The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

P.C. Robinson, P.J. Leo, J.J. Pointon, J. Harris, K. Cremin, L.A. Bradbury, P. Donnelly, I. Barroso, J.M. Blackwell, E. Bramon, M.A. Brown, J.P. Casas, A. Corvin, P. Deloukas, A. Duncanson, J. Jankowski, H.S. Markus, C.G. Mathew, C.N.A. Palmer, R. PlominA. Rautanen, S.J. Sawcer, R.C. Trembath, A.C. Viswanathan, N.W. Wood, C.C.A. Spencer, G. Band, C. Bellenguez, C. Freeman, G. Hellenthal, E. Giannoulatou, M. Pirinen, R. Pearson, A. Strange, Z. Su, D. Vukcevic, C. Langford, S.E. Hunt, S. Edkins, R. Gwilliam, H. Blackburn, S.J. Bumpstead, S. Dronov, M. Gillman, E. Gray, N. Hammond, A. Jayakumar, O.T. Mccann, J. Liddle, S.C. Potter, R. Ravindrarajah, M. Ricketts, M. Waller, P. Weston, S. Widaa, P. Whittaker, E. Mccloskey, J. Eisman, G. Jones, G. Nicholson, R. Eastell, P. Sambrook, Richard Prince, E. Dennison, I. Reid, J. Wark, S. Stebbings, A.A. Harrison, D.M. Evans, E.L. Duncan, B.P. Wordsworth

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    Abstract

    © 2016 Macmillan Publishers Limited All rights reserved. Acute anterior uveitis (AAU) involves inflammation of the iris and ciliary body of the eye. It occurs both in isolation and as a complication of ankylosing spondylitis (AS). It is strongly associated with HLA-B∗27, but previous studies have suggested that further genetic factors may confer additional risk. We sought to investigate this using the Illumina Exomechip microarray, to compare 1504 cases with AS and AAU, 1805 with AS but no AAU and 21 133 healthy controls. We also used a heterogeneity test to test the differences in effect size between AS with AAU and AS without AAU. In the analysis comparing AS+AAU+ cases versus controls, HLA-B∗27 and HLA-A∗02:01 were significantly associated with the presence of AAU (P
    Original languageEnglish
    Pages (from-to)46-51
    JournalGenes and Immunity
    Volume17
    Issue number1
    DOIs
    Publication statusPublished - 2016

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    Robinson, P. C., Leo, P. J., Pointon, J. J., Harris, J., Cremin, K., Bradbury, L. A., Donnelly, P., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., ... Wordsworth, B. P. (2016). The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes and Immunity, 17(1), 46-51. https://doi.org/10.1038/gene.2015.49