Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk.

ABSTRACT:

Purpose

Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes. In this study, we aimed to functionally characterize the 3q28 bladder cancer risk locus.

Methods

Fine-mapping was performed by focusing on the region surrounding rs710521, and variants were prioritized for further experiments using ENCODE regulatory data. The enhancer activity of the identified region was evaluated using dual-luciferase assays. CRISPR/Cas9-mediated deletion of the enhancer region was performed and the effect of this deletion on cell proliferation and gene expression levels w

SUBMITTER: Dudek AM 

PROVIDER: S-EPMC6153957 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature