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.
Robinson, P. C., Lau, E., Keith, P., Lau, M. C., Thomas, G. P., Bradbury, L. A., Brown, M. A., & Kenna, T. J. (2015). ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers. Annals of the Rheumatic Diseases, 74(11), 2092-2095. https://doi.org/10.1136/annrheumdis-2015-207467