A genetic study of over 173,000 individuals has confirmed that the TREM2 amino-acid-substitution mutation R47H increases the risk of Alzheimer disease in people of European descent.
Several studies have reported the TREM2 R47H mutation to be a risk factor for Alzheimer’s disease (AD), but the magnitude of this mutation’s role in AD and other neurodegenerative diseases has been far from clear.
“The effect size estimates varied widely across datasets,” says lead author of this study, Christina Lill University of Lübeck, Germany.
The results, published in the journal Alzheimer’s & Dementia, suggest the mutation contributes through tau dysfunction.