Comprehensive epigenomic profiling reveals the extent of disease-specific chromatin states and informs target discovery in ankylosing spondylitis

• DOI: 10.1016/j.xgen.2023.100306
• Publication Date: 2023-04-24T14:40:12Z
• Authors: Andrew C. Brown; Carla J. Cohen; Olga Mielczarek; Gabriele Migliorini; Félicie Costantino; Alice Allcock; Connor Davidson; Katherine S. Elliott; Hai Fang; Alicia Lledó Lara; Alice C. Martin; Julie A. Osgood; Anna Sanniti; Giuseppe Scozzafava; Matteo Vecellio; Ping Zhang; Mary Helen Black; Shuwei Li; Dongnhu Truong; Julio Molineros; Trevor Howe; B. Paul Wordsworth; Paul Bowness; Julian C. Knight
• Keywords: Epigenomics; Genome-wide Association Study; Genetic Association; International HapMap Project

Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis characterized by enthesitis of the spine and sacroiliac joints. Genome-wide association studies (GWASs) have revealed more than 100 genetic associations whose functional effects remain largely unresolved. Here, we present comprehensive transcriptomic epigenomic map disease-relevant blood immune cell subsets from AS patients healthy controls. We find that, while CD14