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 › peer-review

15 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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@article{45903bb3181d4ccdbcf97d96e96de56a,

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

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",

author = "Robinson, {Philip C} and Eugene Lau and Patricia Keith and Lau, {Max C} and Thomas, {Gethin P} and Bradbury, {Linda A} and Brown, {Matthew A} and Kenna, {Tony J}",

note = "Includes bibliographical references.",

year = "2015",

doi = "10.1136/annrheumdis-2015-207467",

language = "English",

volume = "74",

pages = "2092--2095",

journal = "Annals of the Rheumatic Diseases",

issn = "0003-4967",

publisher = "BMJ Publishing Group Ltd",

number = "11",

}

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 › peer-review

TY - JOUR

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

N1 - Includes bibliographical references.

PY - 2015

Y1 - 2015

N2 - 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.

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

M3 - Article

C2 - 26088389

VL - 74

SP - 2092

EP - 2095

JO - Annals of the Rheumatic Diseases

JF - Annals of the Rheumatic Diseases

SN - 0003-4967

IS - 11

ER -