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Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression.

作者信息

Liu Guiyou, Hu Yang, Jin Shuilin, Jiang Qinghua

机构信息

School of Life Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.

Department of Mathematics, School of Science, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.

出版信息

Proc Natl Acad Sci U S A. 2017 Feb 7;114(6):E906-E907. doi: 10.1073/pnas.1618520114. Epub 2017 Jan 30.

DOI:10.1073/pnas.1618520114
PMID:28137889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5307472/
Abstract
摘要

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Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression.基因变体rs763361调控多发性硬化症CD226基因的表达。
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Reply to Liu et al.: Haplotype matters: CD226 polymorphism as a potential trigger for impaired immune regulation in multiple sclerosis.回复刘等人:单倍型很重要:CD226基因多态性是多发性硬化症免疫调节受损的潜在触发因素。
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CD226 (DNAM-1) is associated with susceptibility to juvenile idiopathic arthritis.CD226(DNAM-1)与青少年特发性关节炎的易感性相关。
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Autoimmune disease-associated CD226 gene variants are not involved in giant cell arteritis susceptibility in the Spanish population.自身免疫性疾病相关的 CD226 基因变异与西班牙人群的巨细胞动脉炎易感性无关。
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Increased CD226 Expression on CD8+ T Cells Is Associated with Upregulated Cytokine Production and Endothelial Cell Injury in Patients with Systemic Sclerosis.系统性硬化症患者CD8⁺T细胞上CD226表达增加与细胞因子产生上调及内皮细胞损伤相关。
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本文引用的文献

1
Impaired NK-mediated regulation of T-cell activity in multiple sclerosis is reconstituted by IL-2 receptor modulation.白细胞介素-2受体调节可重建多发性硬化症中自然杀伤细胞介导的T细胞活性受损。
Proc Natl Acad Sci U S A. 2016 May 24;113(21):E2973-82. doi: 10.1073/pnas.1524924113. Epub 2016 May 9.
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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.人类基因组学。基因型-组织表达(GTEx)试点分析:人类多组织基因调控
Science. 2015 May 8;348(6235):648-60. doi: 10.1126/science.1262110. Epub 2015 May 7.
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Genetic variability in the regulation of gene expression in ten regions of the human brain.人类大脑十个区域中基因表达调控的遗传变异性。
Nat Neurosci. 2014 Oct;17(10):1418-1428. doi: 10.1038/nn.3801. Epub 2014 Aug 31.
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Transcriptome and genome sequencing uncovers functional variation in humans.转录组和基因组测序揭示了人类功能变异。
Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.
5
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.
6
Mapping cis- and trans-regulatory effects across multiple tissues in twins.在双胞胎的多个组织中映射顺式和反式调控作用。
Nat Genet. 2012 Oct;44(10):1084-9. doi: 10.1038/ng.2394. Epub 2012 Sep 2.
7
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.跨基因表达数量性状位点(eQTLs)揭示了与复杂表型相关的独立遗传变异与中间基因相关,HLA 发挥主要作用。
PLoS Genet. 2011 Aug;7(8):e1002197. doi: 10.1371/journal.pgen.1002197. Epub 2011 Aug 4.
8
A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort.对病态肥胖队列的胃、肝和脂肪组织基因表达的遗传学调查。
Genome Res. 2011 Jul;21(7):1008-16. doi: 10.1101/gr.112821.110. Epub 2011 May 20.
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Tissue-specific genetic control of splicing: implications for the study of complex traits.剪接的组织特异性遗传控制:对复杂性状研究的启示。
PLoS Biol. 2008 Dec 23;6(12):e1. doi: 10.1371/journal.pbio.1000001.
10
CD226 Gly307Ser association with multiple autoimmune diseases.CD226基因第307位密码子甘氨酸突变为丝氨酸与多种自身免疫性疾病的关联
Genes Immun. 2009 Jan;10(1):5-10. doi: 10.1038/gene.2008.82. Epub 2008 Oct 30.