Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis.

ABSTRACT: Eosinophilic esophagitis (EoE) is a rare atopic disorder associated with esophageal dysfunction, including difficulty swallowing, food impaction, and inflammation, that develops in a small subset of people with food allergies. Genome-wide association studies (GWASs) have identified 9 independent EoE risk loci reaching genome-wide significance (p < 5 × 10^-8) and 27 additional loci of suggestive significance (5 × 10^-8 < p < 1 × 10^-5). In the current study, we perform linkage disequilibrium (LD) expansion of these loci to nominate a set of 531 variants that are potentially causal. To systematically interrogate the gene regulatory activity of these variants, we designed a massively parallel reporter assay (MPRA) containing the alleles of each variant within the

SUBMITTER: Shook MS 

PROVIDER: S-EPMC10870143 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature