Brown Sara J, Irvine Alan D
Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Semin Cutan Med Surg. 2008 Jun;27(2):128-37. doi: 10.1016/j.sder.2008.04.001.
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.
丝聚合蛋白基因（FLG）的无效突变与特应性皮炎相关这一发现，是理解这种复杂疾病遗传基础方面最重要的单项突破。在过去两年里，通过使用各种方法，在来自欧洲、美国和日本的人群中进行了多项独立研究，均证实了这种关联。丝聚合蛋白在表皮屏障功能中起关键作用，其与特应性皮炎的关联强调了屏障功能障碍在湿疹发病机制中的重要性。本综述旨在总结关于FLG突变在寻常型鱼鳞病、特应性皮炎和其他皮肤疾病中作用的当前知识状态，重点关注潜在的临床应用。需要进一步研究以阐明丝聚合蛋白在皮肤和全身性特应性疾病中的精确作用，为新型治疗干预措施铺平道路。
