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P2X7受体基因多态性与痛风之间的相关性

Correlation between P2X7 receptor gene polymorphisms and gout.

作者信息

Gong Qiong-Yao, Chen Yong

机构信息

Department of Rheumatology, Ningbo No.2 Hospital, Ningbo, Zhejiang, 315010, China.

出版信息

Rheumatol Int. 2015 Aug;35(8):1307-10. doi: 10.1007/s00296-015-3258-5. Epub 2015 Mar 24.

Abstract

Not all patients with hyperuricemia will develop acute gouty arthritis, indicating that other initiating factors need to be considered. The P2X7 receptor is an adenosine triphosphate-gated nonselective cation channel that has also been suggested to be a proinflammatory receptor. In the immune system, the P2X7 receptor is involved in the processing and release of various proinflammatory cytokines, including interleukin-1β (IL-1β), IL-18 and tumor necrosis factor-α (TNF-α). IL-1β is a central cytokine in the initiation of the acute inflammatory response, which plays a key role in the pathogenesis of gout and the pathology of acute gouty arthritis. This review will explore single-nucleotide polymorphisms in the P2X7R gene [including rs1718119 (Ala348Thr), rs208294 (His155Tyr), rs3751143 (Glu496Ala), rs28360457 (Arg307Gln) and rs2230911 (Thr357Ser)] and their correlation with the incidence of gout. We conclude that P2X7R gene polymorphisms impact the secretion of IL-1β and thus play a vital role in the pathogenesis of gout.

摘要

并非所有高尿酸血症患者都会发展为急性痛风性关节炎,这表明还需要考虑其他引发因素。P2X7受体是一种三磷酸腺苷门控的非选择性阳离子通道,也被认为是一种促炎受体。在免疫系统中,P2X7受体参与多种促炎细胞因子的加工和释放,包括白细胞介素-1β(IL-1β)、IL-18和肿瘤坏死因子-α(TNF-α)。IL-1β是急性炎症反应启动过程中的核心细胞因子,在痛风的发病机制和急性痛风性关节炎的病理过程中起关键作用。本综述将探讨P2X7R基因中的单核苷酸多态性[包括rs1718119(Ala348Thr)、rs208294(His155Tyr)、rs3751143(Glu496Ala)、rs28360457(Arg307Gln)和rs2230911(Thr357Ser)]及其与痛风发病率的相关性。我们得出结论,P2X7R基因多态性影响IL-1β的分泌,因此在痛风的发病机制中起着至关重要的作用。

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