Post-genomic investigation of coeliac susceptibility genes

Abstract

Coeliac Disease (C) is a debilitating condition characterised by chronic inflammation of the small intestine. This autoimmune disorder is triggered in genetically predispsed individuals following ingestion of dietary gluten, which is recognised by cogate HLA molecules presented by CD4+ T cells. Genome-wide association studies (GWAS] and dense genotyping analyses have identified a large number of non-HL loci that contribute to the inheritance of CD. How these disease-associated variants impact gene expression and the effect altered target gene expression has on signalling pathways and cell biology will further our understanding of 0 pathogenesis. This thesis aimed to characterise the nature of a number of disease-associated SNPs and the gene they are thought to act upon, specifically in T cells.