English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

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  APOE 4 allele, we speculate that rs12982192 may reflect a modest loss of mRNA encoding functional  APOE 4.

Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism