ArticlePloS one2012
A functional variant in ERAP1 predisposes to multiple sclerosis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 47 citations in OpenAlex.
- Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines.Clinical and experimental immunology · 2015Trial
- The Role of Aminopeptidase ERAP1 in Human Pathology-A Review.Current issues in molecular biology · 2024Review
- The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.Postepy dermatologii i alergologii · 2021Article
- Genomic Risk Factors Driving Immune-Mediated Delayed Drug Hypersensitivity Reactions.Frontiers in genetics · 2021Review
- The role of polymorphic ERAP1 in autoinflammatory disease.Bioscience reports · 2018Review
- An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes.Scientific reports · 2018Article
- The partial dissociation of MHC class I-bound peptides exposes their N terminus to trimming by endoplasmic reticulum aminopeptidase 1.The Journal of biological chemistry · 2018Article
- Spondyloarthritis, Acute Anterior Uveitis, and Fungi: Updating the Catterall-King Hypothesis.Frontiers in medicine · 2018Article
- Mice expressing human ERAP1 variants associated with ankylosing spondylitis have altered T-cell repertoires and NK cell functions, as well as increased in utero and perinatal mortality.International immunology · 2017Article
- Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus.Genes and immunity · 2016Article
- ERAAP Shapes the Peptidome Associated with Classical and Nonclassical MHC Class I Molecules.Journal of immunology (Baltimore, Md. : 1950) · 2016Article
- ERAP1 functions override the intrinsic selection of specific antigens as immunodominant peptides, thereby altering the potency of antigen-specific cytolytic and effector memory T-cell responses.International immunology · 2014Article
- Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases.Genes and immunity · 2014Review
- A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer pre-disposition.Frontiers in oncology · 2014Review
- Article
- Naturally occurring ERAP1 haplotypes encode functionally distinct alleles with fine substrate specificity.Journal of immunology (Baltimore, Md. : 1950) · 2013Article
- Genetic association with ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06.The Journal of investigative dermatology · 2013Article
- Gene network analysis of small molecules with autoimmune disease associated genes predicts a novel strategy for drug efficacy.Autoimmunity reviews · 2013Article
- Endoplasmic reticulum aminopeptidase-1 functions regulate key aspects of the innate immune response.PloS one · 2013Article
- Recognition of self and altered self by T cells in autoimmunity and allergy.Protein & cell · 2013Review
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
The ERAP1 gene encodes an aminopeptidase involved in antigen processing. A functional polymorphism in the gene (rs30187, Arg528Lys) associates with susceptibility to ankylosying spondylitis (AS), whereas a SNP in the interacting ERAP2 gene increases susceptibility to another inflammatory autoimmune disorder, Crohn's disease (CD). We analysed rs30187 in 572 Italian patients with CD and in 517 subjects suffering from multiple sclerosis (MS); for each cohort, an independent sex- and age-matched control group was genotyped. The frequency of the 528Arg allele was significantly higher in both disease cohorts compared to the respective control population (for CD, OR = 1.20 95%CI: 1.01-1.43, p = 0.036; for RRMS, OR = 1.26; 95%CI: 1.04-1.51, p = 0.01). Meta-analysis with the Wellcome Trust Cases Control Consortium GWAS data confirmed the association with MS (p(meta) = 0.005), but not with CD. In AS, the rs30187 variant has a predisposing effect only in an HLA-B27 allelic background. It remains to be evaluated whether interaction between ERAP1 and distinct HLA class I alleles also affects the predisposition to MS, and explains the failure to provide definitive evidence for a role of rs30187 in CD. Results herein support the emerging concept that a subset of master-regulatory genes underlay the pathogenesis of autoimmunity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.