Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase

Aimee Hanson, Katelin Haynes, Gethin Thomas, Thomas Cuddihy, Paul Leo, Matthew A Brown

    Research output: Other contribution to conferenceAbstract

    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 languageEnglish
    Pages3385-3386
    Number of pages2
    Publication statusPublished - 2015
    EventACR/ARHP Annual Meeting - San Francisco, United States
    Duration: 05 Nov 201510 Nov 2015
    https://web.archive.org/web/20160319093523/http://acrabstracts.org/meetings/2015-acrarhp-annual-meeting/?viewby=number

    Conference

    ConferenceACR/ARHP Annual Meeting
    CountryUnited States
    CitySan Francisco
    Period05/11/1510/11/15
    Internet address

    Fingerprint Dive into the research topics of 'Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase'. Together they form a unique fingerprint.

  • Cite this