Open Access

Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis

  • Authors:
    • Anca E. Chiriac
    • Roxana Popescu
    • Lăcrămioara Butnariu
    • Alina Murgu
    • Liliana Foia
    • Doina Azoicai
  • View Affiliations

  • Published online on: October 15, 2020     https://doi.org/10.3892/etm.2020.9343
  • Article Number: 212
  • Copyright: © Chiriac et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Association of atopic dermatitis (AD) and several mutations of various genes of the immune system, in particular filament‑aggregating protein gene (FLG) has been investigated in many studies. The association between defective FLG and AD in the Romanian population has not been assessed or published. The present study focused on the genetic background of AD, aiming to assess the prevalence of FLG mutations in Romanian patients with AD. Genetic background of AD was tested for common FLG‑mutations: R501X, 2282del4, S3247X and R2447X. The study involved 48 Romanian Caucasian children aged between two months and six years diagnosed with AD, and 48 healthy volunteers; DNA extraction involved 50% of the patients to give samples by using buccal swabs and 50% by collection of whole blood samples. Genetic predisposition was evaluated based on family history, atopy history and profilaggrin genotyping. DNA extracted from blood samples was adequate to study FLG mutations, although no mutation was identified. Genetic factors do not have a unique critical role in AD; therefore, environmental factors unquestionably play an important role ­in this disease, but the clear‑cut part that these factors trigger toward increasing the risk of AD in childhood is still obscure.
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December-2020
Volume 20 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Chiriac AE, Popescu R, Butnariu L, Murgu A, Foia L and Azoicai D: Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Exp Ther Med 20: 212, 2020.
APA
Chiriac, A.E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., & Azoicai, D. (2020). Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Experimental and Therapeutic Medicine, 20, 212. https://doi.org/10.3892/etm.2020.9343
MLA
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20.6 (2020): 212.
Chicago
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20, no. 6 (2020): 212. https://doi.org/10.3892/etm.2020.9343