Last reviewed: June 1, 2026

2013New England Journal of Medicine

TREM2 variants in Alzheimer's disease

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, et al.

Abstract summary

Companion study to Jonsson et al. (2013) identifying the R47H variant in TREM2 as conferring a three-fold increased risk of late-onset Alzheimer's disease. Whole-exome sequencing across multiple AD cohorts confirmed TREM2 as a significant microglial genetic risk factor.

Evidence labels

human genetics

Targets

Diseases

  • Alzheimer's disease

Species

human

Methods

whole-exome sequencing, case-control study

Therapeutic relevance

Co-established TREM2 as a major Alzheimer's disease drug target, catalyzing multiple antibody and small-molecule programs.

Last reviewed: June 1, 2026