TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease

J Alzheimers Dis. 2013;35(1):45-9. doi: 10.3233/JAD-122311.


The rs75932628-T variant of the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's disease (AD). In this study we examined the association between TREM2 exon 2 variants and early-onset AD in a sample of Caucasian subjects of French origin including 726 patients with age of onset ≤65 years and 783 controls. Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009). These results confirm the association between this variant and AD and underline its involvement in early-onset cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / diagnosis*
  • Alzheimer Disease / genetics*
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Receptors, Immunologic / genetics*
  • Risk Factors


  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM2 protein, human