Last reviewed: June 1, 2026

2011Nature Genetics

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, et al.

Abstract summary

GWAS meta-analysis identifying MS4A6A/MS4A4E, CD33, EPHA1, and ABCA7 as new Alzheimer's disease susceptibility loci. Companion to Naj et al. 2011. MS4A6A and MS4A4A are expressed in microglia and regulate TREM2 surface expression. CD33 is an inhibitory receptor limiting microglial amyloid clearance.

Evidence labels

human genetics

Targets

Diseases

  • Alzheimer's disease

Species

human

Methods

genome-wide association study, meta-analysis

Therapeutic relevance

Identified MS4A and CD33 as microglial genetic risk factors; both are targets of therapeutic programs aimed at enhancing microglial function in AD.

Last reviewed: June 1, 2026