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Functionally distinct ERAP1 haplotype combinations define individuals with Ankylosing Spondylitis (P5047)

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Ankylosing Spondylitis (AS) is a chronic inflammatory disease which commonly affects the spine occurring in approximately 0.5% of adults of European descent. In addition to HLA-B27, recent genetic linkage studies have identified polymorphisms within the aminopeptidase, ERAP1, associated with the disease. ERAP1 lies on the antigen processing pathway, generating peptide antigens for immune presentation by HLA. Here we show that ERAP1 from individuals are polymorphic and comprise haplotypes that are predominantly made up of multiple SNPs. ERAP1 haplotype combinations found in AS cases are distinct from those in controls. AS case ERAP1 haplotype combinations are unable to trim peptide precursors to generate the final epitope for presentation to T cells and are also unable to reconstitute MHC class I to normal levels as observed with control haplotype combinations. We therefore provide strong evidence that ERAP1 variation predisposes to chronic inflammatory disease via its influence on the antigen processing pathway.

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James, E., Reeves, E., Colebatch, A.N., Elliott, T. and Edwards, C.J. (2013) Functionally distinct ERAP1 haplotype combinations define individuals with Ankylosing Spondylitis (P5047) Journal of Immunology, 190, (111.6)

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Published date: 2013
Organisations: Cancer Sciences


Local EPrints ID: 353742
ISSN: 0022-1767
PURE UUID: 732cd7f0-97c6-4fe7-a418-601610623d96
ORCID for T. Elliott: ORCID iD

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Date deposited: 17 Jun 2013 09:35
Last modified: 18 Jul 2017 04:01

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Author: E. James
Author: E. Reeves
Author: A.N. Colebatch
Author: T. Elliott ORCID iD
Author: C.J. Edwards

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