|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study strengthens the association between ERAP1 and BS.
|
31790864 |
2020 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Redundancy and Complementarity between ERAP1 and ERAP2 Revealed by their Effects on the Behcet's Disease-associated HLA-B*51 Peptidome.
|
31092671 |
2019 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach.
|
30742879 |
2019 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of ERAP1 (leading to distinct allotypes) are linked with specific autoinflammatory disorders, such as ankylosing spondylitis and Behçet's disease.
|
30769005 |
2019 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Along with human leukocyte antigen gene encoding B*51 (HLA-B*51) and areas including the major histocompatibility complex class I, genome-wide association studies have recognized numerous other BD susceptibility genes including those encoding interleukin (IL)-10, IL-12 receptor β 2 (IL-12RB2), IL-23 receptor (IL-23R), C-C chemokine receptor 1 gene, signal transducer and activator of transcription 4 (STAT4), endoplasmic reticulum aminopeptidase (ERAP1), and genes encoding killer cell lectin-like receptor family members (KLRC4-KLRK1).
|
30341905 |
2019 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Altered trimming of microbial and/or endogenous peptides by endoplasmic reticulum aminopeptidase 1 (ERAP1), presented by <i>HLA-B</i><sup>*</sup><i>51</i>, may play a key role in BD pathogenesis causing an alteration in T cell balance with downregulation of Tregs and expansion of Th1 and Th17.
|
31134098 |
2019 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted on the two most consistently BS-associated ERAP1 polymorphisms, rs17482078 (NG_027839.1:g.35983G>A) and rs27044 (NG_027839.1:g.35997C>G) to analyse their distribution in 55 Italian BS patients and 65 ethnically matched controls (healthy controls, HC) and to test their association with BS risk.
|
30820838 |
2019 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that gene-gene interactions between HLA-B*51 and ERAP1 variants is important for BD development, however, ERAP1 variants which interact with HLA-B*51 may differ among disease phenotypes or populations.
|
30514861 |
2018 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The alterations in the nature and affinity of HLA-B*51·peptide complexes probably affect T-cell and natural killer cell recognition, providing a sound basis for the joint association of ERAP1 and HLA-B*51 with BD.
|
28446606 |
2017 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease.
|
28651467 |
2017 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Behçet's disease (BD) susceptibility had been associated with single-nucleotide polymorphisms (SNPs) in IL23R-IL12RB2, IL10, STAT4, or ERAP1 locus in Japanese, Turkish, Chinese, and other populations, but not in a Korean genome-wide association study (GWAS).
|
29017598 |
2017 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Combined with its requirement for HLA-B*51, these data suggest that a hypoactive ERAP1 allotype contributes to Behçet's disease risk by altering the peptides available for binding to HLA-B*51.
|
27217550 |
2016 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
This pattern provides a mechanism for the epistatic association of ERAP-1 and B*51:01 in Behçet's disease.
|
26360328 |
2016 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
ERAP1 expressions of all patients and controls were decreased under the T effect but it differed significantly between BD vs HC.
|
27467286 |
2016 |
|
Behcet Syndrome
|
0.700 |
SusceptibilityMutation
|
disease |
ORPHANET |
Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians.
|
26097239 |
2015 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide susceptibility genes for BD, in addition to the MHC, IL10, and IL23R-IL12RB2 loci.
|
26097239 |
2015 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants and haplotypes of ERAP1 are associated with AS, psoriasis, and Behçet's disease in people of varying ancestries.
|
26002026 |
2015 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Non-HLA genetic associations such as endoplasmic reticulum aminopeptidase 1 (ERAP1), interleukin 23 receptor (IL23R) and IL10 variations suggest that BD shares susceptibility genes and inflammatory pathways with spondyloarthritis.
|
26068404 |
2015 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this Perspectives article, we describe how Behçet disease and several clinically distinct spondyloarthropathies-all associated with MHC class I (MHC-I) alleles such as HLA-B(*)51, HLA-C(*)0602 and HLA-B(*)27 and epistatic ERAP-1 interactions-have a shared immunopathogenetic basis.
|
26526644 |
2015 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we need to determine allele-specific effects of ERAP1 variants in the context of HLA-B*51 and HLA-Cw*6, which are associated with Behçet's disease and psoriasis, respectively.
|
26002027 |
2015 |
|
Behcet Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the association of ERAP1 gene polymorphisms with BD in a Chinese Han population.
|
26393469 |
2015 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, although they were not statistically significant, our data were consistent with an association between ERAP1 and BD as well as with an epistatic interaction between ERAP1 and HLA-B in the Spanish population.
|
25019531 |
2014 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
GWAS data confirmed the major role of HLA-B51 in Behçet's disease susceptibility, and the discovery of epistatic interactions between HLA-B51 and ERAP1 variants provided some hints about its possible pathogenic mechanisms.
|
24257369 |
2014 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet's disease.
|
23291587 |
2013 |
|
Behcet Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association.
|
23633568 |
2013 |