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FOXO 在洞里面:利用 GWAS 进行结果和功能研究。

FOXO in the hole: leveraging GWAS for outcome and function.

机构信息

The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA.

出版信息

Cell. 2013 Sep 26;155(1):11-2. doi: 10.1016/j.cell.2013.08.050.

DOI:10.1016/j.cell.2013.08.050
PMID:24074853
Abstract

GWAS studies of autoimmune disorders have yielded hundreds of replicated associations, but moving from genetic association to functional studies with potential clinical relevance is a challenge. Leveraging GWAS data, Lee et al. now identify FOXO3 activity as predictive of disease severity in Crohn's disease and rheumatoid arthritis as well as malaria, likely by acting through regulation of cytokine production in monocytes.

摘要

GWAS 研究已经发现了数百个自身免疫性疾病的可重复关联,但从遗传关联到具有潜在临床相关性的功能研究是一个挑战。利用 GWAS 数据,Lee 等人发现 FOXO3 活性可预测克罗恩病和类风湿关节炎以及疟疾的疾病严重程度,这可能是通过调节单核细胞细胞因子的产生来实现的。

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Cell. 2013 Sep 26;155(1):11-2. doi: 10.1016/j.cell.2013.08.050.
2
SNPing at FOXO3 to limit inflammation.针对FOXO3进行基因分型以限制炎症。
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Food Intolerance: Associations with the rs12212067 Polymorphism of FOXO3 in Crohn's Disease Patients in New Zealand.食物不耐受:与新西兰克罗恩病患者中FOXO3基因rs12212067多态性的关联
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Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.在加拿大人群中,淋巴样酪氨酸磷酸酶R620W变体与类风湿性关节炎相关,但与克罗恩病无关。
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The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Crohn's disease than the FOXO3A intron variant rs12212067.与FOXO3A内含子变体rs12212067相比,NOD2基因p.Leu1007fsX1008突变(rs2066847)是克罗恩病临床病程更强有力的预测指标。
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JNK-dependent downregulation of FoxO1 is required to promote the survival of fibroblast-like synoviocytes in rheumatoid arthritis.JNK 依赖性下调 FoxO1 对于促进类风湿关节炎成纤维样滑膜细胞的存活是必需的。
Ann Rheum Dis. 2015 Sep;74(9):1763-71. doi: 10.1136/annrheumdis-2013-203610. Epub 2014 May 8.

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Identification of a Novel Role for Foxo3 Isoform2 in Osteoclastic Inhibition.
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The Rough Guide to Monocytes in Malaria Infection.疟疾感染中单核细胞的概述
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