disease risk.
- PLCG2 is selectively expressed by microglia and plays a role in immune receptor signaling.
- In Alzheimer's disease, PLCG2 is uniquely induced in microglia associated with plaques.
- A genetic variant of PLCG2 that enhances function may reduce the risk of Alzheimer's disease.
- In a mouse model of Alzheimer's, the loss-of-function PLCG2 variant increased plaque burden and affected the clearance of amyloid-beta.
- Distinct transcriptional programs were identified in microglial subpopulations linked to protective or harmful responses in Alzheimer's disease.
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