Principal Investigator: Professor Matthew Brown
Queensland University of Technology, Translational Research Institute, 37 Kent Street, Woolloongabba, Brisbane QLD 4102, AustraliaTags: 21024, Ankylosing Spondylitis, arthritis, Genetic risk prediction
1a: 1. To identify genes involved in ankylosing spondylitis
2. To test genetic risk prediction for ankylosing spondylitis
3. To test whether HLA-B27 influences the risk of ischaemic heart disease and mortality.
1b: The study aims to improve treatment and potentially prevention of AS both by identifying novel therapeutic targets, and developing methods to
improve early diagnosis of the disease, which currently has a mean 10 year diagnostic delay.
1c: Ankylosing spondylitis cases will be identified from the registry. The accuracy of the diagnosis will be tested by investigating the prevalence of
HLA-B27 in cases, which should be >80%. If that threshold is achieved then case genotypes will be compared with controls by standard GWAS
approaches. Genetic risk scores developed using a 25000 case GWAS we are currently completing will be tested for their positive and negative predictive
value in the UK Biobank cohort.
1d: Full cohort