Investigating the mechanisms of ankylosing spondylitis-associated genetic variants

Ankylosing spondylitis (AS) is an inherited chronic immune-mediated disease, with a complex genetic and immunological basis. This thesis examined the effect of ankylosing spondylitis-associated genetic changes on DNA methylation and gene expression in isolated immune cell subsets. This study confirmed several pathways associated with disease, such as CD8+T-cell activation, and posed new evidence for the mechanisms of disease. The final chapter developed a signature for distinguishing individuals who have AS from healthy individuals by leveraging genetic profiling, gene expression and DNA methylation. This is the largest study of gene expression or DNA methylation in ankylosing spondylitis to date