Genetics of systemic sclerosis: an update.

Genetics of systemic sclerosis: an update.
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DOI:
10.1007/s11926-011-0221-7
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发表时间:
2012-02
影响因子:
5
通讯作者:
Radstake, Timothy R. D. J.
Radstake, Timothy R. D. J.
中科院分区:
医学2区
文献类型:
--
作者:
Broen, Jasper C. A.;Coenen, Marieke J. H.;Radstake, Timothy R. D. J.

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系统性硬化症(SSc)是一种自身免疫性疾病,其特征在于血管病变、免疫细胞活化以及皮肤和内脏器官的纤维化。在过去的几年中,遗传学在SSc易感性中的作用已经确定。本文综述了近一年来SSc遗传学研究的最新进展。今年特别令人感兴趣,因为发表了一项大型全基因组关联研究,对基因-基因相互作用的进一步研究,以及在功能模型中验证遗传结果的趋势。
Systemic sclerosis (SSc) is an autoimmune disease characterized by vasculopathy, immune cell activation, and fibrosis of the skin and internal organs. Over the past few years, a role for genetics in the susceptibility for SSc has been established. This review aims to provide an update on the progress made in the past year or so within the field of SSc genetics research. This year has been of particular interest due to the publication of a large genome-wide association study, further investigations into gene–gene interactions, and the tendency to validate genetic results in functional models.
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发表时间: 2011-07
期刊: PLoS genetics
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影响因子: 3.9
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通讯作者: Radstake, Timothy R. D. J.