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Abstract
BACKGROUND: Alleles of apolipoprotein E (APOE) are the major genetic risk factor for late onset Alzheimer's Disease (LOAD). Recently, an APOE splice variant that retains intron 3 (APOE-I3) was identified. To gain insight into the possible role of this isoform in LOAD, we quantified its expression in a cohort of 56 human brain specimens by using quantitative RT-PCR.
RESULTS: We found that APOE-I3 generally represents a low percentage (< 0.5%) of overall APOE expression. However, in one specimen, the proportion of APOE-I3 was increased about ~13 fold. This specimen was unique in the cohort for possessing the minor allele of an intron 3 single nucleotide polymorphism (SNP), rs12982192. Additionally, an allelic expression imbalance study indicated that the rs12982192 minor allele was associated with increased APOE-I3 expression.
CONCLUSIONS: Overall, we interpret our results as suggesting that APOE-I3 represents a minor portion of APOE expression and that rs12982192 is associated with APOE intron 3 retention. Since the minor allele of this SNP is on the same haplotype as the minor allele of rs429358, which defines the APOE4 allele, we speculate that rs12982192 may reflect a modest loss of mRNA encoding functional APOE4.
Document Type
Article
Publication Date
9-7-2010
Digital Object Identifier (DOI)
http://dx.doi.org/10.1186/1750-1326-5-34
Repository Citation
Dieter, Laura S. and Estus, Steven, "Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism" (2010). Physiology Faculty Publications. 19.
https://uknowledge.uky.edu/physiology_facpub/19
Notes/Citation Information
Published in Molecular Neurodegeneration, v. 5, 34.
© 2010 Dieter and Estus; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.