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

Autor: Feldner AC; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA., Turner AK; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA., Simpson JF; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA., Estus S; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
Jazyk: angličtina
Zdroj: Journal of Alzheimer's disease reports [J Alzheimers Dis Rep] 2023 Nov 30; Vol. 7 (1), pp. 1313-1322. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).
DOI: 10.3233/ADR-230076
Abstrakt: 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, FcR γ , 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.
Competing Interests: The authors declare no conflict of interest.
(© 2023 – The authors. Published by IOS Press.)
Databáze: MEDLINE
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