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

doi:10.1136/annrheumdis-2015-207467

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 journal › Article

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 language	English
Pages (from-to)	2092-2095
Number of pages	4
Journal	Annals of the Rheumatic Diseases
Volume	74
Issue number	11
DOIs	https://doi.org/10.1136/annrheumdis-2015-207467
Publication status	Published - 2015

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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

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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.",

keywords = "Ankylosing Spondylitis, Cytokines, Gene Polymorphism",

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ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers. / Robinson, Philip C; Lau, Eugene; Keith, Patricia; Lau, Max C; Thomas, Gethin P; Bradbury, Linda A; Brown, Matthew A; Kenna, Tony J.

In: Annals of the Rheumatic Diseases, Vol. 74, No. 11, 2015, p. 2092-2095.

Research output: Contribution to journal › Article

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T1 - ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers

AU - Robinson, Philip C

AU - Lau, Eugene

AU - Keith, Patricia

AU - Lau, Max C

AU - Thomas, Gethin P

AU - Bradbury, Linda A

AU - Brown, Matthew A

AU - Kenna, Tony J

PY - 2015

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AB - 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.

KW - Ankylosing Spondylitis

KW - Cytokines

KW - Gene Polymorphism

U2 - 10.1136/annrheumdis-2015-207467

DO - 10.1136/annrheumdis-2015-207467

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