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丝聚蛋白(FLG)突变与胸腺基质淋巴细胞生成素(TSLP)的单核苷酸多态性(SNP,rs1898671)相结合对特应性皮炎发生的影响。

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

作者信息

Klonowska Jolanta, Gleń Jolanta, Nowicki Roman J, Trzeciak Magdalena

机构信息

Independent Public Health Care Unit of Rypin, Rypin, Poland.

Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.

出版信息

Postepy Dermatol Alergol. 2022 Feb;39(1):152-158. doi: 10.5114/ada.2021.102820. Epub 2021 Jan 18.

Abstract

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 ( = 0.395), IgE level ( = 0.895), VAS ( = 0.918) or concomitant asthma ( = 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.

摘要

引言

特应性皮炎(AD)是一种常见的、慢性的、复发性的且异质性的炎症性皮肤病。其主要病因是遗传易感性、表皮屏障缺陷和免疫系统功能障碍。胸腺基质淋巴细胞生成素(TSLP)在AD患者的表皮中高表达,其产生是由暴露于环境因素、过敏原、微生物和刺激物所触发的。

目的

探寻TSLP基因启动子区域的rs1898671多态性(单核苷酸多态性,SNP)与AD发生及病程之间的关联。

材料与方法

在波兰北部人群中检测多态性发生的频率,以及与IgE水平、AD严重程度、瘙痒、伴发哮喘的发生情况以及与FLG基因突变(2282del4、R501X)的关联。采集了239例AD患者和170例对照的血样。对TSLP的SNP和FLG无效突变进行分析。采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析。

结果

与对照组相比,所研究细胞因子的多态性并未导致AD更频繁地发生。我们发现TSLP基因多态性与AD严重程度(P = 0.395)、IgE水平(P = 0.895)、视觉模拟评分(VAS,P = 0.918)或伴发哮喘(P = 0.742)之间无关联。

结论

TSLP的rs1898671单核苷酸多态性不影响AD的病程及发生。FLG基因的2282del4突变是AD的关键影响因素。然而,FLG突变与TSLP单核苷酸多态性的共存可能起到保护作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc9a/8953872/62a0b9f4519b/PDIA-39-43075-g001.jpg

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