Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium.

ABSTRACT:

Background

Genetics play an important role in intracranial aneurysm (IA) pathophysiology. Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are linked to IA but how they affect disease pathobiology remains poorly understood. We used Encyclopedia of DNA Elements (ENCODE) data to investigate the epigenetic landscapes surrounding genetic risk loci to determine if IA-associated SNPs affect functional elements that regulate gene expression and if those SNPs are most likely to impact a specific type of cells.

Methods

We mapped 16 highly significant IA-associated SNPs to linkage disequilibrium (LD) blocks within the human genome. Within these regions, we examined the presence of H3K4me1 and H3K27ac histone marks and CCCTC-binding fa

SUBMITTER: Poppenberg KE 

PROVIDER: S-EPMC6821037 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature