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Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4

Milica A Margeta1, Sophia M Letcher1, Robert P Igo1

  • 1,.

Investigative Ophthalmology & Visual Science
|July 3, 2020
PubMed
Abstract

Insights

The APOE ε4 allele may reduce the risk of primary open-angle glaucoma (POAG), contrasting its adverse association with Alzheimer's disease (AD). TREM2 variants linked to AD do not appear to impact POAG risk.

Area of Science:

  • Genetics
  • Neuroscience
  • Ophthalmology

Background:

  • Microglial activation is implicated in the pathogenesis of primary open-angle glaucoma (POAG).
  • APOE and TREM2 are genes critical to microglial function and implicated in Alzheimer's disease (AD).

Purpose of the Study:

  • To investigate the genetic association between POAG and variants in the APOE and TREM2 genes.
  • To determine if APOE and TREM2 variants, known to influence Alzheimer's disease risk, also play a role in POAG development.

Main Methods:

  • Genotyping of APOE and TREM2 variants was performed in two cohorts: the NEIGHBOR consortium and the Massachusetts Eye and Ear Infirmary (MEEI).
  • Association analyses were conducted for POAG overall and for high-tension glaucoma (HTG) and normal-tension glaucoma (NTG) subgroups using logistic regression, adjusting for age and sex.

Main Results:

  • The APOE ε4 allele was significantly associated with a reduced risk of POAG in the combined dataset (OR, 0.83; P = 0.0022), including HTG (OR, 0.81; P = 0.0052) and NTG (OR, 0.71; P = 0.0014) subgroups.
  • A rare TREM2 variant (A105V) was identified in HTG cases but not in controls (P = 0.03).
  • Three other TREM2 variants previously associated with AD showed no significant association with POAG risk (P > 0.05).

Conclusions:

  • The APOE ε4 allele is associated with a decreased risk of POAG, suggesting a different role in ocular versus cerebral neurodegeneration.
  • Genetic variants in TREM2, while associated with AD, do not appear to be significant risk factors for POAG.

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