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成人皮肌炎和系统性红斑狼疮中白细胞介素-1受体拮抗剂基因可变数目串联重复序列多态性

IL-1RN VNTR Polymorphism in Adult Dermatomyositis and Systemic Lupus Erythematosus.

作者信息

Kamenarska Zornitsa, Dzhebir Gyulnas, Hristova Maria, Savov Alexey, Vinkov Anton, Kaneva Radka, Mitev Vanio, Dourmishev Lyubomir

机构信息

Molecular Medicine Center and Department of Medical Chemistry and Biochemistry, Medical University-Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.

Department of Clinical Laboratory and Clinical Immunology and Department of Nephrology, Medical University-Sofia, 1 Georgi Sofijski Street, 1431 Sofia, Bulgaria.

出版信息

Dermatol Res Pract. 2014;2014:953597. doi: 10.1155/2014/953597. Epub 2014 Aug 19.

Abstract

Polymorphisms in the cytokine genes and their natural antagonists are thought to influence the predisposition to dermatomyositis (DM) and systemic lupus erythematosus (SLE). A variable number tandem repeat (VNTR) polymorphism of 86 bp in intron 2 of the interleukin-1 receptor antagonist (IL-1RN) gene leads to the existence of five different alleles which cause differences in the production of both IL-1RA (interleukin-1 receptor antagonist) and IL-1β. The aim of this case-control study was to investigate the association between the IL-1RN VNTR polymorphism and the susceptibility to DM and SLE in Bulgarian patients. Altogether 91 patients, 55 with SLE and 36 with DM, as well as 112 unrelated healthy controls, were included in this study. Only three alleles were identified in both patients and controls ((1) four repeats, (2) two repeats, and (3) five repeats). The IL-1RN*2 allele (P = 0.02, OR 2.5, and 95% CI 1.2-5.4) and the 1/2+2/2 genotypes were found prevalent among the SLE patients (P = 0.05, OR 2.6, and 95% CI 1-6.3). No association was found between this polymorphism and the ACR criteria for SLE as well as with the susceptibility to DM. Our results indicate that the IL-1RN VNTR polymorphism might play a role in the susceptibility of SLE but not DM.

摘要

细胞因子基因及其天然拮抗剂中的多态性被认为会影响皮肌炎(DM)和系统性红斑狼疮(SLE)的易感性。白细胞介素-1受体拮抗剂(IL-1RN)基因内含子2中一个86bp的可变数目串联重复序列(VNTR)多态性导致了五个不同等位基因的存在,这些等位基因会引起IL-1RA(白细胞介素-1受体拮抗剂)和IL-1β产生的差异。本病例对照研究的目的是调查保加利亚患者中IL-1RN VNTR多态性与DM和SLE易感性之间的关联。本研究共纳入91例患者,其中55例为SLE患者,36例为DM患者,以及112名无亲缘关系的健康对照。在患者和对照中仅鉴定出三个等位基因((1) 四个重复序列,(2) 两个重复序列,以及(3) 五个重复序列)。发现IL-1RN*2等位基因(P = 0.02,OR 2.5,95% CI 1.2 - 5.4)以及1/2 + 2/2基因型在SLE患者中较为普遍(P = 0.05,OR 2.6,95% CI 1 - 6.3)。未发现该多态性与SLE的美国风湿病学会(ACR)标准以及DM易感性之间存在关联。我们的结果表明,IL-1RN VNTR多态性可能在SLE的易感性中起作用,但在DM中不起作用。

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Cytokines and autoimmunity.细胞因子与自身免疫
Nat Rev Immunol. 2002 Jan;2(1):37-45. doi: 10.1038/nri702.

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