Progress in the genetics of ankylosing spondylitis

Brown, Matthew A. (2011) Progress in the genetics of ankylosing spondylitis. Briefings in Functional Genomics, 10(5), pp. 249-257.

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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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20 citations in Scopus
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16 citations in Web of Science®

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ID Code: 87879
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: Ankylosing spondylitis, Genome-wide association study, Heritable, SNP, Spondyloarthritis, HLA antigen class 1, HLA B27 antigen, interleukin 23 receptor, transcription factor RUNX3, tumor necrosis factor, article, DNA microarray, gene, genetic association, genetic linkage, genetic variability, genotype, human, pathogenesis, single nucleotide polymorphism, Humans, Major Histocompatibility Complex, Oligonucleotide Array Sequence Analysis, Spondylitis, Ankylosing
DOI: 10.1093/bfgp/elr023
ISSN: 2041-2649
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 01 Oct 2015 02:33
Last Modified: 19 Aug 2016 03:25

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