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.
|Number of pages||2|
|Publication status||Published - 2015|
|Event||ACR/ARHP Annual Meeting - San Francisco, United States|
Duration: 05 Nov 2015 → 10 Nov 2015
|Conference||ACR/ARHP Annual Meeting|
|Period||05/11/15 → 10/11/15|
Hanson, A., Haynes, K., Thomas, G., Cuddihy, T., Leo, P., & Brown, M. A. (2015). Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase. 3385-3386. Abstract from ACR/ARHP Annual Meeting, San Francisco, United States. http://acrabstracts.org/abstract/genetic-variants-at-chromosome-5q15-associated-with-immune-mediated-diseases-influence-gene-expression-and-isoform-profile-of-the-endoplasmic-reticulum-aminopeptidase/