Massively parallel analysis of genotype-dependent enhancer activity among atopic dermatitis genetic risk variants.

ABSTRACT:

Background

Atopic dermatitis (AD) is an inflammatory, pruritic disease of the skin with a complex etiology involving environmental and genetic factors. Numerous genetic risk loci for AD have been nominated through genome-wide association studies, with most associated variants residing in noncoding regions. Further work is needed to understand how genetic variation contributes to disease-related alterations to gene expression.

Objective

We sought to use massively parallel reporter assays to identify genetic risk variants with genotype-dependent regulatory activity within a set of 2,381 variants distributed among 49 independent AD risk loci.

Methods

We used our massively parallel reporter assay library in HaCaT skin keratinocytes, TE-7 esophageal epithelial cells, and J

SUBMITTER: Shook MS 

PROVIDER: S-EPMC12863760 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature