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强直性脊柱炎发病机制与内质网氨肽酶1的相关研究 被引量：11

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摘要 强直性脊柱炎（ankvlosingspondylitis，As）是血清阴性脊柱关节病（seronegativespondyloarthropathies，SpAs）中一种遗传相关性显著的慢性炎症性关节病。AS常累及中轴骨骼和骶髂关节，并常发生附近肌腱韧带附着点及椎间盘纤维环的钙化和骨性强直。双胞胎研究估计，其90％以上的易感性由遗传因素决定。
作者 陈彬 徐卫东
机构地区 第二军医大学附属长海医院骨科关节外科
出处 《中华风湿病学杂志》 CAS CSCD 北大核心 2012年第9期636-638,共3页 Chinese Journal of Rheumatology
基金 上海市科学技术委员会科研计划项目（10JC1417900）
关键词 强直性脊柱炎 发病机制 血清阴性脊柱关节病 氨肽酶 内质网 椎间盘纤维环 遗传因素 遗传相关性
分类号 R593.23 [医药卫生—内科学]
  • 相关文献

参考文献23

  • 1Pedersen OB, Svendsen AJ,Ejstrup L, et al. Herilability estimates on ankylosing spondylitis. Clin Exp Rheumatol? 2006, 24: 463.
  • 2Thomas GP, Brown MA. Genomics of ankylosing spondylitis. Discovery Medicine, 2010,52: 263-271.
  • 3Brown MA. Genetics of ankylosing spondylitis. Curr Opin Rheumatol, 2010,22: 126-132.
  • 4Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet, 2007, 39: 1329-1337.
  • 5Saric T,Chang SC, Hattori A, et al. An IFN-gamma-induced aminopeptidase in the ER, ERAPI, trims precursors to MHC class I-presented peptides. Nat Immunol,2002, 3: 1169-1176.
  • 6Australo-Anglo-American Spondyloarthritis Consortium (TASC), Reveille JD, Sims AM, et al. Genomewide association study of ankylosing spondylitis identifies multiple non-MHC susceptibility loci. Nat Genet, 2010, 42: 123-127.
  • 7Maksymowych WP, Inman RD, Gladman DD. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis Rheum, 2009, 60: 1317-1323.
  • 8Pimentel-Santos FM, Ligeiro D, Matos M, et al. Association of IL-23R and ERAPI genes with ankylosing spondylitis in a Portuguese population. Clin Exp Rheumatol,2009,27: 800-806.
  • 9Pazdr B,Sdfrany E, Gergely P, et al. Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B * 2705 subtype in Hungarian patients with ankylosing spondylitis. J Rheumatol, 2010,37: 379-384.
  • 10Choi CB,Kim TH, Jun JB, et al. ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans. Ann Rheum Dis, 2010,69: 582-584.

二级参考文献29

  • 1Rtickert C, Fiorillo MT, Loll B, et al. Conformational dimor- phism of selfpeptides and molecular mimicry in a disease associ- ated HLA-B27 subtype. J Biol Chem, 2006, 281: 2306-2316.
  • 2Penttinen MA, Heiskanen KM, Mohapatra R, et al. Enhanced intracellular replication of Salmonella enteritidis in HLA-B27- expressing human monocytic cells: dependency on glutamic acid at position 45 in the B pocket of HLA-B27. Arthritis Rheum, 2004, 50: 2255-2263.
  • 3Martinez-Borra J, Gonzalez S, Lopez-Vazquez A, et al. HLA- B27 alone rather than B27 related class I haplotypes contributes to ankylosing spondylitis susceptibility. Hum Inanunol, 2000, 61: 131-139.
  • 4Zhang G, Luo J, Bruckel J, et al. Genetic studies in familial ankylosing spondylitis susceptibility. Arthritis Rheum, 2004, 50:2246-2254.
  • 5Colbert RA, DeLay ML, Layh-Schmitt G, et al. HLA-B27 mis- folding and spondyloarthropathies. Prion, 2009, 3: 15-26.
  • 6Mear JP, Sehreiber KL, Munz C, et al. Misfolding of HLA-B27 as a result of its B pocket suggests a novel mechanism for its role in susceptibility to spondyloarthropathies. J Immunol, 1999, 163: 6665-6670.
  • 7Turner M J, Sowders DP, DeLay ML, et al. HLA-B27 misfolding in transgenic rats is associated with activation of the unfolded protein response. J Immunol, 2005, 175: 2438-2448.
  • 8Tran TM, Dorris ML, Satumtira N, et al. Additional human beta2m curbs HLA-B27 misfolding and promotes arthritis and spondylitis without colitis in male HLA-B27 transgenic rats. Arthritis Rheum, 2006, 54: 1317-1327.
  • 9Galocha B, de Castro JA. Folding of HLA-B27 subtypes is deter- mined by the global effect of polymorphic residues and shows incomplete correspondence to ankylosing spondylitis. Arthritis Rheum, 2008, 58: 401-412.
  • 10Allen RL, O'Callaghan CA, McMichael AJ, et al. Cutting edge: HLA-B27 can form a novel beta 2-microglobulin-free heavy chain homodimer structure. J Immunol, 1999, 162: 5045-5048.

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中华风湿病学杂志
2012年 第9期

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