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匈牙利早发型和晚发型银屑病及银屑病关节炎患者中HLA - C与ERAP1基因多态性的关联

The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.

作者信息

Képíró László, Széll Márta, Kovács László, Keszthelyi Péter, Kemény Lajos, Gyulai Rolland

机构信息

Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary.

MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.

出版信息

Postepy Dermatol Alergol. 2021 Feb;38(2):43-51. doi: 10.5114/ada.2021.104277. Epub 2021 Mar 10.

DOI:10.5114/ada.2021.104277
PMID:34408565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8362786/
Abstract

INTRODUCTION

Single nucleotide polymorphisms (SNPs) of the HLA-C and ERAP1 genes were recently determined to contribute to psoriasis susceptibility. However, data regarding the association of these genes with specific subgroups of psoriasis are scarce.

AIM

To examine the possible association of the HLA-C and ERAP-1 polymorphisms with early and late onset psoriasis and psoriatic arthritis.

MATERIAL AND METHODS

Five ERAP1 SNPs and two HLA-C SNPs were genotyped in 105 psoriatic arthritis patients, 214 cutaneous psoriasis patients and 200 healthy individuals. Haplotypes were constructed for three ERAP1 SNPs (rs17482078, rs10050860, rs30187), and interaction between HLA-Cw*0602 and ERAP1 was also analysed.

RESULTS

The HLA-Cw*0602 rs10484554 SNP was found to be a strong susceptibility factor for early onset cutaneous psoriasis and early onset psoriatic arthritis. ERAP1 SNPs (rs10050860, rs17482078, rs27525) appear to have a protective function for early onset psoriatic arthritis. The haplotype B was identified as a susceptibility factor for late onset psoriatic arthritis. In HLA-C positive individuals the rs27524 ERAP1 SNP was associated with a significantly increased risk of psoriatic arthritis development, whereas the rs27525 ERAP1 SNP had the opposite effect.

CONCLUSIONS

These results suggest that the HLA-C and ERAP1 genes contribute to the pathogenesis of psoriasis and psoriatic arthritis in an age-dependent manner.

摘要

引言

最近确定，HLA-C和ERAP1基因的单核苷酸多态性（SNP）与银屑病易感性有关。然而，关于这些基因与银屑病特定亚组关联的数据却很稀少。

目的

研究HLA-C和ERAP-1基因多态性与早发型和晚发型银屑病及银屑病关节炎之间可能存在的关联。

材料与方法

对105例银屑病关节炎患者、214例皮肤银屑病患者和200名健康个体进行了5个ERAP1 SNP和2个HLA-C SNP的基因分型。构建了3个ERAP1 SNP（rs17482078、rs10050860、rs30187）的单倍型，并分析了HLA-Cw*0602与ERAP1之间的相互作用。

结果

发现HLA-Cw*0602 rs10484554 SNP是早发型皮肤银屑病和早发型银屑病关节炎的一个强易感因素。ERAP1 SNP（rs10050860、rs17482078、rs27525）似乎对早发型银屑病关节炎具有保护作用。单倍型B被确定为晚发型银屑病关节炎的一个易感因素。在HLA-C阳性个体中，ERAP1 SNP rs27524与银屑病关节炎发病风险显著增加相关，而ERAP1 SNP rs27525则具有相反的作用。

结论

这些结果表明，HLA-C和ERAP1基因以年龄依赖性方式参与银屑病和银屑病关节炎的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89c1/8362786/d6c25343844a/PDIA-38-43468-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89c1/8362786/d6c25343844a/PDIA-38-43468-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89c1/8362786/d6c25343844a/PDIA-38-43468-g001.jpg

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本文引用的文献

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