Skipping of FCER1G Exon 2 Is Common in Human Brain But Not Associated with the Alzheimer's Disease Genetic Risk Factor rs2070902

Alyssa C. Feldner, Andrew K. Turner, James F. Simpson, Steven Estus

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Understanding the mechanisms whereby genetic variants influence the risk of Alzheimer's disease (AD) may provide insights into treatments that could reduce AD risk. Objective: Here, we sought to test the hypothesis that a single nucleotide polymorphism (SNP) associated with AD risk, rs2070902, influences splicing of FCER1G exon 2. Methods: AD and non-AD brain samples were analyzed for FCER1G expression by genotyping, immunohistochemistry, immunofluorescence, and qPCR. Results: The protein encoded by FCER1G, FcRγ, is robustly expressed in microglia in both AD and non-AD brain. The FCER1G isoform lacking exon 2 (D2-FCER1G) was readily detectable. Moreover, the proportion of FCER1G expressed as this isoform was increased in brains with high AD neuropathology. However, the proportion of FCER1G expressed as the D2-FCER1G isoform was not associated with rs2070902 genotype. Conclusions: In summary, the proportion of FCER1G expressed as the D2-FCER1G isoform is increased with AD neuropathology but is not associated with rs2070902.

Original languageEnglish
Pages (from-to)1313-1322
Number of pages10
JournalJournal of Alzheimer's Disease Reports
Volume7
Issue number1
DOIs
StatePublished - Nov 30 2023

Bibliographical note

Publisher Copyright:
© 2023 - The authors. Published by IOS Press.

Keywords

  • Alzheimer's disease
  • genetics
  • microglia
  • polymorphism
  • RNA splicing

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health

Fingerprint

Dive into the research topics of 'Skipping of FCER1G Exon 2 Is Common in Human Brain But Not Associated with the Alzheimer's Disease Genetic Risk Factor rs2070902'. Together they form a unique fingerprint.

Cite this