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

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
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
Country	United States
City	San Francisco
Period	05/11/15 → 10/11/15
Internet address	https://web.archive.org/web/20160319093523/http://acrabstracts.org/meetings/2015-acrarhp-annual-meeting/?viewby=number

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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/

@conference{4d050bbae32f427d9d3b8f898991ac1e,

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

abstract = "Polymorphisms in the endoplasmic reticulum aminopeptidase genes ERAP1 and/or ERAP2 are strongly associated with the diseases AS, psoriasis, IBD and Behcet{\textquoteright}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{\textquoteright}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.",

author = "Aimee Hanson and Katelin Haynes and Gethin Thomas and Thomas Cuddihy and Paul Leo and Brown, {Matthew A}",

year = "2015",

language = "English",

pages = "3385--3386",

note = "ACR/ARHP Annual Meeting ; Conference date: 05-11-2015 Through 10-11-2015",

url = "https://web.archive.org/web/20160319093523/http://acrabstracts.org/meetings/2015-acrarhp-annual-meeting/?viewby=number",

}

Hanson, A, Haynes, K, Thomas, G, Cuddihy, T, Leo, P & Brown, MA 2015, 'Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase', ACR/ARHP Annual Meeting, San Francisco, United States, 05/11/15 - 10/11/15 pp. 3385-3386. <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/>

Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase. / Hanson, Aimee; Haynes, Katelin; Thomas, Gethin; Cuddihy, Thomas; Leo, Paul; Brown, Matthew A.

2015. 3385-3386 Abstract from ACR/ARHP Annual Meeting, San Francisco, United States.

Research output: Other contribution to conference › Abstract › peer-review

TY - CONF

T1 - Genetic Variants at Chromosome 5q15 Associated with Immune-mediated Diseases Influence Gene Expression and Isoform Profile of the Endoplasmic Reticulum Aminopeptidase

AU - Hanson, Aimee

AU - Haynes, Katelin

AU - Thomas, Gethin

AU - Cuddihy, Thomas

AU - Leo, Paul

AU - Brown, Matthew A

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

M3 - Abstract

SP - 3385

EP - 3386

T2 - ACR/ARHP Annual Meeting

Y2 - 5 November 2015 through 10 November 2015

ER -