Enhancer variants associated with Alzheimer's disease affect gene expression via chromatin looping.

ABSTRACT:

Background

Genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) that may be genetic factors underlying Alzheimer's disease (AD). However, how these AD-associated SNPs (AD SNPs) contribute to the pathogenesis of this disease is poorly understood because most of them are located in non-coding regions, such as introns and intergenic regions. Previous studies reported that some disease-associated SNPs affect regulatory elements including enhancers. We hypothesized that non-coding AD SNPs are located in enhancers and affect gene expression levels via chromatin loops.

Methods

To characterize AD SNPs within non-coding regions, we extracted 406 AD SNPs with GWAS p-values of less than 1.00 × 10^- 6 from the GWAS catalog database. Of

SUBMITTER: Kikuchi M 

PROVIDER: S-EPMC6734281 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature