Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients

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.

Epidemiology, Diagnosis, and Treatment of Atopic Dermatitis in the Developing Countries of Asia, Africa, Latin America, and the Middle East: A Review

“…Although their prevalence of the two most common filaggrin ( FLG ) mutations leading to AD (R501X and 2282del4) is lower, patients of African descent appear to be at greater risk for severe AD [16, 17]. Other studies have reported the prevalence of different FLG mutations in Asian patients (S1695X, Q1701X, Q1745X, Y1767X, Q1790X, S2554X, S2889X, S3296X, 3222del4, S1515X, Q2417X, and K4022X) and Middle Eastern patients (S417S and D1921N, among others) [24, 25]. Pruritus may be more severe in patients with darker skin [17, 19, 26, 27].…”

Effect of a Novel E3 Probiotics Formula on the Gut Microbiome in Atopic Dermatitis Patients: A Pilot Study

“…For example, it has been demonstrated that greater helper T cell Th17/Th22 polarization is observed in Asian populations with a combined manifest of AD and psoriasis [ 7 , 8 ]. Loss-of-function mutation in the filaggrin ( FLG ) gene is another well-recognized risk factor leading to severe AD with a diverge reported prevalence in different ethnic groups [ 9 , 10 , 11 , 12 , 13 , 14 , 15 ]. On top of the regular risk factors, a growing number of studies about the association between intestinal microbiome dysbiosis and AD has emerged owing to the recent advancement in next-generation sequencing (NGS) [ 13 , 16 , 17 , 18 , 19 ].…”

Clinical features of children with atopic dermatitis according to filaggrin gene variants

“…This study was a reanalysis of our previous investigations performed on FLG polymorphisms in AD published in 2018. 11 In the stated study we identified 45 FLG variants. Here, we selected the most frequent FLG variants to investigate their association with clinical and laboratory manifestations of AD in Iranian young patients.…”

“…Association between FLG polymorphisms and the early onset of AD disease.In 2018, a novel polymorphism was reported in Iranian AD patients by Hasani et al(11), with codon change of tcT>tcC and aa change of p.S417S. In 2018, a novel polymorphism was reported in Iranian AD patients by Hasani et al(11), with codon change of Gac>Aac and aa change of p.H1961Q.…”