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

Robinson, P. C., Leo, P. J., Pointon, J. J., Harris, J., Cremin, K., Bradbury, L. A., Wellcome Trust Case Control Consortium, Australasian Osteoporosis Genetics Consortium (AOGC), Stebbings, S., Harrison, A. A., Evans, D. M., Duncan, E. L., Wordsworth, B. P. and Brown, M. A. (2016) The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes and Immunity, 17 1: 46-51. doi:10.1038/gene.2015.49

Author Robinson, P. C.
Leo, P. J.
Pointon, J. J.
Harris, J.
Cremin, K.
Bradbury, L. A.
Wellcome Trust Case Control Consortium
Australasian Osteoporosis Genetics Consortium (AOGC)
Stebbings, S.
Harrison, A. A.
Evans, D. M.
Duncan, E. L.
Wordsworth, B. P.
Brown, M. A.
Title The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis
Journal name Genes and Immunity   Check publisher's open access policy
ISSN 1476-5470
Publication date 2016-01
Year available 2015
Sub-type Article (original research)
DOI 10.1038/gene.2015.49
Open Access Status Not Open Access
Volume 17
Issue 1
Start page 46
End page 51
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
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<10−300 and P=6 × 10−8, respectively). Secondary independent association with PSORS1C3 (P=4.7 × 10−5) and TAP2 (P=1.1 × 10−5) were observed in the major histocompatibility complex. There was a new suggestive association with a low-frequency variant at zinc-finger protein 154 in the AS without AAU versus control analysis (zinc-finger protein 154 (ZNF154), P=2.2 × 10−6). Heterogeneity testing showed that rs30187 in ERAP1 has a larger effect on AAU compared with that in AS alone. These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU differs from AS.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ
Additional Notes Published Jan - Feb 2016. Published online 26 November 2015

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2016 Collection
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UQ Diamantina Institute Publications
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