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

Show simple item record Robinson, PC Leo, PJ Pointon, JJ Harris, J Cremin, K Bradbury, LA Wellcome Trust Case Control Consortium Australasian Osteoporosis Genetics Consortium (AOGC) Stebbings, S Harrison, AA Evans, DM Duncan, EL Wordsworth, BP Brown, MA Australasian Osteoporosis Genetics Consortium AOGC 2020-12-08T02:11:26Z 2020-12-08T02:11:26Z 2016-1
dc.identifier.issn 1466-4879
dc.description.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.
dc.format.medium Print-Electronic
dc.language eng
dc.publisher Springer Science and Business Media LLC
dc.relation.ispartofseries Genes and immunity
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher.
dc.subject Wellcome Trust Case Control Consortium
dc.subject Australasian Osteoporosis Genetics Consortium (AOGC)
dc.subject Australasian Osteoporosis Genetics Consortium AOGC
dc.subject Humans
dc.subject Spondylitis, Ankylosing
dc.subject Uveitis, Anterior
dc.subject HLA-B27 Antigen
dc.subject Case-Control Studies
dc.subject Genetic Heterogeneity
dc.subject Polymorphism, Single Nucleotide
dc.subject 0604 Genetics
dc.subject Clinical Medicine and Science
dc.subject Genetics
dc.subject 2.1 Biological and endogenous factors
dc.subject 1107 Immunology
dc.title The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.
dc.type Journal Article
dc.identifier.doi 10.1038/gene.2015.49
pubs.issue 1
pubs.begin-page 46
pubs.volume 17 2020-11-19T02:57:55Z
dc.rights.holder Copyright: The author en
pubs.end-page 51
pubs.publication-status Published
dc.rights.accessrights en
pubs.subtype Research Support, Non-U.S. Gov't
pubs.subtype Journal Article
pubs.elements-id 783811
dc.identifier.eissn 1476-5470 2015-11-26

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