Abstracts tagged "Ankylosing spondylitis (AS) and genetics"

Abstract Number: 2808 • 2015 ACR/ARHP Annual Meeting
Genetic Variants at Chromosome 5q15 Associated with Immune-Mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase
Aimee Hanson¹, Katelin Haynes², Gethin Thomas², Thomas Cuddihy², Paul Leo² and Matthew A. Brown¹, ¹The University of Queensland Diamantina Institute, Brisbane, Australia, ²University of Queensland Diamantina Institute, Brisbane, Australia
Background/Purpose: Polymorphisms in the endoplasmic reticulum aminopeptidase genes ERAP1 and/or ERAP2 are strongly associated with the diseases AS, psoriasis, IBD and Behcet’s disease. Robust genetic…
Abstract Number: 2498 • 2013 ACR/ARHP Annual Meeting
ERAP2 Functional Knockout In Humans Does Not Alter ER Stress Or Evidence Of HLA-B27 Misfolding In Ankylosing Spondylitis
Philip Robinson¹, Yang Wang², Eugene Lau², Patricia Keith², Tony Kenna³ and Matthew A. Brown³, ¹Human Genetics Group, University of Queensland Diamantina Insititute, Brisbane, Australia, ²Human Genetics Group, University of Queensland Diamantina Institute, Brisbane, Australia, ³University of Queensland Diamantina Institute, Brisbane, Australia
Background/Purpose: SNPs in ERAP2 are strongly associated with ankylosing spondylitis (AS). One associated SNP is rs2248374 which changes the strength of the exon 10 donor…

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