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本文引用的文献

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Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.3号染色体短臂以基因为中心的关联图谱表明MST1与炎症性肠病发病机制有关。
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Identification of ten loci associated with height highlights new biological pathways in human growth.与身高相关的十个基因座的鉴定揭示了人类生长中的新生物学途径。
Nat Genet. 2008 May;40(5):584-91. doi: 10.1038/ng.125. Epub 2008 Apr 6.
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Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.全基因组关联数据的荟萃分析及大规模重复研究确定了2型糖尿病的其他易感基因座。
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A gene expression network model of type 2 diabetes links cell cycle regulation in islets with diabetes susceptibility.2型糖尿病的基因表达网络模型将胰岛中的细胞周期调控与糖尿病易感性联系起来。
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Variations in DNA elucidate molecular networks that cause disease.DNA变异揭示了引发疾病的分子网络。
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Genetics of gene expression and its effect on disease.基因表达的遗传学及其对疾病的影响。
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Protein tyrosine phosphatases in autoimmunity.自身免疫中的蛋白酪氨酸磷酸酶
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8
The cytosolic sensors Nod1 and Nod2 are critical for bacterial recognition and host defense after exposure to Toll-like receptor ligands.胞质传感器Nod1和Nod2对于暴露于Toll样受体配体后的细菌识别和宿主防御至关重要。
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9
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.整合素α(M)(由ITGAM编码)中的一个非同义功能性变体与系统性红斑狼疮相关。
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10
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.B细胞基因BANK1中的功能性变异与系统性红斑狼疮相关。
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全基因组关联研究:洞察免疫介导疾病的新窗口。

Genome-wide association studies: a new window into immune-mediated diseases.

作者信息

Xavier Ramnik J, Rioux John D

机构信息

Center for Computational and Integrative Biology and Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA.

出版信息

Nat Rev Immunol. 2008 Aug;8(8):631-43. doi: 10.1038/nri2361.

DOI:10.1038/nri2361
PMID:18654571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2750781/
Abstract

Given the recent explosion of genetic discoveries, 2007 is becoming known to human geneticists as the year of genome-wide association studies. In fact, more genetic risk factors for common diseases were identified in this one year than had been collectively reported before 2007. In particular, 2007 witnessed the discovery of many genes that influence susceptibility to individual immune-mediated diseases, as well as other genes that are associated with susceptibility to more than one disease. Although much work remains to be done, in this Review we discuss what effect these studies are having on our understanding of disease pathogenesis and their potential impact on future immunology studies.

摘要

鉴于近期基因发现的激增,2007年正被人类遗传学家称为全基因组关联研究之年。事实上,在这一年里发现的常见疾病的遗传风险因素比2007年之前所有报告的总和还要多。特别是在2007年,发现了许多影响个体免疫介导疾病易感性的基因,以及其他与多种疾病易感性相关的基因。尽管仍有许多工作要做,但在本综述中,我们将讨论这些研究对我们理解疾病发病机制有何影响,以及它们对未来免疫学研究的潜在影响。