Progress in the genetics of ankylosing spondylitis

Brown, Matthew A. (2011) Progress in the genetics of ankylosing spondylitis. Briefings in Functional Genomics, 10 5: 249-257. doi:10.1093/bfgp/elr023

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Author Brown, Matthew A.
Title Progress in the genetics of ankylosing spondylitis
Journal name Briefings in Functional Genomics   Check publisher's open access policy
ISSN 2041-2649
Publication date 2011-09-30
Sub-type Article (original research)
DOI 10.1093/bfgp/elr023
Volume 10
Issue 5
Start page 249
End page 257
Total pages 9
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Formatted abstract
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthropathy. In addition to being strongly associated with HLA-B27, a further 13 genes have been robustly associated with the disease. These genes highlight the involvement of the IL-23 pathway in disease pathogenesis, and indicate overlaps between the pathogenesis of AS, and of inflammatory bowel disease. Genetic associations in B27-positive and -negative disease are similar, with the main exception of association with ERAP1, which is restricted in association to B27-positive cases. This restriction, and the known function of ERAP1 in peptide trimming prior to HLA Class I presentation, indicates that HLA-B27 is likely to operate in AS by a mechanism involving aberrant peptide handling. These advances point to several potential novel therapeutic approaches in AS.
Keyword Ankylosing spondylitis
Genome-wide association study
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 18 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 22 times in Scopus Article | Citations
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