ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers

Philip C Robinson, Eugene Lau, Patricia Keith, Max C Lau, Gethin P Thomas, Linda A Bradbury, Matthew A Brown, Tony J Kenna

    Research output: Contribution to journalArticle

    12 Citations (Scopus)

    Abstract

    Single nucleotide polymorphisms in ERAP2 are strongly associated with ankylosing spondylitis (AS). One AS-associated single nucleotide polymorphism, rs2248374, causes a truncated ERAP2 protein that is degraded by nonsense-mediated decay. Approximately 25% of the populations of European ancestry are therefore natural ERAP2 knockouts. We investigated the effect of this associated variant on HLA class I allele presentation, surface heavy chains, endoplasmic reticulum (ER) stress markers and cytokine gene transcription in AS.
    Original languageEnglish
    Pages (from-to)2092-2095
    Number of pages4
    JournalAnnals of the Rheumatic Diseases
    Volume74
    Issue number11
    DOIs
    Publication statusPublished - 2015

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