Cargando…

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

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....

Descripción completa

Detalles Bibliográficos
Autores principales: Chiriac, Anca E., Popescu, Roxana, Butnariu, Lăcrămioara, Murgu, Alina, Foia, Liliana, Azoicai, Doina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604754/
https://www.ncbi.nlm.nih.gov/pubmed/33149776
http://dx.doi.org/10.3892/etm.2020.9343
_version_ 1783604194694922240
author Chiriac, Anca E.
Popescu, Roxana
Butnariu, Lăcrămioara
Murgu, Alina
Foia, Liliana
Azoicai, Doina
author_facet Chiriac, Anca E.
Popescu, Roxana
Butnariu, Lăcrămioara
Murgu, Alina
Foia, Liliana
Azoicai, Doina
author_sort Chiriac, Anca E.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7604754
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher D.A. Spandidos
record_format MEDLINE/PubMed
spelling pubmed-76047542020-11-03 Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis Chiriac, Anca E. Popescu, Roxana Butnariu, Lăcrămioara Murgu, Alina Foia, Liliana Azoicai, Doina Exp Ther Med Articles 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. D.A. Spandidos 2020-12 2020-10-15 /pmc/articles/PMC7604754/ /pubmed/33149776 http://dx.doi.org/10.3892/etm.2020.9343 Text en Copyright: © Chiriac et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Chiriac, Anca E.
Popescu, Roxana
Butnariu, Lăcrămioara
Murgu, Alina
Foia, Liliana
Azoicai, Doina
Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title_full Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title_fullStr Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title_full_unstemmed Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title_short Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis
title_sort mutations of filament-aggregating protein gene in romanian children diagnosed with atopic dermatitis
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604754/
https://www.ncbi.nlm.nih.gov/pubmed/33149776
http://dx.doi.org/10.3892/etm.2020.9343
work_keys_str_mv AT chiriacancae mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis
AT popescuroxana mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis
AT butnariulacramioara mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis
AT murgualina mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis
AT foialiliana mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis
AT azoicaidoina mutationsoffilamentaggregatingproteingeneinromanianchildrendiagnosedwithatopicdermatitis