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 language | English |
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Pages (from-to) | 2092-2095 |
Number of pages | 4 |
Journal | Annals of the Rheumatic Diseases |
Volume | 74 |
Issue number | 11 |
DOIs | |
Publication status | Published - 2015 |