TREM2R47HVARIANT

1. TREM2R47HVARIANT decreases Gpnmb and Pmel expression in App NL-F knock-in mice; trend in part of comparisons.

   “Pmel and Gpnmb were or tended to be downregulated in Trem2 R47H KI as well as in Trem2 KO mice”

   Animalsin App NL-F knock-in mice; trend in part of comparisons

   Trem2 R47H mutation shows mild, but functionally divergent alterations in microglial phenotypes compared to Trem2 deficiency in aged App NL-F knock-in mice

   bioRxiv (Cold Spring Harbor Laboratory)·May 21, 2026Preprint

More on Gpnmb and Pmel expression

1. TREM2R47HVARIANT showed no clear effect on microglial gene upregulation in App NL-F knock-in mice.

   “while Trem2 R47H KI mice showed a response similar to control mice”

   Animalsin App NL-F knock-in mice

   Trem2 R47H mutation shows mild, but functionally divergent alterations in microglial phenotypes compared to Trem2 deficiency in aged App NL-F knock-in mice

   bioRxiv (Cold Spring Harbor Laboratory)·May 21, 2026Preprint

1. TREM2R47HVARIANT is associated with amyloid-beta load in humans (R47H TREM2 carriers compared with non-carriers).

   “Plasma sTREM2 and brain Aβ load were higher in R47H TREM2 carriers compared to non-carriers.”

   HumansR47H TREM2 carriers compared with non-carriersbrain

   Plasma soluble TREM2 is associated with plasma pTau-181 and pTau-231 in cognitively normal older adults at risk of Alzheimer's disease

   Journal of Alzheimer's disease : JAD·Dec 9, 2025

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1. TREM2R47HVARIANT is associated with plasma soluble TREM2 in humans (R47H TREM2 carriers compared with non-carriers).

   “Plasma sTREM2 and brain Aβ load were higher in R47H TREM2 carriers compared to non-carriers.”

   HumansR47H TREM2 carriers compared with non-carriers

   Plasma soluble TREM2 is associated with plasma pTau-181 and pTau-231 in cognitively normal older adults at risk of Alzheimer's disease

   Journal of Alzheimer's disease : JAD·Dec 9, 2025

More on Plasma soluble TREM2