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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....
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2020
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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 |
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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 |
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