Last reviewed: June 1, 2026
2013New England Journal of Medicine
TREM2 variants associated with Alzheimer's disease
Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Gudjonsson SA, et al.
Abstract summary
Identified the R47H variant in TREM2 as conferring approximately 3-fold increased risk for Alzheimer's disease, similar in magnitude to the APOE ε4 effect in some populations. This seminal paper established microglial TREM2 as a major AD risk gene.
Evidence labels
human genetics
Targets
Diseases
- Alzheimer's disease
Species
human
Methods
genome sequencing, case-control study, GWAS follow-up
Therapeutic relevance
Established TREM2 as a major AD drug target, prompting multiple clinical programs.
Last reviewed: June 1, 2026