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丝聚合蛋白(FLG)突变与白细胞介素-17A(IL-17A)和白细胞介素-19(IL-19)单核苷酸多态性(SNP)的组合对特应性皮炎发生的影响。

Combination of FLG mutations and SNPs of IL-17A and IL-19 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):200-208. doi: 10.5114/ada.2021.105412. Epub 2021 Apr 16.

DOI:10.5114/ada.2021.105412
PMID:35369616
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8953886/
Abstract

INTRODUCTION

Atopic dermatitis (AD) is a heterogeneous inflammatory skin disease. A fresh look on the AD pathophysiology has focused on the skin barrier defect and immune dysfunctions. IL-17A and IL-19 seem to play role in AD pathogenesis.

AIM

The aim was to investigate associations of SNPs of IL-17A (rs2275913) and IL-19 (rs22431188) with AD features, course and occurrence. Searching for prognostic panels composed of FLG (2282del4, R501X) mutations with IL-17A and IL-19 polymorphisms.

MATERIAL AND METHODS

Blood samples were collected from 239 patients with AD and 170 controls. Two SNPs, IL-17A and IL-19 and FLG null mutations were analyzed. PCR and RFLP restriction fragment length polymorphism analysis were used. SCORAD score to establish AD severity, VAS to estimate pruritus.

RESULTS

None polymorphisms of studied cytokines caused more frequent AD occurrence compared to controls. We found no associations between IL-17A and IL-19 gene polymorphisms and AD severity (respectively = 0.954; = 0.498), IgE level ( = 0.707; = 0.584), VAS ( = 0.953; = 0.478), concomitant asthma ( = 0.488, = 0.764). The G/G genotype in IL-17A (rs2275913) occurrence with coexisting 2282del4 FLG gene mutation increased the AD frequency 9 times ( = 0.0266).

CONCLUSIONS

The SNPs of IL-17A rs2275913 and IL-19 rs22431188 SNP seem not to have influence on AD course and occurrence while studied alone. The coexistence of GG genotype of IL-17A and 2282del4 FLG mutation may play a role as prognostic AD factor.

摘要

引言

特应性皮炎(AD)是一种异质性炎症性皮肤病。对AD病理生理学的新认识聚焦于皮肤屏障缺陷和免疫功能障碍。白细胞介素-17A(IL-17A)和白细胞介素-19(IL-19)似乎在AD发病机制中起作用。

目的

旨在研究IL-17A(rs2275913)和IL-19(rs22431188)的单核苷酸多态性(SNP)与AD的特征、病程及发病之间的关联。寻找由丝聚蛋白(FLG,2282del4,R501X)突变与IL-17A和IL-19多态性组成的预后指标。

材料与方法

收集了239例AD患者和170例对照的血样。分析了两个SNP,即IL-17A和IL-19以及FLG无效突变。采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析。用SCORAD评分确定AD严重程度,用视觉模拟评分法(VAS)评估瘙痒程度。

结果

与对照组相比,所研究细胞因子的多态性均未导致AD更频繁地发生。我们发现IL-17A和IL-19基因多态性与AD严重程度(分别为P = 0.954;P = 0.498)、免疫球蛋白E(IgE)水平(P = 0.707;P = 0.584)、VAS(P = 0.953;P = 0.478)、伴发哮喘(P = 0.488,P = 0.764)之间均无关联。IL-17A(rs2275913)的G/G基因型与共存的2282del4 FLG基因突变同时出现时,AD发生频率增加了9倍(P = 0.0266)。

结论

单独研究时,IL-17A rs2275913和IL-19 rs22431188的SNP似乎对AD病程和发病没有影响。IL-17A的GG基因型与2282del4 FLG突变共存可能作为AD的一个预后因素发挥作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/597f/8953886/631d884302d0/PDIA-39-43869-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/597f/8953886/631d884302d0/PDIA-39-43869-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/597f/8953886/631d884302d0/PDIA-39-43869-g001.jpg

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