Power in numbers: identifying new genes associated with ankylosing spondylitis

2013

Challenge

Ankylosing spondylitis is an incurable inflammatory arthritis of the spine that most often begins in young adulthood and can lead to life-long inflexibility, posture changes, and pain. Researchers have explored the disease’s genetic risk factors for decades, but further knowledge is necessary to understand what causes the inflammation and how to treat it.

Advance

IRP researchers led by Michael M. Ward, M.D., partnered with the International Genetics of Ankylosing Spondylitis Consortium to compare genes from thousands of people with ankylosing spondylitis to those from people without the disease. The team discovered 13 new genetic markers associated with ankylosing spondylitis and confirmed the importance of 12 previously identified biomarkers.

Impact

Results from this study help researchers pinpoint therapeutic targets—such as the interleukin-23 inflammation pathway and the immune system protein HLA-B27—that may lead to effective treatments for controlling ankylosing spondylitis.

Publications

International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre O, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2), Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. (2013). Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet. 45(7), 730-8.