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希腊和波兰类风湿性关节炎患者中编码基因的共同表位及多态性

Shared epitope and polymorphism of and encoding genes in Greek and Polish patients with rheumatoid arthritis.

作者信息

Wielińska Joanna, Tarassi Katerina, Iwaszko Milena, Kościńska Katarzyna, Wysoczańska Barbara, Mole Evangelia, Kitsiou Vasiliki, Świerkot Jerzy, Kolossa Katarzyna, Kouniaki Diamanto, Athanassiades Theofilos, Tsirogianni Alexandra, Bogunia-Kubik Katarzyna

机构信息

Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.

Immunology-Histocompatibility Department, Evangelismos Hospital, Athens, Greece.

出版信息

Cent Eur J Immunol. 2021;46(1):92-98. doi: 10.5114/ceji.2021.104425. Epub 2021 Mar 15.

Abstract

The present study aimed to analyse and compare the distribution of MICA (rs1051792) and NKG2D/KLRK1 (rs1154831, rs1049174, rs2255336) polymorphisms in 61 Greek and 100 Polish patients with rheumatoid arthritis in relation to the presence of the HLA-DRB1 shared epitope and clinical parameters. Genotyping of selected polymorphism was performed using real-time PCR. HLA-DRB1 shared epitope alleles segregated differently in Greek and Polish patients but in both populations were detected in over 60% of cases. The rs1051792-A variant was more common among SE-positive Polish patients (p = 0.003) while the rs1049174-G allele was more frequently observed in Greeks than in Poles (p < 0.001). Moreover, among Greek patients, the rs1051792-GG homozygotes more frequently presented with anti-CCP antibodies and rheumatoid factor (RF), while carriers of the rs1049174-G variant and rs1154831-CC homozygotes were characterized by lower disease activity scores (p < 0.05 in all cases). These results imply that, in addition to the HLA-DRB1 SE alleles, MICA and NKG2D polymorphisms may also play a role in rheumatoid arthritis.

摘要

本研究旨在分析和比较61名希腊和100名波兰类风湿性关节炎患者中MICA(rs1051792)和NKG2D/KLRK1(rs1154831、rs1049174、rs2255336)基因多态性的分布情况,以及与HLA-DRB1共享表位的存在和临床参数的关系。使用实时PCR对选定的多态性进行基因分型。HLA-DRB1共享表位等位基因在希腊和波兰患者中的分离情况不同,但在这两个人群中,超过60%的病例中都检测到了该等位基因。rs1051792-A变体在携带SE的波兰患者中更为常见(p = 0.003),而rs1049174-G等位基因在希腊人中比在波兰人中更频繁地观察到(p < 0.001)。此外,在希腊患者中,rs1051792-GG纯合子更频繁地出现抗CCP抗体和类风湿因子(RF),而rs1049174-G变体和rs1154831-CC纯合子携带者的疾病活动评分较低(所有情况p < 0.05)。这些结果表明,除了HLA-DRB1 SE等位基因外,MICA和NKG2D多态性也可能在类风湿性关节炎中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2833/8056341/e88858a7c7da/CEJI-46-43507-g001.jpg

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