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Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence

INTRODUCTION: Atopic dermatitis (AD) is a common, chronic, relapsing and heterogeneous inflammatory skin disease. Its main causes are genetic predispositions, the epidermal barrier defect, and immune system dysfunction. Thymic stromal lymphopoietin (TSLP) is highly expressed in the epidermis of AD p...

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Autores principales: Klonowska, Jolanta, Gleń, Jolanta, Nowicki, Roman J., Trzeciak, Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953872/
https://www.ncbi.nlm.nih.gov/pubmed/35369618
http://dx.doi.org/10.5114/ada.2021.102820
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author Klonowska, Jolanta
Gleń, Jolanta
Nowicki, Roman J.
Trzeciak, Magdalena
author_facet Klonowska, Jolanta
Gleń, Jolanta
Nowicki, Roman J.
Trzeciak, Magdalena
author_sort Klonowska, Jolanta
collection PubMed
description INTRODUCTION: Atopic dermatitis (AD) is a common, chronic, relapsing and heterogeneous inflammatory skin disease. Its main causes are genetic predispositions, the epidermal barrier defect, and immune system dysfunction. Thymic stromal lymphopoietin (TSLP) is highly expressed in the epidermis of AD patients and its production is triggered by exposure to environmental factors, allergens, microorganisms and irritants. AIM: To search for the associations between rs1898671 polymorphism in the promotor region of the TSLP gene (SNP) and AD occurrence and course. MATERIAL AND METHODS: The frequency of polymorphism occurrence was examined, connection with IgE level, the severity of AD, itching, and concomitant asthma occurrence and combination with FLG gene mutations (2282del4, R501X) in the population of northern Poland. Blood samples were collected from 239 patients with AD and 170 controls. SNP of TSLP and FLG null mutations were analysed. PCR and RFLP restriction fragment length polymorphism analysis was used. RESULTS: No polymorphisms of studied cytokines caused more frequent occurrence of AD compared to controls. We found no associations between TSLP gene polymorphism and AD severity (p = 0.395), IgE level (p = 0.895), VAS (p = 0.918) or concomitant asthma (p = 0.742). CONCLUSIONS: The SNP of TSLP rs1898671 does not influence the AD course and occurrence. 2282del4 FLG mutation is a key influencer in AD. However, the coexistence of FLG mutations and SNP of TSLP may play a protective role.
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spelling pubmed-89538722022-03-31 Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence Klonowska, Jolanta Gleń, Jolanta Nowicki, Roman J. Trzeciak, Magdalena Postepy Dermatol Alergol Original Paper INTRODUCTION: Atopic dermatitis (AD) is a common, chronic, relapsing and heterogeneous inflammatory skin disease. Its main causes are genetic predispositions, the epidermal barrier defect, and immune system dysfunction. Thymic stromal lymphopoietin (TSLP) is highly expressed in the epidermis of AD patients and its production is triggered by exposure to environmental factors, allergens, microorganisms and irritants. AIM: To search for the associations between rs1898671 polymorphism in the promotor region of the TSLP gene (SNP) and AD occurrence and course. MATERIAL AND METHODS: The frequency of polymorphism occurrence was examined, connection with IgE level, the severity of AD, itching, and concomitant asthma occurrence and combination with FLG gene mutations (2282del4, R501X) in the population of northern Poland. Blood samples were collected from 239 patients with AD and 170 controls. SNP of TSLP and FLG null mutations were analysed. PCR and RFLP restriction fragment length polymorphism analysis was used. RESULTS: No polymorphisms of studied cytokines caused more frequent occurrence of AD compared to controls. We found no associations between TSLP gene polymorphism and AD severity (p = 0.395), IgE level (p = 0.895), VAS (p = 0.918) or concomitant asthma (p = 0.742). CONCLUSIONS: The SNP of TSLP rs1898671 does not influence the AD course and occurrence. 2282del4 FLG mutation is a key influencer in AD. However, the coexistence of FLG mutations and SNP of TSLP may play a protective role. Termedia Publishing House 2021-01-18 2022-02 /pmc/articles/PMC8953872/ /pubmed/35369618 http://dx.doi.org/10.5114/ada.2021.102820 Text en Copyright © 2022 Termedia https://creativecommons.org/licenses/by-nc-sa/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0). License (http://creativecommons.org/licenses/by-nc-sa/4.0/ (https://creativecommons.org/licenses/by-nc-sa/4.0/) )
spellingShingle Original Paper
Klonowska, Jolanta
Gleń, Jolanta
Nowicki, Roman J.
Trzeciak, Magdalena
Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title_full Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title_fullStr Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title_full_unstemmed Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title_short Combination of FLG mutations and SNP of TSLP (rs1898671) influence on atopic dermatitis occurrence
title_sort combination of flg mutations and snp of tslp (rs1898671) influence on atopic dermatitis occurrence
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953872/
https://www.ncbi.nlm.nih.gov/pubmed/35369618
http://dx.doi.org/10.5114/ada.2021.102820
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