多种膜转运蛋白和部分免疫调节基因是痛风的主要遗传因素。

Q4 Medicine
Open Rheumatology Journal Pub Date : 2018-07-24 eCollection Date: 2018-01-01 DOI:10.2174/1874312901812010094
Weifeng Zhu, Yan Deng, Xiaodong Zhou
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引用次数: 12

摘要

痛风是由高尿酸血症和尿酸钠(MSU)晶体沉积引起的炎性关节炎的一种常见形式。它也被认为是一种复杂的疾病,其中多种遗传因素已被确定与其易感性和/或临床结果相关。与痛风相关的主要基因有:URAT1、GLUT9、OAT4、NPT1 (SLC17A1)、NPT4 (SLC17A3)、NPT5 (SLC17A4)、MCT9、ABCG2、ABCC4、KCNQ1、PDZK1、NIPAL1、IL1β、IL-8、IL-12B、IL-23R、TNFA、MCP-1/CCL2、NLRP3、PPARGC1B、TLR4、CD14、CARD8、P2X7R、EGF、A1CF、HNF4G和TRIM46、LRP2、GKRP、ADRB3、ADH1B、ALDH2、COMT、MAOA、PRKG2、WDR1、ALPK1、CARMIL (LRRC16A)、RFX3、BCAS3、CNIH-2、FAM35A和MYL2-CUX2。这些基因编码的蛋白质主要在尿酸转运、炎症、先天免疫和代谢中起作用。了解痛风相关基因的功能将为未来研究痛风的发病机制以及开发痛风的靶向治疗提供重要见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

Gout is a common form of inflammatory arthritis caused by hyperuricemia and the deposition of Monosodium Urate (MSU) crystals. It is also considered as a complex disorder in which multiple genetic factors have been identified in association with its susceptibility and/or clinical outcomes. Major genes that were associated with gout include URAT1, GLUT9, OAT4, NPT1 (SLC17A1), NPT4 (SLC17A3), NPT5 (SLC17A4), MCT9, ABCG2, ABCC4, KCNQ1, PDZK1, NIPAL1, IL1β, IL-8, IL-12B, IL-23R, TNFA, MCP-1/CCL2, NLRP3, PPARGC1B, TLR4, CD14, CARD8, P2X7R, EGF, A1CF, HNF4G and TRIM46, LRP2, GKRP, ADRB3, ADH1B, ALDH2, COMT, MAOA, PRKG2, WDR1, ALPK1, CARMIL (LRRC16A), RFX3, BCAS3, CNIH-2, FAM35A and MYL2-CUX2. The proteins encoded by these genes mainly function in urate transport, inflammation, innate immunity and metabolism. Understanding the functions of gout-associated genes will provide important insights into future studies to explore the pathogenesis of gout, as well as to develop targeted therapies for gout.

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来源期刊
Open Rheumatology Journal
Open Rheumatology Journal Medicine-Rheumatology
CiteScore
0.80
自引率
0.00%
发文量
2
期刊介绍: ENTHAM Open publishes a number of peer-reviewed, open access journals. These free-to-view online journals cover all major disciplines of science, medicine, technology and social sciences. BENTHAM Open provides researchers a platform to rapidly publish their research in a good-quality peer-reviewed journal. All peer-reviewed accepted submissions meeting high research and ethical standards are published with free access to all.
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