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ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients.

作者信息

Robinson Philip C, Costello Mary-Ellen, Leo Paul, Bradbury Linda A, Hollis Kelly, Cortes Adrian, Lee Seunghun, Joo Kyung Bin, Shim Seung-Cheol, Weisman Michael, Ward Michael, Zhou Xiaodong, Garchon Henri-Jean, Chiocchia Gilles, Nossent Johannes, Lie Benedicte A, Førre Øystein, Tuomilehto Jaakko, Laiho Kari, Jiang Lei, Liu Yu, Wu Xin, Elewaut Dirk, Burgos-Vargas Ruben, Gensler Lianne S, Stebbings Simon, Haroon Nigil, Mulero Juan, Fernandez-Sueiro Jose Luis, Gonzalez-Gay Miguel A, Lopez-Larrea Carlos, Bowness Paul, Gafney Karl, Gaston John S Hill, Gladman Dafna D, Rahman Proton, Maksymowych Walter P, Xu Huji, van der Horst-Bruinsma Irene E, Chou Chung-Tei, Valle-Oñate Raphael, Romero-Sánchez María Consuelo, Hansen Inger Myrnes, Pimentel-Santos Fernando M, Inman Robert D, Martin Javier, Breban Maxime, Evans David, Reveille John D, Kim Tae-Hwan, Wordsworth B Paul, Brown Matthew A

机构信息

Centre for Neurogenetics and Statistical Genomics, Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

出版信息

Ann Rheum Dis. 2015 Aug;74(8):1627-9. doi: 10.1136/annrheumdis-2015-207416. Epub 2015 Apr 27.

DOI:10.1136/annrheumdis-2015-207416
PMID:25917849
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4498996/
Abstract
摘要

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ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients.内质网氨肽酶2（ERAP2）在HLA - B27阳性和HLA - B27阴性的强直性脊柱炎患者中均有相关性。
Ann Rheum Dis. 2015 Aug;74(8):1627-9. doi: 10.1136/annrheumdis-2015-207416. Epub 2015 Apr 27.
2
The rs75862629 minor allele in the endoplasmic reticulum aminopeptidases intergenic region affects human leucocyte antigen B27 expression and protects from ankylosing spondylitis in Sardinia.内质网氨肽酶基因间区的 rs75862629 次要等位基因影响人类白细胞抗原 B27 的表达，并保护撒丁岛的强直性脊柱炎患者。
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The interplay between HLA-B27 and ERAP1/ERAP2 aminopeptidases: from anti-viral protection to spondyloarthritis.HLA - B27与内质网氨肽酶1/内质网氨肽酶2之间的相互作用：从抗病毒保护到脊柱关节炎
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Brief Report: Functional Interaction of Endoplasmic Reticulum Aminopeptidase 2 and HLA-B27 Activates the Unfolded Protein Response.简报：内质网氨肽酶 2 与 HLA-B27 的功能相互作用激活未折叠蛋白反应。
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ERAP1 and ERAP2 Gene Variations Influence the Risk of Psoriatic Arthritis in Romanian Population.ERAP1和ERAP2基因变异影响罗马尼亚人群患银屑病关节炎的风险。
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Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis.内质网氨肽酶1（ERAP1）基因的功能变异与HLA - B27阳性脊柱关节炎相关。
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ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers.人类 ERAP2 功能缺失突变不会改变表面重链或 HLA-B27、炎症细胞因子或内质网应激标志物。
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ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.ERAP1 在强直性脊柱炎中的作用：遗传学、生物学及发病机制。
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Separate effects of the ankylosing spondylitis associated ERAP1 and ERAP2 aminopeptidases determine the influence of their combined phenotype on the HLA-B*27 peptidome.强直性脊柱炎相关的 ERAP1 和 ERAP2 氨肽酶的单独作用决定了它们共同表型对 HLA-B*27 肽组的影响。
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Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.急性前葡萄膜炎的遗传剖析揭示了与强直性脊柱炎相关的关联的相似性和差异性。
Arthritis Rheumatol. 2015 Jan;67(1):140-51. doi: 10.1002/art.38873.
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A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.一项全基因组关联研究确定了一种与鸟枪弹样脉络膜视网膜病变相关的功能性内质网氨肽酶2单倍型。
Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22.
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Rationally designed inhibitor targeting antigen-trimming aminopeptidases enhances antigen presentation and cytotoxic T-cell responses.
HLA Ⅰ类相关炎症性疾病的生物学。
Best Pract Res Clin Rheumatol. 2024 May;38(2):101977. doi: 10.1016/j.berh.2024.101977. Epub 2024 Jul 31.
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Exploring the Pathogenesis of Spondylarthritis beyond HLA-B27: A Descriptive Review.探讨 HLA-B27 之外的脊柱关节炎发病机制：描述性综述。
Int J Mol Sci. 2024 May 31;25(11):6081. doi: 10.3390/ijms25116081.
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A study of the association between single nucleotide polymorphisms of the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene and the risk of ankylosing spondylitis in Egyptians.一项关于内质网氨肽酶 2（ERAP2）基因单核苷酸多态性与埃及人强直性脊柱炎风险之间关联的研究。
Mol Biol Rep. 2024 May 5;51(1):614. doi: 10.1007/s11033-024-09404-w.
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A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs.一个顺式调控元件通过自身免疫疾病风险 SNP 调控 ERAP2 的表达。
Cell Genom. 2024 Jan 10;4(1):100460. doi: 10.1016/j.xgen.2023.100460. Epub 2023 Dec 5.
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HLA-B*27 and Ankylosing Spondylitis: 50 Years of Insights and Discoveries.HLA-B*27 与强直性脊柱炎：50 年的深入了解与发现。
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Mol Immunol. 2014 Jan;57(1):2-11. doi: 10.1016/j.molimm.2013.06.013. Epub 2013 Jul 31.
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Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.通过对免疫相关基因座的高密度基因分型鉴定强直性脊柱炎的多种风险变异。
Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9.
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.鉴定出 15 个新的银屑病易感基因位点，突出了固有免疫的作用。
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A common single nucleotide polymorphism in endoplasmic reticulum aminopeptidase 2 induces a specificity switch that leads to altered antigen processing.内质网氨肽酶 2 中的常见单核苷酸多态性诱导特异性转换，导致抗原加工改变。
J Immunol. 2012 Sep 1;189(5):2383-92. doi: 10.4049/jimmunol.1200918. Epub 2012 Jul 25.
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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.ERAP1 与 HLA-B27 在强直性脊柱炎中的相互作用提示肽处理在 HLA-B27 疾病易感性机制中的作用。
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.全基因组荟萃分析将确认的克罗恩病易感性位点数量增加到 71 个。
Nat Genet. 2010 Dec;42(12):1118-25. doi: 10.1038/ng.717.
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Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.平衡选择维持了一种发生无意义介导衰变并影响抗原呈递的 ERAP2 形式。
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