Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis.

ABSTRACT:

Objective

Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not known. In this study, we aimed to identify the key cell types mediating the genetic risk in AS using an unbiased functional genomics approach.

Methods

We integrated genome-wide association study (GWAS) data with epigenomic and transcriptomic datasets of human immune cells. To quantify enrichment of cell type-specific open chromatin or gene expression in AS risk loci, we used three published methods that have successfully identified relevant cell types in other diseases. We performed co-localization analyses between GWAS risk loci and genetic variants associated with gene expression (eQTL) t

SUBMITTER: Chinas M 

PROVIDER: S-EPMC10557806 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature