Popa Olivia M, Cherciu Marius, Cherciu Laura I, Dutescu Monica I, Bojinca Mihai, Bojinca Violeta, Bara Constantin, Popa Luis O
Department of Immunology and Pathophysiology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
"Prof. Dr. C. T. Nicolau" National Institute of Blood Transfusion, Bucharest, Romania.
Arch Immunol Ther Exp (Warsz). 2016 Dec;64(Suppl 1):123-129. doi: 10.1007/s00005-016-0444-4. Epub 2017 Jan 12.
Psoriatic arthritis (PsA) is a chronic inflammatory disorder that belongs to the group of spondyloarthritis (SpA). It was found that single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase (ERAP1 and ERAP2) genes influence the risk of ankylosing spondylitis, the most common form of SpA and the risk of psoriasis. Our purpose was to investigate the possible association of ERAP1 and ERAP2 gene SNPs with psoriatic arthritis susceptibility in Romanian population. Subsequent analyses included patients' subgroups according to HLA-B27 status. Psoriatic arthritis patients (N = 98) and random healthy controls (N = 139) were genotyped for ERAP1/2 genes SNPs rs30187, rs27044, rs2910686, and rs2248374 by TaqMan Allelic Discrimination Assays. An additional control group (N = 108; 100% HLA-B27 positive) was used for subsequent analyses. The results showed the association of rs2248374 SNP of ERAP2 gene with the risk of PsA, especially for HLA-B27 negative disease (p = 0.02; OR 1.59). ERAP2 haplotype GT (rs2248374/rs2910686) was significantly under-represented in PsA patients than in controls (43 vs. 55%; p = 0.02). The analysis of ERAP1 SNPs in HLA-B27 positive controls and PsA subgroup showed strong evidence of association for rs30187 (p = 0.005; OR 2.73) and for CC rs30187/rs27044 haplotype (47% in patients vs. 70.5% in controls; p = 0.006). In conclusion, we found a significant association of ERAP2 with PsA and HLA-B27 negative PsA, while ERAP1 association was restricted only to HLA-B27 positive disease. To our knowledge, this is the first study that investigated ERAP2 polymorphisms in relation to PsA susceptibility.
银屑病关节炎（PsA）是一种慢性炎症性疾病，属于脊柱关节炎（SpA）组。研究发现，内质网氨肽酶（ERAP1和ERAP2）基因的单核苷酸多态性（SNP）会影响强直性脊柱炎（SpA最常见的形式）的发病风险以及银屑病的发病风险。我们的目的是研究罗马尼亚人群中ERAP1和ERAP2基因SNP与银屑病关节炎易感性之间可能存在的关联。后续分析包括根据HLA - B27状态划分的患者亚组。通过TaqMan等位基因鉴别分析对98例银屑病关节炎患者和139例随机健康对照进行ERAP1/2基因SNP rs30187、rs27044、rs2910686和rs2248374的基因分型。另外使用一个对照组（108例；100% HLA - B27阳性）进行后续分析。结果显示，ERAP2基因的rs2248374 SNP与PsA风险相关，尤其是对于HLA - B27阴性疾病（p = 0.02；比值比1.59）。与对照组相比，PsA患者中ERAP2单倍型GT（rs2248374/rs2910686）的比例显著降低（43%对55%；p = 0.02）。对HLA - B27阳性对照和PsA亚组中的ERAP1 SNP分析显示，rs30187（p = 0.005；比值比2.73）以及CC rs30187/rs27044单倍型（患者中为47%，对照中为70.5%；p = 0.006）有很强的关联证据。总之，我们发现ERAP2与PsA以及HLA - B27阴性PsA存在显著关联，而ERAP1的关联仅局限于HLA - B27阳性疾病。据我们所知，这是第一项研究ERAP
