Identification of a specific APOE transcript and functional elements associated with Alzheimer's disease.

ABSTRACT:

Background

The APOE gene is the strongest genetic risk factor for late-onset Alzheimer's Disease (LOAD). However, the gene regulatory mechanisms at this locus remain incompletely characterized.

Methods

To identify novel AD-linked functional elements within the APOE locus, we integrated SNP variants with multi-omics data from human postmortem brains including 2,179 RNA-seq samples from 3 brain regions and two ancestries (European and African), 667 DNA methylation samples, and ChIP-seq samples. Additionally, we plotted the expression trajectory of APOE transcripts in human brains during development.

Results

We identified an AD-linked APOE transcript (jxn1.2.2) particularly observed in the dorsolateral prefrontal cortex (DLPFC). The APOE jxn1.2.2 transcript is associated

SUBMITTER: Chen Q 

PROVIDER: S-EPMC11361112 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature