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HLA-B27

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人类白血球抗原B27(HLA-B27,B*2701-2759亚型)[1] 是一种由主要组织相容性复合体(MHC)中的B位点所编码的I类细胞表面分子,位于6号染色体上,负责向T细胞呈递抗原性(来源包括自体与外来抗原)。HLA-B27与强直性脊椎炎及其他相关的发炎性疾病(如干癣性关节炎发炎性肠病反应性关节炎)具有高度关联性。

盛行率

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HLA-B27在各国盛行率差异极大。HLA-B27在美国的盛行率约为6-8%[2],在北非人口中约为4%,汉族人口中约为2-9%,而在日本人中则仅有0.1–0.5%[1]。在北斯堪的纳维亚萨米地区萨米人的HLA-B27阳性率为24%,其中1.8%罹患强直性脊椎炎[3],相比之下,北斯堪的纳维亚人整体的HLA-B27阳性率为14-16%[4][5]。在芬兰,估计有14%的人口HLA-B27阳性,其中超过95%的强直性脊椎炎患者和约70–80%的反应性关节炎患者携带此基因标记[6]

疾病关联

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虽然已有多种疾病报导与HLA-B27的关联,但大多数阳性个体终其一生不会发展出相关疾病[2],且其与疾病之间的病生理迄今尚不明朗[7]

脊椎关节病变(SpA)是HLA-B27关联疾病中,最广为人知的一系列疾病,相关疾病包含僵直性脊椎炎(AS)、反应性关节炎等等。有高达九成的僵直性脊椎炎患者为HLA-B27阳性,且阳性个体比阴性个体更容易发生早发型僵直性脊椎炎[8],但仅有5%的HLA-B27阳性个体会出现此一疾病[7]。研究也发现阳性带原者更容易因环境因子诱发疾病[1][9]

HLA-B27也与其他SpA关联疾病相关,诸如反应性关节炎、葡萄膜炎、发炎性肠病等等[10][11]干癣性关节炎中也有约40–50%的患者拥有HLA-B27基因[12]

HIV非凡控制者

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约1/500的HIV感染者可在多年内无需治疗仍保持无症状状态,这类个体被称为非凡控制者英语long-term nonprogressor。有研究指出在非凡控制者中,HLA-B27及HLA-B5701英语HLA-B5701阳性个体的比例显著较高[13]

参见

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参考文献

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  1. ^ 1.0 1.1 1.2 M. A. Khan. HLA and spondyloarthropathies. Narinder K. Mehra (编). The HLA Complex in Biology and Medicine. New Delhi, India: Jayppee Brothers Medical Publishers. 2010: 259–275. ISBN 978-81-8448-870-8. 
  2. ^ 2.0 2.1 Parameswaran, Padmini; Lucke, Michael. StatPearls. StatPearls Publishing. November 30, 2024. PMID 31855367 –通过PubMed. 
  3. ^ Johnsen, K.; Gran, J. T.; Dale, K.; Husby, G. The prevalence of ankylosing spondylitis among Norwegian Samis (Lapps). The Journal of Rheumatology. October 1992, 19 (10): 1591–1594. ISSN 0315-162X. PMID 1464873. 
  4. ^ Gran, J. T.; Mellby, A. S.; Husby, G. The Prevalence of HLA-B27 in Northern Norway. Scandinavian Journal of Rheumatology. January 1984, 13 (2): 173–176. ISSN 0300-9742. doi:10.3109/03009748409100382 (英语). 
  5. ^ Bjelle, Anders; Cedergren, Bertil; Rantapää Dahlqvist, Solbritt. HLA B 27 in the Population of Northern Sweden. Scandinavian Journal of Rheumatology. January 1982, 11 (1): 23–26. ISSN 0300-9742. doi:10.3109/03009748209098109 (英语). 
  6. ^ Vaasa, laboratorio-ohjekirja Ly-Kudosantigeeni B27 (Vaasa, laboratory manual Ly-Tissue antigen B27). 2014-07-21 [2023-04-13] (finnish). 
  7. ^ 7.0 7.1 Navid, Fatemeh; Chen, Liye; Bowness, Paul; Colbert, Robert A. HLA-B27 and spondyloarthritis: at the crossroads of innate and adaptive immunity. Nature Reviews Rheumatology. 2025-02, 21 (2). ISSN 1759-4804. doi:10.1038/s41584-024-01189-3 (英语). 
  8. ^ Feldtkeller, Ernst; Khan, Muhammad; van der Heijde, Désirée; van der Linden, Sjef; Braun, Jürgen. Age at disease onset and diagnosis delay in HLA-B27 negative vs. positive patients with ankylosing spondylitis. Rheumatology International. 2003-03, 23 (2). ISSN 0172-8172. doi:10.1007/s00296-002-0237-4 (英语). 
  9. ^ Thomas, Gethin P.; Brown, Matthew A. Genetics and genomics of ankylosing spondylitis. Immunological Reviews. 2010-01, 233 (1). ISSN 0105-2896. doi:10.1111/j.0105-2896.2009.00852.x (英语). 
  10. ^ Elizabeth D Agabegi; Agabegi, Steven S. Step-Up to Medicine (Step-Up Series)需要免费注册. Hagerstwon, MD: Lippincott Williams & Wilkins. 2008. ISBN 978-0-7817-7153-5. 
  11. ^ Kataria, RK; Brent LH. Spondyloarthropathies. American Family Physician. June 2004, 69 (12): 2853–2860 [2009-06-29]. PMID 15222650. (原始内容存档于2008-07-09). 
  12. ^ Ritchlin, Christopher T.; Colbert, Robert A.; Gladman, Dafna D. Psoriatic Arthritis. New England Journal of Medicine. March 9, 2017, 376 (10): 957–970. doi:10.1056/NEJMra1505557 –通过Taylor and Francis+NEJM. 
  13. ^ Chatterjee, Koushik. Host genetic factors in susceptibility to HIV-1 infection and progression to AIDS. Journal of Genetics. 2010-04-01, 89 (1). ISSN 0973-7731. doi:10.1007/s12041-010-0003-4 (英语). 

外部链接

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