通路：SLE 易感性基因的策略。
Pathways: Strategies for susceptibility genes in SLE.
机构信息
Comprehensive Arthritis, Musculoskeletal, and Autoimmunity Center, Department of Medicine, University of Alabama at Birmingham, USA.
出版信息
Autoimmun Rev. 2010 May;9(7):473-6. doi: 10.1016/j.autrev.2010.02.003. Epub 2010 Feb 8.
Abstract
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder marked by an inappropriate immune response to nuclear antigens. Recent whole genome association and more focused studies have revealed numerous genes implicated in this disease process, including ITGAM, Fc gamma receptors, complement components, C-reactive protein, and others. One common feature of these molecules is their involvement in the immune opsonin pathway and in phagocytic clearing of nuclear antigens and apoptotic debris, which provide excessive exposure of lupus-related antigens to immune cells. Analysis of gene-gene interactions in the opsonin pathway and its relationship to SLE may provide a system-based approach to identify additional candidate genes associated with disease able to account for a larger part of lupus susceptibility.
摘要
系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，其特征是对核抗原产生不适当的免疫反应。最近的全基因组关联和更集中的研究揭示了许多参与这一疾病过程的基因，包括 ITGAM、Fc 受体、补体成分、C 反应蛋白等。这些分子的一个共同特征是它们参与免疫调理途径和核抗原及凋亡碎片的吞噬清除，这为免疫细胞提供了过多的狼疮相关抗原暴露。对调理素途径中的基因-基因相互作用及其与 SLE 的关系进行分析，可能为识别与疾病相关的其他候选基因提供一种基于系统的方法，这些基因能够解释狼疮易感性的更大部分。
相似文献
1
Pathways: Strategies for susceptibility genes in SLE.通路：SLE 易感性基因的策略。
Autoimmun Rev. 2010 May;9(7):473-6. doi: 10.1016/j.autrev.2010.02.003. Epub 2010 Feb 8.
2
Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.对易感性基因ITGAM进行重测序，在系统性红斑狼疮病例中鉴定出两个功能上有害的罕见变异体。
Arthritis Res Ther. 2014 May 21;16(3):R114. doi: 10.1186/ar4566.
3
Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus.系统性红斑狼疮遗传易感性和严重程度中的拷贝数变异
Cytogenet Genome Res. 2008;123(1-4):142-7. doi: 10.1159/000184701. Epub 2009 Mar 11.
4
Recent insights into the genetic basis of systemic lupus erythematosus.系统性红斑狼疮遗传基础的最新见解。
Genes Immun. 2009 Jul;10(5):373-9. doi: 10.1038/gene.2009.39. Epub 2009 May 14.
5
Serum heat-labile opsonins in systemic lupus erythematosus.系统性红斑狼疮中的血清热不稳定调理素。
J Clin Invest. 1974 Feb;53(2):343-53. doi: 10.1172/JCI107566.
6
A protective role for innate immunity in systemic lupus erythematosus.天然免疫在系统性红斑狼疮中的保护作用。
Nat Rev Immunol. 2004 Oct;4(10):825-31. doi: 10.1038/nri1456.
7
Fc γ R IIB gene polymorphisms in Indian systemic lupus erythematosus (SLE) patients.印度系统性红斑狼疮（SLE）患者 FcγRIIB 基因多态性。
Indian J Med Res. 2011 Aug;134(2):181-5.
8
Bioinformatics identification of key candidate genes and pathways associated with systemic lupus erythematosus.生物信息学鉴定与系统性红斑狼疮相关的关键候选基因和通路。
Clin Rheumatol. 2020 Feb;39(2):425-434. doi: 10.1007/s10067-019-04751-7. Epub 2019 Nov 1.
9
Genetic susceptibility to systemic lupus erythematosus in the genomic era.基因组时代系统性红斑狼疮的遗传易感性。
Nat Rev Rheumatol. 2010 Dec;6(12):683-92. doi: 10.1038/nrrheum.2010.176. Epub 2010 Nov 9.
10
Association of ITGAM, TNFSF4, TNFAIP3 and STAT4 gene polymorphisms with risk of systemic lupus erythematosus in a North Indian population.ITGAM、TNFSF4、TNFAIP3和STAT4基因多态性与北印度人群系统性红斑狼疮风险的关联
Lupus. 2018 Oct;27(12):1973-1979. doi: 10.1177/0961203318786432. Epub 2018 Jul 24.
引用本文的文献
1
Lupus Nephritis: Current Perspectives and Moving Forward.狼疮性肾炎：当前观点与未来展望
J Inflamm Res. 2022 Dec 2;15:6533-6552. doi: 10.2147/JIR.S363722. eCollection 2022.
2
Upregulation of FcγRIIB by resveratrol via NF-κB activation reduces B-cell numbers and ameliorates lupus.白藜芦醇通过 NF-κB 激活上调 FcγRIIB，减少 B 细胞数量并改善狼疮。
Exp Mol Med. 2017 Sep 29;49(9):e381. doi: 10.1038/emm.2017.144.
3
Genetics of Lupus Nephritis: Clinical Implications.狼疮性肾炎的遗传学：临床意义
Semin Nephrol. 2015 Sep;35(5):396-409. doi: 10.1016/j.semnephrol.2015.08.002.
4
Clinical perspectives on lupus genetics: advances and opportunities.狼疮遗传学的临床视角：进展与机遇
Rheum Dis Clin North Am. 2014 Aug;40(3):413-32, vii. doi: 10.1016/j.rdc.2014.04.002. Epub 2014 Jun 10.
5
Evaluation of SLE Susceptibility Genes in Malaysians.马来西亚人群中系统性红斑狼疮易感性基因的评估。
Autoimmune Dis. 2014;2014:305436. doi: 10.1155/2014/305436. Epub 2014 Feb 18.
6
Multiple lupus-associated ITGAM variants alter Mac-1 functions on neutrophils.多种狼疮相关的整合素α-M（ITGAM）变体改变了中性粒细胞上巨噬细胞-1（Mac-1）的功能。
Arthritis Rheum. 2013 Nov;65(11):2907-16. doi: 10.1002/art.38117.
7
Decreased ITGAM and FcγRIIIA mRNA expression levels in peripheral blood mononuclear cells from patients with systemic lupus erythematosus.系统性红斑狼疮患者外周血单个核细胞中整合素α-M（ITGAM）和Fcγ受体IIIA（FcγRIIIA）mRNA表达水平降低。
Clin Exp Med. 2014 Aug;14(3):269-74. doi: 10.1007/s10238-013-0240-y. Epub 2013 May 25.
8
Association study of CRP gene in systemic sclerosis in European Caucasian population.欧洲白种人群系统性硬化症中 CRP 基因的相关性研究。
Rheumatol Int. 2014 Mar;34(3):389-92. doi: 10.1007/s00296-013-2673-8. Epub 2013 Feb 9.
9
Anti-C1q antibodies and their association with complement components in Indian systemic lupus erythematosus patients.印度系统性红斑狼疮患者体内的抗C1q抗体及其与补体成分的关联
Indian J Nephrol. 2012 Sep;22(5):353-7. doi: 10.4103/0971-4065.103911.
10
A study on anti-mannose binding lectin (anti-MBL) antibodies and serum MBL levels in Indian systemic lupus erythematosus patients.一项关于印度系统性红斑狼疮患者抗甘露糖结合凝集素（anti-MBL）抗体和血清 MBL 水平的研究。
Rheumatol Int. 2013 Jun;33(6):1533-9. doi: 10.1007/s00296-012-2588-9. Epub 2012 Dec 20.
本文引用的文献
1
Neutralization of interferon-alpha/beta-inducible genes and downstream effect in a phase I trial of an anti-interferon-alpha monoclonal antibody in systemic lupus erythematosus.在系统性红斑狼疮患者中进行的一项抗干扰素-α单克隆抗体I期试验中，干扰素-α/β诱导基因的中和作用及下游效应
Arthritis Rheum. 2009 Jun;60(6):1785-96. doi: 10.1002/art.24557.
2
Evaluation of C1q genomic region in minority racial groups of lupus.狼疮少数种族群体中C1q基因组区域的评估。
Genes Immun. 2009 Jul;10(5):517-24. doi: 10.1038/gene.2009.33. Epub 2009 May 14.
3
The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases.9q33 染色体上的 TRAF1-C5 区域与多种自身免疫性疾病有关。
Ann Rheum Dis. 2010 Apr;69(4):696-9. doi: 10.1136/ard.2008.106567. Epub 2009 May 10.
4
Fcgamma receptors: structure, function and role as genetic risk factors in SLE.Fcγ受体：结构、功能及作为系统性红斑狼疮遗传风险因素的作用
Genes Immun. 2009 Jul;10(5):380-9. doi: 10.1038/gene.2009.35. Epub 2009 May 7.
5
Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing.与系统性红斑狼疮相关的补体受体2多态性可调节可变剪接。
Genes Immun. 2009 Jul;10(5):457-69. doi: 10.1038/gene.2009.27. Epub 2009 Apr 23.
6
Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese.TRAF1-C5 多态性与日本人群类风湿关节炎和系统性红斑狼疮易感性的关联研究。
Ann Rheum Dis. 2010 Feb;69(2):368-73. doi: 10.1136/ard.2008.104315. Epub 2009 Mar 30.
7
Serum levels of ficolin-3 (Hakata antigen) in patients with systemic lupus erythematosus.系统性红斑狼疮患者血清中纤维胶凝蛋白-3（博多抗原）的水平。
J Rheumatol. 2009 Apr;36(4):757-9. doi: 10.3899/jrheum.080361. Epub 2009 Feb 4.
8
Association of three systemic lupus erythematosus susceptibility factors, PD-1.3A, C4AQ0, and low levels of mannan-binding lectin, with autoimmune manifestations in Icelandic multicase systemic lupus erythematosus families.三种系统性红斑狼疮易感因素，即PD-1.3A、C4AQ0和低水平甘露聚糖结合凝集素，与冰岛多病例系统性红斑狼疮家族中的自身免疫表现的关联。
Arthritis Rheum. 2008 Dec;58(12):3865-72. doi: 10.1002/art.24129.
9
STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians.信号转导和转录激活因子4（STAT4）而非肿瘤坏死因子受体相关因子1/补体成分5（TRAF1/C5）基因变异影响哥伦比亚人群患类风湿关节炎和系统性红斑狼疮的风险。
Genes Immun. 2008 Jun;9(4):379-82. doi: 10.1038/gene.2008.30. Epub 2008 Apr 24.
10
Serum amyloid P component-DNA complexes are decreased in systemic lupus erythematosus. inverse association with anti-dsDNA antibodies.系统性红斑狼疮患者血清淀粉样蛋白P成分-DNA复合物减少，与抗双链DNA抗体呈负相关。
J Rheumatol. 2008 Apr;35(4):625-30. Epub 2008 Feb 15.
Zotero 插件