Functional Genomics and Its Bench-to-Bedside Translation Pertaining to the Identified Susceptibility Alleles and Loci in Ankylosing Spondylitis

Author:

Kenna Tony J.,Hanson Aimee,Costello Mary-Ellen,Brown Matthew A.

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Arthritis Research UK

Arthritis Australia

National Health and Medical Research Council

Publisher

Springer Science and Business Media LLC

Subject

Rheumatology

Reference73 articles.

1. Brown MA, Kenna T, Wordsworth BP. Genetics of ankylosing spondylitis—insights into pathogenesis. Nat Rev Rheumatol. 2016;12(2):81–91. doi: 10.1038/nrrheum.2015.133 .

2. Ellinghaus D, Jostins L, Spain SL, Cortes A, Bethune J, Han B, et al. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nat Genet. 2016;48(5):510–8. doi: 10.1038/ng.3528 . Identifies over 50 new loci associated with AS and documents the sharing of genetic architecture between AS and IBD and psoriasis in particular.

3. Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011;43(8):761–7. doi: 10.1038/ng.873 .

4. International Genetics of Ankylosing Spondylitis C, Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet. 2013;45(7):730–8. doi: 10.1038/ng.2667 . More than doubled the total number of known AS loci and, amongst other things, confirmed associations of both ERAP2 and NPEPPS with AS, further strengthening evidence of the involvement of aminopeptidases and the disease.

5. Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. 2010;42(2):123–7. doi: 10.1038/ng.513 .

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