Filaggrin Gene Polymorphisms in Iranian Ichthyosis Vulgaris and Atopic Dermatitis Patients Publisher Pubmed



Hassani B¹ ; Isaian A² ; Shariat M³ ; Mollanoori H¹ ; Sotoudeh S⁴ ; Babaei V¹ ; Ziaali A⁵ ; Teimourian S¹ Show Affiliations
Source: International Journal of Dermatology Published:2018

Abstract

Background: Filaggrin is a key structural epidermal protein in terminal differentiation and formation of skin barrier. The important role of filaggrin and its effects in various cutaneous and noncutaneous disorders initiated a cascade of considerable research in recent years. Loss-of-function mutations in FLG, the human gene encoding profilaggrin/filaggrin, is the cause of the common skin condition ichthyosis vulgaris (IV) and major genetic predisposing factor for atopic dermatitis (AD). Several null mutations in the FLG gene that lead to a decrease or absence of filaggrin in skin and predispose these conditions have been described. Objective: The aim of this study was to investigative genetic polymorphism of FLG in Iranian patients with IV and AD. Methods: In the current study, we carried out full sequencing of the entire FLG coding region in 30 IV patients and 30 AD patients, and also 60 healthy controls. Results: In our research, we identified 43 variants reported previously and two novel variants. Conclusion: In our study, in the AD and IV patients, loss-of-function FLG mutation was not found. This means that another mechanism other than FLG nonsense mutation is involved in the pathogenesis of these patients. © 2018 The International Society of Dermatology