Atopic eczema and the filaggrin story
Atopic eczema and the filaggrin story
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DOI：
10.1016/j.sder.2008.04.001
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发表时间：
2008-06-01
影响因子：
--
通讯作者：
Irvine, Alan D.
中科院分区：
文献类型：
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作者：
Brown, Sara J.;Irvine, Alan D.
丝聚蛋白基因（FLG）的无效突变与特应性湿疹相关的发现代表了理解这种复杂疾病的遗传基础的最重要的突破。在过去的2年中，使用各种方法，在欧洲、美国和日本的人群中进行了多项独立研究，重复了这种关联。丝聚蛋白在表皮屏障功能中起关键作用，其与特应性湿疹的关系强调了屏障功能障碍在湿疹发病机制中的重要性。本文综述了FLG基因突变在寻常型鱼鳞病、特应性湿疹和其他皮肤疾病中的作用，并重点介绍其潜在的临床应用。需要进一步的研究来阐明丝聚蛋白在皮肤和系统性特应性疾病中的确切作用，为新的治疗干预铺平道路。
The discovery that null mutations in the filaggrin gene (FLG) are associated with atopic eczema represents the single most significant breakthrough in understanding the genetic basis of this complex disorder. The association has been replicated in multiple independent studies during the past 2 years with the use of various methodologies, from populations in Europe, the United States, and Japan. Filaggrin plays a key role in epidermal barrier function, and its association with atopic eczema emphasizes the importance of barrier dysfunction in eczema pathogenesis. This review aims to summarize the current state of knowledge regarding the role of FLG mutations in ichthyosis vulgaris, atopic eczema, and other skin disorders, with an emphasis on potential clinical applications. Further research is needed to clarify the precise role of filaggrin in skin and systemic atopic disease, to pave the way for novel therapeutic interventions.