Abstract
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 interaction exists between ERAP1 and the HLA Class I alleles HLA-B27 and –B40 (associated with AS), -Cw6 (in psoriasis), and -B*51 (in Behcet’s disease). In AS, two ERAP1 haplotypes are disease associated, tagged either by rs30187 (thought to be directly disease-associated) or rs10050860 (which lies on a disease-associated haplotype). Protective alleles of rs30187 are associated with reduced peptidase activity. We hypothesized that other AS-associated ERAP1 and ERAP2 genetic variants would also either lead to reduced function or expression of the respective gene.
Original language | English |
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Pages | 3385-3386 |
Number of pages | 2 |
Publication status | Published - 2015 |
Event | ACR/ARHP Annual Meeting - San Francisco, United States Duration: 05 Nov 2015 → 10 Nov 2015 https://web.archive.org/web/20160319093523/http://acrabstracts.org/meetings/2015-acrarhp-annual-meeting/?viewby=number |
Conference
Conference | ACR/ARHP Annual Meeting |
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Country/Territory | United States |
City | San Francisco |
Period | 05/11/15 → 10/11/15 |
Internet address |