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固有免疫功能基因多态性与痛风易感性。

Innate immunity functional gene polymorphisms and gout susceptibility.

出版信息

Gene. 2013 Jul 25;524(2):412-4. doi: 10.1016/j.gene.2013.04.039. Epub 2013 Apr 29.

Abstract

Gout is a common autoinflammatory disease characterized with elevated serum urate and recurrent attacks of intra-articular crystal deposition of monosodium urate. Accumulating evidence has demonstrated that MSU crystal-induced inflammation is a paradigm of innate immunity and the TLRs, NALP3 inflammasome and IL1R pathways are involved in gout development. Innate immunity components containing TLR2, TLR4, CD14, NALP3, ASC, Caspase-1 and CARD-8 are essential in the development of gouty inflammation. Recent studies suggest that innate immunity component gene functional mutations contribute to the development of autoinflammatory diseases including hereditary periodic fever syndrome, arthritis as well as inflammatory bowel disease. Taking into account these genetic findings, we would like to propose a novel hypothesis that the gene functional mutations might make innate immunity components as attractive susceptibility candidates and genetic markers for gout. Further clinical genetic studies need to be performed to confirm the role of innate immunity in the etiology of gout.

摘要

痛风是一种常见的自体炎症性疾病,其特征为血清尿酸升高和单钠尿酸盐结晶在关节内反复沉积。越来越多的证据表明,MSU 晶体诱导的炎症是固有免疫的典范,TLR、NALP3 炎性体和 IL1R 途径参与痛风的发生发展。TLR2、TLR4、CD14、NALP3、ASC、Caspase-1 和 CARD-8 等固有免疫成分在痛风炎症的发生发展中必不可少。最近的研究表明,固有免疫成分基因功能突变可导致包括遗传性周期性发热综合征、关节炎和炎症性肠病在内的自体炎症性疾病的发生。考虑到这些遗传发现,我们提出了一个新的假说,即基因功能突变可能使固有免疫成分成为痛风的易感候选因素和遗传标志物。需要进一步开展临床遗传学研究,以证实固有免疫在痛风发病机制中的作用。

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