IgA 肾病的遗传学和免疫生物学。
The genetics and immunobiology of IgA nephropathy.
出版信息
J Clin Invest. 2014 Jun;124(6):2325-32. doi: 10.1172/JCI74475. Epub 2014 Jun 2.
Abstract
IgA nephropathy (IgAN) represents the leading cause of kidney failure among East Asian populations and the most frequent form of primary glomerulonephritis among Europeans. Patients with IgAN develop characteristic IgA1-containing immune complexes that deposit in the glomerular mesangium, producing progressive kidney injury. Recent studies define IgAN as an autoimmune trait of complex architecture with a strong genetic determination. This Review summarizes new insights into the role of the O-glycosylation pathway, anti-glycan immune response, mucosal immunity, antigen processing and presentation, and the alternative complement pathway in the pathogenesis of IgAN.
摘要
IgA 肾病 (IgAN) 是东亚人群肾衰竭的主要病因，也是欧洲人群原发性肾小球肾炎最常见的形式。IgAN 患者会产生含有特征性 IgA1 的免疫复合物，这些复合物会在肾小球系膜中沉积，导致进行性的肾脏损伤。最近的研究将 IgAN 定义为一种具有复杂结构和强烈遗传决定因素的自身免疫特征。本综述总结了在 IgAN 发病机制中，O-糖基化途径、抗糖免疫反应、黏膜免疫、抗原加工和呈递以及替代补体途径的新见解。
相似文献
1
The genetics and immunobiology of IgA nephropathy.IgA 肾病的遗传学和免疫生物学。
J Clin Invest. 2014 Jun;124(6):2325-32. doi: 10.1172/JCI74475. Epub 2014 Jun 2.
2
Cellular signaling and production of galactose-deficient IgA1 in IgA nephropathy, an autoimmune disease.IgA 肾病（一种自身免疫性疾病）中细胞信号转导和半乳糖缺乏 IgA1 的产生。
J Immunol Res. 2014;2014:197548. doi: 10.1155/2014/197548. Epub 2014 Jul 23.
3
The pathogenic role of IgA1 O-linked glycosylation in the pathogenesis of IgA nephropathy.IgA1 O-连接糖基化在IgA肾病发病机制中的致病作用。
Nephrology (Carlton). 2007 Jun;12(3):275-84. doi: 10.1111/j.1440-1797.2007.00797.x.
4
Aberrant glycosylation of IgA1 and anti-glycan antibodies in IgA nephropathy: role of mucosal immune system.IgA肾病中IgA1的异常糖基化和抗聚糖抗体：黏膜免疫系统的作用
Adv Otorhinolaryngol. 2011;72:60-3. doi: 10.1159/000324607. Epub 2011 Aug 18.
5
Aberrant glycosylation in IgA nephropathy (IgAN).IgA肾病（IgAN）中的异常糖基化。
Kidney Int. 2004 May;65(5):1544-7. doi: 10.1111/j.1523-1755.2004.05407.x.
6
Genetics and immunopathogenesis of IgA nephropathy.IgA 肾病的遗传学和免疫发病机制。
Clin Rev Allergy Immunol. 2011 Oct;41(2):198-213. doi: 10.1007/s12016-010-8232-0.
7
IgA glycosylation and IgA immune complexes in the pathogenesis of IgA nephropathy.IgA糖基化与IgA免疫复合物在IgA肾病发病机制中的作用
Semin Nephrol. 2008 Jan;28(1):78-87. doi: 10.1016/j.semnephrol.2007.10.009.
8
Enumerating the role of properdin in the pathogenesis of IgA nephropathy and its possible therapies.列举备解素在 IgA 肾病发病机制中的作用及其可能的治疗方法。
Int Immunopharmacol. 2021 Apr;93:107429. doi: 10.1016/j.intimp.2021.107429. Epub 2021 Feb 8.
9
Role of macromolecular IgA in IgA nephropathy.大分子IgA在IgA肾病中的作用。
Kidney Int. 2005 Mar;67(3):813-21. doi: 10.1111/j.1523-1755.2005.00146.x.
10
Serum under-O-glycosylated IgA1 level is not correlated with glomerular IgA deposition based upon heterogeneity in the composition of immune complexes in IgA nephropathy.血清低岩藻糖基化 IgA1 水平与 IgA 肾病肾小球 IgA 沉积不相关，这是基于免疫复合物组成的异质性。
BMC Nephrol. 2014 Jun 13;15:89. doi: 10.1186/1471-2369-15-89.
引用本文的文献
1
Integrative bioinformatics analysis unveils hub transcription factors and their interacting drugs in immunoglobulin A nephropathy: Implications for pathogenesis and treatments.整合生物信息学分析揭示了免疫球蛋白A肾病中的关键转录因子及其相互作用药物：对发病机制和治疗的启示。
J Genet Eng Biotechnol. 2025 Sep;23(3):100513. doi: 10.1016/j.jgeb.2025.100513. Epub 2025 May 29.
2
Single-Cell RNA-Sequencing Analysis Provides Insights into IgA Nephropathy.单细胞RNA测序分析为IgA肾病提供了见解。
Biomolecules. 2025 Jan 29;15(2):191. doi: 10.3390/biom15020191.
3
The incidence and prevalence of immunoglobulin A nephropathy in the United States.美国免疫球蛋白A肾病的发病率和患病率。
Clin Nephrol. 2025 Jan;103(1):19-25. doi: 10.5414/CN111489.
4
Exploring the mediating role of immune cells in the pathogenesis of IgA nephropathy through the inflammatory axis of gut microbiota from a genomic perspective.从基因组学角度探讨免疫细胞通过肠道微生物群炎症轴在IgA肾病发病机制中的中介作用。
Mamm Genome. 2025 Mar;36(1):306-316. doi: 10.1007/s00335-024-10081-0. Epub 2024 Nov 7.
5
Pathogenesis of IgA nephropathy: Omics data inform glycomedicine.IgA肾病的发病机制：组学数据为糖医学提供信息。
Nephrology (Carlton). 2024 Sep;29 Suppl 2(Suppl 2):18-22. doi: 10.1111/nep.14350.
6
Causal association between peripheral immune cells and IgA nephropathy: a Mendelian randomization study.外周免疫细胞与 IgA 肾病的因果关系：一项孟德尔随机化研究。
Front Immunol. 2024 Aug 16;15:1371662. doi: 10.3389/fimmu.2024.1371662. eCollection 2024.
7
Insights on Nefecon, a Targeted-Release Formulation of Budesonide and Its Selective Immunomodulatory Effects in Patients with IgA Nephropathy.尼福康：布地奈德靶向释放制剂及其在 IgA 肾病患者中的选择性免疫调节作用的新见解。
Drug Des Devel Ther. 2024 Jul 31;18:3415-3428. doi: 10.2147/DDDT.S383138. eCollection 2024.
8
O-glycosylation of IgA1 and the pathogenesis of an autoimmune disease IgA nephropathy.IgA1 的 O-糖基化与自身免疫性疾病 IgA 肾病的发病机制。
Glycobiology. 2024 Sep 30;34(11). doi: 10.1093/glycob/cwae060.
9
Unraveling chronic kidney disease in children: a surprising manifestation of celiac disease.揭开儿童慢性肾病之谜：乳糜泻的一种惊人表现。
Front Pediatr. 2024 Apr 24;12:1384591. doi: 10.3389/fped.2024.1384591. eCollection 2024.
10
Efficacy and safety of biologic agents for IgA nephropathy: A protocol for systematic review and meta-analysis.生物制剂治疗 IgA 肾病的疗效和安全性：系统评价和荟萃分析方案。
PLoS One. 2024 Mar 28;19(3):e0298732. doi: 10.1371/journal.pone.0298732. eCollection 2024.
本文引用的文献
1
Cytokines alter IgA1 O-glycosylation by dysregulating C1GalT1 and ST6GalNAc-II enzymes.细胞因子通过失调 C1GalT1 和 ST6GalNAc-II 酶来改变 IgA1 的 O-糖基化。
J Biol Chem. 2014 Feb 21;289(8):5330-9. doi: 10.1074/jbc.M113.512277. Epub 2014 Jan 7.
2
Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.人类α-防御素DEFA1A3基因拷贝数的准确测量。
BMC Genomics. 2013 Oct 20;14(1):719. doi: 10.1186/1471-2164-14-719.
3
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.免疫相关基因座分析鉴定出多发性硬化症的 48 个新易感变异。
Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29.
4
Systematic identification of trans eQTLs as putative drivers of known disease associations.系统识别跨表达数量性状基因座(trans eQTLs)作为已知疾病关联的潜在驱动因素。
Nat Genet. 2013 Oct;45(10):1238-1243. doi: 10.1038/ng.2756. Epub 2013 Sep 8.
5
IgA nephropathy.IgA肾病
N Engl J Med. 2013 Jun 20;368(25):2402-14. doi: 10.1056/NEJMra1206793.
6
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.C3 肾小球病相关的 CFHR1 突变改变了 FHR 寡聚化和补体调节。
J Clin Invest. 2013 Jun;123(6):2434-46. doi: 10.1172/JCI68280.
7
The lectin domain of the polypeptide GalNAc transferase family of glycosyltransferases (ppGalNAc Ts) acts as a switch directing glycopeptide substrate glycosylation in an N- or C-terminal direction, further controlling mucin type O-glycosylation.多肽 N-乙酰氨基半乳糖转移酶家族糖基转移酶（ppGalNAc Ts）的凝集素结构域作为一个开关，控制糖肽底物在 N 或 C 末端方向的糖基化，进一步控制粘蛋白型 O-糖基化。
J Biol Chem. 2013 Jul 5;288(27):19900-14. doi: 10.1074/jbc.M113.477877. Epub 2013 May 20.
8
Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.确定 1q32 处 CFHR3/CFHR1 缺失的人群频率。
PLoS One. 2013 Apr 16;8(4):e60352. doi: 10.1371/journal.pone.0060352. Print 2013.
9
Pathogenesis of immunoglobulin A nephropathy.免疫球蛋白 A 肾病的发病机制。
Curr Opin Nephrol Hypertens. 2013 May;22(3):287-94. doi: 10.1097/MNH.0b013e32835fef54.
10
Dimerization of complement factor H-related proteins modulates complement activation in vivo.补体因子 H 相关蛋白的二聚化调节体内补体激活。
Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4685-90. doi: 10.1073/pnas.1219260110. Epub 2013 Mar 4.
Zotero 插件