CBLB 基因内的变异与多发性硬化症有关。
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
机构信息
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
出版信息
Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9.
Abstract
A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.
摘要
对 882 名多发性硬化症患者（病例）和 872 名对照者的约 660 万个已分型或已推断的变体进行全基因组关联扫描，提示 CBLB 基因变体与疾病相关，在 1775 例病例和 2005 例对照者中得到证实（rs9657904，总 P=1.60x10(-10)，OR=1.40）。CBLB 编码适应性免疫反应的负调节剂，缺乏同源物的小鼠易患多发性硬化症的动物模型实验性自身免疫性脑脊髓炎。
相似文献
1
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.CBLB 基因内的变异与多发性硬化症有关。
Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9.
2
Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population.CBLB 基因与多发性硬化症的关联：意大利人群复制研究的新证据。
J Med Genet. 2011 Mar;48(3):210-1. doi: 10.1136/jmg.2010.081380. Epub 2010 Oct 30.
3
Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.10 个与多发性硬化症相关的基因的复制研究：TMEM39A、IL12B 和 CBLB[CLBL 的校正]基因的验证。
Mult Scler. 2012 Jul;18(7):959-65. doi: 10.1177/1352458511432741. Epub 2011 Dec 22.
4
A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function.CBLB的一种多发性硬化症相关变体将遗传风险与I型干扰素功能联系起来。
J Immunol. 2014 Nov 1;193(9):4439-47. doi: 10.4049/jimmunol.1303077. Epub 2014 Sep 26.
5
Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.1型糖尿病中CBLB基因与CTLA4基因的相互作用分析
J Leukoc Biol. 2007 Mar;81(3):581-3. doi: 10.1189/jlb.0906577. Epub 2007 Jan 5.
6
CBLB variants in type 1 diabetes and their genetic interaction with CTLA4.1型糖尿病中的CBLB变异及其与CTLA4的基因相互作用。
J Leukoc Biol. 2005 Apr;77(4):579-85. doi: 10.1189/jlb.0904524. Epub 2005 Jan 3.
7
Pharmacogenetic Predictors of Response to Interferon Beta Therapy in Multiple Sclerosis.多发性硬化症中干扰素 β 治疗反应的药物遗传学预测因子。
Mol Neurobiol. 2021 Sep;58(9):4716-4726. doi: 10.1007/s12035-021-02454-2. Epub 2021 Jun 24.
8
The CBLB gene and Graves' disease in children.儿童中的CBLB基因与格雷夫斯病
J Pediatr Endocrinol Metab. 2005 Nov;18(11):1119-26. doi: 10.1515/jpem.2005.18.11.1119.
9
Expression and function of Cbl-b in T cells from patients with systemic lupus erythematosus, and detection of the 2126 A/G Cblb gene polymorphism in the Mexican mestizo population.Cbl-b 在系统性红斑狼疮患者 T 细胞中的表达和功能，以及在墨西哥梅斯蒂索人群中检测 Cblb 基因 2126A/G 多态性。
Lupus. 2011 May;20(6):628-35. doi: 10.1177/0961203310394896.
10
Polymorphic variation in the CBLB gene in human type 1 diabetes.人类1型糖尿病中CBLB基因的多态性变异
Genes Immun. 2004 May;5(3):232-5. doi: 10.1038/sj.gene.6364057.
引用本文的文献
1
Human leukocyte antigen-DQA1*04:01 and rs2040406 variants are associated with elevated risk of childhood Burkitt lymphoma.人类白细胞抗原-DQA1*04:01 和 rs2040406 变异与儿童伯基特淋巴瘤风险升高相关。
Commun Biol. 2024 Jan 5;7(1):41. doi: 10.1038/s42003-023-05701-5.
2
Omics approaches to understanding the efficacy and safety of disease-modifying treatments in multiple sclerosis.运用组学方法理解多发性硬化症疾病修饰治疗的疗效与安全性。
Front Genet. 2023 Jan 30;14:1076421. doi: 10.3389/fgene.2023.1076421. eCollection 2023.
3
Cbl-b restrains priming of pathogenic Th17 cells via the inhibition of IL-6 production by macrophages.Cbl-b通过抑制巨噬细胞产生白细胞介素-6来抑制致病性辅助性T细胞17（Th17）的启动。
iScience. 2022 Sep 15;25(10):105151. doi: 10.1016/j.isci.2022.105151. eCollection 2022 Oct 21.
4
Towards a global view of multiple sclerosis genetics.迈向多发性硬化症遗传学的全球视野。
Nat Rev Neurol. 2022 Oct;18(10):613-623. doi: 10.1038/s41582-022-00704-y. Epub 2022 Sep 8.
5
The RING finger protein family in health and disease.RING 指蛋白家族在健康和疾病中的作用。
Signal Transduct Target Ther. 2022 Aug 30;7(1):300. doi: 10.1038/s41392-022-01152-2.
6
Immune dysregulation caused by homozygous mutations in CBLB.由 CBLB 基因纯合突变引起的免疫调节紊乱。
J Clin Invest. 2022 Oct 17;132(20):e154487. doi: 10.1172/JCI154487.
7
High-resolution HLA class II sequencing of Swedish multiple sclerosis patients.对瑞典多发性硬化症患者进行高分辨率 HLA Ⅱ类测序。
Int J Immunogenet. 2022 Oct;49(5):333-339. doi: 10.1111/iji.12594. Epub 2022 Aug 12.
8
Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.揭示来自秘鲁三个生态区人群中的正选择信号。
Mol Biol Evol. 2022 Aug 3;39(8). doi: 10.1093/molbev/msac158.
9
Recycling and Reshaping-E3 Ligases and DUBs in the Initiation of T Cell Receptor-Mediated Signaling and Response.循环利用与重塑：E3 连接酶和 DUB 在 T 细胞受体介导的信号转导和响应中的作用。
Int J Mol Sci. 2022 Mar 22;23(7):3424. doi: 10.3390/ijms23073424.
10
A data management infrastructure for the integration of imaging and omics data in life sciences.生命科学中用于整合成像和组学数据的数据管理基础设施。
BMC Bioinformatics. 2022 Feb 7;23(1):61. doi: 10.1186/s12859-022-04584-3.
本文引用的文献
1
Mechanisms of NKT cell anergy induction involve Cbl-b-promoted monoubiquitination of CARMA1.NKT细胞无反应性诱导机制涉及Cbl-b促进的CARMA1单泛素化。
Proc Natl Acad Sci U S A. 2009 Oct 20;106(42):17847-51. doi: 10.1073/pnas.0904078106. Epub 2009 Oct 7.
2
Genotype imputation.基因型推算
Annu Rev Genomics Hum Genet. 2009;10:387-406. doi: 10.1146/annurev.genom.9.081307.164242.
3
Activation of T cells: releasing the brakes by proteolytic elimination of Cbl-b.T细胞的激活：通过蛋白水解消除Cbl-b来松开刹车
Sci Signal. 2009 Jun 23;2(76):pe38. doi: 10.1126/scisignal.276pe38.
4
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.全基因组关联研究在12号和20号染色体上发现新的多发性硬化症易感基因座。
Nat Genet. 2009 Jul;41(7):824-8. doi: 10.1038/ng.396. Epub 2009 Jun 14.
5
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.全基因组扫描的荟萃分析及重复验证确定CD6、IRF8和TNFRSF1A为新的多发性硬化症易感基因座。
Nat Genet. 2009 Jul;41(7):776-82. doi: 10.1038/ng.401. Epub 2009 Jun 14.
6
Negative regulation of CD40-mediated B cell responses by E3 ubiquitin ligase Casitas-B-lineage lymphoma protein-B.E3泛素连接酶Casitas-B系淋巴瘤蛋白B对CD40介导的B细胞反应的负调控
J Immunol. 2007 Oct 1;179(7):4473-9. doi: 10.4049/jimmunol.179.7.4473.
7
A genome-wide association study of global gene expression.一项关于全基因组基因表达的关联研究。
Nat Genet. 2007 Oct;39(10):1202-7. doi: 10.1038/ng2109. Epub 2007 Sep 16.
8
Risk alleles for multiple sclerosis identified by a genomewide study.一项全基因组研究确定的多发性硬化症风险等位基因。
N Engl J Med. 2007 Aug 30;357(9):851-62. doi: 10.1056/NEJMoa073493. Epub 2007 Jul 29.
9
Regulation of peripheral T cell tolerance by the E3 ubiquitin ligase Cbl-b.E3泛素连接酶Cbl-b对外周T细胞耐受性的调控
Semin Immunol. 2007 Jun;19(3):206-14. doi: 10.1016/j.smim.2007.02.004. Epub 2007 Mar 27.
10
The epidemiology of multiple sclerosis in Europe.欧洲多发性硬化症的流行病学。
Eur J Neurol. 2006 Jul;13(7):700-22. doi: 10.1111/j.1468-1331.2006.01342.x.
Zotero 插件