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.
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。
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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.靶向抗原修剪氨肽酶的理性设计抑制剂增强抗原呈递和细胞毒性 T 细胞反应。
Proc Natl Acad Sci U S A. 2013 Dec 3;110(49):19890-5. doi: 10.1073/pnas.1309781110. Epub 2013 Nov 18.
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Genetics of ankylosing spondylitis.强直性脊柱炎的遗传学。
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。
Nat Genet. 2012 Dec;44(12):1341-8. doi: 10.1038/ng.2467. Epub 2012 Nov 11.
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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.
8
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。
Nat Genet. 2011 Jul 10;43(8):761-7. doi: 10.1038/ng.873.
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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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