利用人类遗传学开发类风湿关节炎的未来治疗策略。
Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis.
机构信息
Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA.
出版信息
Rheum Dis Clin North Am. 2010 May;36(2):259-70. doi: 10.1016/j.rdc.2010.03.002.
Abstract
The purpose of this article is to place these genetic discoveries in the context of current and future therapeutic strategies for patients with RA. More specifically, this article focuses on (1) a brief overview of genetic studies, (2) human genetics as an approach to identify the Achilles heel of disease pathways, (3) humans as the model organism for functional studies of human mutations, (4) pharmacogenetic studies to gain insight into the mechanism of action of drugs, and (5) next-generation patient registries to enable large-scale genotype-phenotype studies.
摘要
本文旨在将这些遗传发现置于当前和未来 RA 患者的治疗策略背景下。更具体地说，本文重点介绍了（1）遗传研究的简要概述，（2）人类遗传学作为识别疾病途径的阿喀琉斯之踵的方法，（3）人类作为人类突变功能研究的模式生物，（4）药物遗传学研究以深入了解药物作用机制，以及（5）下一代患者登记处，以实现大规模的基因型-表型研究。
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本文引用的文献
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Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.CD28、PRDM1 和 CD2/CD58 基因变异与类风湿关节炎风险相关。
Nat Genet. 2009 Dec;41(12):1313-8. doi: 10.1038/ng.479. Epub 2009 Nov 8.
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Closing the gap between genotype and phenotype.缩小基因型与表型之间的差距。
Nat Genet. 2009 Sep;41(9):958-9. doi: 10.1038/ng0909-958.
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Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.利用基因型可选择的人类生物资源对自身免疫基因座IL2RA进行细胞特异性蛋白质表型分析。
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