Department of Dermatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Indian J Dermatol Venereol Leprol. 2012 Sep-Oct;78(5):545-51. doi: 10.4103/0378-6323.100518.
Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mutations in the filaggrin gene have been shown to be the most significant genetic risk factor for development of atopic dermatitis and undoubtedly has a role in the pathogenesis of ichthyosis vulgaris. Though there is theoretical possibility of association with hand eczema and allergic contact dermatitis; in clinical studies, the strength of these associations was not significantly strong. In this review, we have discussed the structure and function of filaggrin, basic genetics, type of mutations in filaggrin gene, and association of such mutations with different dermatoses.
丝聚合蛋白在皮肤的终末分化和角质层中形成角蛋白包膜中起着非常重要的作用。在过去的十年中，已经在丝聚合蛋白基因中鉴定出了几种突变，这些突变主要来自欧洲国家。丝聚合蛋白基因的功能丧失突变导致丝聚合蛋白的产生减少，具体取决于突变的类型和位置。丝聚合蛋白基因中的此类突变已被证明是特应性皮炎发展的最重要遗传风险因素，并且无疑在寻常型鱼鳞病的发病机制中起作用。尽管有与手部湿疹和过敏性接触性皮炎相关的理论可能性；但在临床研究中，这些关联的强度并不明显。在这篇综述中，我们讨论了丝聚合蛋白的结构和功能、基础遗传学、丝聚合蛋白基因中的突变类型以及这些突变与不同皮肤病的关联。
