Journal
BRIEFINGS IN FUNCTIONAL GENOMICS
Volume 10, Issue 5, Pages 249-257Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bfgp/elr023
Keywords
ankylosing spondylitis; spondyloarthritis; genome-wide association study; SNP; heritable
Funding
- NHMRC
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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.
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