Genetics of axial spondyloarthritis

Ankylosing spondylitis (AS) is among the most heritable of common human diseases. While the major susceptibility gene for the disease, HLA-B27, has among the strongest genetic effects for any common genetic variant, it contributes only ∼20% of the genetic risk of the disease, and only a small minority (∼5%) of HLA-B27 carriers develop the disease. Much progress has been made identifying further genetic variants involved in the disease, which have highlighted novel pathways previously unreported to be involved in human disease as influencing risk of AS. This information presents valuable clues as to potential therapeutic targets for AS and related conditions.